#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
LRRN1	57633	broad.mit.edu	37	3	3887513	3887513	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:3887513C>T	ENST00000319331.3	+	2	1949	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	396	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGCCCCTGTCCATGTTCTGTG	0.493																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1186-1188)tcC>tcT		leucine rich repeat neuronal 1							88.0	91.0	90.0					3																	3887513		2203	4300	6503	SO:0001819	synonymous_variant	57633					integral to membrane		g.chr3:3887513C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1188C>T	3.37:g.3887513C>T						SUMF1_ENST00000534863.1_Intron	p.S396S	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1949	+			396			LRRCT.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Silent	SNP	ENST00000319331.3	37	c.1188C>T	CCDS33685.1																																																																																				0.493	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		30	49	0	0	0	1	0	30	49				
CD2BP2	10421	broad.mit.edu	37	16	30364565	30364565	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30364565T>A	ENST00000305596.3	-	6	1027	c.852A>T	c.(850-852)gaA>gaT	p.E284D	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.E284D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	284	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CCCACTTATATTCCCACATCA	0.572																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(850-852)gaA>gaT		CD2 (cytoplasmic tail) binding protein 2							150.0	132.0	138.0					16																	30364565		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364565T>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.852A>T	16.37:g.30364565T>A	ENSP00000304903:p.Glu284Asp					CD2BP2_ENST00000569466.1_Missense_Mutation_p.E284D	p.E284D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			6	1027	-			284			GYF.		B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.852A>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	t	22.0	4.232665	0.79688	.	.	ENSG00000169217	ENST00000305596	T	0.40476	1.03	5.14	-5.18	0.02840	GYF (4);	0.000000	0.85682	D	0.000000	T	0.60983	0.2311	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67929	-0.5543	10	0.54805	T	0.06	-0.0797	16.7075	0.85376	0.0:0.6719:0.0:0.3281	.	284	O95400	CD2B2_HUMAN	D	284	ENSP00000304903:E284D	ENSP00000304903:E284D	E	-	3	2	CD2BP2	30272066	0.001000	0.12720	0.958000	0.39756	0.994000	0.84299	-2.021000	0.01440	-0.904000	0.03876	-0.254000	0.11334	GAA		0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		33	58	0	0	0	1	0	33	58				
GMEB2	26205	broad.mit.edu	37	20	62221767	62221767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221767G>A	ENST00000266068.1	-	9	1746	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGGGGAGGCCGGGGAGCTGGC	0.692																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(1267-1269)cCg>cTg		glucocorticoid modulatory element binding protein 2							11.0	12.0	12.0					20																	62221767		2179	4280	6459	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221767G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1268C>T	20.37:g.62221767G>A	ENSP00000266068:p.Pro423Leu					GMEB2_ENST00000370077.1_Missense_Mutation_p.P423L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372L	p.P423L			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		9	1746	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		423					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.1268C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746182	0.49151	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.69175	-0.38;0.2;0.2	4.67	4.67	0.58626	.	0.205916	0.40640	N	0.001057	T	0.78767	0.4335	M	0.63843	1.955	0.54753	D	0.999989	D	0.76494	0.999	D	0.64237	0.923	T	0.81846	-0.0745	10	0.87932	D	0	-23.0293	17.56	0.87903	0.0:0.0:1.0:0.0	.	423	Q9UKD1	GMEB2_HUMAN	L	372;423;423	ENSP00000359086:P372L;ENSP00000359094:P423L;ENSP00000266068:P423L	ENSP00000266068:P423L	P	-	2	0	GMEB2	61692211	1.000000	0.71417	0.284000	0.24805	0.027000	0.11550	4.713000	0.61895	2.311000	0.77944	0.561000	0.74099	CCG		0.692	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	11	0	0	0	1	0	5	11				
PABPC5	140886	broad.mit.edu	37	X	90691155	90691155	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691155G>A	ENST00000312600.3	+	2	793	c.579G>A	c.(577-579)agG>agA	p.R193R	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Silent_p.R29R	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	193						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAACCAGGGATAGAGCAA	0.473																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(577-579)agG>agA		poly(A) binding protein, cytoplasmic 5							37.0	38.0	37.0					X																	90691155		2203	4300	6503	SO:0001819	synonymous_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691155G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.579G>A	X.37:g.90691155G>A						PABPC5_ENST00000373105.1_Silent_p.R29R	p.R193R	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	793	+			193					A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	ENST00000312600.3	37	c.579G>A	CCDS14460.1																																																																																				0.473	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		27	31	0	0	0	1	0	27	31				
DNAH11	8701	broad.mit.edu	37	7	21784504	21784504	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21784504T>G	ENST00000409508.3	+	51	8364	c.8333T>G	c.(8332-8334)aTg>aGg	p.M2778R	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2785R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2785					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						GATAGTCACATGCTGCTTCAA	0.478									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.(8353-8355)aTg>aGg		dynein, axonemal, heavy chain 11							68.0	63.0	65.0					7																	21784504		1977	4170	6147	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.chr7:21784504T>G	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.8333T>G	7.37:g.21784504T>G	ENSP00000475939:p.Met2778Arg					DNAH11_ENST00000409508.3_Missense_Mutation_p.M2778R	p.M2785R			Q96DT5	DYH11_HUMAN			52	8385	+			2785					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.8354T>G		.	.	.	.	.	.	.	.	.	.	T	4.768	0.142843	0.09083	.	.	ENSG00000105877	ENST00000328843	T	0.21734	1.99	5.4	-3.48	0.04739	.	1.545090	0.03713	N	0.250568	T	0.14270	0.0345	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.28427	-1.0044	9	0.40728	T	0.16	.	6.3831	0.21546	0.1172:0.3912:0.0:0.4916	.	2785	Q96DT5	DYH11_HUMAN	R	2785	ENSP00000330671:M2785R	ENSP00000330671:M2785R	M	+	2	0	DNAH11	21751029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.008000	0.13197	-0.966000	0.03587	-0.256000	0.11100	ATG		0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	13	0	0	0	1	0	7	13				
MAGEE1	57692	broad.mit.edu	37	X	75649270	75649270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75649270C>T	ENST00000361470.2	+	1	1225	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	316	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GGTGAGGGATCGAGCACCTCC	0.711																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(946-948)tCg>tTg		melanoma antigen family E, 1							22.0	21.0	22.0					X																	75649270		2201	4294	6495	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649270C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.947C>T	X.37:g.75649270C>T	ENSP00000354912:p.Ser316Leu						p.S316L	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1225	+			316			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.947C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	c	2.168	-0.390573	0.04932	.	.	ENSG00000198934	ENST00000361470	T	0.09723	2.95	1.95	-3.9	0.04181	.	.	.	.	.	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40850	-0.9541	9	0.21014	T	0.42	.	1.1406	0.01765	0.2069:0.4228:0.1423:0.228	.	316	Q9HCI5	MAGE1_HUMAN	L	316	ENSP00000354912:S316L	ENSP00000354912:S316L	S	+	2	0	MAGEE1	75565674	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.763000	0.04740	-1.790000	0.01263	-1.261000	0.01458	TCG		0.711	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		13	24	0	0	0	1	0	13	24				
SLC30A10	55532	broad.mit.edu	37	1	220089093	220089093	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:220089093C>T	ENST00000366926.3	-	4	1317	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.D141N	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	386					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCCTTCAAGTCCACATTTTCA	0.512																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(1156-1158)Gac>Aac		solute carrier family 30, member 10							117.0	112.0	114.0					1																	220089093		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220089093C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1156G>A	1.37:g.220089093C>T	ENSP00000355893:p.Asp386Asn					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.D141N	p.D386N	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1317	-			386					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.1156G>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031828	0.93575	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.67523	-0.27;0.37	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	L	0.31752	0.955	0.80722	D	1	D	0.61080	0.989	P	0.55965	0.788	T	0.65232	-0.6218	9	.	.	.	-56.6991	18.7178	0.91682	0.0:1.0:0.0:0.0	.	386	Q6XR72	ZNT10_HUMAN	N	386;141	ENSP00000355893:D386N;ENSP00000439489:D141N	.	D	-	1	0	SLC30A10	218155716	0.995000	0.38212	0.853000	0.33588	0.983000	0.72400	3.178000	0.50879	2.857000	0.98124	0.650000	0.86243	GAC		0.512	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		24	43	0	0	0	1	0	24	43				
TTN	7273	broad.mit.edu	37	2	179500735	179500735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179500735C>T	ENST00000591111.1	-	176	36864	c.36640G>A	c.(36640-36642)Gaa>Aaa	p.E12214K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4982K|TTN_ENST00000342992.6_Missense_Mutation_p.E11287K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13855K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4915K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4790K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12214	Ig-like 81.				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)			TTGGCGTTTTCCACAGTAACT	0.458																																						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.(41563-41565)Gaa>Aaa		titin							119.0	121.0	120.0					2																	179500735		1975	4168	6143	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179500735C>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.36640G>A	2.37:g.179500735C>T	ENSP00000465570:p.Glu12214Lys					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11287K|TTN_ENST00000591111.1_Missense_Mutation_p.E12214K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4915K|TTN_ENST00000342175.6_Missense_Mutation_p.E4982K|TTN_ENST00000460472.2_Missense_Mutation_p.E4790K|TTN-AS1_ENST00000585451.1_RNA	p.E13855K	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)		226	41787	-			12214					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.41563G>A		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679341	0.68042	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13970	0.0338	L	0.45470	1.425	0.80722	D	1	D;D;D;D	0.56746	0.977;0.977;0.977;0.977	P;P;P;P	0.55011	0.766;0.766;0.766;0.766	T	0.00061	-1.2160	9	0.87932	D	0	.	19.8548	0.96752	0.0:1.0:0.0:0.0	.	4790;4915;4982;12214	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11287;4790;4982;4915;4790	ENSP00000343764:E11287K;ENSP00000434586:E4790K;ENSP00000340554:E4982K;ENSP00000352154:E4915K	ENSP00000340554:E4982K	E	-	1	0	TTN	179208980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.800000	0.69108	2.704000	0.92352	0.585000	0.79938	GAA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	58	0	0	0	1	0	41	58				
SYT11	23208	broad.mit.edu	37	1	155838038	155838038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155838038G>A	ENST00000368324.4	+	2	570	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	106					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CTGCTAAGCCGAGACAAAGAT	0.512																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(316-318)cGa>cAa		synaptotagmin XI							89.0	88.0	89.0					1																	155838038		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838038G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.317G>A	1.37:g.155838038G>A	ENSP00000357307:p.Arg106Gln					SYT11_ENST00000539162.1_Intron	p.R106Q	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	570	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		106					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.317G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	0.711	-0.787022	0.02907	.	.	ENSG00000132718	ENST00000368324	T	0.41400	1.0	5.66	-4.26	0.03755	.	1.001520	0.08050	N	0.996506	T	0.05593	0.0147	N	0.08118	0	0.33866	D	0.634394	B	0.02656	0.0	B	0.01281	0.0	T	0.27706	-1.0066	10	0.08837	T	0.75	.	8.3401	0.32239	0.3747:0.2056:0.4196:0.0	.	106	Q9BT88	SYT11_HUMAN	Q	106	ENSP00000357307:R106Q	ENSP00000357307:R106Q	R	+	2	0	SYT11	154104662	0.000000	0.05858	0.001000	0.08648	0.354000	0.29330	-0.295000	0.08298	-1.327000	0.02264	-0.736000	0.03550	CGA		0.512	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		49	53	0	0	0	1	0	49	53				
PTPN6	5777	broad.mit.edu	37	12	7064398	7064398	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7064398G>A	ENST00000318974.9	+	5	845	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PTPN6_ENST00000399448.1_Missense_Mutation_p.E203K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E162K|PTPN6_ENST00000456013.1_Missense_Mutation_p.E201K	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	201	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGGGATTGAGGAGGCCTCAGG	0.622																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(601-603)Gag>Aag		protein tyrosine phosphatase, non-receptor type 6							111.0	120.0	117.0					12																	7064398		2002	4156	6158	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064398G>A		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.601G>A	12.37:g.7064398G>A	ENSP00000326010:p.Glu201Lys					PTPN6_ENST00000399448.1_Missense_Mutation_p.E203K|PTPN6_ENST00000318974.9_Missense_Mutation_p.E201K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E162K	p.E201K	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			5	843	+			201			SH2 2.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.601G>A	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	35	5.574569	0.96553	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.33	4.33	0.51752	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	L	0.52573	1.65	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;0.991;0.997;0.627	D;D;P;D;P	0.74674	0.964;0.984;0.868;0.944;0.641	T	0.75619	-0.3255	10	0.48119	T	0.1	.	17.1746	0.86838	0.0:0.0:1.0:0.0	.	189;162;201;201;203	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	K	203;162;201;201	ENSP00000382376:E203K;ENSP00000415979:E162K;ENSP00000326010:E201K;ENSP00000391592:E201K	ENSP00000326010:E201K	E	+	1	0	PTPN6	6934659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.324000	0.96373	2.115000	0.64714	0.491000	0.48974	GAG		0.622	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		55	77	0	0	0	1	0	55	77				
ZNF285	26974	broad.mit.edu	37	19	44891418	44891418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44891418G>A	ENST00000330997.4	-	4	1053	c.989C>T	c.(988-990)tCc>tTc	p.S330F	ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	330					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTTGTGAAGGGAAGAGCTGCG	0.473																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(988-990)tCc>tTc		zinc finger protein 285							96.0	96.0	96.0					19																	44891418		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891418G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.989C>T	19.37:g.44891418G>A	ENSP00000333595:p.Ser330Phe					ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F	p.S330F	NM_152354.3	NP_689567.3					4	1053	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.989C>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086316	0.36855	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.16457	2.34	3.38	-0.7	0.11273	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	L	0.60904	1.88	0.09310	N	1	D;B	0.55172	0.97;0.001	P;B	0.58721	0.844;0.005	T	0.27468	-1.0073	9	0.10636	T	0.68	.	5.3878	0.16227	0.0:0.2656:0.2781:0.4562	.	354;330	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	F	353;330	ENSP00000333595:S330F	ENSP00000333595:S330F	S	-	2	0	ZNF285	49583258	0.000000	0.05858	0.025000	0.17156	0.604000	0.37047	-5.875000	0.00093	0.469000	0.27268	0.454000	0.30748	TCC		0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		32	61	0	0	0	1	0	32	61				
OR6Y1	391112	broad.mit.edu	37	1	158516955	158516955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158516955C>T	ENST00000302617.3	-	1	940	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGCCCACTTCCTCTGCAATG	0.458																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(940-942)gGa>gAa		olfactory receptor, family 6, subfamily Y, member 1							104.0	97.0	99.0					1																	158516955		2202	4300	6502	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158516955C>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.941G>A	1.37:g.158516955C>T	ENSP00000304807:p.Gly314Glu						p.G314E	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	940	-	all_hematologic(112;0.0378)		314					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.941G>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	C	7.880	0.730002	0.15507	.	.	ENSG00000197532	ENST00000302617	T	0.37411	1.2	5.26	-0.00727	0.14010	.	0.810533	0.10327	N	0.688057	T	0.03136	0.0092	N	0.11560	0.145	0.09310	N	1	B	0.24823	0.112	B	0.19148	0.024	T	0.38628	-0.9652	10	0.02654	T	1	.	0.8465	0.01162	0.16:0.3718:0.1554:0.3128	.	314	Q8NGX8	OR6Y1_HUMAN	E	314	ENSP00000304807:G314E	ENSP00000304807:G314E	G	-	2	0	OR6Y1	156783579	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.745000	0.26259	0.364000	0.24374	-0.150000	0.13652	GGA		0.458	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		10	51	0	0	0	1	0	10	51				
GPR179	440435	broad.mit.edu	37	17	36483193	36483193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36483193G>A	ENST00000342292.4	-	11	6279	c.6259C>T	c.(6259-6261)Cca>Tca	p.P2087S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2087					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGGCTGTGGGGACAGACCC	0.577																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(6259-6261)Cca>Tca		G protein-coupled receptor 179							97.0	97.0	97.0					17																	36483193		2066	4203	6269	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483193G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6259C>T	17.37:g.36483193G>A	ENSP00000345060:p.Pro2087Ser					GPR179_ENST00000584976.1_Intron	p.P2087S	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	6279	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2087						Missense_Mutation	SNP	ENST00000342292.4	37	c.6259C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177113	0.06380	.	.	ENSG00000188888	ENST00000342292	T	0.48836	0.8	4.5	2.29	0.28610	.	0.423527	0.17560	N	0.169857	T	0.35278	0.0926	L	0.49126	1.545	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.27054	-1.0085	10	0.51188	T	0.08	-7.1487	2.8962	0.05691	0.2494:0.269:0.4815:0.0	.	2087	Q6PRD1	GP179_HUMAN	S	2087	ENSP00000345060:P2087S	ENSP00000345060:P2087S	P	-	1	0	GPR179	33736719	0.007000	0.16637	0.009000	0.14445	0.164000	0.22412	1.059000	0.30517	1.070000	0.40811	0.313000	0.20887	CCA		0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			44	77	0	0	0	1	0	44	77				
THRAP3	9967	broad.mit.edu	37	1	36752626	36752626	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752626C>T	ENST00000354618.5	+	4	1019	c.795C>T	c.(793-795)ccC>ccT	p.P265P	THRAP3_ENST00000469141.2_Silent_p.P265P	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	265	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCGGTCACCCCGTCCTAGCC	0.622			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(793-795)ccC>ccT		thyroid hormone receptor associated protein 3							63.0	63.0	63.0					1																	36752626		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752626C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.795C>T	1.37:g.36752626C>T						THRAP3_ENST00000469141.2_Silent_p.P265P	p.P265P	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1019	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	265			Ser-rich.		D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.795C>T	CCDS405.1																																																																																				0.622	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		43	39	0	0	0	1	0	43	39				
COL9A3	1299	broad.mit.edu	37	20	61468564	61468564	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468564G>A	ENST00000343916.3	+	30	1736	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGCGCTCGAGGACCCCCTGGA	0.677																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1732-1734)gGa>gAa		collagen, type IX, alpha 3							31.0	42.0	38.0					20																	61468564		2199	4296	6495	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61468564G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1733G>A	20.37:g.61468564G>A	ENSP00000341640:p.Gly578Glu					COL9A3_ENST00000462700.1_3'UTR	p.G578E	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			30	1736	+	Breast(26;5.68e-08)		578			Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1733G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876305	0.91664	.	.	ENSG00000092758	ENST00000343916	D	0.99176	-5.52	4.8	4.8	0.61643	.	0.052779	0.85682	D	0.000000	D	0.99563	0.9843	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.97771	1.0226	10	0.87932	D	0	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	81;578	Q9BT15;Q14050	.;CO9A3_HUMAN	E	578	ENSP00000341640:G578E	ENSP00000341640:G578E	G	+	2	0	COL9A3	60939009	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.447000	0.80620	2.211000	0.71520	0.561000	0.74099	GGA		0.677	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		34	56	0	0	0	1	0	34	56				
ZBTB40	9923	broad.mit.edu	37	1	22835697	22835697	+	Missense_Mutation	SNP	G	G	C	rs150068799		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22835697G>C	ENST00000375647.4	+	9	2011	c.1804G>C	c.(1804-1806)Gag>Cag	p.E602Q	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E490Q|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E602Q	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	602					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TACCTCGGAGGAGGAGCACCT	0.473																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1804-1806)Gag>Cag		zinc finger and BTB domain containing 40							115.0	119.0	117.0					1																	22835697		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22835697G>C	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1804G>C	1.37:g.22835697G>C	ENSP00000364798:p.Glu602Gln					ZBTB40_ENST00000375647.4_Missense_Mutation_p.E602Q|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E490Q	p.E602Q	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	10	2315	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	602					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1804G>C	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600705	0.46423	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	D;D;D	0.82526	-1.62;-1.62;-1.62	5.95	4.0	0.46444	.	0.361952	0.23284	N	0.049873	T	0.75838	0.3904	L	0.34521	1.04	0.38616	D	0.951024	B;B	0.24426	0.103;0.062	B;B	0.22880	0.042;0.031	T	0.76285	-0.3015	10	0.62326	D	0.03	-7.3571	14.347	0.66672	0.0:0.2788:0.7212:0.0	.	490;602	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Q	602;602;490	ENSP00000384527:E602Q;ENSP00000364798:E602Q;ENSP00000363782:E490Q	ENSP00000363782:E490Q	E	+	1	0	ZBTB40	22708284	1.000000	0.71417	0.990000	0.47175	0.605000	0.37080	1.766000	0.38491	1.496000	0.48567	0.655000	0.94253	GAG		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		13	51	0	0	0	1	0	13	51				
MAST1	22983	broad.mit.edu	37	19	12962939	12962939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12962939C>T	ENST00000251472.4	+	9	926	c.887C>T	c.(886-888)cCc>cTc	p.P296L	MAST1_ENST00000591495.1_Missense_Mutation_p.P292L	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GAATTCAACCCCGAGGAGTTC	0.652																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(886-888)cCc>cTc		microtubule associated serine/threonine kinase 1							57.0	64.0	62.0					19																	12962939		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12962939C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.887C>T	19.37:g.12962939C>T	ENSP00000251472:p.Pro296Leu					MAST1_ENST00000591495.1_Missense_Mutation_p.P292L	p.P296L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			9	926	+			296						Missense_Mutation	SNP	ENST00000251472.4	37	c.887C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107259	0.94292	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.52754	0.65	5.48	5.48	0.80851	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.82123	-0.0613	10	0.87932	D	0	-28.5414	17.2264	0.86971	0.0:1.0:0.0:0.0	.	296;296	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	L	296	ENSP00000251472:P296L	ENSP00000251472:P296L	P	+	2	0	MAST1	12823939	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	7.762000	0.85270	2.761000	0.94854	0.585000	0.79938	CCC		0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		34	71	0	0	0	1	0	34	71				
IDS	3423	broad.mit.edu	37	X	148568459	148568459	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568459G>A	ENST00000340855.6	-	8	1386	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	IDS_ENST00000490775.1_5'Flank|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.P182S|IDS_ENST00000422081.2_Missense_Mutation_p.P182S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTATACCTGGCTCCATCAAC	0.433																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1177-1179)Cca>Tca		iduronate 2-sulfatase							53.0	53.0	53.0					X																	148568459		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148568459G>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1177C>T	X.37:g.148568459G>A	ENSP00000339801:p.Pro393Ser					IDS_ENST00000541269.1_Missense_Mutation_p.P182S|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	p.P393S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			8	1386	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		393					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.1177C>T	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	g	11.77	1.737089	0.30774	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99905	-7.7;-7.7	5.27	2.14	0.27477	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.568597	0.18201	N	0.148506	D	0.99387	0.9784	L	0.49571	1.57	0.58432	D	0.99999	B;B	0.09022	0.0;0.002	B;B	0.10450	0.005;0.005	D	0.99991	1.4483	10	0.16420	T	0.52	.	8.8115	0.34969	0.0:0.1371:0.518:0.3449	.	303;393	B4DGD7;P22304	.;IDS_HUMAN	S	393;182	ENSP00000339801:P393S;ENSP00000441261:P182S	ENSP00000339801:P393S	P	-	1	0	IDS	148376364	0.743000	0.28239	0.197000	0.23402	0.700000	0.40528	0.797000	0.26999	0.045000	0.15804	0.525000	0.51046	CCA		0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			30	40	0	0	0	1	0	30	40				
GABARAPL3	23766	broad.mit.edu	37	15	90892082	90892082	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:90892082C>T	ENST00000412799.2	-	1	587	c.348G>A	c.(346-348)ggG>ggA	p.G116G				Q9BY60	GBRL3_HUMAN	GABA(A) receptors associated protein like 3, pseudogene	116		Cleavage; by ATG4B. {ECO:0000250}.			autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)											CCACTCATTTCCCATAGACAC	0.527																																						ENST00000412799.2																			0											c.(346-348)ggG>ggA																																						SO:0001819	synonymous_variant	23766							g.chr15:90892082C>T	AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244			4069	pseudogene	pseudogene			"""GABA(A) receptors associated protein like 3"", ""GABA(A) receptors associated protein like 3 (pseudogene)"""			11414770	Standard	NR_028287		Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.348G>A	15.37:g.90892082C>T							p.G116G							1	587	-									Silent	SNP	ENST00000412799.2	37	c.348G>A																																																																																					0.527	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028287		3	13	0	0	0	1	0	3	13				
PANK4	55229	broad.mit.edu	37	1	2445840	2445840	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2445840G>A	ENST00000378466.3	-	11	1452	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	PANK4_ENST00000435556.3_Silent_p.F441F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	480					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTTCTGCCGGAACTTCTCCG	0.627																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(1438-1440)ttC>ttT		pantothenate kinase 4							69.0	71.0	70.0					1																	2445840		2203	4300	6503	SO:0001819	synonymous_variant	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2445840G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1440C>T	1.37:g.2445840G>A						PANK4_ENST00000435556.3_Silent_p.F441F	p.F480F	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1452	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	480					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Silent	SNP	ENST00000378466.3	37	c.1440C>T	CCDS42.1																																																																																				0.627	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			34	27	0	0	0	1	0	34	27				
CDON	50937	broad.mit.edu	37	11	125875950	125875950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125875950G>A	ENST00000392693.3	-	9	1682	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	CDON_ENST00000263577.7_Missense_Mutation_p.P519S|CDON_ENST00000531738.1_5'Flank	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	519					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTTTCAAAAGGAACTGCAGGG	0.438																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1555-1557)Cct>Tct		cell adhesion associated, oncogene regulated							54.0	47.0	49.0					11																	125875950		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125875950G>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.1555C>T	11.37:g.125875950G>A	ENSP00000376458:p.Pro519Ser					CDON_ENST00000263577.7_Missense_Mutation_p.P519S	p.P519S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	9	1682	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	519					O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.1555C>T	CCDS58192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.68|15.68	2.905269|2.905269	0.52333|0.52333	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000392693;ENST00000263577|ENST00000534661	T;T|.	0.27256|.	1.68;1.68|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Immunoglobulin-like fold (1);|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.71581|0.71581	2.175|2.175	0.45390|0.45390	D|D	0.998375|0.998375	B;B|.	0.26876|.	0.101;0.162|.	B;B|.	0.31812|.	0.064;0.136|.	T|T	0.72178|0.72178	-0.4369|-0.4369	10|5	0.30078|.	T|.	0.28|.	-25.1794|-25.1794	14.7514|14.7514	0.69528|0.69528	0.0684:0.0:0.9316:0.0|0.0684:0.0:0.9316:0.0	.|.	519;519|.	Q4KMG0;Q4KMG0-2|.	CDON_HUMAN;.|.	S|F	519|494	ENSP00000376458:P519S;ENSP00000263577:P519S|.	ENSP00000263577:P519S|.	P|S	-|-	1|2	0|0	CDON|CDON	125381160|125381160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	4.671000|4.671000	0.61590|0.61590	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.438	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		14	33	0	0	0	1	0	14	33				
AFMID	125061	broad.mit.edu	37	17	76202114	76202114	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76202114G>A	ENST00000327898.5	+	10	892	c.883G>A	c.(883-885)Gac>Aac	p.D295N	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000409257.5_Missense_Mutation_p.D290N|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GACCCAGAAGGACAACGTGCT	0.552																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(868-870)Gac>Aac		arylformamidase							75.0	65.0	68.0					17																	76202114		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76202114G>A	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.883G>A	17.37:g.76202114G>A	ENSP00000328938:p.Asp295Asn					AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.D295N|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000591952.1_Intron	p.D290N	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		10	922	+			290						Missense_Mutation	SNP	ENST00000327898.5	37	c.868G>A	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	G	7.440	0.640484	0.14386	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	.	.	.	4.14	4.14	0.48551	.	0.481828	0.23023	N	0.052826	T	0.38719	0.1051	L	0.50919	1.6	0.22342	N	0.999186	P;P	0.40731	0.608;0.728	B;P	0.44359	0.261;0.447	T	0.18681	-1.0329	9	0.30078	T	0.28	-13.3528	7.721	0.28731	0.1142:0.0:0.8858:0.0	.	290;295	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	N	290;295	.	ENSP00000328938:D295N	D	+	1	0	AFMID	73713709	0.163000	0.22920	0.118000	0.21660	0.227000	0.25037	2.578000	0.46051	2.124000	0.65301	0.561000	0.74099	GAC		0.552	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		6	31	0	0	0	1	0	6	31				
ZNF189	7743	broad.mit.edu	37	9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104171026C>T	ENST00000339664.2	+	3	1105	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*|ZNF189_ENST00000374861.3_Nonsense_Mutation_p.R312*	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(934-936)Cga>Tga		zinc finger protein 189							91.0	96.0	94.0					9																	104171026		2203	4300	6503	SO:0001587	stop_gained	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171026C>T	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.976C>T	9.37:g.104171026C>T	ENSP00000342019:p.Arg326*					ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R326*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	p.R312*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1218	+		Acute lymphoblastic leukemia(62;0.0559)	326					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Nonsense_Mutation	SNP	ENST00000339664.2	37	c.934C>T	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518361	0.85495	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	.	.	.	4.79	3.66	0.41972	.	0.000000	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	10.3015	0.43654	0.8251:0.1749:0.0:0.0	.	.	.	.	X	312;326;284	.	ENSP00000259395:R284X	R	+	1	2	ZNF189	103210847	0.255000	0.24002	1.000000	0.80357	0.990000	0.78478	1.609000	0.36858	1.162000	0.42619	-0.262000	0.10625	CGA		0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		86	18	0	0	0	1	0	86	18				
ERMN	57471	broad.mit.edu	37	2	158177885	158177885	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:158177885G>A	ENST00000410096.1	-	3	1044	c.753C>T	c.(751-753)tcC>tcT	p.S251S	ERMN_ENST00000535935.1_Silent_p.S145S|ERMN_ENST00000397283.2_Silent_p.S264S|ERMN_ENST00000420719.2_Silent_p.S231S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	251					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAGCATTTCTGGAGATATCAC	0.428																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(751-753)tcC>tcT		ermin, ERM-like protein							165.0	164.0	165.0					2																	158177885		1974	4146	6120	SO:0001819	synonymous_variant	57471					cytoplasm|cytoskeleton		g.chr2:158177885G>A	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.753C>T	2.37:g.158177885G>A						ERMN_ENST00000397283.2_Silent_p.S264S|ERMN_ENST00000535935.1_Silent_p.S145S|ERMN_ENST00000420719.2_Silent_p.S231S	p.S251S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	1044	-			251					B4DKA6|Q9ULN1	Silent	SNP	ENST00000410096.1	37	c.753C>T	CCDS46431.1																																																																																				0.428	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		52	96	0	0	0	1	0	52	96				
FRYL	285527	broad.mit.edu	37	4	48542846	48542846	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542846T>A	ENST00000503238.1	-	43	5818	c.5819A>T	c.(5818-5820)aAc>aTc	p.N1940I	FRYL_ENST00000537810.1_Missense_Mutation_p.N1940I|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.N1940I|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCAAAGAGTTACTTCTTGC	0.413																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5818-5820)aAc>aTc		FRY-like							123.0	114.0	117.0					4																	48542846		1887	4107	5994	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542846T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5819A>T	4.37:g.48542846T>A	ENSP00000426064:p.Asn1940Ile					FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.N1940I|FRYL_ENST00000503238.1_Missense_Mutation_p.N1940I|FRYL_ENST00000264319.7_5'UTR	p.N1940I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			46	6423	-			1940					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.5819A>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.24|12.24	1.879714|1.879714	0.33162|0.33162	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.23147|.	1.92;1.92;1.92|.	6.16|6.16	2.31|2.31	0.28768|0.28768	Armadillo-type fold (1);|.	0.129409|.	0.64402|.	D|.	0.000002|.	T|.	0.59569|.	0.2203|.	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;P;P|.	0.76494|.	0.999;0.67;0.778|.	D;B;B|.	0.80764|.	0.994;0.109;0.219|.	T|.	0.52358|.	-0.8586|.	10|.	0.21014|.	T|.	0.42|.	.|.	7.3339|7.3339	0.26599|0.26599	0.0:0.1266:0.122:0.7514|0.0:0.1266:0.122:0.7514	.|.	770;1940;1940|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	I|Y	1940|809	ENSP00000426064:N1940I;ENSP00000351113:N1940I;ENSP00000441114:N1940I|.	ENSP00000351113:N1940I|.	N|X	-|-	2|3	0|2	FRYL|FRYL	48237603|48237603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	4.631000|4.631000	0.61304|0.61304	0.178000|0.178000	0.19917|0.19917	-0.297000|-0.297000	0.09499|0.09499	AAC|TAA		0.413	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			19	27	0	0	0	1	0	19	27				
PFKP	5214	broad.mit.edu	37	10	3175453	3175453	+	Missense_Mutation	SNP	G	G	A	rs536981324		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:3175453G>A	ENST00000381125.4	+	19	2045	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	PFKP_ENST00000381075.2_Missense_Mutation_p.E649K|PFKP_ENST00000381072.1_Missense_Mutation_p.E75K	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	657	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)		GTATTCAGAAGAGGGCAAAGG	0.522																																						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.(1945-1947)Gag>Aag		phosphofructokinase, platelet							157.0	153.0	154.0					10																	3175453		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3175453G>A	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.1969G>A	10.37:g.3175453G>A	ENSP00000370517:p.Glu657Lys					PFKP_ENST00000381072.1_Missense_Mutation_p.E75K|PFKP_ENST00000381125.4_Missense_Mutation_p.E657K	p.E649K	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	21	2169	+			657					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1945G>A	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	g	19.54	3.846540	0.71603	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	T;T;T	0.80994	-1.44;-1.44;-1.44	5.28	5.28	0.74379	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90467	0.4450	10	0.87932	D	0	.	18.9486	0.92632	0.0:0.0:1.0:0.0	.	649;649;657	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	K	657;646;649;75	ENSP00000370517:E657K;ENSP00000370465:E649K;ENSP00000370462:E75K	ENSP00000370462:E75K	E	+	1	0	PFKP	3165453	1.000000	0.71417	0.099000	0.21106	0.003000	0.03518	9.436000	0.97532	2.479000	0.83701	0.655000	0.94253	GAG		0.522	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		70	117	0	0	0	1	0	70	117				
PIP5K1A	8394	broad.mit.edu	37	1	151205158	151205158	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151205158G>A	ENST00000368888.4	+	7	1040	c.618G>A	c.(616-618)aaG>aaA	p.K206K	PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Silent_p.K193K|PIP5K1A_ENST00000409426.1_Silent_p.K194K|PIP5K1A_ENST00000441902.2_Silent_p.K194K	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	206	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGCAGAAGCTGCTTCCAG	0.498																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(580-582)aaG>aaA		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							85.0	80.0	82.0					1																	151205158		2203	4300	6503	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205158G>A	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.618G>A	1.37:g.151205158G>A						PIP5K1A_ENST00000368888.4_Silent_p.K206K|PIP5K1A_ENST00000368890.4_Silent_p.K193K|PIP5K1A_ENST00000441902.2_Silent_p.K194K	p.K194K			Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1027	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		206			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.582G>A	CCDS44219.1																																																																																				0.498	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		9	41	0	0	0	1	0	9	41				
ARHGAP21	57584	broad.mit.edu	37	10	24908777	24908777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908777G>A	ENST00000396432.2	-	9	2533	c.2047C>T	c.(2047-2049)Ccc>Tcc	p.P683S	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P470S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	682					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATAAAGAGGGGGATTTCCCA	0.483																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2047-2049)Ccc>Tcc		Rho GTPase activating protein 21							55.0	54.0	55.0					10																	24908777		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908777G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2047C>T	10.37:g.24908777G>A	ENSP00000379709:p.Pro683Ser					ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P470S	p.P683S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	2533	-			682					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2047C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.088215	0.00367	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.39787	3.02;3.1;1.06;1.08	5.36	2.39	0.29439	.	0.429039	0.27700	N	0.018218	T	0.17619	0.0423	N	0.11927	0.2	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.13407	0.009;0.005	T	0.31530	-0.9940	10	0.02654	T	1	.	6.0596	0.19830	0.2246:0.2511:0.5243:0.0	.	673;682	F8W9U9;Q5T5U3	.;RHG21_HUMAN	S	683;470;673;683;518	ENSP00000379709:P683S;ENSP00000365604:P470S;ENSP00000365592:P673S;ENSP00000405018:P683S	ENSP00000365604:P470S	P	-	1	0	ARHGAP21	24948783	0.851000	0.29673	0.006000	0.13384	0.125000	0.20455	1.101000	0.31037	0.291000	0.22468	-0.140000	0.14226	CCC		0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		17	36	0	0	0	1	0	17	36				
ZDHHC8	29801	broad.mit.edu	37	22	20129013	20129013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20129013C>T	ENST00000334554.7	+	9	1226	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270L|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	362					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCGGCTTTCCCCACGGGTCCC	0.657																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1084-1086)cCc>cTc		zinc finger, DHHC-type containing 8							57.0	57.0	57.0					22																	20129013		2201	4299	6500	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20129013C>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1085C>T	22.37:g.20129013C>T	ENSP00000334490:p.Pro362Leu					ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270L|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362L	p.P362L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			9	1226	+	Colorectal(54;0.0993)		362					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1085C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.227274	0.39399	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.71579	1.42;-0.58;1.4	5.25	4.17	0.49024	.	1.155160	0.06965	N	0.817064	T	0.64594	0.2612	N	0.08118	0	0.38987	D	0.959069	B;B;B	0.28880	0.226;0.222;0.02	B;B;B	0.43445	0.42;0.199;0.017	T	0.58092	-0.7697	10	0.59425	D	0.04	.	12.1489	0.54038	0.0:0.7086:0.2914:0.0	.	270;362;362	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	L	362;270;362	ENSP00000334490:P362L;ENSP00000317804:P270L;ENSP00000384716:P362L	ENSP00000317804:P270L	P	+	2	0	ZDHHC8	18509013	1.000000	0.71417	0.377000	0.26055	0.103000	0.19146	3.911000	0.56378	2.462000	0.83206	0.645000	0.84053	CCC		0.657	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		9	21	0	0	0	1	0	9	21				
OR4C15	81309	broad.mit.edu	37	11	55321984	55321984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55321984G>A	ENST00000314644.2	+	1	202	c.202G>A	c.(202-204)Gga>Aga	p.G68R		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCCTCCTGGGACTTTCACA	0.383										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(202-204)Gga>Aga		olfactory receptor, family 4, subfamily C, member 15							126.0	131.0	129.0					11																	55321984		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321984G>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.202G>A	11.37:g.55321984G>A	ENSP00000324958:p.Gly68Arg	HNSCC(20;0.049)					p.G68R	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	202	+			14					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.202G>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826203	0.50739	.	.	ENSG00000181939	ENST00000314644	T	0.02301	4.35	5.12	5.12	0.69794	.	.	.	.	.	T	0.11110	0.0271	H	0.95365	3.66	0.26071	N	0.981222	P	0.45594	0.862	B	0.43360	0.417	T	0.14008	-1.0488	9	0.87932	D	0	.	16.0842	0.81025	0.0:0.0:1.0:0.0	.	14	Q8NGM1	OR4CF_HUMAN	R	68	ENSP00000324958:G68R	ENSP00000324958:G68R	G	+	1	0	OR4C15	55078560	1.000000	0.71417	0.975000	0.42487	0.541000	0.35023	5.624000	0.67764	2.665000	0.90641	0.385000	0.25706	GGA		0.383	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		55	79	0	0	0	1	0	55	79				
SERPINA7	6906	broad.mit.edu	37	X	105279276	105279276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105279276C>T	ENST00000327674.4	-	2	1058	c.723G>A	c.(721-723)atG>atA	p.M241I	SERPINA7_ENST00000372563.1_Missense_Mutation_p.M241I|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	241					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTATTGTTCCATCTGGTGCA	0.458																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(721-723)atG>atA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						230.0	188.0	202.0					X																	105279276		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279276C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.723G>A	X.37:g.105279276C>T	ENSP00000329374:p.Met241Ile					SERPINA7_ENST00000372563.1_Missense_Mutation_p.M241I	p.M241I			P05543	THBG_HUMAN			2	1058	-			241					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.723G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.109010	0.06924	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84070	-1.8;-1.8	4.41	-0.421	0.12332	Serpin domain (3);	0.924840	0.09126	N	0.845085	T	0.67496	0.2899	N	0.25647	0.755	0.09310	N	0.999999	B	0.18741	0.03	B	0.21360	0.034	T	0.49978	-0.8881	10	0.21014	T	0.42	.	3.123	0.06397	0.4734:0.2553:0.0:0.2713	.	241	P05543	THBG_HUMAN	I	241	ENSP00000329374:M241I;ENSP00000361644:M241I	ENSP00000329374:M241I	M	-	3	0	SERPINA7	105165932	0.000000	0.05858	0.725000	0.30721	0.958000	0.62258	-2.973000	0.00666	0.012000	0.14892	0.594000	0.82650	ATG		0.458	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		62	78	0	0	0	1	0	62	78				
TMEM131	23505	broad.mit.edu	37	2	98382961	98382961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98382961C>T	ENST00000186436.5	-	34	4781	c.4553G>A	c.(4552-4554)cGa>cAa	p.R1518Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1518						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGGGCATTTCGTGATTTGGA	0.388																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4552-4554)cGa>cAa		transmembrane protein 131							158.0	150.0	153.0					2																	98382961		1894	4108	6002	SO:0001583	missense	23505					integral to membrane		g.chr2:98382961C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4553G>A	2.37:g.98382961C>T	ENSP00000186436:p.Arg1518Gln						p.R1518Q	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			34	4781	-			1518						Missense_Mutation	SNP	ENST00000186436.5	37	c.4553G>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402527	0.62288	.	.	ENSG00000075568	ENST00000186436	T	0.46819	0.86	5.55	4.68	0.58851	.	0.093332	0.47455	D	0.000222	T	0.33556	0.0867	L	0.29908	0.895	0.80722	D	1	B	0.16166	0.016	B	0.08055	0.003	T	0.09885	-1.0654	10	0.25751	T	0.34	-5.9029	10.5401	0.45029	0.0:0.8525:0.0:0.1475	.	1518	Q92545	TM131_HUMAN	Q	1518	ENSP00000186436:R1518Q	ENSP00000186436:R1518Q	R	-	2	0	TMEM131	97749393	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.361000	0.59461	1.344000	0.45657	-0.154000	0.13518	CGA		0.388	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		28	38	0	0	0	1	0	28	38				
IRX4	50805	broad.mit.edu	37	5	1880923	1880923	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880923G>A	ENST00000505790.1	-	4	779	c.323C>T	c.(322-324)tCg>tTg	p.S108L	IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGCAGATCCCGAACCATCCTT	0.632																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(322-324)tCg>tTg		iroquois homeobox 4							70.0	77.0	75.0					5																	1880923		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1880923G>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.323C>T	5.37:g.1880923G>A	ENSP00000423161:p.Ser108Leu					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L	p.S108L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	779	-			108					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.323C>T	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	9.421	1.082945	0.20309	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.12	4.03	4.03	0.46877	.	0.428141	0.20794	U	0.085571	T	0.46776	0.1410	L	0.27053	0.805	0.09310	N	1	B	0.24368	0.102	B	0.12156	0.007	T	0.37709	-0.9694	10	0.38643	T	0.18	-0.9	11.6835	0.51472	0.0:0.1807:0.8193:0.0	.	108	P78413	IRX4_HUMAN	L	108	ENSP00000231357:S108L;ENSP00000423161:S108L;ENSP00000424235:S108L;ENSP00000421772:S108L	ENSP00000231357:S108L	S	-	2	0	IRX4	1933923	0.001000	0.12720	0.087000	0.20705	0.180000	0.23129	0.968000	0.29357	1.801000	0.52704	0.557000	0.71058	TCG		0.632	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		21	66	0	0	0	1	0	21	66				
FOXO4	4303	broad.mit.edu	37	X	70316716	70316716	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70316716C>T	ENST00000374259.3	+	1	670	c.338C>T	c.(337-339)gCc>gTc	p.A113V	FOXO4_ENST00000341558.3_Splice_Site_p.A58V|FOXO4_ENST00000466874.1_3'UTR	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	113					cell cycle arrest (GO:0007050)|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)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					ATCAGCCAGGCCATTGAAAGC	0.587																																						ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(337-339)gCc>gTc		forkhead box O4							50.0	49.0	50.0					X																	70316716		2133	4264	6397	SO:0001583	missense	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70316716C>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.338C>T	X.37:g.70316716C>T	ENSP00000363377:p.Ala113Val					FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Splice_Site_p.A58_splice	p.A113V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			1	670	+	Renal(35;0.156)		113					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	ENST00000374259.3	37	c.338C>T	CCDS43969.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295931	0.81025	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.96913	-4.17;-4.17	4.69	3.82	0.43975	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	M	0.90814	3.15	0.58432	D	0.999999	B;B;D	0.89917	0.097;0.028;1.0	B;B;D	0.97110	0.117;0.058;1.0	D	0.98104	1.0416	10	0.87932	D	0	-20.9134	10.4225	0.44359	0.0:0.8991:0.0:0.1009	.	113;58;113	B4DTB6;P98177-2;P98177	.;.;FOXO4_HUMAN	V	113;58	ENSP00000363377:A113V;ENSP00000342209:A58V	ENSP00000342209:A58V	A	+	2	0	FOXO4	70233441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.388000	0.79795	0.898000	0.36418	0.523000	0.50628	GCC		0.587	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		13	15	0	0	0	1	0	13	15				
SLC43A1	8501	broad.mit.edu	37	11	57256729	57256729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57256729G>A	ENST00000278426.3	-	12	1685	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	SLC43A1_ENST00000528450.1_Missense_Mutation_p.L444F|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGTACCTGGAGGTGTAAGTTG	0.562																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1330-1332)Ctc>Ttc		solute carrier family 43 (amino acid system L transporter), member 1							308.0	228.0	255.0					11																	57256729		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256729G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1330C>T	11.37:g.57256729G>A	ENSP00000278426:p.Leu444Phe					SLC43A1_ENST00000528450.1_Missense_Mutation_p.L444F	p.L444F	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			12	1685	-			444						Missense_Mutation	SNP	ENST00000278426.3	37	c.1330C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744575	0.69418	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.60424	0.19;0.19	4.81	2.8	0.32819	Major facilitator superfamily domain, general substrate transporter (1);	0.166654	0.39210	N	0.001423	T	0.67163	0.2864	M	0.70595	2.14	0.41692	D	0.989353	D	0.76494	0.999	D	0.78314	0.991	T	0.64723	-0.6340	10	0.09590	T	0.72	-26.8454	9.9064	0.41379	0.0842:0.1427:0.7731:0.0	.	444	O75387	LAT3_HUMAN	F	444	ENSP00000278426:L444F;ENSP00000435673:L444F	ENSP00000278426:L444F	L	-	1	0	SLC43A1	57013305	0.108000	0.22018	0.976000	0.42696	0.894000	0.52154	0.272000	0.18644	2.222000	0.72286	0.462000	0.41574	CTC		0.562	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		23	38	0	0	0	1	0	23	38				
HSPA1L	3305	broad.mit.edu	37	6	31778766	31778766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31778766C>T	ENST00000375654.4	-	2	1173	c.984G>A	c.(982-984)atG>atA	p.M328I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	328					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCCTTATCCATCTTGGCAT	0.502																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(982-984)atG>atA		heat shock 70kDa protein 1-like							66.0	65.0	65.0					6																	31778766		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778766C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.984G>A	6.37:g.31778766C>T	ENSP00000364805:p.Met328Ile					HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I	p.M328I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1173	-			328					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.984G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847616	0.32606	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.00882	5.58;5.58	5.4	3.6	0.41247	.	0.000000	0.42053	D	0.000771	T	0.00328	0.0010	N	0.11927	0.2	0.38996	D	0.959242	B	0.02656	0.0	B	0.04013	0.001	T	0.53287	-0.8460	10	0.62326	D	0.03	-28.7497	7.5474	0.27775	0.0:0.7438:0.0:0.2562	.	328	P34931	HS71L_HUMAN	I	328;328;273	ENSP00000364805:M328I;ENSP00000387691:M328I	ENSP00000364804:M273I	M	-	3	0	HSPA1L	31886745	0.934000	0.31675	1.000000	0.80357	0.987000	0.75469	0.070000	0.14573	1.514000	0.48869	0.585000	0.79938	ATG		0.502	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			21	12	0	0	0	1	0	21	12				
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(820-822)ccG>ccA		melanoma antigen family B, 1							107.0	95.0	99.0					X																	30269432		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269432G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.822G>A	X.37:g.30269432G>A						MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	1143	+			274			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.822G>A	CCDS14222.1																																																																																				0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		59	58	0	0	0	1	0	59	58				
PSG2	5670	broad.mit.edu	37	19	43579506	43579506	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579506G>A	ENST00000406487.1	-	3	807	c.709C>T	c.(709-711)Cat>Tat	p.H237Y		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	237					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.532																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.e3+1		pregnancy specific beta-1-glycoprotein 2							193.0	205.0	201.0					19																	43579506		2202	4299	6501	SO:0001630	splice_region_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579506G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.709+1C>T	19.37:g.43579506G>A							p.H237_splice	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			3	807	-		Prostate(69;0.00682)	237					Q8TCD9|Q9UEA4|Q9UQ78	Splice_Site	SNP	ENST00000406487.1	37	c.709_splice	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.660828	0.00107	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.25579	1.79	1.33	-2.66	0.06077	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04272	0.0118	N	0.00215	-1.835	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.36890	-0.9729	8	.	.	.	.	4.4591	0.11657	0.5955:0.0:0.4045:0.0	.	237;237	B5MCM8;P11465	.;PSG2_HUMAN	Y	237	ENSP00000385706:H237Y	.	H	-	1	0	PSG2	48271346	0.072000	0.21174	0.003000	0.11579	0.001000	0.01503	-0.948000	0.03897	-0.942000	0.03695	-1.506000	0.00953	CAT		0.532	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246	Missense_Mutation	112	207	0	0	0	1	0	112	207				
STK33	65975	broad.mit.edu	37	11	8435192	8435192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:8435192C>T	ENST00000447869.1	-	11	2112	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	STK33_ENST00000396673.1_Intron|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.M398I|STK33_ENST00000534493.1_Missense_Mutation_p.M357I|STK33_ENST00000358872.3_Missense_Mutation_p.M211I|STK33_ENST00000315204.1_Missense_Mutation_p.M398I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	398					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCATTCCTTCATCATCTCTA	0.363																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(1192-1194)atG>atA		serine/threonine kinase 33							204.0	181.0	189.0					11																	8435192		2201	4296	6497	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8435192C>T	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1194G>A	11.37:g.8435192C>T	ENSP00000416750:p.Met398Ile					STK33_ENST00000534493.1_Missense_Mutation_p.M357I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.M211I|STK33_ENST00000315204.1_Missense_Mutation_p.M398I|STK33_ENST00000396672.1_Missense_Mutation_p.M398I|STK33_ENST00000396673.1_Intron	p.M398I			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	11	2112	-			398					Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.1194G>A	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529802	0.85706	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000534493	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.094194	0.64402	D	0.000001	T	0.31327	0.0793	L	0.47190	1.495	0.80722	D	1	D	0.53885	0.963	P	0.52343	0.696	T	0.00309	-1.1828	10	0.38643	T	0.18	.	15.7822	0.78269	0.0:1.0:0.0:0.0	.	398	Q9BYT3	STK33_HUMAN	I	398;398;398;211;357	ENSP00000416750:M398I;ENSP00000320754:M398I;ENSP00000379905:M398I;ENSP00000351743:M211I;ENSP00000436418:M357I	ENSP00000320754:M398I	M	-	3	0	STK33	8391768	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.600000	0.54052	2.786000	0.95864	0.563000	0.77884	ATG		0.363	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		41	49	0	0	0	1	0	41	49				
LRP1	4035	broad.mit.edu	37	12	57606240	57606240	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606240G>C	ENST00000243077.3	+	89	14003	c.13537G>C	c.(13537-13539)Ggg>Cgg	p.G4513R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB. {ECO:0000250}.				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)	ACTCTACATGGGGGGCCATGG	0.642																																						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.(13537-13539)Ggg>Cgg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						78.0	70.0	73.0					12																	57606240		2203	4300	6503	SO:0001583	missense	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.chr12:57606240G>C	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.13537G>C	12.37:g.57606240G>C	ENSP00000243077:p.Gly4513Arg						p.G4513R	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14003	+			4513			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13537G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210142	0.79240	.	.	ENSG00000123384	ENST00000243077	T	0.54071	0.59	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000055	T	0.69205	0.3085	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72286	-0.4338	10	0.66056	D	0.02	.	16.4793	0.84153	0.0:0.0:1.0:0.0	.	4513	Q07954	LRP1_HUMAN	R	4513	ENSP00000243077:G4513R	ENSP00000243077:G4513R	G	+	1	0	LRP1	55892507	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.206000	0.95056	2.403000	0.81681	0.491000	0.48974	GGG		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		16	42	0	0	0	1	0	16	42				
CEACAM7	1087	broad.mit.edu	37	19	42191006	42191006	+	Missense_Mutation	SNP	C	C	T	rs1049234		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42191006C>T	ENST00000006724.3	-	2	412	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	CEACAM7_ENST00000602225.1_Missense_Mutation_p.E71K|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.E71K|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E71K	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	71	Ig-like V-type.			E -> Q (in Ref. 3; AAB62924/AAB62925). {ECO:0000305}.		anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGCACCCTTTCCCCTTTGTAC	0.448																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(211-213)Gaa>Aaa		carcinoembryonic antigen-related cell adhesion molecule 7							116.0	122.0	120.0					19																	42191006		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42191006C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.211G>A	19.37:g.42191006C>T	ENSP00000006724:p.Glu71Lys					CEACAM7_ENST00000338196.4_Missense_Mutation_p.E71K|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E71K|CEACAM7_ENST00000602225.1_Missense_Mutation_p.E71K	p.E71K	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	412	-			71	E -> Q (in Ref. 3; AAB62924/AAB62925).		Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.211G>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155687	0.21454	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.01516	4.81;4.81;4.81	1.68	-0.585	0.11698	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02119	0.0066	L	0.48935	1.535	0.09310	N	1	B;B	0.20052	0.006;0.041	B;B	0.32928	0.013;0.155	T	0.48007	-0.9072	9	0.27785	T	0.31	.	3.836	0.08894	0.0:0.4991:0.0:0.5009	.	71;71	Q14002-2;Q14002	.;CEAM7_HUMAN	K	71	ENSP00000006724:E71K;ENSP00000385932:E71K;ENSP00000343286:E71K	ENSP00000006724:E71K	E	-	1	0	CEACAM7	46882846	0.000000	0.05858	0.023000	0.16930	0.226000	0.24999	-0.024000	0.12435	-0.121000	0.11787	0.313000	0.20887	GAA		0.448	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		46	107	0	0	0	1	0	46	107				
CA14	23632	broad.mit.edu	37	1	150237006	150237006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:150237006G>A	ENST00000369111.4	+	11	1931	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	321					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	GAAGAGGCTGGAAAACCGAAA	0.443																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(961-963)Gaa>Aaa		carbonic anhydrase XIV							95.0	76.0	83.0					1																	150237006		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150237006G>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.961G>A	1.37:g.150237006G>A	ENSP00000358107:p.Glu321Lys						p.E321K	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	1931	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		321					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.961G>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452971	0.43531	.	.	ENSG00000118298	ENST00000369111	T	0.67345	-0.26	5.67	3.76	0.43208	.	0.761930	0.12395	N	0.472697	T	0.23370	0.0565	N	0.08118	0	0.18873	N	0.999986	B	0.13594	0.008	B	0.14023	0.01	T	0.20505	-1.0273	10	0.36615	T	0.2	.	7.9938	0.30256	0.1936:0.0:0.8064:0.0	.	321	Q9ULX7	CAH14_HUMAN	K	321	ENSP00000358107:E321K	ENSP00000358107:E321K	E	+	1	0	CA14	148503630	0.988000	0.35896	0.969000	0.41365	0.983000	0.72400	1.452000	0.35156	0.718000	0.32166	0.643000	0.83706	GAA		0.443	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		16	24	0	0	0	1	0	16	24				
CCDC63	160762	broad.mit.edu	37	12	111342495	111342495	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111342495C>T	ENST00000308208.5	+	11	1688	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	CCDC63_ENST00000552694.1_Silent_p.N403N|CCDC63_ENST00000545036.1_Silent_p.N442N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	482										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCTTCATCAACCCTTTCTGGG	0.587																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1444-1446)aaC>aaT		coiled-coil domain containing 63							71.0	67.0	68.0					12																	111342495		2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111342495C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1446C>T	12.37:g.111342495C>T						CCDC63_ENST00000552694.1_Silent_p.N403N|CCDC63_ENST00000545036.1_Silent_p.N442N	p.N482N	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			11	1688	+			482					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1446C>T	CCDS9151.1																																																																																				0.587	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		39	90	0	0	0	1	0	39	90				
FOSL2	2355	broad.mit.edu	37	2	28627145	28627145	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627145C>T	ENST00000264716.4	+	2	1137	c.274C>T	c.(274-276)Cct>Tct	p.P92S	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Missense_Mutation_p.P53S|FOSL2_ENST00000379619.1_Missense_Mutation_p.P67S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	92					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGCCTCTGTCCCTGGACACAT	0.642																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(274-276)Cct>Tct		FOS-like antigen 2							109.0	106.0	107.0					2																	28627145		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28627145C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.274C>T	2.37:g.28627145C>T	ENSP00000264716:p.Pro92Ser					FOSL2_ENST00000545753.1_Missense_Mutation_p.P53S|FOSL2_ENST00000379619.1_Missense_Mutation_p.P67S|FOSL2_ENST00000460736.1_3'UTR	p.P92S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			2	1137	+	Acute lymphoblastic leukemia(172;0.155)		92					B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.274C>T	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632561	0.29068	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.78481	-1.09;-0.22;-1.16;-1.18	5.32	5.32	0.75619	.	0.241577	0.43416	D	0.000565	T	0.57257	0.2041	N	0.14661	0.345	0.31022	N	0.718014	B	0.17038	0.02	B	0.12156	0.007	T	0.52845	-0.8521	10	0.33141	T	0.24	-28.1424	4.7842	0.13217	0.1458:0.6119:0.1604:0.0819	.	92	P15408	FOSL2_HUMAN	S	67;92;53;53	ENSP00000368939:P67S;ENSP00000264716:P92S;ENSP00000396497:P53S;ENSP00000439303:P53S	ENSP00000264716:P92S	P	+	1	0	FOSL2	28480649	0.977000	0.34250	0.997000	0.53966	0.680000	0.39746	3.582000	0.53921	2.485000	0.83878	0.563000	0.77884	CCT		0.642	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		54	82	0	0	0	1	0	54	82				
EIF2B2	8892	broad.mit.edu	37	14	75475786	75475786	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75475786C>T	ENST00000266126.5	+	8	1031	c.951C>T	c.(949-951)ccC>ccT	p.P317P	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	317					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		ACTACGTTCCCCCAGAGCTCA	0.488																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(949-951)ccC>ccT		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							388.0	313.0	338.0					14																	75475786		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475786C>T		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.951C>T	14.37:g.75475786C>T							p.P317P	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1031	+			317					O43201	Silent	SNP	ENST00000266126.5	37	c.951C>T	CCDS9836.1																																																																																				0.488	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		68	121	0	0	0	1	0	68	121				
INO80	54617	broad.mit.edu	37	15	41348870	41348870	+	Missense_Mutation	SNP	G	G	A	rs370606160		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41348870G>A	ENST00000361937.3	-	17	2444	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	INO80_ENST00000401393.3_Missense_Mutation_p.R674W			Q9ULG1	INO80_HUMAN	INO80 complex subunit	674	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGCCGATTCCGACACTGGAAC	0.393																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2020-2022)Cgg>Tgg		INO80 complex subunit		G	TRP/ARG	0,4406		0,0,2203	209.0	200.0	203.0		2020	4.8	1.0	15		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	INO80	NM_017553.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	674/1557	41348870	1,13005	2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41348870G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2020C>T	15.37:g.41348870G>A	ENSP00000355205:p.Arg674Trp					INO80_ENST00000401393.3_Missense_Mutation_p.R674W	p.R674W			Q9ULG1	INO80_HUMAN			17	2444	-			674			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.2020C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668895	0.88348	0.0	1.16E-4	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93488	-3.23;-3.23	4.8	4.8	0.61643	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97515	1.0069	10	0.87932	D	0	.	18.424	0.90602	0.0:0.0:1.0:0.0	.	674	Q9ULG1	INO80_HUMAN	W	674	ENSP00000355205:R674W;ENSP00000384686:R674W	ENSP00000355205:R674W	R	-	1	2	INO80	39136162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.248000	0.72418	2.669000	0.90835	0.591000	0.81541	CGG		0.393	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		61	117	0	0	0	1	0	61	117				
HCRTR1	3061	broad.mit.edu	37	1	32089206	32089206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32089206G>A	ENST00000373706.5	+	5	974	c.821G>A	c.(820-822)gGa>gAa	p.G274E	HCRTR1_ENST00000373705.1_Missense_Mutation_p.G274E|HCRTR1_ENST00000403528.2_Missense_Mutation_p.G274E|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	274					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GGCCTGAGTGGAGAGCCCCAG	0.647																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(820-822)gGa>gAa		hypocretin (orexin) receptor 1							30.0	31.0	30.0					1																	32089206		2203	4300	6503	SO:0001583	missense	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32089206G>A	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.821G>A	1.37:g.32089206G>A	ENSP00000362810:p.Gly274Glu					HCRTR1_ENST00000373706.5_Missense_Mutation_p.G274E|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G274E	p.G274E	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	7	1206	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	274					A8K3A6|Q9HBV6	Missense_Mutation	SNP	ENST00000373706.5	37	c.821G>A	CCDS344.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.686426	0.00101	.	.	ENSG00000121764	ENST00000403528;ENST00000373706;ENST00000373705	T;T;T	0.60797	0.16;0.16;0.37	4.23	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	1.568710	0.03644	N	0.240022	T	0.25901	0.0631	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22556	-1.0213	10	0.02654	T	1	.	0.3263	0.00311	0.2862:0.3045:0.1452:0.2641	.	274;274	A6NMV7;O43613	.;OX1R_HUMAN	E	274	ENSP00000384387:G274E;ENSP00000362810:G274E;ENSP00000362809:G274E	ENSP00000362809:G274E	G	+	2	0	HCRTR1	31861793	0.034000	0.19679	0.002000	0.10522	0.060000	0.15804	0.341000	0.19909	-0.138000	0.11434	-0.823000	0.03104	GGA		0.647	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		27	18	0	0	0	1	0	27	18				
LTF	4057	broad.mit.edu	37	3	46486873	46486873	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46486873G>A	ENST00000231751.4	-	12	1707	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	LTF_ENST00000417439.1_Missense_Mutation_p.S469F|LTF_ENST00000426532.2_Missense_Mutation_p.S427F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	471	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GCCTTTCACAGAGTTCCAGGT	0.527																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1411-1413)tCt>tTt		lactotransferrin	Pefloxacin(DB00487)						63.0	61.0	62.0					3																	46486873		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46486873G>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1412C>T	3.37:g.46486873G>A	ENSP00000231751:p.Ser471Phe					LTF_ENST00000417439.1_Missense_Mutation_p.S469F|LTF_ENST00000426532.2_Missense_Mutation_p.S427F	p.S471F	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	12	1707	-			471			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1412C>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417257	0.62622	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.3	3.34	0.38264	.	0.622124	0.16326	N	0.219356	T	0.29458	0.0734	M	0.86178	2.8	0.31875	N	0.619265	D;D;D	0.76494	0.978;0.999;0.978	D;D;D	0.69307	0.963;0.953;0.963	T	0.38972	-0.9636	10	0.87932	D	0	-2.7865	10.9584	0.47370	0.0:0.0:0.5379:0.4621	.	469;458;471	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	F	471;427;469;458	ENSP00000231751:S471F;ENSP00000405719:S427F;ENSP00000405546:S469F;ENSP00000397427:S458F	ENSP00000231751:S471F	S	-	2	0	LTF	46461877	0.001000	0.12720	0.773000	0.31616	0.907000	0.53573	0.894000	0.28350	1.338000	0.45544	0.655000	0.94253	TCT		0.527	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		23	49	0	0	0	1	0	23	49				
XRRA1	143570	broad.mit.edu	37	11	74559421	74559421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74559421A>C	ENST00000340360.6	-	15	1774	c.1443T>G	c.(1441-1443)gaT>gaG	p.D481E	XRRA1_ENST00000527087.1_Missense_Mutation_p.D394E|XRRA1_ENST00000321448.8_Missense_Mutation_p.D206E|RN7SL239P_ENST00000490061.2_RNA	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GCTCTAGCATATCCTTTGAGG	0.547																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1441-1443)gaT>gaG		X-ray radiation resistance associated 1							55.0	61.0	59.0					11																	74559421		2096	4192	6288	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559421A>C	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1443T>G	11.37:g.74559421A>C	ENSP00000339918:p.Asp481Glu					XRRA1_ENST00000321448.8_Missense_Mutation_p.D206E|XRRA1_ENST00000527087.1_Missense_Mutation_p.D394E	p.D481E	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			15	1774	-			481						Missense_Mutation	SNP	ENST00000340360.6	37	c.1443T>G	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	A	4.100	0.016649	0.07959	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.46451	0.9;1.6;0.87	3.82	-0.927	0.10451	.	1.365790	0.04417	N	0.367015	T	0.12518	0.0304	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B;B;B	0.23990	0.001;0.095;0.004;0.05;0.002;0.004;0.002	B;B;B;B;B;B;B	0.21360	0.0;0.034;0.011;0.012;0.003;0.009;0.002	T	0.26710	-1.0095	10	0.02654	T	1	0.1116	5.226	0.15396	0.3146:0.2615:0.4239:0.0	.	481;83;37;394;425;91;467	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	E	481;206;467;425;394	ENSP00000339918:D481E;ENSP00000319303:D206E;ENSP00000435838:D394E	ENSP00000319303:D206E	D	-	3	2	XRRA1	74237069	0.001000	0.12720	0.000000	0.03702	0.441000	0.31987	0.100000	0.15231	-0.162000	0.10964	0.482000	0.46254	GAT		0.547	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		10	11	0	0	0	1	0	10	11				
DRC1	92749	broad.mit.edu	37	2	26677573	26677573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26677573G>A	ENST00000288710.2	+	15	2052	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	660					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAAGGACTCGGAGTACTGGCA	0.562																																						ENST00000288710.2																			0											c.(1978-1980)Gag>Aag		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							116.0	100.0	105.0					2																	26677573		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26677573G>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1978G>A	2.37:g.26677573G>A	ENSP00000288710:p.Glu660Lys						p.E660K	NM_145038.2	NP_659475.2					15	2052	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1978G>A	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939477	0.34189	.	.	ENSG00000157856	ENST00000288710	T	0.49720	0.77	5.15	3.3	0.37823	.	0.437579	0.25654	N	0.029186	T	0.42585	0.1209	M	0.64567	1.98	0.19945	N	0.999944	B	0.24368	0.102	B	0.25405	0.06	T	0.43988	-0.9357	10	0.72032	D	0.01	-8.3343	6.8632	0.24077	0.1591:0.1455:0.6954:0.0	.	660	Q96MC2	CC164_HUMAN	K	660	ENSP00000288710:E660K	ENSP00000288710:E660K	E	+	1	0	CCDC164	26531077	0.948000	0.32251	0.103000	0.21229	0.359000	0.29487	1.953000	0.40352	0.638000	0.30545	0.655000	0.94253	GAG		0.562	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		40	59	0	0	0	1	0	40	59				
NLRC4	58484	broad.mit.edu	37	2	32475021	32475021	+	Missense_Mutation	SNP	C	C	T	rs267599354		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32475021C>T	ENST00000404025.2	-	5	2400	c.1912G>A	c.(1912-1914)Gag>Aag	p.E638K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E638K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E638K|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	638					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGGGGCCTCTTCCATGTGG	0.498																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(1912-1914)Gag>Aag		NLR family, CARD domain containing 4							148.0	161.0	156.0					2																	32475021		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475021C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1912G>A	2.37:g.32475021C>T	ENSP00000385090:p.Glu638Lys					NLRC4_ENST00000360906.5_Missense_Mutation_p.E638K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E638K	p.E638K			Q9NPP4	NLRC4_HUMAN			5	2400	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		638					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.1912G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.866502	0.00547	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.53206	0.63;0.63;0.63	3.67	0.827	0.18835	.	1.507110	0.04361	N	0.357520	T	0.29223	0.0727	N	0.19112	0.55	0.23645	N	0.997214	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	9	0.06236	T	0.91	.	7.2975	0.26401	0.0:0.6731:0.0:0.3269	.	638	Q9NPP4	NLRC4_HUMAN	K	638	ENSP00000354159:E638K;ENSP00000385428:E638K;ENSP00000385090:E638K	ENSP00000354159:E638K	E	-	1	0	NLRC4	32328525	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.284000	0.18864	0.363000	0.24346	-0.300000	0.09419	GAG		0.498	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		77	115	0	0	0	1	0	77	115				
COL21A1	81578	broad.mit.edu	37	6	56035551	56035551	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56035551G>C	ENST00000244728.5	-	5	1319	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q308E|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q308E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	308	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACTGCTATTTGTGGCCTTCCA	0.348																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(922-924)Caa>Gaa		collagen, type XXI, alpha 1							86.0	77.0	80.0					6																	56035551		1850	4089	5939	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56035551G>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.922C>G	6.37:g.56035551G>C	ENSP00000244728:p.Gln308Glu					COL21A1_ENST00000535941.1_Missense_Mutation_p.Q308E|COL21A1_ENST00000370819.1_Missense_Mutation_p.Q308E	p.Q308E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1319	-	Lung NSC(77;0.0483)		308			TSP N-terminal.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.922C>G	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.752479	0.49362	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.02421	4.3;4.3;4.3	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.51477	D	0.000086	T	0.09905	0.0243	M	0.79614	2.46	0.80722	D	1	D;D	0.61697	0.99;0.969	D;D	0.72982	0.979;0.93	T	0.05468	-1.0883	10	0.46703	T	0.11	.	17.5385	0.87840	0.0:0.0:1.0:0.0	.	308;308	Q96P44-3;Q96P44	.;COLA1_HUMAN	E	308	ENSP00000244728:Q308E;ENSP00000359855:Q308E;ENSP00000444384:Q308E	ENSP00000244728:Q308E	Q	-	1	0	COL21A1	56143510	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.145000	0.94634	2.126000	0.65437	0.591000	0.81541	CAA		0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			3	11	0	0	0	1	0	3	11				
OR2T4	127074	broad.mit.edu	37	1	248525838	248525838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248525838C>T	ENST00000366475.1	+	1	956	c.956C>T	c.(955-957)cCt>cTt	p.P319L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGGTGAACCCTTTAATCTAT	0.458																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(955-957)cCt>cTt		olfactory receptor, family 2, subfamily T, member 4							137.0	137.0	137.0					1																	248525838		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525838C>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.956C>T	1.37:g.248525838C>T	ENSP00000355431:p.Pro319Leu						p.P319L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		319					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.956C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205785	0.39003	.	.	ENSG00000196944	ENST00000366475	T	0.63417	-0.04	2.87	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000279	T	0.78805	0.4341	M	0.83012	2.62	0.51767	D	0.999935	D	0.76494	0.999	D	0.76071	0.987	T	0.82999	-0.0178	10	0.87932	D	0	.	13.462	0.61233	0.0:1.0:0.0:0.0	.	319	Q8NH00	OR2T4_HUMAN	L	319	ENSP00000355431:P319L	ENSP00000355431:P319L	P	+	2	0	OR2T4	246592461	0.921000	0.31238	0.871000	0.34182	0.061000	0.15899	4.116000	0.57871	1.424000	0.47217	0.485000	0.47835	CCT		0.458	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		92	23	0	0	0	1	0	92	23				
MAGEC3	139081	broad.mit.edu	37	X	140969434	140969434	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140969434A>G	ENST00000298296.1	+	4	761	c.761A>G	c.(760-762)aAc>aGc	p.N254S	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	254	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTTTGTAAACACATTAGAC	0.468																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(760-762)aAc>aGc		melanoma antigen family C, 3							141.0	130.0	134.0					X																	140969434		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140969434A>G	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.761A>G	X.37:g.140969434A>G	ENSP00000298296:p.Asn254Ser					MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	p.N254S	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	761	+	Acute lymphoblastic leukemia(192;6.56e-05)		254			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.761A>G	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	A	3.645	-0.072639	0.07228	.	.	ENSG00000165509	ENST00000298296	T	0.04454	3.62	2.26	-1.49	0.08718	.	.	.	.	.	T	0.03348	0.0097	L	0.33753	1.03	0.09310	N	1	B	0.24618	0.107	B	0.21708	0.036	T	0.48658	-0.9016	9	0.13853	T	0.58	.	6.0788	0.19931	0.3905:0.0:0.6095:0.0	.	254	Q8TD91	MAGC3_HUMAN	S	254	ENSP00000298296:N254S	ENSP00000298296:N254S	N	+	2	0	MAGEC3	140797100	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.018000	0.12568	-0.493000	0.06678	0.426000	0.28351	AAC		0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		77	143	0	0	0	1	0	77	143				
MROH2B	133558	broad.mit.edu	37	5	41058287	41058287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:41058287C>T	ENST00000399564.4	-	7	1084	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	212																	GGCCCGTGGGCCTTAACGATG	0.502																																						ENST00000399564.4																			0											c.(634-636)Gcc>Acc		maestro heat-like repeat family member 2B							55.0	54.0	54.0					5																	41058287		1924	4134	6058	SO:0001583	missense	133558							g.chr5:41058287C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.634G>A	5.37:g.41058287C>T	ENSP00000382476:p.Ala212Thr					MROH2B_ENST00000506092.2_5'UTR	p.A212T	NM_173489.4	NP_775760.3					7	1084	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.634G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137842	0.56936	.	.	ENSG00000171495	ENST00000399564	T	0.06528	3.29	5.03	5.03	0.67393	Armadillo-type fold (1);	0.270249	0.26411	N	0.024536	T	0.22627	0.0546	M	0.65498	2.005	0.37507	D	0.916983	D	0.89917	1.0	D	0.87578	0.998	T	0.00945	-1.1505	10	0.72032	D	0.01	.	13.747	0.62881	0.0:1.0:0.0:0.0	.	212	Q7Z745	HTRB2_HUMAN	T	212	ENSP00000382476:A212T	ENSP00000382476:A212T	A	-	1	0	HEATR7B2	41094044	1.000000	0.71417	0.996000	0.52242	0.070000	0.16714	2.264000	0.43302	2.616000	0.88540	0.650000	0.86243	GCC		0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		8	14	0	0	0	1	0	8	14				
SEMA3C	10512	broad.mit.edu	37	7	80546088	80546088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:80546088G>A	ENST00000265361.3	-	2	571	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	SEMA3C_ENST00000544525.1_Missense_Mutation_p.R22W|SEMA3C_ENST00000419255.2_Missense_Mutation_p.R4W|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000536800.1_5'UTR	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	4					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAAATTGTCCGGAATGCCATT	0.358																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(10-12)Cgg>Tgg		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							107.0	99.0	102.0					7																	80546088		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546088G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.10C>T	7.37:g.80546088G>A	ENSP00000265361:p.Arg4Trp					SEMA3C_ENST00000419255.2_Missense_Mutation_p.R4W|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R22W	p.R4W	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			2	571	-			4					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.10C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913768	0.33815	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.26957	1.71;1.71;1.7	5.39	3.43	0.39272	.	1.013190	0.07894	N	0.971613	T	0.13970	0.0338	N	0.08118	0	0.33044	D	0.531834	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20472	-1.0274	10	0.38643	T	0.18	.	6.9442	0.24510	0.1207:0.0:0.7379:0.1414	.	22;4	F5H1Z7;Q99985	.;SEM3C_HUMAN	W	4;4;22	ENSP00000265361:R4W;ENSP00000411193:R4W;ENSP00000445649:R22W	ENSP00000265361:R4W	R	-	1	2	SEMA3C	80384024	0.932000	0.31603	0.361000	0.25849	0.731000	0.41821	1.738000	0.38207	0.664000	0.31047	0.650000	0.86243	CGG		0.358	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		46	58	0	0	0	1	0	46	58				
DNAJC2	27000	broad.mit.edu	37	7	102963025	102963025	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102963025G>A	ENST00000379263.3	-	9	1116	c.866C>T	c.(865-867)gCc>gTc	p.A289V	DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289V|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	289					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ttctttcttggctttttcttc	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(865-867)gCc>gTc		DnaJ (Hsp40) homolog, subfamily C, member 2							141.0	122.0	128.0					7																	102963025		1834	4089	5923	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102963025G>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.866C>T	7.37:g.102963025G>A	ENSP00000368565:p.Ala289Val					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289V	p.A289V	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			9	1116	-			289					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.866C>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465983	0.84425	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.39229	1.09;1.09	5.81	5.81	0.92471	.	0.098707	0.64402	D	0.000001	T	0.68595	0.3018	M	0.83774	2.66	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73380	0.98;0.956	T	0.67027	-0.5774	10	0.38643	T	0.18	-0.989	19.6936	0.96012	0.0:0.0:1.0:0.0	.	289;289	Q99543-2;Q99543	.;DNJC2_HUMAN	V	289	ENSP00000249270:A289V;ENSP00000368565:A289V	ENSP00000249270:A289V	A	-	2	0	DNAJC2	102750261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.601000	0.90864	2.751000	0.94390	0.650000	0.86243	GCC		0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			9	14	0	0	0	1	0	9	14				
FNBP1	23048	broad.mit.edu	37	9	132689581	132689581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132689581C>T	ENST00000446176.2	-	8	868	c.682G>A	c.(682-684)Gga>Aga	p.G228R	FNBP1_ENST00000420781.1_Missense_Mutation_p.G228R|FNBP1_ENST00000478129.1_5'Flank|FNBP1_ENST00000355681.3_Missense_Mutation_p.G228R	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	228	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		ATGGACTCTCCCATTCTCACA	0.383			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(682-684)Gga>Aga		formin binding protein 1							295.0	293.0	294.0					9																	132689581		1895	4132	6027	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132689581C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.682G>A	9.37:g.132689581C>T	ENSP00000413625:p.Gly228Arg					FNBP1_ENST00000446176.2_Missense_Mutation_p.G228R|FNBP1_ENST00000355681.3_Missense_Mutation_p.G228R	p.G228R			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	8	900	-		Ovarian(14;0.000536)	228			Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.682G>A	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.02|10.02	1.235623|1.235623	0.22626|0.22626	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	T;T;T|.	0.39056|.	1.1;1.1;1.1|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.049001|.	0.85682|.	D|.	0.000000|.	T|.	0.56499|.	0.1989|.	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.30634|.	0.007;0.288;0.007;0.06;0.288;0.012;0.016|.	B;B;B;B;B;B;B|.	0.32149|.	0.007;0.141;0.007;0.034;0.141;0.007;0.01|.	T|.	0.47586|.	-0.9106|.	10|.	0.08599|.	T|.	0.76|.	-27.9221|-27.9221	19.5634|19.5634	0.95382|0.95382	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	228;228;228;228;189;228;228|.	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;FNBP1_HUMAN|.	R|X	228|189	ENSP00000413625:G228R;ENSP00000407548:G228R;ENSP00000347907:G228R|.	ENSP00000347907:G228R|.	G|W	-|-	1|3	0|0	FNBP1|FNBP1	131729402|131729402	1.000000|1.000000	0.71417|0.71417	0.280000|0.280000	0.24747|0.24747	0.054000|0.054000	0.15201|0.15201	5.558000|5.558000	0.67319|0.67319	2.868000|2.868000	0.98415|0.98415	0.557000|0.557000	0.71058|0.71058	GGA|TGG		0.383	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			98	48	0	0	0	1	0	98	48				
AMY2B	280	broad.mit.edu	37	1	104120437	104120437	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:104120437G>A	ENST00000361355.4	+	11	1932	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	439					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAGGAAACAGAGGATTCATT	0.358																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1315-1317)aGa>aAa		amylase, alpha 2B (pancreatic)							112.0	148.0	134.0					1																	104120437		1416	2433	3849	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120437G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1316G>A	1.37:g.104120437G>A	ENSP00000354610:p.Arg439Lys					AMY2B_ENST00000491397.1_3'UTR	p.R439K	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	11	1932	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	439					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1316G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.498402	0.01001	.	.	ENSG00000240038	ENST00000361355	T	0.74632	-0.86	4.57	-9.14	0.00701	Alpha-amylase, C-terminal all beta (2);Glycosyl hydrolase, family 13, all-beta (1);	0.393988	0.28618	N	0.014720	T	0.20981	0.0505	N	0.04275	-0.24	0.36339	D	0.859341	B	0.02656	0.0	B	0.08055	0.003	T	0.32481	-0.9905	10	0.02654	T	1	.	18.5348	0.91006	0.3929:0.0:0.6071:0.0	.	439	P19961	AMY2B_HUMAN	K	439	ENSP00000354610:R439K	ENSP00000354610:R439K	R	+	2	0	AMY2B	103921960	0.056000	0.20664	0.450000	0.26969	0.210000	0.24377	-0.623000	0.05546	-2.566000	0.00470	-1.595000	0.00837	AGA		0.358	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		82	99	0	0	0	1	0	82	99				
C2	717	broad.mit.edu	37	6	31910824	31910824	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910824C>T	ENST00000299367.5	+	10	1584	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A	CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Silent_p.A190A|C2_ENST00000452323.2_Silent_p.A222A|C2_ENST00000442278.2_Silent_p.A304A|CFB_ENST00000556679.1_Silent_p.A283A|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Silent_p.A283A	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	436	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGAGGCATGCCTTCATTCTGC	0.557																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(847-849)gcC>gcT		complement factor B							325.0	336.0	332.0					6																	31910824		1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31910824C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1308C>T	6.37:g.31910824C>T						CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.A436A|CFB_ENST00000556679.1_Silent_p.A283A|C2_ENST00000469372.1_Silent_p.A190A|C2_ENST00000442278.2_Silent_p.A304A|C2_ENST00000452323.2_Silent_p.A222A	p.A283A			P00751	CFAB_HUMAN			7	904	+			452			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	c.849C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469001	0.26335	.	.	ENSG00000166278	ENST00000383177	.	.	.	5.71	2.79	0.32731	.	.	.	.	.	T	0.30541	0.0768	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13899	-1.0492	4	.	.	.	-27.7973	4.0651	0.09856	0.3059:0.4831:0.1326:0.0784	.	.	.	.	L	210	.	.	P	+	2	0	C2	32018803	0.980000	0.34600	1.000000	0.80357	0.993000	0.82548	0.032000	0.13732	0.261000	0.21753	0.455000	0.32223	CCT		0.557	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			91	73	0	0	0	1	0	91	73				
COL2A1	1280	broad.mit.edu	37	12	48372458	48372458	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48372458G>A	ENST00000380518.3	-	42	2981	c.2817C>T	c.(2815-2817)ggC>ggT	p.G939G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G870G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	939	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACCAGCTCGGCCAGGGGGGC	0.637																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2815-2817)ggC>ggT		collagen, type II, alpha 1	Collagenase(DB00048)						28.0	30.0	29.0					12																	48372458		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372458G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2817C>T	12.37:g.48372458G>A						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G870G	p.G939G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			42	2981	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	939			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.2817C>T	CCDS41778.1																																																																																				0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		18	31	0	0	0	1	0	18	31				
UNC13C	440279	broad.mit.edu	37	15	54792341	54792341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54792341C>T	ENST00000260323.11	+	20	5125	c.5125C>T	c.(5125-5127)Cat>Tat	p.H1709Y	UNC13C_ENST00000545554.1_Missense_Mutation_p.H1709Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1707Y	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1709	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)		GGAATTCCTTCATGGAGCACT	0.348																																						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.(5125-5127)Cat>Tat		unc-13 homolog C (C. elegans)							112.0	104.0	107.0					15																	54792341		1847	4106	5953	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54792341C>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.5125C>T	15.37:g.54792341C>T	ENSP00000260323:p.His1709Tyr					UNC13C_ENST00000260323.11_Missense_Mutation_p.H1709Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1707Y	p.H1709Y			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	20	5125	+			1709			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5125C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827796	0.50845	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80214	-1.34;-1.35;-1.35	5.5	4.59	0.56863	Munc13 homology 1 (1);	0.156736	0.56097	D	0.000029	T	0.77377	0.4121	L	0.57130	1.785	0.43489	D	0.995727	P	0.42357	0.777	B	0.37650	0.255	T	0.79734	-0.1679	10	0.56958	D	0.05	.	15.2573	0.73596	0.1412:0.8588:0.0:0.0	.	1709	Q8NB66	UN13C_HUMAN	Y	1709;1709;1707	ENSP00000260323:H1709Y;ENSP00000438156:H1709Y;ENSP00000442569:H1707Y	ENSP00000260323:H1709Y	H	+	1	0	UNC13C	52579633	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.987000	0.56944	1.454000	0.47793	0.655000	0.94253	CAT		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		7	12	0	0	0	1	0	7	12				
FAM135B	51059	broad.mit.edu	37	8	139160925	139160925	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160925A>G	ENST00000395297.1	-	14	3456	c.3286T>C	c.(3286-3288)Tat>Cat	p.Y1096H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1096										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)			TTGGCCTGATAAAAACTGGAG	0.388										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.(3286-3288)Tat>Cat		family with sequence similarity 135, member B							30.0	31.0	31.0					8																	139160925		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160925A>G	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.3286T>C	8.37:g.139160925A>G	ENSP00000378710:p.Tyr1096His	HNSCC(54;0.14)					p.Y1096H	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3456	-	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)		1096					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3286T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102033	0.56183	.	.	ENSG00000147724	ENST00000395297	T	0.15603	2.41	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	L	0.48642	1.525	0.33309	D	0.565792	P;P	0.47841	0.901;0.675	B;B	0.40134	0.26;0.32	T	0.25984	-1.0116	10	0.34782	T	0.22	-13.6155	9.7353	0.40384	0.9236:0.0:0.0764:0.0	.	1096;1096	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	H	1096	ENSP00000378710:Y1096H	ENSP00000378710:Y1096H	Y	-	1	0	FAM135B	139230107	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.072000	0.64389	2.204000	0.70986	0.528000	0.53228	TAT		0.388	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	20	0	0	0	1	0	16	20				
CCDC87	55231	broad.mit.edu	37	11	66359329	66359329	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66359329G>A	ENST00000333861.3	-	1	1225	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	386					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGGTGACGGGTCACAACCC	0.607																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1156-1158)acC>acT		coiled-coil domain containing 87							46.0	49.0	48.0					11																	66359329		2200	4295	6495	SO:0001819	synonymous_variant	55231							g.chr11:66359329G>A	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1158C>T	11.37:g.66359329G>A							p.T386T	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	1225	-			386					Q8NE76	Silent	SNP	ENST00000333861.3	37	c.1158C>T	CCDS8145.1																																																																																				0.607	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		32	42	0	0	0	1	0	32	42				
LRP1B	53353	broad.mit.edu	37	2	140997101	140997101	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:140997101C>T	ENST00000389484.3	-	88	14296	c.13325G>A	c.(13324-13326)aGa>aAa	p.R4442K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4442					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAATGCTTCCTGGAaaata	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e88-1		low density lipoprotein receptor-related protein 1B							69.0	65.0	67.0					2																	140997101		2199	4297	6496	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140997101C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13325-1G>A	2.37:g.140997101C>T		TSP Lung(27;0.18)					p.R4442_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	88	14296	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4442					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.13324_splice	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.414580|2.414580	0.42817|0.42817	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.49720	.|0.77	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.066744	.|0.64402	.|U	.|0.000009	T|T	0.28366|0.28366	0.0701|0.0701	N|N	0.17082|0.17082	0.46|0.46	0.44302|0.44302	D|D	0.997173|0.997173	.|P	.|0.36683	.|0.565	.|B	.|0.29176	.|0.099	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.05959	.|T	.|0.93	.|.	18.9053|18.9053	0.92458|0.92458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4442	.|Q9NZR2	.|LRP1B_HUMAN	K|K	674;212|4442;4380	.|ENSP00000374135:R4442K	.|ENSP00000374135:R4442K	E|R	-|-	1|2	0|0	LRP1B|LRP1B	140713571|140713571	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.773000|0.773000	0.43773|0.43773	7.205000|7.205000	0.77881|0.77881	2.456000|2.456000	0.83038|0.83038	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	7	13	0	0	0	1	0	7	13				
PCDHA4	56144	broad.mit.edu	37	5	140186794	140186794	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140186794G>C	ENST00000530339.1	+	1	22	c.22G>C	c.(22-24)Ggc>Cgc	p.G8R	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8R|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8R	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	8					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGAAGCGGCCAGGAATC	0.502																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(22-24)Ggc>Cgc									79.0	90.0	86.0					5																	140186794		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140186794G>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.22G>C	5.37:g.140186794G>C	ENSP00000435300:p.Gly8Arg					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8R|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8R|PCDHA1_ENST00000394633.3_Intron	p.G8R	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	22	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.22G>C	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.136596	0.37728	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51574	0.74;0.72;0.7	4.55	1.63	0.23807	.	0.358505	0.20187	U	0.097390	T	0.21022	0.0506	N	0.11154	0.105	0.09310	N	1	B;B;B	0.15473	0.013;0.007;0.013	B;B;B	0.21708	0.036;0.016;0.016	T	0.12889	-1.0530	10	0.17832	T	0.49	.	1.6432	0.02756	0.1868:0.1665:0.4751:0.1716	.	8;8;8	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	R	8	ENSP00000423470:G8R;ENSP00000349344:G8R;ENSP00000435300:G8R	ENSP00000349344:G8R	G	+	1	0	PCDHA4	140166978	0.000000	0.05858	0.005000	0.12908	0.543000	0.35085	-0.695000	0.05109	0.097000	0.17492	0.467000	0.42956	GGC		0.502	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		43	72	0	0	0	1	0	43	72				
DPYSL3	1809	broad.mit.edu	37	5	146798021	146798021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:146798021G>A	ENST00000398514.3	-	3	673	c.302C>T	c.(301-303)aCc>aTc	p.T101I	DPYSL3_ENST00000343218.5_Missense_Mutation_p.T215I|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	101					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCATGGTGGTGCCACCTGC	0.433																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(643-645)aCc>aTc		dihydropyrimidinase-like 3							215.0	212.0	213.0					5																	146798021		2015	4194	6209	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146798021G>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.302C>T	5.37:g.146798021G>A	ENSP00000381526:p.Thr101Ile					DPYSL3_ENST00000398514.3_Missense_Mutation_p.T101I|DPYSL3_ENST00000534907.1_Intron	p.T215I	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	841	-			101					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.644C>T	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314408	0.95655	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.90563	-2.69;-2.69	6.17	6.17	0.99709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96682	0.9504	10	0.87932	D	0	-7.3871	20.8794	0.99867	0.0:0.0:1.0:0.0	.	215;101	B3SXQ8;Q14195	.;DPYL3_HUMAN	I	101;215	ENSP00000381526:T101I;ENSP00000343690:T215I	ENSP00000343690:T215I	T	-	2	0	DPYSL3	146778214	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.814000	0.99346	2.941000	0.99782	0.655000	0.94253	ACC		0.433	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		76	103	0	0	0	1	0	76	103				
PLVAP	83483	broad.mit.edu	37	19	17476587	17476587	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17476587G>T	ENST00000252590.4	-	3	748	c.687C>A	c.(685-687)gaC>gaA	p.D229E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	229					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTTGTCCTTGTCCAGGGGCA	0.577																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(685-687)gaC>gaA		plasmalemma vesicle associated protein							92.0	78.0	83.0					19																	17476587		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476587G>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.687C>A	19.37:g.17476587G>T	ENSP00000252590:p.Asp229Glu						p.D229E	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			3	748	-			229					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.687C>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573398	0.45902	.	.	ENSG00000130300	ENST00000252590	.	.	.	4.64	2.53	0.30540	.	0.494719	0.23167	N	0.051177	T	0.39172	0.1068	L	0.32530	0.975	0.27847	N	0.940907	D	0.71674	0.998	D	0.69654	0.965	T	0.18147	-1.0346	9	0.18276	T	0.48	-72.0023	6.7468	0.23466	0.2112:0.0:0.7888:0.0	.	229	Q9BX97	PLVAP_HUMAN	E	229	.	ENSP00000252590:D229E	D	-	3	2	PLVAP	17337587	0.997000	0.39634	0.896000	0.35187	0.324000	0.28378	0.341000	0.19909	0.593000	0.29745	0.455000	0.32223	GAC		0.577	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		41	55	1	0	1.04594e-18	1	1.06637e-18	41	55				
MYO1C	4641	broad.mit.edu	37	17	1387540	1387540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387540G>A	ENST00000575158.1	-	2	204	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO1C_ENST00000361007.2_Missense_Mutation_p.R10W|MYO1C_ENST00000359786.5_Missense_Mutation_p.R45W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R26W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R21W			Q12965	MYO1E_HUMAN	myosin IC	0					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCCCCACCCGGTCACGGGCG	0.632																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(133-135)Cgg>Tgg		myosin IC							48.0	45.0	46.0					17																	1387540		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1387540G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.28C>T	17.37:g.1387540G>A	ENSP00000459174:p.Arg10Trp					MYO1C_ENST00000438665.2_Missense_Mutation_p.R26W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R10W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R10W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R21W	p.R45W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	457	-			45			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.133C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321948	0.81580	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	4.54	4.54	0.55810	Myosin head, motor domain (1);	0.059558	0.64402	D	0.000003	D	0.85492	0.5709	M	0.90369	3.11	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.995;0.998	D	0.87893	0.2685	10	0.87932	D	0	.	11.6802	0.51453	0.0:0.0:0.8232:0.1768	.	21;45;26	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	W	45;26;26;10;21;10	ENSP00000352834:R45W;ENSP00000412197:R26W;ENSP00000354283:R10W;ENSP00000437685:R21W	ENSP00000352834:R45W	R	-	1	2	MYO1C	1334290	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.005000	0.70716	2.353000	0.79882	0.561000	0.74099	CGG		0.632	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			14	26	0	0	0	1	0	14	26				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	69	0	0	0	1	0	4	69				
F5	2153	broad.mit.edu	37	1	169509869	169509869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169509869G>A	ENST00000367797.3	-	13	4660	c.4459C>T	c.(4459-4461)Ctt>Ttt	p.L1487F	F5_ENST00000367796.3_Missense_Mutation_p.L1492F	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1487	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ATCTGACCAAGGTCTGGATAA	0.398																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4474-4476)Ctt>Ttt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						80.0	81.0	80.0					1																	169509869		2203	4299	6502	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509869G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4459C>T	1.37:g.169509869G>A	ENSP00000356771:p.Leu1487Phe					F5_ENST00000367797.3_Missense_Mutation_p.L1487F	p.L1492F			P12259	FA5_HUMAN			13	4675	-	all_hematologic(923;0.208)		1487			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4474C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	g	12.46	1.944776	0.34283	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98437	-4.93;-4.93	5.93	1.95	0.26073	.	1.134020	0.06354	N	0.710443	D	0.91965	0.7455	L	0.50333	1.59	0.25401	N	0.988442	B	0.29988	0.264	B	0.23150	0.044	D	0.85137	0.0978	9	0.46703	T	0.11	-2.3803	2.8128	0.05446	0.1568:0.1438:0.5506:0.1489	.	1487	P12259	FA5_HUMAN	F	1487;1492	ENSP00000356771:L1487F;ENSP00000356770:L1492F	ENSP00000356770:L1492F	L	-	1	0	F5	167776493	0.390000	0.25213	0.040000	0.18447	0.850000	0.48378	0.303000	0.19210	0.113000	0.18004	0.591000	0.81541	CTT		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		17	32	0	0	0	1	0	17	32				
LRRTM4	80059	broad.mit.edu	37	2	77746081	77746081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746081G>A	ENST00000409093.1	-	3	1250	c.914C>T	c.(913-915)tCc>tTc	p.S305F	LRRTM4_ENST00000409088.3_Missense_Mutation_p.S305F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S305F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S306F			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	305					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAATGTGATGGATATTAATGA	0.353																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(913-915)tCc>tTc		leucine rich repeat transmembrane neuronal 4							45.0	40.0	42.0					2																	77746081		1857	4108	5965	SO:0001583	missense	80059					integral to membrane		g.chr2:77746081G>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.914C>T	2.37:g.77746081G>A	ENSP00000386357:p.Ser305Phe					LRRTM4_ENST00000409282.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S305F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S305F	p.S305F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1328	-			305					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.914C>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992139	0.54041	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	5.84	5.84	0.93424	.	0.178707	0.50627	D	0.000109	T	0.13157	0.0319	L	0.31926	0.97	0.58432	D	0.999995	D;P;D	0.55605	0.972;0.906;0.972	P;P;P	0.62435	0.839;0.751;0.902	T	0.01460	-1.1349	10	0.44086	T	0.13	.	18.6944	0.91594	0.0:0.0:1.0:0.0	.	306;305;305	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	F	306;305;305;305;306	ENSP00000387228:S306F;ENSP00000387297:S305F;ENSP00000386357:S305F;ENSP00000386236:S305F;ENSP00000386286:S306F	ENSP00000386236:S305F	S	-	2	0	LRRTM4	77599589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.817000	0.75252	2.751000	0.94390	0.655000	0.94253	TCC		0.353	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		11	16	0	0	0	1	0	11	16				
MAGEC1	9947	broad.mit.edu	37	X	140996585	140996585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:140996585C>T	ENST00000285879.4	+	4	3681	c.3395C>T	c.(3394-3396)tCc>tTc	p.S1132F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S199F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1132										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)					AGTGCAAGCTCCAGTGTCATG	0.507										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.(3394-3396)tCc>tTc		melanoma antigen family C, 1							86.0	73.0	78.0					X																	140996585		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996585C>T	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.3395C>T	X.37:g.140996585C>T	ENSP00000285879:p.Ser1132Phe	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Missense_Mutation_p.S199F	p.S1132F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3681	+	Acute lymphoblastic leukemia(192;6.56e-05)		1132					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.3395C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	2.583	-0.296939	0.05532	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05717	4.2;3.4	0.758	0.758	0.18432	.	.	.	.	.	T	0.11580	0.0282	L	0.41906	1.305	0.09310	N	1	D	0.55605	0.972	P	0.58013	0.831	T	0.19712	-1.0297	8	0.62326	D	0.03	.	.	.	.	.	1132	O60732	MAGC1_HUMAN	F	1132;199	ENSP00000285879:S1132F;ENSP00000385500:S199F	ENSP00000285879:S1132F	S	+	2	0	MAGEC1	140824251	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	-0.812000	0.04496	0.645000	0.30675	0.279000	0.19357	TCC		0.507	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		37	51	0	0	0	1	0	37	51				
PGRMC2	10424	broad.mit.edu	37	4	129208548	129208548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:129208548C>T	ENST00000296425.5	-	1	418	c.398G>A	c.(397-399)gGc>gAc	p.G133D	PGRMC2_ENST00000503872.1_5'Flank|PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000503588.1_5'Flank|PGRMC2_ENST00000520121.1_Missense_Mutation_p.G157D			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	133	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										GAACTTGCTGCCTTTGGTCAC	0.642																																					Colon(78;371 1268 8296 41305 53030)	ENST00000520121.1																			0											c.(469-471)gGc>gAc		progesterone receptor membrane component 2							37.0	35.0	36.0					4																	129208548		2151	4204	6355	SO:0001583	missense	10424							g.chr4:129208548C>T		CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.398G>A	4.37:g.129208548C>T	ENSP00000296425:p.Gly133Asp					PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.G133D	p.G157D	NM_006320.4	NP_006311.2					1	1436	-								Q569H1	Missense_Mutation	SNP	ENST00000296425.5	37	c.470G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.586527	0.96578	.	.	ENSG00000164040	ENST00000296425;ENST00000520121	T;T	0.77489	-1.1;-1.1	4.06	4.06	0.47325	Cytochrome b5 (3);	0.099088	0.64402	D	0.000001	D	0.90082	0.6902	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.92712	0.6184	10	0.87932	D	0	-3.0442	16.4026	0.83647	0.0:1.0:0.0:0.0	.	133	O15173	PGRC2_HUMAN	D	133;157	ENSP00000296425:G133D;ENSP00000429301:G157D	ENSP00000296425:G133D	G	-	2	0	PGRMC2	129427998	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.845000	0.55880	2.255000	0.74692	0.561000	0.74099	GGC		0.642	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470697.1			12	17	0	0	0	1	0	12	17				
DOCK8	81704	broad.mit.edu	37	9	406992	406992	+	Silent	SNP	C	C	T	rs373733736		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406992C>T	ENST00000453981.1	+	28	3565	c.3453C>T	c.(3451-3453)tcC>tcT	p.S1151S	DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000382329.1_Silent_p.S618S|DOCK8_ENST00000432829.2_Silent_p.S1083S			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATCTGACTTCCGAGTACCGCC	0.527													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0					ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tcC>tcT		dedicator of cytokinesis 8		C	,,	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	100.0		3153,3249,3453	-11.2	0.0	9		100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	1051/2000,1083/2032,1151/2100	406992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406992C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3453C>T	9.37:g.406992C>T						DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000382329.1_Silent_p.S618S	p.S1083S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3565	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.3249C>T	CCDS6440.2																																																																																				0.527	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		105	26	0	0	0	1	0	105	26				
RGS7	6000	broad.mit.edu	37	1	240964793	240964793	+	Missense_Mutation	SNP	C	C	T	rs141557672	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240964793C>T	ENST00000407727.1	-	16	1374	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	RGS7_ENST00000446183.2_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366565.1_Missense_Mutation_p.D459N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	459					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCTGCGATCCATTGAGTTT	0.333																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1375-1377)Gat>Aat		regulator of G-protein signaling 7		C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	77.0	71.0	73.0		1375	5.8	1.0	1	dbSNP_134	73	3,8597	3.0+/-9.4	0,3,4297	yes	missense	RGS7	NM_002924.4	23	0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384	benign	459/488	240964793	5,13001	2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240964793C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1375G>A	1.37:g.240964793C>T	ENSP00000384428:p.Asp459Asn					RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.D459N|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000331110.7_Intron	p.D459N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		17	1756	-		all_cancers(173;0.0131)	459					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.1375G>A		.	.	.	.	.	.	.	.	.	.	C	16.08	3.022021	0.54576	4.54E-4	3.49E-4	ENSG00000182901	ENST00000366565;ENST00000440928;ENST00000407727	T;T;T	0.33865	1.57;1.39;1.56	5.77	5.77	0.91146	.	0.146062	0.43579	D	0.000557	T	0.31071	0.0785	N	0.19112	0.55	0.80722	D	1	B;B	0.22541	0.071;0.042	B;B	0.35727	0.209;0.071	T	0.08493	-1.0719	10	0.16896	T	0.51	.	17.5174	0.87778	0.0:1.0:0.0:0.0	.	459;459	P49802-5;P49802	.;RGS7_HUMAN	N	459;290;459	ENSP00000355523:D459N;ENSP00000404399:D290N;ENSP00000384428:D459N	ENSP00000355523:D459N	D	-	1	0	RGS7	239031416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.662000	0.74426	2.885000	0.99019	0.655000	0.94253	GAT		0.333	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		17	4	0	0	0	1	0	17	4				
MAPT	4137	broad.mit.edu	37	17	44051778	44051778	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051778G>A	ENST00000571987.1	+	3	248	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000344290.5_Missense_Mutation_p.G83E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_5'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	83					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GTGGATGAGGGAGCTCCCGGC	0.622																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(247-249)gGa>gAa		microtubule-associated protein tau							32.0	29.0	30.0					17																	44051778		2202	4300	6502	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44051778G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.248G>A	17.37:g.44051778G>A	ENSP00000458742:p.Gly83Glu					MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000571987.1_Missense_Mutation_p.G83E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000340799.5_Intron	p.G83E	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			4	570	+		Melanoma(429;0.216)	83					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.248G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792659	0.31685	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.17054	2.87;2.88;2.3;2.56;2.87	5.94	2.25	0.28309	.	0.492144	0.17250	N	0.181205	T	0.11879	0.0289	L	0.40543	1.245	0.09310	N	0.999999	B;B;B	0.30686	0.043;0.29;0.026	B;B;B	0.32864	0.1;0.154;0.031	T	0.29243	-1.0018	10	0.07482	T	0.82	-0.4136	8.5638	0.33527	0.0895:0.3175:0.593:0.0	.	83;83;83	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	E	83	ENSP00000340820:G83E;ENSP00000262410:G83E;ENSP00000303214:G83E;ENSP00000443028:G83E;ENSP00000410838:G83E	ENSP00000262410:G83E	G	+	2	0	MAPT	41407614	1.000000	0.71417	0.865000	0.33974	0.694000	0.40290	1.667000	0.37471	0.783000	0.33636	0.561000	0.74099	GGA		0.622	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		10	9	0	0	0	1	0	10	9				
XCR1	2829	broad.mit.edu	37	3	46062478	46062478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46062478G>A	ENST00000309285.3	-	2	1318	c.962C>T	c.(961-963)tCc>tTc	p.S321F	XCR1_ENST00000542109.1_Missense_Mutation_p.S321F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	321					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGCACCAGGGGAGTGGGGGAT	0.647																																						ENST00000309285.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(961-963)tCc>tTc		chemokine (C motif) receptor 1							25.0	26.0	26.0					3																	46062478		2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46062478G>A		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.962C>T	3.37:g.46062478G>A	ENSP00000310405:p.Ser321Phe					XCR1_ENST00000542109.1_Missense_Mutation_p.S321F	p.S321F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	1318	-			321						Missense_Mutation	SNP	ENST00000309285.3	37	c.962C>T	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461026	0.43736	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.68479	-0.33;-0.33	5.52	4.64	0.57946	.	0.423370	0.20307	N	0.094918	T	0.43389	0.1245	N	0.08118	0	0.09310	N	1	P	0.46277	0.875	B	0.39876	0.312	T	0.31943	-0.9925	10	0.33940	T	0.23	.	10.1781	0.42950	0.0718:0.0:0.7912:0.137	.	321	P46094	XCR1_HUMAN	F	321	ENSP00000310405:S321F;ENSP00000438119:S321F	ENSP00000310405:S321F	S	-	2	0	XCR1	46037482	0.004000	0.15560	0.042000	0.18584	0.053000	0.15095	1.001000	0.29783	2.590000	0.87494	0.655000	0.94253	TCC		0.647	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2			6	13	0	0	0	1	0	6	13				
MYO1C	4641	broad.mit.edu	37	17	1387541	1387541	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1387541G>A	ENST00000575158.1	-	2	203	c.27C>T	c.(25-27)gaC>gaT	p.D9D	MYO1C_ENST00000361007.2_Silent_p.D9D|MYO1C_ENST00000359786.5_Silent_p.D44D|MYO1C_ENST00000438665.2_Silent_p.D25D|MYO1C_ENST00000545534.2_Silent_p.D20D			Q12965	MYO1E_HUMAN	myosin IC	0					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCCACCCGGTCACGGGCGG	0.637																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(130-132)gaC>gaT		myosin IC							48.0	45.0	46.0					17																	1387541		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1387541G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.27C>T	17.37:g.1387541G>A						MYO1C_ENST00000438665.2_Silent_p.D25D|MYO1C_ENST00000575158.1_Silent_p.D9D|MYO1C_ENST00000361007.2_Silent_p.D9D|MYO1C_ENST00000545534.2_Silent_p.D20D	p.D44D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	456	-			44			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.132C>T	CCDS11003.1																																																																																				0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			14	26	0	0	0	1	0	14	26				
NLRP11	204801	broad.mit.edu	37	19	56320538	56320538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56320538C>T	ENST00000589093.1	-	3	1531	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	NLRP11_ENST00000443188.1_Missense_Mutation_p.E480K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E480K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E381K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E480K			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	480							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTCTCTTCTCTTTATACTCT	0.393																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1438-1440)Gag>Aag		NLR family, pyrin domain containing 11							95.0	92.0	93.0					19																	56320538		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320538C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1438G>A	19.37:g.56320538C>T	ENSP00000466285:p.Glu480Lys					NLRP11_ENST00000360133.3_Missense_Mutation_p.E480K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E381K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E480K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E480K	p.E480K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2148	-		Colorectal(82;0.0002)	480					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1438G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	2.969	-0.212801	0.06140	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74737	-0.87;-0.82	2.2	1.08	0.20341	.	.	.	.	.	T	0.59824	0.2222	L	0.40543	1.245	0.09310	N	1	B;B	0.31790	0.23;0.34	B;B	0.30251	0.082;0.113	T	0.43393	-0.9394	9	0.23302	T	0.38	.	6.4377	0.21833	0.0:0.6906:0.3093:0.0	.	480;480	P59045;P59045-2	NAL11_HUMAN;.	K	480	ENSP00000409898:E480K;ENSP00000353251:E480K	ENSP00000353251:E480K	E	-	1	0	NLRP11	61012350	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.411000	0.21115	0.446000	0.26666	0.655000	0.94253	GAG		0.393	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		30	61	0	0	0	1	0	30	61				
A1BG	1	broad.mit.edu	37	19	58864480	58864480	+	Missense_Mutation	SNP	G	G	A	rs144181716		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58864480G>A	ENST00000263100.3	-	3	215	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	52	Ig-like V-type 1.		H -> R (in dbSNP:rs893184). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:3458201, ECO:0000269|Ref.2}.			blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GTCTCCAGGTGGGCCTGGCAC	0.602																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(154-156)Cac>Tac		alpha-1-B glycoprotein		G	TYR/HIS	0,4406		0,0,2203	96.0	92.0	94.0		154	-2.9	0.0	19	dbSNP_134	94	1,8599		0,1,4299	no	missense	A1BG	NM_130786.3	83	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	52/496	58864480	1,13005	2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58864480G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.154C>T	19.37:g.58864480G>A	ENSP00000263100:p.His52Tyr					A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	p.H52Y	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	215	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	52		H -> R (in dbSNP:rs893184).	Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.154C>T	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.426627	0.01117	0.0	1.16E-4	ENSG00000121410	ENST00000263100	T	0.12672	2.66	3.32	-2.89	0.05665	Immunoglobulin-like fold (1);	2.971620	0.01108	N	0.005508	T	0.10766	0.0263	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.20184	0.028	T	0.36065	-0.9763	10	0.56958	D	0.05	.	4.2606	0.10739	0.4129:0.1724:0.4147:0.0	.	52	P04217	A1BG_HUMAN	Y	52	ENSP00000263100:H52Y	ENSP00000263100:H52Y	H	-	1	0	A1BG	63556292	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-2.065000	0.01386	-0.464000	0.06963	0.563000	0.77884	CAC		0.602	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		42	60	0	0	0	1	0	42	60				
SLC7A1	6541	broad.mit.edu	37	13	30098369	30098369	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098369G>A	ENST00000380752.5	-	6	1112	c.726C>T	c.(724-726)ccC>ccT	p.P242P		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CACCAACACCGGGCTTCCCTT	0.547																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(724-726)ccC>ccT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						57.0	59.0	59.0					13																	30098369		2203	4300	6503	SO:0001819	synonymous_variant	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30098369G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.726C>T	13.37:g.30098369G>A							p.P242P	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	6	1112	-		Lung SC(185;0.0257)|Breast(139;0.238)	242					Q5JR50	Silent	SNP	ENST00000380752.5	37	c.726C>T	CCDS9333.1																																																																																				0.547	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		17	24	0	0	0	1	0	17	24				
ALK	238	broad.mit.edu	37	2	29543630	29543630	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29543630G>A	ENST00000389048.3	-	7	2439	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ALK_ENST00000431873.1_Intron|ALK_ENST00000498037.1_5'Flank	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	511	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGTGGTCCTGGAACCGGGCAT	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(1531-1533)ttC>ttT		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						212.0	187.0	195.0					2																	29543630		2203	4300	6503	SO:0001819	synonymous_variant	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29543630G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1533C>T	2.37:g.29543630G>A						ALK_ENST00000431873.1_Intron	p.F511F	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			7	2439	-	Acute lymphoblastic leukemia(172;0.155)		511			MAM 2.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	c.1533C>T	CCDS33172.1																																																																																				0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		68	126	0	0	0	1	0	68	126				
MCM3AP	8888	broad.mit.edu	37	21	47692669	47692669	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47692669G>A	ENST00000397708.1	-	9	2525	c.2271C>T	c.(2269-2271)caC>caT	p.H757H	MCM3AP_ENST00000291688.1_Silent_p.H757H			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	757	SAC3 homology.				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)					AGTGGGCACAGTGGATGTGAA	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.(2269-2271)caC>caT		minichromosome maintenance complex component 3 associated protein							135.0	116.0	122.0					21																	47692669		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692669G>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.2271C>T	21.37:g.47692669G>A						MCM3AP_ENST00000291688.1_Silent_p.H757H	p.H757H			O60318	MCM3A_HUMAN			9	2525	-	Breast(49;0.112)		757					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2271C>T	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		64	33	0	0	0	1	0	64	33				
GABARAPL3	23766	broad.mit.edu	37	15	90892083	90892083	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:90892083C>T	ENST00000412799.2	-	1	586	c.347G>A	c.(346-348)gGg>gAg	p.G116E				Q9BY60	GBRL3_HUMAN	GABA(A) receptors associated protein like 3, pseudogene	116		Cleavage; by ATG4B. {ECO:0000250}.			autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)											CACTCATTTCCCATAGACACT	0.527																																						ENST00000412799.2																			0											c.(346-348)gGg>gAg																																						SO:0001583	missense	23766							g.chr15:90892083C>T	AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244			4069	pseudogene	pseudogene			"""GABA(A) receptors associated protein like 3"", ""GABA(A) receptors associated protein like 3 (pseudogene)"""			11414770	Standard	NR_028287		Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.347G>A	15.37:g.90892083C>T	ENSP00000394008:p.Gly116Glu						p.G116E							1	586	-									Missense_Mutation	SNP	ENST00000412799.2	37	c.347G>A		.	.	.	.	.	.	.	.	.	.	C	10.79	1.448466	0.26074	.	.	ENSG00000238244	ENST00000412799	D	0.85088	-1.94	1.11	0.1	0.14510	.	.	.	.	.	T	0.82167	0.4978	.	.	.	0.29031	N	0.885675	.	.	.	.	.	.	T	0.75314	-0.3361	6	0.87932	D	0	.	5.614	0.17420	0.0:0.7831:0.0:0.2169	.	.	.	.	E	116	ENSP00000394008:G116E	ENSP00000394008:G116E	G	-	2	0	GABARAPL3	88693087	1.000000	0.71417	0.099000	0.21106	0.042000	0.13812	4.406000	0.59748	0.030000	0.15379	-0.444000	0.05651	GGG		0.527	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_028287		3	13	0	0	0	1	0	3	13				
MAP4K3	8491	broad.mit.edu	37	2	39552765	39552765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552765G>A	ENST00000263881.3	-	12	1136	c.812C>T	c.(811-813)cCt>cTt	p.P271L	RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TGTTACAAAAGGATGCTATAA	0.289																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(811-813)cCt>cTt		mitogen-activated protein kinase kinase kinase kinase 3							73.0	73.0	73.0					2																	39552765		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39552765G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.812C>T	2.37:g.39552765G>A	ENSP00000263881:p.Pro271Leu					MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271L	p.P271L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			12	1136	-		all_hematologic(82;0.211)	271			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.812C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700628	0.68501	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.28895	1.59;2.26;1.59	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	M	0.93062	3.375	0.80722	D	1	B;B	0.23249	0.026;0.082	B;B	0.25987	0.024;0.065	T	0.52946	-0.8507	9	.	.	.	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	271;271	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	L	271;208;271	ENSP00000263881:P271L;ENSP00000416958:P208L;ENSP00000345434:P271L	.	P	-	2	0	MAP4K3	39406269	1.000000	0.71417	0.994000	0.49952	0.829000	0.46940	4.329000	0.59260	2.774000	0.95407	0.585000	0.79938	CCT		0.289	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		17	31	0	0	0	1	0	17	31				
SI	6476	broad.mit.edu	37	3	164735571	164735571	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164735571A>G	ENST00000264382.3	-	30	3673	c.3611T>C	c.(3610-3612)gTt>gCt	p.V1204A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1204	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTTGTTGCAACTTCTGGAGT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3610-3612)gTt>gCt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						56.0	54.0	55.0					3																	164735571		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735571A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3611T>C	3.37:g.164735571A>G	ENSP00000264382:p.Val1204Ala	HNSCC(35;0.089)					p.V1204A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			30	3673	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1204			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3611T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	4.435	0.080472	0.08533	.	.	ENSG00000090402	ENST00000264382	D	0.90788	-2.73	4.91	2.31	0.28768	Glycoside hydrolase, superfamily (1);	0.390333	0.27486	N	0.019147	T	0.77928	0.4204	N	0.05050	-0.12	0.22199	N	0.999293	B	0.24721	0.11	B	0.35971	0.215	T	0.64563	-0.6378	10	0.07813	T	0.8	.	7.7918	0.29125	0.6079:0.2648:0.0:0.1273	.	1204	P14410	SUIS_HUMAN	A	1204	ENSP00000264382:V1204A	ENSP00000264382:V1204A	V	-	2	0	SI	166218265	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	3.100000	0.50275	0.857000	0.35407	0.402000	0.26972	GTT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		13	24	0	0	0	1	0	13	24				
HCFC1	3054	broad.mit.edu	37	X	153220649	153220649	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153220649C>T	ENST00000310441.7	-	17	4167	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	HCFC1_ENST00000354233.3_Silent_p.Q998Q|HCFC1_ENST00000369984.4_Silent_p.Q1067Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1067					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTACCATTCTGCTGGCCCA	0.642																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3199-3201)caG>caA		host cell factor C1 (VP16-accessory protein)							53.0	58.0	56.0					X																	153220649		2181	4259	6440	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153220649C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3201G>A	X.37:g.153220649C>T						HCFC1_ENST00000369984.4_Silent_p.Q1067Q|HCFC1_ENST00000354233.3_Silent_p.Q998Q	p.Q1067Q	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4167	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1067					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.3201G>A	CCDS44020.1																																																																																				0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		38	56	0	0	0	1	0	38	56				
KCNU1	157855	broad.mit.edu	37	8	36793292	36793292	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:36793292C>T	ENST00000399881.3	+	27	3341	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1102					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)		CCTCTCTTTTCCTAAGCAAAT	0.373																																						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.(3304-3306)Cct>Tct		potassium channel, subfamily U, member 1							148.0	143.0	145.0					8																	36793292		1888	4121	6009	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793292C>T	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.3304C>T	8.37:g.36793292C>T	ENSP00000382770:p.Pro1102Ser						p.P1102S	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3341	+			1102						Missense_Mutation	SNP	ENST00000399881.3	37	c.3304C>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	1.236	-0.622835	0.03636	.	.	ENSG00000215262	ENST00000399881	T	0.32988	1.43	3.67	-7.33	0.01431	.	.	.	.	.	T	0.08582	0.0213	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26883	-1.0090	9	0.39692	T	0.17	-1.6462	3.4248	0.07406	0.1205:0.4117:0.3021:0.1656	.	1102	A8MYU2	KCNU1_HUMAN	S	1102	ENSP00000382770:P1102S	ENSP00000382770:P1102S	P	+	1	0	KCNU1	36912450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.140000	0.03210	-2.002000	0.00963	-1.167000	0.01749	CCT		0.373	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		48	65	0	0	0	1	0	48	65				
MED11	400569	broad.mit.edu	37	17	4638418	4638418	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4638418C>T	ENST00000293777.5	+	0	833				CXCL16_ENST00000293778.6_Silent_p.R248R|CXCL16_ENST00000574412.1_Silent_p.R248R|RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GCCCCCTCCTCCTCTTGCACA	0.612																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(742-744)agG>agA		chemokine (C-X-C motif) ligand 16							53.0	48.0	50.0					17																	4638418		2203	4300	6503	SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638418C>T	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638418C>T						CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Silent_p.R248R	p.R248R	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN			4	1166	-			229					Q6NS89	Silent	SNP	ENST00000293777.5	37	c.744G>A	CCDS32533.1																																																																																				0.612	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		24	21	0	0	0	1	0	24	21				
SEC14L1	6397	broad.mit.edu	37	17	75199689	75199689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199689G>A	ENST00000413679.2	+	10	1350	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	SEC14L1_ENST00000392476.2_Missense_Mutation_p.M349I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M349I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M315I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M315I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.M349I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	349	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGGCAGATGGACACCAAAG	0.587																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1045-1047)atG>atA		SEC14-like 1 (S. cerevisiae)							50.0	43.0	45.0					17																	75199689		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75199689G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1047G>A	17.37:g.75199689G>A	ENSP00000394716:p.Met349Ile					SEC14L1_ENST00000430767.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M349I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M315I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.M349I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M315I	p.M349I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			10	1350	+			349			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1047G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363874	0.82353	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.08	5.08	0.68730	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	N	0.25286	0.73	0.80722	D	1	B;B	0.32382	0.317;0.368	B;B	0.35278	0.126;0.199	T	0.67684	-0.5607	10	0.51188	T	0.08	-63.5859	17.8497	0.88742	0.0:0.0:1.0:0.0	.	349;349	Q92503-2;Q92503	.;S14L1_HUMAN	I	349;349;349;349;349;315	ENSP00000376268:M349I;ENSP00000406030:M349I;ENSP00000390392:M349I;ENSP00000408169:M349I;ENSP00000394716:M349I;ENSP00000389838:M315I	ENSP00000376268:M349I	M	+	3	0	SEC14L1	72711284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.355000	0.97087	2.518000	0.84900	0.563000	0.77884	ATG		0.587	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		6	15	0	0	0	1	0	6	15				
IRS4	8471	broad.mit.edu	37	X	107979238	107979238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107979238C>T	ENST00000372129.2	-	1	413	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	113	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGGCATTTTCGTAGTATTCC	0.667																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(337-339)Gaa>Aaa		insulin receptor substrate 4							47.0	41.0	43.0					X																	107979238		2203	4297	6500	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979238C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.337G>A	X.37:g.107979238C>T	ENSP00000361202:p.Glu113Lys						p.E113K	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	413	-			113			PH.			Missense_Mutation	SNP	ENST00000372129.2	37	c.337G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160500	0.78226	.	.	ENSG00000133124	ENST00000372129	T	0.68903	-0.36	3.87	2.98	0.34508	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.139318	0.45606	D	0.000344	T	0.38134	0.1029	N	0.05012	-0.13	0.35857	D	0.827235	P	0.48998	0.918	B	0.31547	0.132	T	0.54918	-0.8221	10	0.59425	D	0.04	-4.5367	12.7306	0.57195	0.0:0.8325:0.1675:0.0	.	113	O14654	IRS4_HUMAN	K	113	ENSP00000361202:E113K	ENSP00000361202:E113K	E	-	1	0	IRS4	107865894	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.671000	0.68095	0.762000	0.33152	0.529000	0.55759	GAA		0.667	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		45	61	0	0	0	1	0	45	61				
PCDHGA8	9708	broad.mit.edu	37	5	140773134	140773134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140773134C>T	ENST00000398604.2	+	1	754	c.754C>T	c.(754-756)Ctt>Ttt	p.L252F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAAAGTCCTTGAGAACAT	0.522																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(754-756)Ctt>Ttt									78.0	84.0	82.0					5																	140773134		1997	4172	6169	SO:0001583	missense	9708							g.chr5:140773134C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.754C>T	5.37:g.140773134C>T	ENSP00000381605:p.Leu252Phe					PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L252F	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	754	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.754C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	3.871	-0.027964	0.07589	.	.	ENSG00000253767	ENST00000398604	T	0.52057	0.68	5.41	5.41	0.78517	Cadherin (4);Cadherin-like (1);	0.335242	0.16209	U	0.224573	T	0.37732	0.1014	L	0.27944	0.81	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.15484	0.013;0.012	T	0.23547	-1.0185	10	0.45353	T	0.12	.	14.5397	0.67984	0.1471:0.8529:0.0:0.0	.	252;252	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	F	252	ENSP00000381605:L252F	ENSP00000381605:L252F	L	+	1	0	PCDHGA8	140753318	0.000000	0.05858	0.945000	0.38365	0.102000	0.19082	-0.510000	0.06328	2.552000	0.86080	0.655000	0.94253	CTT		0.522	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		37	73	0	0	0	1	0	37	73				
ITGA5	3678	broad.mit.edu	37	12	54795370	54795370	+	Splice_Site	SNP	C	C	T	rs374858882		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54795370C>T	ENST00000293379.4	-	23	2647	c.2386G>A	c.(2386-2388)Ggt>Agt	p.G796S	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	796					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.G796C(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GGCACTGACCCGTTCAGGGTG	0.562																																						ENST00000293379.4																			1	Substitution - Missense(1)	p.G796C(1)	lung(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.e23+1		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	131.0	123.0	126.0		2386	4.0	1.0	12		126	0,8600		0,0,4300	no	missense-near-splice	ITGA5	NM_002205.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	796/1050	54795370	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795370C>T		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2387+1G>A	12.37:g.54795370C>T						RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.G796_splice	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			23	2647	-			796					Q96HA5	Splice_Site	SNP	ENST00000293379.4	37	c.2387_splice	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865789	0.91511	2.27E-4	0.0	ENSG00000161638	ENST00000293379	T	0.63096	-0.02	4.91	4.01	0.46588	Integrin alpha-2 (1);	0.054092	0.85682	D	0.000000	T	0.78394	0.4276	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.80188	-0.1486	10	0.87932	D	0	.	9.2744	0.37690	0.0:0.8986:0.0:0.1014	.	796	P08648	ITA5_HUMAN	S	796	ENSP00000293379:G796S	ENSP00000293379:G796S	G	-	1	0	ITGA5	53081637	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.337000	0.59310	1.179000	0.42884	0.557000	0.71058	GGT		0.562	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1		Missense_Mutation	59	91	0	0	0	1	0	59	91				
MAP3K10	4294	broad.mit.edu	37	19	40704301	40704301	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40704301C>T	ENST00000253055.3	+	2	990	c.702C>T	c.(700-702)atC>atT	p.I234I	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGGAGGCCATCGAGAACCACA	0.637																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(700-702)atC>atT		mitogen-activated protein kinase kinase kinase 10							89.0	75.0	79.0					19																	40704301		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40704301C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.702C>T	19.37:g.40704301C>T						MAP3K10_ENST00000593906.1_3'UTR	p.I234I	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			2	990	+			234			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.702C>T	CCDS12549.1																																																																																				0.637	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		20	31	0	0	0	1	0	20	31				
RANGAP1	5905	broad.mit.edu	37	22	41652030	41652030	+	Silent	SNP	G	G	A	rs150178245	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41652030G>A	ENST00000455915.2	-	9	2537	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	RANGAP1_ENST00000356244.3_Silent_p.S356S|RANGAP1_ENST00000407260.4_Silent_p.S301S|RANGAP1_ENST00000405486.1_Silent_p.S356S			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	356					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTACCTGAGGGACGCCAGCA	0.577																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1066-1068)tcC>tcT		Ran GTPase activating protein 1							47.0	38.0	41.0					22																	41652030		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41652030G>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1068C>T	22.37:g.41652030G>A						RANGAP1_ENST00000356244.3_Silent_p.S356S|RANGAP1_ENST00000407260.4_Silent_p.S301S|RANGAP1_ENST00000405486.1_Silent_p.S356S	p.S356S			P46060	RAGP1_HUMAN			9	2537	-			356					Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1068C>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446988	0.25987	.	.	ENSG00000100401	ENST00000446258	.	.	.	5.25	3.06	0.35304	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40213	-0.9575	4	.	.	.	-25.7132	4.2107	0.10510	0.1351:0.2256:0.5187:0.1206	.	.	.	.	S	252	.	.	P	-	1	0	RANGAP1	39981976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.591000	0.23969	2.467000	0.83353	0.561000	0.74099	CCT		0.577	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		23	28	0	0	0	1	0	23	28				
SLC12A6	9990	broad.mit.edu	37	15	34542830	34542830	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:34542830A>C	ENST00000354181.3	-	12	2084		c.e12+1		SLC12A6_ENST00000397707.2_Splice_Site|SLC12A6_ENST00000451844.2_Splice_Site|SLC12A6_ENST00000397702.2_Splice_Site|SLC12A6_ENST00000558589.1_Splice_Site|SLC12A6_ENST00000558667.1_Splice_Site|SLC12A6_ENST00000290209.5_Splice_Site|SLC12A6_ENST00000458406.2_Splice_Site|SLC12A6_ENST00000560611.1_Splice_Site|SLC12A6_ENST00000560164.1_Splice_Site			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TAAAAAGGATACAAACAAAGG	0.408																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.e12+1		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						98.0	91.0	94.0					15																	34542830		2201	4298	6499	SO:0001630	splice_region_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34542830A>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1591+1T>G	15.37:g.34542830A>C						SLC12A6_ENST00000458406.2_Splice_Site|SLC12A6_ENST00000397702.2_Splice_Site|SLC12A6_ENST00000397707.2_Splice_Site|SLC12A6_ENST00000290209.5_Splice_Site|SLC12A6_ENST00000558667.1_Splice_Site|SLC12A6_ENST00000451844.2_Splice_Site|SLC12A6_ENST00000560611.1_Splice_Site|SLC12A6_ENST00000558589.1_Splice_Site|SLC12A6_ENST00000560164.1_Splice_Site				Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	12	2084	-		all_lung(180;2.78e-08)						A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Splice_Site	SNP	ENST00000354181.3	37		CCDS58352.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111605	0.77210	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6129	0.56560	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC12A6	32330122	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.139000	0.94554	2.073000	0.62155	0.528000	0.53228	.		0.408	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	Intron	12	44	0	0	0	1	0	12	44				
OR51G1	79324	broad.mit.edu	37	11	4945214	4945214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4945214G>A	ENST00000321961.2	-	1	423	c.356C>T	c.(355-357)tCc>tTc	p.S119F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	119						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(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGACATGGATAACAGAAC	0.493																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(355-357)tCc>tTc		olfactory receptor, family 51, subfamily G, member 1							106.0	97.0	100.0					11																	4945214		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945214G>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.356C>T	11.37:g.4945214G>A	ENSP00000322546:p.Ser119Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S119F	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	423	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	119					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.356C>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.341072	0.24339	.	.	ENSG00000176879	ENST00000321961	T	0.19532	2.14	4.2	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38778	U	0.001579	T	0.23926	0.0579	N	0.17838	0.53	0.21416	N	0.999693	D	0.69078	0.997	D	0.68943	0.961	T	0.02020	-1.1228	10	0.87932	D	0	.	5.6214	0.17459	0.1802:0.1667:0.653:0.0	.	119	Q8NGK1	O51G1_HUMAN	F	119	ENSP00000322546:S119F	ENSP00000322546:S119F	S	-	2	0	OR51G1	4901790	0.001000	0.12720	0.889000	0.34880	0.043000	0.13939	1.354000	0.34056	0.987000	0.38709	-0.232000	0.12228	TCC		0.493	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		22	37	0	0	0	1	0	22	37				
CEP95	90799	broad.mit.edu	37	17	62521962	62521962	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62521962C>T	ENST00000556440.2	+	9	1494	c.984C>T	c.(982-984)gtC>gtT	p.V328V	CEP95_ENST00000553412.1_Silent_p.V164V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	328						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAGCTCAGGTCCAAGGGCCTA	0.393																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(982-984)gtC>gtT		centrosomal protein 95kDa							71.0	70.0	70.0					17																	62521962		1853	4099	5952	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62521962C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.984C>T	17.37:g.62521962C>T						CEP95_ENST00000553412.1_Silent_p.V164V	p.V328V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			9	1494	+			328					B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.984C>T	CCDS45763.1																																																																																				0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		4	22	0	0	0	1	0	4	22				
ZMAT1	84460	broad.mit.edu	37	X	101139505	101139505	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101139505C>T	ENST00000372782.3	-	7	941	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Silent_p.K127K|ZMAT1_ENST00000540921.1_Silent_p.K298K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	298						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATGTCTTCTTTGAATGAG	0.378																																						ENST00000458570.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(379-381)aaG>aaA		zinc finger, matrin-type 1							171.0	160.0	164.0					X																	101139505		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101139505C>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.894G>A	X.37:g.101139505C>T						ZMAT1_ENST00000372782.3_Silent_p.K298K|ZMAT1_ENST00000540921.1_Silent_p.K298K|ZMAT1_ENST00000494068.1_5'UTR	p.K127K			A7MD47	A7MD47_HUMAN			9	1711	-			127					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.381G>A	CCDS35348.1																																																																																				0.378	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			50	118	0	0	0	1	0	50	118				
ERBB3	2065	broad.mit.edu	37	12	56491581	56491581	+	Missense_Mutation	SNP	C	C	T	rs576617052		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56491581C>T	ENST00000267101.3	+	21	2913	c.2473C>T	c.(2473-2475)Ctt>Ttt	p.L825F	ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.L182F|ERBB3_ENST00000553131.1_Missense_Mutation_p.L66F|ERBB3_ENST00000415288.2_Missense_Mutation_p.L766F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTACTACCTTGAGGAACA	0.483																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(2473-2475)Ctt>Ttt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							184.0	159.0	167.0					12																	56491581		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56491581C>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2473C>T	12.37:g.56491581C>T	ENSP00000267101:p.Leu825Phe					ERBB3_ENST00000450146.2_Missense_Mutation_p.L182F|ERBB3_ENST00000415288.2_Missense_Mutation_p.L766F|ERBB3_ENST00000553131.1_Missense_Mutation_p.L66F	p.L825F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		21	2913	+			825			Protein kinase.		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.2473C>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555570	0.86231	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	D	0.97056	0.9038	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97368	0.9974	10	0.87932	D	0	.	12.4057	0.55439	0.0:0.922:0.0:0.078	.	825	P21860	ERBB3_HUMAN	F	825;182;766;66	ENSP00000267101:L825F;ENSP00000399178:L182F;ENSP00000408340:L766F;ENSP00000449129:L66F	ENSP00000267101:L825F	L	+	1	0	ERBB3	54777848	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.939000	0.56591	2.873000	0.98535	0.561000	0.74099	CTT		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			46	106	0	0	0	1	0	46	106				
CFAP58	159686	broad.mit.edu	37	10	106118284	106118284	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106118284A>G	ENST00000369704.3	+	2	329	c.195A>G	c.(193-195)agA>agG	p.R65R	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		65						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCAAATGCAGAGAGCTAAATG	0.428																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(193-195)agA>agG		coiled-coil domain containing 147							83.0	73.0	76.0					10																	106118284		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106118284A>G																												ENST00000369704.3:c.195A>G	10.37:g.106118284A>G						CCDC147_ENST00000312902.5_5'UTR	p.R65R	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	2	329	+		Colorectal(252;0.103)|Breast(234;0.122)	65					D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.195A>G	CCDS31282.1																																																																																				0.428	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			18	34	0	0	0	1	0	18	34				
TBC1D10B	26000	broad.mit.edu	37	16	30376483	30376483	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30376483G>A	ENST00000409939.3	-	3	1187	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	369	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGTACTGCCAGGCTTTGGCTC	0.587																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1105-1107)gcC>gcT		TBC1 domain family, member 10B							84.0	79.0	81.0					16																	30376483		2197	4300	6497	SO:0001819	synonymous_variant	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30376483G>A	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1107C>T	16.37:g.30376483G>A							p.A369A	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		3	1187	-			369			Rab-GAP TBC.		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	c.1107C>T	CCDS10676.2																																																																																				0.587	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		22	34	0	0	0	1	0	22	34				
SP100	6672	broad.mit.edu	37	2	231380100	231380100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380100C>T	ENST00000264052.5	+	25	2740	c.2385C>T	c.(2383-2385)tcC>tcT	p.S795S	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGCCTGTCCATTGATGATG	0.463																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2383-2385)tcC>tcT		SP100 nuclear antigen							60.0	63.0	62.0					2																	231380100		2202	4300	6502	SO:0001819	synonymous_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380100C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2385C>T	2.37:g.231380100C>T						SP100_ENST00000340126.4_Intron	p.S795S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2740	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	795					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	c.2385C>T	CCDS2477.1																																																																																				0.463	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		21	22	0	0	0	1	0	21	22				
HMGCS2	3158	broad.mit.edu	37	1	120306990	120306990	+	Missense_Mutation	SNP	C	C	T	rs368014391		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120306990C>T	ENST00000369406.3	-	2	413	c.364G>A	c.(364-366)Gac>Aac	p.D122N	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.D122N	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	122					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CCCACAGAGTCCCATGGGAGC	0.552																																						ENST00000369406.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(364-366)Gac>Aac		3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	115.0	107.0	110.0		364,364	5.3	1.0	1		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HMGCS2	NM_001166107.1,NM_005518.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	122/467,122/509	120306990	1,13005	2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120306990C>T	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.364G>A	1.37:g.120306990C>T	ENSP00000358414:p.Asp122Asn					HMGCS2_ENST00000544913.2_Missense_Mutation_p.D122N|HMGCS2_ENST00000476640.1_5'UTR	p.D122N	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	2	413	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	122					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.364G>A	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192461	0.38707	0.0	1.16E-4	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.88509	-2.39;-2.37	5.31	5.31	0.75309	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.64402	D	0.000003	T	0.67401	0.2889	N	0.10837	0.055	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.66352	-0.5945	10	0.08837	T	0.75	-0.4701	17.9307	0.88996	0.0:1.0:0.0:0.0	.	122;122	B7Z8R3;P54868	.;HMCS2_HUMAN	N	122	ENSP00000358414:D122N;ENSP00000439495:D122N	ENSP00000358414:D122N	D	-	1	0	HMGCS2	120108513	1.000000	0.71417	0.987000	0.45799	0.955000	0.61496	3.704000	0.54815	2.642000	0.89623	0.650000	0.86243	GAC		0.552	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		23	72	0	0	0	1	0	23	72				
GPR107	57720	broad.mit.edu	37	9	132891023	132891023	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:132891023C>T	ENST00000372406.1	+	19	2196	c.1689C>T	c.(1687-1689)gaC>gaT	p.D563D	GPR107_ENST00000372410.3_Silent_p.D534D|GPR107_ENST00000347136.6_Silent_p.D515D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	563						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AAGAAGAAGACTTGGAAATGG	0.483																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1687-1689)gaC>gaT		G protein-coupled receptor 107							138.0	140.0	139.0					9																	132891023		2203	4300	6503	SO:0001819	synonymous_variant	57720					integral to membrane		g.chr9:132891023C>T	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1689C>T	9.37:g.132891023C>T						GPR107_ENST00000372410.3_Silent_p.D534D|GPR107_ENST00000347136.6_Silent_p.D515D	p.D563D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			19	2196	+		Ovarian(14;0.000531)	563					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	ENST00000372406.1	37	c.1689C>T	CCDS48041.1																																																																																				0.483	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			80	27	0	0	0	1	0	80	27				
UTP14A	10813	broad.mit.edu	37	X	129063382	129063382	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129063382C>T	ENST00000394422.3	+	15	2142	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	UTP14A_ENST00000425117.2_Missense_Mutation_p.S653F|UTP14A_ENST00000371042.3_Missense_Mutation_p.S537F|UTP14A_ENST00000371051.5_Missense_Mutation_p.S651F|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	705					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCCATAGGATCCACATGGAAC	0.488																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(2113-2115)tCc>tTc		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							107.0	95.0	99.0					X																	129063382		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129063382C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2114C>T	X.37:g.129063382C>T	ENSP00000377944:p.Ser705Phe					UTP14A_ENST00000371042.3_Missense_Mutation_p.S537F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.S651F|UTP14A_ENST00000425117.2_Missense_Mutation_p.S653F	p.S705F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			15	2142	+			705					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.2114C>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	-	11.39	1.624619	0.28889	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	4.74	3.88	0.44766	.	0.623617	0.17092	N	0.187346	T	0.27900	0.0687	M	0.82923	2.615	0.34733	D	0.729941	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.13407	0.007;0.009;0.008	T	0.25537	-1.0129	10	0.62326	D	0.03	-5.0287	8.4139	0.32659	0.0:0.7649:0.1502:0.0849	.	651;653;705	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	F	653;705;651;537	ENSP00000388669:S653F;ENSP00000377944:S705F;ENSP00000360090:S651F;ENSP00000360081:S537F	ENSP00000360081:S537F	S	+	2	0	UTP14A	128891063	0.316000	0.24580	0.853000	0.33588	0.931000	0.56810	2.422000	0.44696	0.819000	0.34492	-0.209000	0.12711	TCC		0.488	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		50	99	0	0	0	1	0	50	99				
DST	667	broad.mit.edu	37	6	56494202	56494202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56494202G>A	ENST00000361203.3	-	28	3695	c.3688C>T	c.(3688-3690)Cat>Tat	p.H1230Y	DST_ENST00000370788.2_Missense_Mutation_p.H1230Y|DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y|DST_ENST00000370754.5_Missense_Mutation_p.H1408Y|DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y			Q03001	DYST_HUMAN	dystonin	1230					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGGCATGGAATACCTGT	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4222-4224)Cat>Tat		dystonin							142.0	130.0	134.0					6																	56494202		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494202G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3688C>T	6.37:g.56494202G>A	ENSP00000354508:p.His1230Tyr					DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y|DST_ENST00000361203.3_Missense_Mutation_p.H1230Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y|DST_ENST00000370788.2_Missense_Mutation_p.H1230Y	p.H1408Y			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4221	-	Lung NSC(77;0.103)		1230					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4222C>T		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805936	0.90623	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;T;D;T;T	0.83506	1.14;-0.01;-0.01;0.11;0.93;-1.51;0.08;-0.03;-0.31;-1.73;-0.67;-0.09	5.7	5.7	0.88788	.	0.000000	0.53938	D	0.000043	D	0.88644	0.6492	L	0.60455	1.87	0.26873	N	0.967713	D;D;D;D;D;D;D;D	0.71674	0.976;0.993;0.976;0.979;0.988;0.993;0.976;0.998	B;D;B;P;D;D;B;D	0.74348	0.435;0.968;0.435;0.658;0.911;0.983;0.435;0.947	D	0.88608	0.3154	9	0.66056	D	0.02	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	1230;1230;1408;904;904;904;1230;904	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	Y	904;1408;1230;1230;904;1230;1230;1230;904;1270;904;904	ENSP00000244364:H904Y;ENSP00000359790:H1408Y;ENSP00000359805:H1230Y;ENSP00000400883:H1230Y;ENSP00000393645:H904Y;ENSP00000307959:H1230Y;ENSP00000359824:H1230Y;ENSP00000354508:H1230Y;ENSP00000404924:H904Y;ENSP00000431030:H1270Y;ENSP00000359801:H904Y;ENSP00000431003:H904Y	ENSP00000244364:H904Y	H	-	1	0	DST	56602161	1.000000	0.71417	0.996000	0.52242	0.933000	0.57130	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	CAT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	52	0	0	0	1	0	15	52				
TMPPE	643853	broad.mit.edu	37	3	33135676	33135676	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:33135676G>A	ENST00000342462.4	-	2	202	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	4						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						ACAGCTGCCTGAAGATGGCCA	0.572																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(10-12)ttC>ttT		transmembrane protein with metallophosphoesterase domain							51.0	50.0	50.0					3																	33135676		2198	4286	6484	SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33135676G>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.12C>T	3.37:g.33135676G>A						GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron	p.F4F	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	202	-			4					B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.12C>T	CCDS33732.1																																																																																				0.572	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		25	41	0	0	0	1	0	25	41				
VEGFC	7424	broad.mit.edu	37	4	177608422	177608422	+	Missense_Mutation	SNP	G	G	A	rs186096619		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177608422G>A	ENST00000280193.2	-	6	1479	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	355	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACATTTTCCAGGATTTAGGGG	0.438																																						ENST00000280193.2																			1	Substitution - Missense(1)	p.P355H(1)	lung(1)	biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41						c.(1063-1065)cCt>cTt		vascular endothelial growth factor C							256.0	229.0	237.0					4																	177608422		1843	4093	5936	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608422G>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1064C>T	4.37:g.177608422G>A	ENSP00000280193:p.Pro355Leu					RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	p.P355L	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1479	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	355			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1064C>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003589	0.54254	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	5.62	0.85841	.	0.205066	0.44688	D	0.000427	T	0.44498	0.1296	L	0.50333	1.59	0.51012	D	0.999904	P	0.44734	0.842	B	0.32677	0.15	T	0.53940	-0.8367	9	0.72032	D	0.01	-9.8581	15.1762	0.72913	0.0:0.1404:0.8596:0.0	.	355	P49767	VEGFC_HUMAN	L	355	.	ENSP00000280193:P355L	P	-	2	0	VEGFC	177845416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.102000	0.50291	2.633000	0.89246	0.655000	0.94253	CCT		0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		42	114	0	0	0	1	0	42	114				
PTK2B	2185	broad.mit.edu	37	8	27312077	27312077	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27312077C>T	ENST00000397501.1	+	35	3571	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PTK2B_ENST00000420218.2_Silent_p.I879I|PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000544172.1_Silent_p.I921I|PTK2B_ENST00000338238.4_Silent_p.I879I|PTK2B_ENST00000517339.1_Silent_p.I879I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	921	Focal adhesion targeting (FAT).|Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.I921I(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GGAAGCTCATCGGGAGCGTGG	0.597																																						ENST00000397501.1																			2	Substitution - coding silent(2)	p.I921I(2)	large_intestine(2)	breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2761-2763)atC>atT		protein tyrosine kinase 2 beta							89.0	68.0	75.0					8																	27312077		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27312077C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2763C>T	8.37:g.27312077C>T						PTK2B_ENST00000517339.1_Silent_p.I879I|PTK2B_ENST00000420218.2_Silent_p.I879I|PTK2B_ENST00000338238.4_Silent_p.I879I|PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000544172.1_Silent_p.I921I	p.I921I	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	35	3571	+		Ovarian(32;2.72e-05)	921			Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2763C>T	CCDS6057.1																																																																																				0.597	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		16	18	0	0	0	1	0	16	18				
CERCAM	51148	broad.mit.edu	37	9	131191230	131191230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131191230C>T	ENST00000372838.4	+	8	1383	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R251C|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	329					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGCCTGGCTCGCAGGCCTGA	0.652																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(751-753)Cgc>Tgc		cerebral endothelial cell adhesion molecule							40.0	28.0	32.0					9																	131191230		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131191230C>T	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.985C>T	9.37:g.131191230C>T	ENSP00000361929:p.Arg329Cys					CERCAM_ENST00000372838.4_Missense_Mutation_p.R329C	p.R251C			Q5T4B2	GT253_HUMAN			9	3895	+			329					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.751C>T	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754094	0.89843	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	D;D	0.81996	-1.53;-1.56	5.39	5.39	0.77823	.	0.059007	0.64402	D	0.000002	D	0.93242	0.7847	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94654	0.7842	10	0.87932	D	0	-23.3504	17.7205	0.88350	0.0:1.0:0.0:0.0	.	329	Q5T4B2	GT253_HUMAN	C	251;329;282	ENSP00000361933:R251C;ENSP00000361929:R329C	ENSP00000361929:R329C	R	+	1	0	CERCAM	130231051	0.989000	0.36119	1.000000	0.80357	0.644000	0.38419	0.641000	0.24720	2.514000	0.84764	0.557000	0.71058	CGC		0.652	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		9	2	0	0	0	1	0	9	2				
CREBBP	1387	broad.mit.edu	37	16	3781358	3781358	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781358G>A	ENST00000262367.5	-	30	5816	c.5007C>T	c.(5005-5007)acC>acT	p.T1669T	CREBBP_ENST00000382070.3_Silent_p.T1631T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1669	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)		CTCTGGCGAGGGTGAGGAAGG	0.662			"""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.(5005-5007)acC>acT		CREB binding protein							77.0	53.0	62.0					16																	3781358		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.chr16:3781358G>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.5007C>T	16.37:g.3781358G>A						CREBBP_ENST00000382070.3_Silent_p.T1631T	p.T1669T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5816	-		Ovarian(90;0.0266)	1669			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.5007C>T	CCDS10509.1																																																																																				0.662	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	10	0	0	0	1	0	5	10				
COL9A1	1297	broad.mit.edu	37	6	70993476	70993476	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70993476C>T	ENST00000357250.6	-	6	902	c.744G>A	c.(742-744)agG>agA	p.R248R	COL9A1_ENST00000320755.7_5'Flank|COL9A1_ENST00000370496.3_Silent_p.R248R|COL9A1_ENST00000370499.4_5'Flank	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	248	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAGTTTCTCTCCTGGGCCGCA	0.527																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(742-744)agG>agA		collagen, type IX, alpha 1							115.0	92.0	100.0					6																	70993476		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70993476C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.744G>A	6.37:g.70993476C>T						COL9A1_ENST00000370496.3_Silent_p.R248R	p.R248R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			6	902	-			248			Nonhelical region (NC4).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.744G>A	CCDS4971.1																																																																																				0.527	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			9	3	0	0	0	1	0	9	3				
NLRP6	171389	broad.mit.edu	37	11	280493	280493	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280493C>A	ENST00000312165.5	+	4	759	c.759C>A	c.(757-759)atC>atA	p.I253I	NLRP6_ENST00000534750.1_Silent_p.I253I	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	253	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGACCTGATCCTGGACCAGT	0.731																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(757-759)atC>atA		NLR family, pyrin domain containing 6							19.0	19.0	19.0					11																	280493		2197	4296	6493	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:280493C>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.759C>A	11.37:g.280493C>A						NLRP6_ENST00000312165.5_Silent_p.I253I	p.I253I	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	964	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	253			NACHT.		A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.759C>A	CCDS7693.1																																																																																				0.731	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		8	11	1	0	0.000442599	1	0.000443662	8	11				
ZNF106	64397	broad.mit.edu	37	15	42731746	42731746	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42731746G>A	ENST00000263805.4	-	8	4286	c.3960C>T	c.(3958-3960)acC>acT	p.T1320T	ZNF106_ENST00000565611.1_Silent_p.T505T|ZNF106_ENST00000565380.1_Silent_p.T548T	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1320					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTCCAAAGGGGTTTCTGAAG	0.453																																						ENST00000263805.4																			0											c.(3958-3960)acC>acT		zinc finger protein 106							76.0	80.0	79.0					15																	42731746		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42731746G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.3960C>T	15.37:g.42731746G>A						ZNF106_ENST00000565611.1_Silent_p.T505T|ZNF106_ENST00000565380.1_Silent_p.T548T	p.T1320T	NM_022473.1	NP_071918.1					8	4286	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.3960C>T	CCDS32208.1																																																																																				0.453	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		26	52	0	0	0	1	0	26	52				
HOXB3	3213	broad.mit.edu	37	17	46628270	46628270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46628270A>C	ENST00000470495.1	-	2	2169	c.722T>G	c.(721-723)aTg>aGg	p.M241R	HOXB3_ENST00000489475.1_Missense_Mutation_p.M168R|HOXB3_ENST00000311626.4_Missense_Mutation_p.M241R|HOXB3_ENST00000460160.1_Missense_Mutation_p.M109R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.M107R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.M109R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.M168R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.M241R|HOXB3_ENST00000498678.1_Missense_Mutation_p.M241R			P14651	HXB3_HUMAN	homeobox B3	241					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGTACTTCATGCGCCGGTT	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(721-723)aTg>aGg		homeobox B3							97.0	101.0	100.0					17																	46628270		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628270A>C		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.722T>G	17.37:g.46628270A>C	ENSP00000417207:p.Met241Arg		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000311626.4_Missense_Mutation_p.M241R|HOXB3_ENST00000472863.1_Missense_Mutation_p.M168R|HOXB3_ENST00000476342.1_Missense_Mutation_p.M241R|HOXB3_ENST00000485909.2_Missense_Mutation_p.M109R|HOXB3_ENST00000460160.1_Missense_Mutation_p.M109R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.M107R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.M241R|HOXB3_ENST00000489475.1_Missense_Mutation_p.M168R	p.M241R			P14651	HXB3_HUMAN			2	2169	-			241					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.722T>G	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.728170	0.69074	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	T;T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	3.46	3.46	0.39613	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85535	0.5719	M	0.92317	3.295	0.80722	D	1	D	0.71674	0.998	D	0.65684	0.937	D	0.88849	0.3318	10	0.87932	D	0	.	12.4203	0.55516	1.0:0.0:0.0:0.0	.	241	P14651	HXB3_HUMAN	R	241;168;241;241;107;109;109;168;241	ENSP00000417207:M241R;ENSP00000419676:M168R;ENSP00000308252:M241R;ENSP00000420595:M241R;ENSP00000449977:M107R;ENSP00000418035:M109R;ENSP00000438747:M109R;ENSP00000418729:M168R;ENSP00000418892:M241R	ENSP00000308252:M241R	M	-	2	0	HOXB3	43983269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.793000	0.91862	1.595000	0.50050	0.528000	0.53228	ATG		0.637	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			49	82	0	0	0	1	0	49	82				
MMP20	9313	broad.mit.edu	37	11	102465488	102465488	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102465488C>T	ENST00000260228.2	-	7	966	c.954G>A	c.(952-954)cgG>cgA	p.R318R	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	337					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TCCAGAAAATCCTATGGGACA	0.418																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e7-1		matrix metallopeptidase 20							51.0	49.0	50.0					11																	102465488		2203	4299	6502	SO:0001630	splice_region_variant	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102465488C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.954-1G>A	11.37:g.102465488C>T						MMP20_ENST00000544938.1_5'UTR	p.R318_splice	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	7	966	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	318			Hemopexin-like 1.		D3DUA8|Q9H3Q0	Splice_Site	SNP	ENST00000260228.2	37	c.953_splice	CCDS8318.1																																																																																				0.418	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		Silent	9	19	0	0	0	1	0	9	19				
KIAA0430	9665	broad.mit.edu	37	16	15715623	15715623	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715623G>A	ENST00000396368.3	-	12	2812	c.2606C>T	c.(2605-2607)aCc>aTc	p.T869I	KIAA0430_ENST00000602337.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T538I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T869I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T704I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	869	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGCAGCCCCGGTGGCAAGTGA	0.413																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2605-2607)aCc>aTc		KIAA0430							97.0	92.0	93.0					16																	15715623		1870	4113	5983	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15715623G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2606C>T	16.37:g.15715623G>A	ENSP00000379654:p.Thr869Ile					KIAA0430_ENST00000551742.1_Missense_Mutation_p.T869I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T704I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T538I	p.T869I	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			12	2812	-			868			RRM.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2606C>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881634	0.91740	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.72	5.72	0.89469	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.79257	0.4415	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.994	T	0.78929	-0.2010	9	0.56958	D	0.05	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	868;866;865;868	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	I	869;704;868;538;866;869;716	.	ENSP00000315718:T868I	T	-	2	0	KIAA0430	15623124	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	8.932000	0.92897	2.717000	0.92951	0.655000	0.94253	ACC		0.413	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		26	33	0	0	0	1	0	26	33				
CDH10	1008	broad.mit.edu	37	5	24535388	24535388	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535388C>T	ENST00000264463.4	-	5	1154	c.647G>A	c.(646-648)gGt>gAt	p.G216D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTGATGATACCTTGAGAAAA	0.368										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.e5-1		cadherin 10, type 2 (T2-cadherin)							130.0	111.0	118.0					5																	24535388		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535388C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.647-1G>A	5.37:g.24535388C>T		HNSCC(23;0.051)					p.G216_splice	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1154	-			216			Cadherin 2.		Q9ULB3	Splice_Site	SNP	ENST00000264463.4	37	c.646_splice	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802276	0.90538	.	.	ENSG00000040731	ENST00000264463	T	0.04454	3.62	5.69	5.69	0.88448	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	H	0.96833	3.89	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55761	-0.8090	10	0.87932	D	0	.	18.8001	0.92013	0.0:1.0:0.0:0.0	.	216	Q9Y6N8	CAD10_HUMAN	D	216	ENSP00000264463:G216D	ENSP00000264463:G216D	G	-	2	0	CDH10	24571145	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.686000	0.91538	0.655000	0.94253	GGT		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Missense_Mutation	18	36	0	0	0	1	0	18	36				
TTN	7273	broad.mit.edu	37	2	179596985	179596985	+	Missense_Mutation	SNP	G	G	A	rs566415754		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596985G>A	ENST00000591111.1	-	55	15984	c.15760C>T	c.(15760-15762)Cct>Tct	p.P5254S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5571S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12073	Ig-like 33.				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)			TTAATTGGAGGGGTACCAGTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20236	0.0		0.0	False		,,,				2504	0.001					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.(16711-16713)Cct>Tct		titin							127.0	123.0	124.0					2																	179596985		1876	4130	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596985G>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.15760C>T	2.37:g.179596985G>A	ENSP00000465570:p.Pro5254Ser					TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN_ENST00000591111.1_Missense_Mutation_p.P5254S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.P5571S	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)		57	16935	-			5254			Ig-like 36.		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.16711C>T		.	.	.	.	.	.	.	.	.	.	G	13.83	2.354017	0.41700	.	.	ENSG00000155657	ENST00000342992	T	0.73897	-0.79	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92097	0.7495	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93646	0.6969	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5254	Q8WZ42	TITIN_HUMAN	S	4327	ENSP00000343764:P4327S	ENSP00000343764:P4327S	P	-	1	0	TTN	179305230	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.987000	0.88182	2.941000	0.99782	0.655000	0.94253	CCT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	88	0	0	0	1	0	35	88				
TMEM190	147744	broad.mit.edu	37	19	55889466	55889466	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55889466C>T	ENST00000291934.3	+	5	447	c.429C>T	c.(427-429)agC>agT	p.S143S	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	143					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACGGGCAGCGTGCCAGTCG	0.647																																						ENST00000291934.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(427-429)agC>agT		transmembrane protein 190							37.0	36.0	36.0					19																	55889466		2202	4300	6502	SO:0001819	synonymous_variant	147744					integral to membrane		g.chr19:55889466C>T	AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.429C>T	19.37:g.55889466C>T						CTD-2105E13.15_ENST00000595064.1_RNA	p.S143S	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	5	447	+	Breast(117;0.191)		143					A6NJL5	Silent	SNP	ENST00000291934.3	37	c.429C>T	CCDS33113.1																																																																																				0.647	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453042.1	NM_139172		20	32	0	0	0	1	0	20	32				
TTN	7273	broad.mit.edu	37	2	179600389	179600389	+	Silent	SNP	G	G	A	rs373875040	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179600389G>A	ENST00000591111.1	-	48	14057	c.13833C>T	c.(13831-13833)ctC>ctT	p.L4611L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L3684L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L4928L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12363	Ig-like 26.				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)			TCCCTGGGGGGAGTTTTTGCC	0.428																																						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.(14782-14784)ctC>ctT		titin							86.0	82.0	83.0					2																	179600389		1845	4087	5932	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600389G>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.13833C>T	2.37:g.179600389G>A						TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000591111.1_Silent_p.L4611L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.L4928L	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)		50	15008	-			4611			Ig-like 29.		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	Silent	SNP	ENST00000591111.1	37	c.14784C>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	30	0	0	0	1	0	19	30				
TMEM132A	54972	broad.mit.edu	37	11	60694842	60694842	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60694842G>A	ENST00000453848.2	+	2	425	c.267G>A	c.(265-267)agG>agA	p.R89R	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Silent_p.R89R			Q24JP5	T132A_HUMAN	transmembrane protein 132A	89						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGGCCCAGGGCCCAGCCAC	0.632																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(265-267)agG>agA		transmembrane protein 132A							39.0	46.0	43.0					11																	60694842		2203	4299	6502	SO:0001819	synonymous_variant	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694842G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.267G>A	11.37:g.60694842G>A						TMEM132A_ENST00000453848.2_Silent_p.R89R	p.R89R	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	420	+			89					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.267G>A	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		39	80	0	0	0	1	0	39	80				
OR8S1	341568	broad.mit.edu	37	12	48919588	48919588	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48919588C>T	ENST00000310194.1	+	1	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCCATAAGCCCATGTATTTCT	0.473																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(172-174)ccC>ccT		olfactory receptor, family 8, subfamily S, member 1							203.0	190.0	195.0					12																	48919588		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919588C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.174C>T	12.37:g.48919588C>T						OR8S1_ENST00000551654.1_Intron	p.P58P	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	174	+			58						Silent	SNP	ENST00000310194.1	37	c.174C>T	CCDS31789.1																																																																																				0.473	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			42	80	0	0	0	1	0	42	80				
COL25A1	84570	broad.mit.edu	37	4	109740457	109740457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:109740457C>T	ENST00000399132.1	-	36	2404	c.1874G>A	c.(1873-1875)gGg>gAg	p.G625E		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCTGGCTCCCCTTTTTCCCC	0.458																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1873-1875)gGg>gAg		collagen, type XXV, alpha 1							75.0	78.0	77.0					4																	109740457		1894	4108	6002	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740457C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1874G>A	4.37:g.109740457C>T	ENSP00000382083:p.Gly625Glu						p.G625E	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2404	-		Hepatocellular(203;0.217)	625			Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1874G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833461	0.71258	.	.	ENSG00000188517	ENST00000399132;ENST00000333642	D	0.99619	-6.28	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	9	.	.	.	-4.7181	19.5947	0.95530	0.0:1.0:0.0:0.0	.	625	Q9BXS0	COPA1_HUMAN	E	625;627	ENSP00000382083:G625E	.	G	-	2	0	COL25A1	109959906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.636000	0.89361	0.460000	0.39030	GGG		0.458	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		27	23	0	0	0	1	0	27	23				
TNPO2	30000	broad.mit.edu	37	19	12817450	12817450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817450G>A	ENST00000592287.1	-	13	1538	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	TNPO2_ENST00000441499.1_Missense_Mutation_p.P477L|TNPO2_ENST00000450764.2_Missense_Mutation_p.P477L|TNPO2_ENST00000588216.1_Missense_Mutation_p.P477L|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Missense_Mutation_p.P477L|TNPO2_ENST00000425528.1_Missense_Mutation_p.P477L	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGTCATCAGGGGCTTGAGGTG	0.632																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1429-1431)cCc>cTc		transportin 2							47.0	49.0	48.0					19																	12817450		2185	4283	6468	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817450G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1430C>T	19.37:g.12817450G>A	ENSP00000468434:p.Pro477Leu					TNPO2_ENST00000592287.1_Missense_Mutation_p.P477L|TNPO2_ENST00000356861.5_Missense_Mutation_p.P477L|TNPO2_ENST00000441499.1_Missense_Mutation_p.P477L|TNPO2_ENST00000588216.1_Missense_Mutation_p.P477L|TNPO2_ENST00000450764.2_Missense_Mutation_p.P477L	p.P477L			O14787	TNPO2_HUMAN			14	1787	-			477					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.1430C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979340	0.92982	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.91038	3.17	0.80722	D	1	P;P	0.45428	0.858;0.578	B;B	0.38755	0.281;0.061	T	0.82872	-0.0242	10	0.87932	D	0	-11.273	17.4031	0.87466	0.0:0.0:1.0:0.0	.	641;477	Q4LE60;O14787	.;TNPO2_HUMAN	L	641;477;477;477;477;477;477	ENSP00000407182:P477L;ENSP00000389648:P477L;ENSP00000397379:P477L;ENSP00000349321:P477L	ENSP00000349321:P477L	P	-	2	0	TNPO2	12678450	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.441000	0.97557	2.409000	0.81822	0.655000	0.94253	CCC		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		15	25	0	0	0	1	0	15	25				
AUH	549	broad.mit.edu	37	9	93983201	93983201	+	Silent	SNP	G	G	A	rs146636009		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93983201G>A	ENST00000375731.4	-	7	752	c.729C>T	c.(727-729)ctC>ctT	p.L243L	AUH_ENST00000303617.5_Silent_p.L214L	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-CoA hydratase	243					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)|methylglutaconyl-CoA hydratase activity (GO:0004490)|mRNA 3'-UTR binding (GO:0003730)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTTTGCCATCGAGGACTCGCG	0.582																																						ENST00000375731.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(727-729)ctC>ctT		AU RNA binding protein/enoyl-CoA hydratase		G		1,4405	2.1+/-5.4	0,1,2202	106.0	97.0	100.0		729	-5.8	0.9	9	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	AUH	NM_001698.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		243/340	93983201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	549				branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding	g.chr9:93983201G>A	X79888	CCDS6689.1	9q22	2014-09-17	2010-04-30		ENSG00000148090	ENSG00000148090			890	protein-coding gene	gene with protein product		600529	"""AU RNA-binding protein/enoyl-Coenzyme A hydratase"", ""AU RNA binding protein/enoyl-Coenzyme A hydratase"""			7892223	Standard	NM_001698		Approved		uc004arf.4	Q13825	OTTHUMG00000020207	ENST00000375731.4:c.729C>T	9.37:g.93983201G>A						AUH_ENST00000303617.5_Silent_p.L214L	p.L243L	NM_001698.2	NP_001689.1	Q13825	AUHM_HUMAN			7	752	-			243					B1ALV7|B1ALV8|Q8WUE4	Silent	SNP	ENST00000375731.4	37	c.729C>T	CCDS6689.1																																																																																				0.582	AUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053032.1			60	35	0	0	0	1	0	60	35				
KIAA0319L	79932	broad.mit.edu	37	1	35907888	35907888	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35907888G>A	ENST00000325722.3	-	19	3063	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.A380A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	943						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGATTCCCAAGGCAACAACAA	0.448																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2827-2829)gcC>gcT		KIAA0319-like							226.0	219.0	221.0					1																	35907888		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35907888G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2829C>T	1.37:g.35907888G>A						KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.A380A	p.A943A	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			19	3063	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	943					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2829C>T	CCDS390.1																																																																																				0.448	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		40	89	0	0	0	1	0	40	89				
PCDHB4	56131	broad.mit.edu	37	5	140501985	140501985	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140501985G>A	ENST00000194152.1	+	1	405	c.405G>A	c.(403-405)agG>agA	p.R135R	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	135					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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCTGAAAGGGAAGTGCTCT	0.408																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(403-405)agG>agA									52.0	59.0	57.0					5																	140501985		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501985G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.405G>A	5.37:g.140501985G>A							p.R135R	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	405	+			135					Q4V761	Silent	SNP	ENST00000194152.1	37	c.405G>A	CCDS4246.1																																																																																				0.408	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		32	53	0	0	0	1	0	32	53				
CEACAM6	4680	broad.mit.edu	37	19	42260761	42260761	+	Silent	SNP	C	C	T	rs368526368		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42260761C>T	ENST00000199764.6	+	2	536	c.318C>T	c.(316-318)tcC>tcT	p.S106S	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	106	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCAATGCATCCCTGCTGATCC	0.463																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(316-318)tcC>tcT		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)		C		1,4405	2.1+/-5.4	0,1,2202	320.0	305.0	310.0		318	0.0	0.6	19		310	0,8600		0,0,4300	no	coding-synonymous	CEACAM6	NM_002483.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		106/345	42260761	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260761C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.318C>T	19.37:g.42260761C>T						CEA_ENST00000598976.1_Intron	p.S106S	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	536	+			106			Ig-like V-type.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.318C>T	CCDS12585.1																																																																																				0.463	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			113	184	0	0	0	1	0	113	184				
CEP192	55125	broad.mit.edu	37	18	13067879	13067879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067879G>A	ENST00000325971.8	+	20	4343	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E	CEP192_ENST00000430049.2_Missense_Mutation_p.G1038E|CEP192_ENST00000506447.1_Missense_Mutation_p.G1513E			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	917					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGACTTATGGAGGCTGGAAA	0.343																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4537-4539)gGa>gAa		centrosomal protein 192kDa							77.0	76.0	76.0					18																	13067879		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13067879G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2750G>A	18.37:g.13067879G>A	ENSP00000317156:p.Gly917Glu					CEP192_ENST00000325971.8_Missense_Mutation_p.G917E|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038E	p.G1513E	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			22	4618	+			1108					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4538G>A		.	.	.	.	.	.	.	.	.	.	G	19.93	3.918978	0.73098	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.37	3.57	0.40892	.	0.060521	0.64402	D	0.000003	T	0.81250	0.4783	L	0.55743	1.74	0.58432	D	0.999996	P;D	0.53745	0.736;0.962	B;P	0.51833	0.275;0.681	T	0.80254	-0.1459	10	0.52906	T	0.07	-17.886	10.9923	0.47557	0.0701:0.1302:0.7997:0.0	.	1038;1513	C9JT09;E9PF99	.;.	E	1513;917;917;1038	ENSP00000427550:G1513E;ENSP00000317156:G917E;ENSP00000389190:G1038E	ENSP00000317156:G917E	G	+	2	0	CEP192	13057879	1.000000	0.71417	0.781000	0.31783	0.772000	0.43724	4.952000	0.63618	0.737000	0.32582	0.655000	0.94253	GGA		0.343	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	40	0	0	0	1	0	36	40				
KIAA2022	340533	broad.mit.edu	37	X	73964195	73964195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:73964195G>A	ENST00000055682.6	-	3	808	c.197C>T	c.(196-198)cCt>cTt	p.P66L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	66					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGGTAGAGGCAGGAGACC	0.532																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(196-198)cCt>cTt		KIAA2022							66.0	63.0	64.0					X																	73964195		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964195G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.197C>T	X.37:g.73964195G>A	ENSP00000055682:p.Pro66Leu					KIAA2022_ENST00000055682.5_Missense_Mutation_p.P66L	p.P66L			Q5QGS0	K2022_HUMAN			3	848	-			66					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.197C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366901	0.82463	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.33865	1.39;1.39	4.87	4.87	0.63330	.	0.283710	0.40064	N	0.001200	T	0.53126	0.1777	L	0.44542	1.39	0.58432	D	0.999999	D	0.76494	0.999	D	0.74023	0.982	T	0.56938	-0.7896	10	0.87932	D	0	-9.2811	17.2291	0.86979	0.0:0.0:1.0:0.0	.	66	Q5QGS0	K2022_HUMAN	L	66	ENSP00000362567:P66L;ENSP00000055682:P66L	ENSP00000055682:P66L	P	-	2	0	KIAA2022	73880920	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.127000	0.89593	2.249000	0.74217	0.544000	0.68410	CCT		0.532	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		27	42	0	0	0	1	0	27	42				
VWF	7450	broad.mit.edu	37	12	6167113	6167113	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167113G>A	ENST00000261405.5	-	14	1885	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCCACCCGGGGCTCCGCCAG	0.657																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1630-1632)cCc>cTc		von Willebrand factor	Antihemophilic Factor(DB00025)						55.0	59.0	58.0					12																	6167113		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167113G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1631C>T	12.37:g.6167113G>A	ENSP00000261405:p.Pro544Leu						p.P544L	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			14	1885	-			544			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1631C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029245	0.35797	.	.	ENSG00000110799	ENST00000261405	T	0.35973	1.28	4.94	4.94	0.65067	von Willebrand factor, type D domain (1);	0.387634	0.18949	N	0.126732	T	0.57710	0.2072	M	0.69823	2.125	0.80722	D	1	B;D	0.76494	0.001;0.999	B;D	0.78314	0.001;0.991	T	0.57365	-0.7824	10	0.52906	T	0.07	.	12.7919	0.57539	0.0812:0.0:0.9188:0.0	.	544;544	B4DNX0;P04275	.;VWF_HUMAN	L	544	ENSP00000261405:P544L	ENSP00000261405:P544L	P	-	2	0	VWF	6037374	0.997000	0.39634	0.998000	0.56505	0.161000	0.22273	5.213000	0.65230	2.567000	0.86603	0.491000	0.48974	CCC		0.657	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		23	67	0	0	0	1	0	23	67				
RAI1	10743	broad.mit.edu	37	17	17696587	17696587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17696587C>T	ENST00000353383.1	+	3	794	c.325C>T	c.(325-327)Cca>Tca	p.P109S	RAI1_ENST00000261641.6_Missense_Mutation_p.P109S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	109					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCCCCTACCCAGGCCGCTA	0.677																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(325-327)Cca>Tca		retinoic acid induced 1							12.0	13.0	13.0					17																	17696587		2181	4244	6425	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17696587C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.325C>T	17.37:g.17696587C>T	ENSP00000323074:p.Pro109Ser					RAI1_ENST00000261641.6_Missense_Mutation_p.P109S	p.P109S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	794	+			109					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.325C>T	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	9.391	1.075518	0.20227	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.66638	-0.22;2.52;0.39	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000003	T	0.75759	0.3893	M	0.62723	1.935	0.36998	D	0.895118	D	0.69078	0.997	P	0.60789	0.879	T	0.76091	-0.3086	10	0.19590	T	0.45	.	16.9106	0.86139	0.0:1.0:0.0:0.0	.	109	Q7Z5J4	RAI1_HUMAN	S	109	ENSP00000323074:P109S;ENSP00000379120:P109S;ENSP00000261641:P109S	ENSP00000261641:P109S	P	+	1	0	RAI1	17637312	1.000000	0.71417	0.942000	0.38095	0.146000	0.21551	2.023000	0.41040	2.074000	0.62210	0.462000	0.41574	CCA		0.677	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		15	16	0	0	0	1	0	15	16				
SCARF2	91179	broad.mit.edu	37	22	20784021	20784021	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20784021G>A	ENST00000266214.5	-	7	1406	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	SCARF2_ENST00000405555.3_Silent_p.H434H	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	434					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ACTTACCTAGGTGGCAGGCAC	0.652																																						ENST00000405555.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10						c.(1300-1302)caC>caT		scavenger receptor class F, member 2							75.0	76.0	76.0					22																	20784021		2203	4300	6503	SO:0001819	synonymous_variant	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20784021G>A	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1302C>T	22.37:g.20784021G>A						SCARF2_ENST00000266214.5_Silent_p.H434H	p.H434H	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1372	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	434					E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	ENST00000266214.5	37	c.1302C>T	CCDS13779.1																																																																																				0.652	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			49	66	0	0	0	1	0	49	66				
CAPN11	11131	broad.mit.edu	37	6	44141076	44141076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44141076C>T	ENST00000398776.1	+	7	822	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	CAPN11_ENST00000542245.1_Missense_Mutation_p.L262F	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	262	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTCAGGCTCCTTAGGAAGGC	0.592																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(784-786)Ctt>Ttt		calpain 11							32.0	35.0	34.0					6																	44141076		1946	4125	6071	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44141076C>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.784C>T	6.37:g.44141076C>T	ENSP00000381758:p.Leu262Phe					CAPN11_ENST00000398776.1_Missense_Mutation_p.L262F	p.L262F			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	822	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		262			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.784C>T	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693395	0.30052	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.89270	-2.49;-2.49	4.25	0.245	0.15512	Peptidase C2, calpain, catalytic domain (3);	0.518270	0.16395	N	0.216309	T	0.79787	0.4506	M	0.86028	2.79	0.20703	N	0.999863	B	0.21688	0.059	B	0.21917	0.037	T	0.74414	-0.3673	10	0.87932	D	0	.	5.1042	0.14775	0.55:0.2735:0.0:0.1765	.	262	Q9UMQ6	CAN11_HUMAN	F	262	ENSP00000381758:L262F;ENSP00000441078:L262F	ENSP00000381758:L262F	L	+	1	0	CAPN11	44249054	0.346000	0.24844	0.000000	0.03702	0.760000	0.43138	0.833000	0.27504	0.026000	0.15269	0.650000	0.86243	CTT		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			6	28	0	0	0	1	0	6	28				
ATP2A2	488	broad.mit.edu	37	12	110783812	110783812	+	Silent	SNP	C	C	T	rs144955024	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783812C>T	ENST00000539276.2	+	19	2857	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	ATP2A2_ENST00000395494.2_Silent_p.S889S|ATP2A2_ENST00000308664.6_Silent_p.S916S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCAGCTTGTCCGAAAACCAGT	0.572													C|||	9	0.00179712	0.0068	0.0	5008	,	,		21506	0.0		0.0	False		,,,				2504	0.0					ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2665-2667)tcC>tcT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2		C	,	5,4401	11.4+/-27.6	0,5,2198	181.0	137.0	152.0		2748,2748	-6.6	1.0	12	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP2A2	NM_001681.3,NM_170665.3	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	916/998,916/1043	110783812	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783812C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2748C>T	12.37:g.110783812C>T						ATP2A2_ENST00000539276.2_Silent_p.S916S|ATP2A2_ENST00000308664.6_Silent_p.S916S	p.S889S			P16615	AT2A2_HUMAN			18	3230	+			916					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.2667C>T	CCDS9144.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	5.126	0.208894	0.09757	0.001135	0.0	ENSG00000174437	ENST00000548169	.	.	.	6.17	-6.55	0.01854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.7061	0.02882	0.3682:0.27:0.0798:0.282	.	.	.	.	X	807	.	.	R	+	1	2	ATP2A2	109268195	0.010000	0.17322	0.978000	0.43139	0.953000	0.61014	-1.071000	0.03437	-0.605000	0.05753	-0.302000	0.09304	CGA		0.572	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		30	84	0	0	0	1	0	30	84				
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	C	T	rs564472730	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20576154C>T	ENST00000329697.6	-	2	182	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R5Q(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498													C|||	3	0.000599042	0.0	0.0014	5008	,	,		18567	0.0		0.001	False		,,,				2504	0.001					ENST00000329697.6																			1	Substitution - Missense(1)	p.R5Q(1)	lung(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(13-15)cGa>cAa		acyl-CoA synthetase medium-chain family member 2B							62.0	61.0	61.0					16																	20576154		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20576154C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.14G>A	16.37:g.20576154C>T	ENSP00000327453:p.Arg5Gln					ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q	p.R5Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			2	182	-			5					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.14G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	8.229	0.804295	0.16467	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.42900	0.96;2.28	3.27	-0.763	0.11030	.	2.661960	0.01665	N	0.025335	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	P;P	0.41784	0.762;0.762	B;B	0.32149	0.141;0.141	T	0.13629	-1.0502	10	0.24483	T	0.36	1.0797	5.481	0.16723	0.2292:0.3839:0.3869:0.0	.	5;5	A8K051;Q68CK6	.;ACS2B_HUMAN	Q	5	ENSP00000327453:R5Q;ENSP00000390378:R5Q	ENSP00000327453:R5Q	R	-	2	0	ACSM2B	20483655	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-1.772000	0.01787	0.081000	0.16988	0.505000	0.49811	CGA		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		18	32	0	0	0	1	0	18	32				
MPEG1	219972	broad.mit.edu	37	11	58979269	58979269	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:58979269T>C	ENST00000361050.3	-	1	1155	c.1070A>G	c.(1069-1071)aAc>aGc	p.N357S	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	357						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AAAATTGAAGTTGGGAGAATT	0.502																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1069-1071)aAc>aGc		macrophage expressed 1							95.0	92.0	93.0					11																	58979269		1922	4130	6052	SO:0001583	missense	219972					integral to membrane		g.chr11:58979269T>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1070A>G	11.37:g.58979269T>C	ENSP00000354335:p.Asn357Ser						p.N357S	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1155	-		all_epithelial(135;0.125)	357					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1070A>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798026	0.50208	.	.	ENSG00000197629	ENST00000361050	T	0.26518	1.73	5.73	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.79475	2.455	0.43368	D	0.995458	D	0.69078	0.997	P	0.55455	0.776	T	0.40905	-0.9538	10	0.66056	D	0.02	-14.0407	10.0212	0.42044	0.1507:0.0:0.0:0.8493	.	357	Q2M385	MPEG1_HUMAN	S	357	ENSP00000354335:N357S	ENSP00000354335:N357S	N	-	2	0	MPEG1	58735845	1.000000	0.71417	0.998000	0.56505	0.629000	0.37895	7.234000	0.78134	0.988000	0.38734	-0.333000	0.08304	AAC		0.502	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		34	64	0	0	0	1	0	34	64				
PRR12	57479	broad.mit.edu	37	19	50099935	50099935	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099935C>T	ENST00000418929.2	+	4	2355	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCATGGCCTCCTTCTGGAGG	0.711																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2341-2343)ctC>ctT		proline rich 12							11.0	14.0	13.0					19																	50099935		1821	3952	5773	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50099935C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2343C>T	19.37:g.50099935C>T							p.L781L	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2355	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	476					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.2343C>T	CCDS46143.1																																																																																				0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		12	24	0	0	0	1	0	12	24				
SLC9A5	6553	broad.mit.edu	37	16	67290916	67290916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67290916C>T	ENST00000299798.11	+	7	1300	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	412					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGGGCTGTGGCCTTTGCTCTC	0.552																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1234-1236)gCc>gTc		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							88.0	91.0	90.0					16																	67290916		2010	4190	6200	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290916C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1235C>T	16.37:g.67290916C>T	ENSP00000299798:p.Ala412Val						p.A412V	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1300	+		Ovarian(137;0.0563)	412					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1235C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857389	0.91433	.	.	ENSG00000135740	ENST00000299798	T	0.17213	2.29	5.63	5.63	0.86233	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60224	-0.7305	10	0.87932	D	0	.	19.032	0.92961	0.0:1.0:0.0:0.0	.	412	Q14940	SL9A5_HUMAN	V	412	ENSP00000299798:A412V	ENSP00000299798:A412V	A	+	2	0	SLC9A5	65848417	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.814000	0.96858	0.655000	0.94253	GCC		0.552	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			61	89	0	0	0	1	0	61	89				
OTOF	9381	broad.mit.edu	37	2	26707344	26707344	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26707344C>T	ENST00000272371.2	-	12	1329	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	OTOF_ENST00000403946.3_Silent_p.E401E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	401					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTCACCCCTCAATGTCAT	0.632																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1201-1203)gaG>gaA		otoferlin							139.0	112.0	121.0					2																	26707344		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26707344C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1203G>A	2.37:g.26707344C>T						OTOF_ENST00000403946.3_Silent_p.E401E	p.E401E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			12	1329	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		401					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1203G>A	CCDS1725.1																																																																																				0.632	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			12	16	0	0	0	1	0	12	16				
CD200R1L	344807	broad.mit.edu	37	3	112564562	112564562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112564562G>A	ENST00000398214.1	-	1	235	c.10C>T	c.(10-12)Cca>Tca	p.P4S	CD200R1L_ENST00000448932.1_5'UTR|CD200R1L_ENST00000488794.1_5'UTR	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	4						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AGTAATCTTGGAGCTGACATC	0.343																																						ENST00000398214.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(10-12)Cca>Tca		CD200 receptor 1-like							174.0	159.0	164.0					3																	112564562		1843	4109	5952	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112564562G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.10C>T	3.37:g.112564562G>A	ENSP00000381272:p.Pro4Ser					CD200R1L_ENST00000488794.1_5'UTR|CD200R1L_ENST00000448932.1_5'UTR	p.P4S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN			1	235	-			4					Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.10C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	4.422	0.078015	0.08485	.	.	ENSG00000206531	ENST00000398214	T	0.20881	2.04	3.44	-4.27	0.03744	.	1.621950	0.04547	N	0.389150	T	0.10551	0.0258	N	0.20986	0.625	0.20074	N	0.999935	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	10	0.08599	T	0.76	.	4.5619	0.12165	0.3301:0.3411:0.3288:0.0	.	4	Q6Q8B3	MO2R2_HUMAN	S	4	ENSP00000381272:P4S	ENSP00000381272:P4S	P	-	1	0	CD200R1L	114047252	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.784000	0.04633	-0.830000	0.04262	-0.415000	0.06103	CCA		0.343	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		28	64	0	0	0	1	0	28	64				
IGSF5	150084	broad.mit.edu	37	21	41165472	41165472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:41165472C>T	ENST00000380588.4	+	8	1163	c.1060C>T	c.(1060-1062)Ctc>Ttc	p.L354F		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(1060-1062)Ctc>Ttc		immunoglobulin superfamily, member 5							136.0	139.0	138.0					21																	41165472		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41165472C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.1060C>T	21.37:g.41165472C>T	ENSP00000369962:p.Leu354Phe						p.L354F	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			8	1163	+		Prostate(19;5.35e-06)	354						Missense_Mutation	SNP	ENST00000380588.4	37	c.1060C>T	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	7.563	0.665182	0.14710	.	.	ENSG00000183067	ENST00000380588	T	0.12879	2.64	4.15	-3.28	0.05033	.	2.147640	0.01958	N	0.043151	T	0.08313	0.0207	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24225	-1.0166	10	0.36615	T	0.2	0.0079	1.6216	0.02714	0.1432:0.2736:0.1402:0.4431	.	354	Q9NSI5	IGSF5_HUMAN	F	354	ENSP00000369962:L354F	ENSP00000369962:L354F	L	+	1	0	IGSF5	40087342	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.840000	0.04363	-0.779000	0.04560	-0.216000	0.12614	CTC		0.423	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			54	28	0	0	0	1	0	54	28				
SIGLEC5	8778	broad.mit.edu	37	19	52129352	52129352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52129352C>T	ENST00000534261.2	-	9	1796	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R466K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R466K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R466K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	466					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCTTGCTTCCTGCGGGCTTT	0.527																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1396-1398)aGg>aAg		sialic acid binding Ig-like lectin 5							120.0	109.0	113.0					19																	52129352		2203	4300	6503	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52129352C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1397G>A	19.37:g.52129352C>T	ENSP00000473238:p.Arg466Lys					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R466K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R466K	p.R466K			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	8	1535	-		all_neural(266;0.0726)	466						Missense_Mutation	SNP	ENST00000534261.2	37	c.1397G>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245485	0.59103	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.58797	0.31;0.31	3.12	3.12	0.35913	.	1.908780	0.03201	N	0.174826	T	0.65668	0.2713	M	0.67953	2.075	0.09310	N	1	D	0.56521	0.976	P	0.50049	0.629	T	0.52124	-0.8617	10	0.29301	T	0.29	.	9.9975	0.41909	0.0:1.0:0.0:0.0	.	466	O15389	SIGL5_HUMAN	K	466	ENSP00000222107:R466K;ENSP00000415200:R466K	ENSP00000222107:R466K	R	-	2	0	SIGLEC5	56821164	0.001000	0.12720	0.068000	0.19968	0.069000	0.16628	0.689000	0.25437	2.050000	0.60909	0.650000	0.86243	AGG		0.527	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		19	39	0	0	0	1	0	19	39				
TRBV7-7	28591	broad.mit.edu	37	7	142119873	142119873	+	RNA	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142119873A>G	ENST00000390377.1	-	0	293									T cell receptor beta variable 7-7																		CTGTGCGCTGAATCGTCAGAG	0.537																																						ENST00000390377.1																			0																				84.0	82.0	83.0					7																	142119873		2042	4196	6238			28591							g.chr7:142119873A>G	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142119873A>G														0	293	-									RNA	SNP	ENST00000390377.1	37																																																																																						0.537	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		44	63	0	0	0	1	0	44	63				
POLR3D	661	broad.mit.edu	37	8	22106602	22106602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22106602C>T	ENST00000397802.4	+	6	916	c.701C>T	c.(700-702)gCt>gTt	p.A234V	POLR3D_ENST00000306433.4_Missense_Mutation_p.A234V			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	234					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGATGAAGGCTCCTCCCAAA	0.567																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(700-702)gCt>gTt		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							53.0	53.0	53.0					8																	22106602		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106602C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.701C>T	8.37:g.22106602C>T	ENSP00000380904:p.Ala234Val					POLR3D_ENST00000306433.4_Missense_Mutation_p.A234V	p.A234V			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	916	+			234					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.701C>T	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929393	0.52759	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.66	4.79	0.61399	.	0.281433	0.39210	N	0.001437	T	0.34279	0.0892	N	0.24115	0.695	0.30645	N	0.756031	B	0.09022	0.002	B	0.06405	0.002	T	0.25293	-1.0136	9	0.32370	T	0.25	-3.2084	13.7068	0.62644	0.0:0.9245:0.0:0.0755	.	234	P05423	RPC4_HUMAN	V	234	.	ENSP00000303088:A234V	A	+	2	0	POLR3D	22162547	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.498000	0.06420	1.390000	0.46547	0.563000	0.77884	GCT		0.567	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		33	23	0	0	0	1	0	33	23				
KCNC1	3746	broad.mit.edu	37	11	17793577	17793577	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17793577C>T	ENST00000379472.3	+	2	966	c.936C>T	c.(934-936)gtC>gtT	p.V312V	KCNC1_ENST00000265969.6_Silent_p.V312V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	312					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TCCTGCGCGTCGTCCGCTTCG	0.632																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(934-936)gtC>gtT		potassium voltage-gated channel, Shaw-related subfamily, member 1							77.0	69.0	72.0					11																	17793577		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793577C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.936C>T	11.37:g.17793577C>T						KCNC1_ENST00000265969.6_Silent_p.V312V	p.V312V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	966	+			312					K4DI87	Silent	SNP	ENST00000379472.3	37	c.936C>T	CCDS7827.1																																																																																				0.632	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		16	30	0	0	0	1	0	16	30				
MAP1B	4131	broad.mit.edu	37	5	71491536	71491536	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71491536T>A	ENST00000296755.7	+	5	2652	c.2354T>A	c.(2353-2355)aTt>aAt	p.I785N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	785	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATAAAAGTCATTAAGAAGGAA	0.522																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2353-2355)aTt>aAt		microtubule-associated protein 1B							56.0	61.0	59.0					5																	71491536		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491536T>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2354T>A	5.37:g.71491536T>A	ENSP00000296755:p.Ile785Asn						p.I785N	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2652	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	785			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2354T>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.408208	0.25378	.	.	ENSG00000131711	ENST00000296755	T	0.03181	4.02	5.63	3.27	0.37495	.	0.866038	0.10019	N	0.726168	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	1	B;B	0.23735	0.09;0.026	B;B	0.20384	0.029;0.029	T	0.49735	-0.8908	10	0.17832	T	0.49	-0.268	10.1632	0.42864	0.0:0.118:0.0:0.882	.	659;785	A2BDK6;P46821	.;MAP1B_HUMAN	N	785	ENSP00000296755:I785N	ENSP00000296755:I785N	I	+	2	0	MAP1B	71527292	0.004000	0.15560	0.005000	0.12908	0.962000	0.63368	1.322000	0.33689	0.432000	0.26286	0.533000	0.62120	ATT		0.522	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		33	65	0	0	0	1	0	33	65				
LHFPL3	375612	broad.mit.edu	37	7	104377192	104377192	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377192T>A	ENST00000401970.2	+	2	596	c.474T>A	c.(472-474)tgT>tgA	p.C158*	LHFPL3_ENST00000535008.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.C158*|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	172						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						AACGGATGTGTGGAGAAAAGA	0.463																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(514-516)tgT>tgA		lipoma HMGIC fusion partner-like 3							84.0	82.0	83.0					7																	104377192		1941	4162	6103	SO:0001587	stop_gained	375612					integral to membrane		g.chr7:104377192T>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.474T>A	7.37:g.104377192T>A	ENSP00000385374:p.Cys158*					LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.C158*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.C158*	p.C172*			Q86UP9	LHPL3_HUMAN			4	640	+			158					A1L383|A4D0Q5	Nonsense_Mutation	SNP	ENST00000401970.2	37	c.516T>A		.	.	.	.	.	.	.	.	.	.	T	35	5.459541	0.96240	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	.	.	.	5.65	-1.09	0.09904	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.152	11.3174	0.49401	0.0:0.4912:0.0:0.5088	.	.	.	.	X	158;172;158;172	.	ENSP00000385374:C158X	C	+	3	2	LHFPL3	104164428	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.455000	0.21843	-0.042000	0.13535	0.528000	0.53228	TGT		0.463	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		10	21	0	0	0	1	0	10	21				
TMCC2	9911	broad.mit.edu	37	1	205238548	205238548	+	Silent	SNP	C	C	T	rs138392378	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205238548C>T	ENST00000358024.3	+	3	1607	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	TMCC2_ENST00000545499.1_Silent_p.V328V|TMCC2_ENST00000330675.7_Silent_p.V181V|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Silent_p.V166V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	406						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGAGGGCGTCAAGGGCAGCC	0.677																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1216-1218)gtC>gtT		transmembrane and coiled-coil domain family 2							33.0	36.0	35.0					1																	205238548		2202	4299	6501	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205238548C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1218C>T	1.37:g.205238548C>T						TMCC2_ENST00000329800.7_Silent_p.V166V|TMCC2_ENST00000545499.1_Silent_p.V328V|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.V181V	p.V406V	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	1607	+	Breast(84;0.0871)		406					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1218C>T	CCDS30984.1																																																																																				0.677	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		26	37	0	0	0	1	0	26	37				
RASAL1	8437	broad.mit.edu	37	12	113553841	113553841	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553841G>A	ENST00000261729.5	-	10	1062	c.747C>T	c.(745-747)gcC>gcT	p.A249A	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000546530.1_Silent_p.A249A|RASAL1_ENST00000446861.3_Silent_p.A249A			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCACTCGCAGGGCACCCAGGT	0.582																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(745-747)gcC>gcT		RAS protein activator like 1 (GAP1 like)							67.0	64.0	65.0					12																	113553841		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553841G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.747C>T	12.37:g.113553841G>A						RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A	p.A249A	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			10	1032	-			249					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.747C>T	CCDS9165.1																																																																																				0.582	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		48	18	0	0	0	1	0	48	18				
ZNF839	55778	broad.mit.edu	37	14	102792613	102792613	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:102792613C>T	ENST00000558850.1	+	2	582	c.232C>T	c.(232-234)Cca>Tca	p.P78S	ZNF839_ENST00000262236.5_Missense_Mutation_p.P78S|ZNF839_ENST00000559185.1_Missense_Mutation_p.P78S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P194S	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	78							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAAGAGAGTCCCAGCCCCCAA	0.567																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(232-234)Cca>Tca		zinc finger protein 839							32.0	32.0	32.0					14																	102792613		1895	4121	6016	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102792613C>T	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.232C>T	14.37:g.102792613C>T	ENSP00000453363:p.Pro78Ser					ZNF839_ENST00000559185.1_Missense_Mutation_p.P78S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P78S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P194S	p.P78S	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			2	587	+			78					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.232C>T	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465671	0.26335	.	.	ENSG00000022976	ENST00000442396;ENST00000262236	T;T	0.57752	0.38;0.38	4.83	-9.66	0.00534	.	.	.	.	.	T	0.25005	0.0607	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25955	0.138;0.021;0.021	B;B;B	0.18561	0.022;0.005;0.009	T	0.23511	-1.0186	9	0.49607	T	0.09	.	4.2918	0.10881	0.1252:0.4668:0.258:0.1501	.	194;78;78	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	S	194;78	ENSP00000399863:P194S;ENSP00000262236:P78S	ENSP00000262236:P78S	P	+	1	0	ZNF839	101862366	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.088000	0.03379	-3.316000	0.00189	-0.996000	0.02517	CCA		0.567	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		8	18	0	0	0	1	0	8	18				
ZNF253	56242	broad.mit.edu	37	19	20002338	20002338	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002338C>T	ENST00000589717.1	+	4	374	c.282C>T	c.(280-282)ttC>ttT	p.F94F	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Silent_p.F18F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	94					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAATTCTTTCCAAATAGGGA	0.368																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(280-282)ttC>ttT		zinc finger protein 253							40.0	40.0	40.0					19																	20002338		2085	4243	6328	SO:0001819	synonymous_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002338C>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.282C>T	19.37:g.20002338C>T						ZNF253_ENST00000355650.4_Silent_p.F18F	p.F94F	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	374	+			94					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	c.282C>T	CCDS42532.1																																																																																				0.368	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		10	23	0	0	0	1	0	10	23				
KDM5A	5927	broad.mit.edu	37	12	438016	438016	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:438016C>T	ENST00000399788.2	-	14	2315	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	KDM5A_ENST00000382815.4_Silent_p.E651E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	651					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTACAACAGACTCTCTTAATC	0.408			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1951-1953)gaG>gaA		lysine (K)-specific demethylase 5A							91.0	88.0	89.0					12																	438016		1946	4151	6097	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:438016C>T		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1953G>A	12.37:g.438016C>T						KDM5A_ENST00000382815.4_Silent_p.E651E	p.E651E	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			14	2315	-			651					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.1953G>A	CCDS41736.1																																																																																				0.408	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		13	25	0	0	0	1	0	13	25				
TJP2	9414	broad.mit.edu	37	9	71869364	71869364	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:71869364G>A	ENST00000377245.4	+	0	3855				TJP2_ENST00000453658.2_3'UTR|AL358113.1_ENST00000600472.1_Silent_p.T93T|TJP2_ENST00000539225.1_3'UTR|TJP2_ENST00000535702.1_3'UTR|TJP2_ENST00000348208.4_3'UTR	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2						apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCGCCGGGATGGTTCTTCTCC	0.577																																						ENST00000600472.1																			0											c.(277-279)acC>acT																																						SO:0001624	3_prime_UTR_variant	9414							g.chr9:71869364G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.*74G>A	9.37:g.71869364G>A						TJP2_ENST00000539225.1_3'UTR|TJP2_ENST00000348208.4_3'UTR|TJP2_ENST00000535702.1_3'UTR|TJP2_ENST00000377245.4_3'UTR|TJP2_ENST00000453658.2_3'UTR	p.T93T							1	278	-								A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Silent	SNP	ENST00000377245.4	37	c.279C>T	CCDS6627.1																																																																																				0.577	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		9	1	0	0	0	1	0	9	1				
DGKQ	1609	broad.mit.edu	37	4	954459	954459	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954459G>A	ENST00000273814.3	-	23	2851	c.2778C>T	c.(2776-2778)acC>acT	p.T926T	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					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)			GGGCATCCCTGGTGGTCCCGG	0.677																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2776-2778)acC>acT		diacylglycerol kinase, theta 110kDa							44.0	50.0	48.0					4																	954459		2202	4299	6501	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.chr4:954459G>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.2778C>T	4.37:g.954459G>A							p.T926T	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		23	2851	-			926					Q6P3W4	Silent	SNP	ENST00000273814.3	37	c.2778C>T	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	G	6.072	0.381677	0.11524	.	.	ENSG00000145214	ENST00000509465	.	.	.	4.02	1.96	0.26148	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.30151	N	0.803069	.	.	.	.	.	.	T	0.25433	-1.0132	4	.	.	.	.	1.849	0.03165	0.1282:0.1922:0.4825:0.1971	.	.	.	.	L	860	.	.	P	-	2	0	DGKQ	944459	0.000000	0.05858	0.316000	0.25252	0.085000	0.17905	-0.080000	0.11339	0.935000	0.37341	-0.367000	0.07326	CCA		0.677	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			20	25	0	0	0	1	0	20	25				
IGF1	3479	broad.mit.edu	37	12	102811603	102811603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102811603C>T	ENST00000307046.8	-	4	762	c.581G>A	c.(580-582)gGa>gAa	p.G194E	IGF1_ENST00000481539.1_5'Flank|IGF1_ENST00000392904.1_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	194					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CCTTCATTTTCCTTTTTTGCC	0.438																																						ENST00000307046.8																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						c.(580-582)gGa>gAa		insulin-like growth factor 1 (somatomedin C)							342.0	315.0	324.0					12																	102811603		1568	3582	5150	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102811603C>T	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.581G>A	12.37:g.102811603C>T	ENSP00000302665:p.Gly194Glu					IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Intron	p.G194E	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN			4	762	-			194					B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.581G>A	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647418	0.29246	.	.	ENSG00000017427	ENST00000307046	D	0.93763	-3.28	5.16	2.22	0.28083	.	.	.	.	.	T	0.81049	0.4742	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.68808	-0.5311	9	0.02654	T	1	-27.615	8.6828	0.34218	0.0:0.6652:0.0:0.3348	.	194	P05019	IGF1_HUMAN	E	194	ENSP00000302665:G194E	ENSP00000302665:G194E	G	-	2	0	IGF1	101335733	0.670000	0.27512	0.308000	0.25141	0.176000	0.22953	0.700000	0.25601	0.151000	0.19162	-0.982000	0.02568	GGA		0.438	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618		215	67	0	0	0	1	0	215	67				
DISP1	84976	broad.mit.edu	37	1	223179117	223179117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179117C>T	ENST00000284476.6	+	8	4542	c.4378C>T	c.(4378-4380)Cca>Tca	p.P1460S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCAGAATGAACCAAAAGTCCT	0.443																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4378-4380)Cca>Tca		dispatched homolog 1 (Drosophila)							86.0	83.0	84.0					1																	223179117		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223179117C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4378C>T	1.37:g.223179117C>T	ENSP00000284476:p.Pro1460Ser						p.P1460S	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4542	+			1460					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4378C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344108	0.24339	.	.	ENSG00000154309	ENST00000284476	D	0.91577	-2.87	5.52	4.59	0.56863	.	0.494085	0.21938	N	0.066935	T	0.81889	0.4918	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.67806	-0.5575	10	0.26408	T	0.33	-6.9272	9.6572	0.39932	0.1715:0.7526:0.0:0.0759	.	1460	Q96F81	DISP1_HUMAN	S	1460	ENSP00000284476:P1460S	ENSP00000284476:P1460S	P	+	1	0	DISP1	221245740	0.137000	0.22531	0.208000	0.23602	0.028000	0.11728	0.749000	0.26320	1.292000	0.44672	0.655000	0.94253	CCA		0.443	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		32	16	0	0	0	1	0	32	16				
FBN3	84467	broad.mit.edu	37	19	8188845	8188845	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:8188845C>T	ENST00000600128.1	-	23	3193	c.2779G>A	c.(2779-2781)Ggg>Agg	p.G927R	FBN3_ENST00000270509.2_Missense_Mutation_p.G927R|FBN3_ENST00000601739.1_Missense_Mutation_p.G927R			Q75N90	FBN3_HUMAN	fibrillin 3	927	TB 5.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGGTGACCCCACACTCATCC	0.637																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2779-2781)Ggg>Agg		fibrillin 3							118.0	72.0	88.0					19																	8188845		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8188845C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2779G>A	19.37:g.8188845C>T	ENSP00000470498:p.Gly927Arg					FBN3_ENST00000270509.2_Missense_Mutation_p.G927R|FBN3_ENST00000601739.1_Missense_Mutation_p.G927R	p.G927R			Q75N90	FBN3_HUMAN			23	3193	-			927			TB 5.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2779G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	10.55	1.381310	0.24944	.	.	ENSG00000142449	ENST00000270509	D	0.92545	-3.06	3.44	2.29	0.28610	Matrix fibril-associated (3);TGF-beta binding (1);	0.632827	0.15789	U	0.244551	D	0.88183	0.6368	L	0.55481	1.735	0.28700	N	0.904107	P	0.44946	0.846	P	0.46629	0.522	T	0.79393	-0.1822	10	0.18276	T	0.48	.	3.1927	0.06623	0.2261:0.5393:0.0:0.2346	.	927	Q75N90	FBN3_HUMAN	R	927	ENSP00000270509:G927R	ENSP00000270509:G927R	G	-	1	0	FBN3	8094845	0.008000	0.16893	0.801000	0.32222	0.389000	0.30415	1.199000	0.32235	1.651000	0.50673	0.436000	0.28706	GGG		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		16	9	0	0	0	1	0	16	9				
NWD1	284434	broad.mit.edu	37	19	16890267	16890267	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:16890267G>A	ENST00000552788.1	+	10	2722	c.2722G>A	c.(2722-2724)Gga>Aga	p.G908R	NWD1_ENST00000549814.1_Missense_Mutation_p.G908R|NWD1_ENST00000523826.1_Missense_Mutation_p.G702R|NWD1_ENST00000524140.2_Missense_Mutation_p.G908R|NWD1_ENST00000339803.6_Missense_Mutation_p.G773R|NWD1_ENST00000379808.3_Missense_Mutation_p.G908R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	908							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGCTAACTGGACACACAGG	0.527											OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2722-2724)Gga>Aga		NACHT and WD repeat domain containing 1							178.0	143.0	155.0					19																	16890267		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16890267G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2722G>A	19.37:g.16890267G>A	ENSP00000447224:p.Gly908Arg		OREG0025337	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713	NWD1_ENST00000552788.1_Missense_Mutation_p.G908R|NWD1_ENST00000549814.1_Missense_Mutation_p.G908R|NWD1_ENST00000523826.1_Missense_Mutation_p.G702R|NWD1_ENST00000379808.3_Missense_Mutation_p.G908R|NWD1_ENST00000339803.6_Missense_Mutation_p.G773R	p.G908R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			12	3140	+			908					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2722G>A		.	.	.	.	.	.	.	.	.	.	-	11.98	1.800016	0.31869	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.08	4.02	0.46733	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.284954	0.32548	N	0.005947	D	0.85035	0.5605	M	0.91717	3.235	0.22156	N	0.999325	D;D;D	0.64830	0.973;0.993;0.994	D;D;D	0.69654	0.942;0.941;0.965	T	0.77568	-0.2539	10	0.54805	T	0.06	-3.8074	10.8353	0.46683	0.0:0.0:0.8106:0.1894	.	908;908;773	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	773;908;908;908;702;908;773	ENSP00000428579:G908R;ENSP00000447548:G908R;ENSP00000369136:G908R;ENSP00000428955:G702R;ENSP00000447224:G908R;ENSP00000340159:G773R	ENSP00000340159:G773R	G	+	1	0	NWD1	16751267	1.000000	0.71417	0.493000	0.27502	0.024000	0.10985	5.531000	0.67148	1.129000	0.42072	-0.529000	0.04317	GGA		0.527	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		50	61	0	0	0	1	0	50	61				
IL7R	3575	broad.mit.edu	37	5	35876315	35876315	+	Silent	SNP	C	C	T	rs199803084		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876315C>T	ENST00000303115.3	+	8	1236	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	369					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCTCACATGCCTGGCTGGGA	0.547			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1105-1107)tgC>tgT		interleukin 7 receptor							95.0	88.0	90.0					5																	35876315		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876315C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1107C>T	5.37:g.35876315C>T						IL7R_ENST00000343305.4_3'UTR	p.C369C	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1236	+	all_lung(31;0.00015)		369					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1107C>T	CCDS3911.1																																																																																				0.547	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			16	37	0	0	0	1	0	16	37				
BBS7	55212	broad.mit.edu	37	4	122791435	122791435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:122791435G>A	ENST00000264499.4	-	1	217	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q12*|RP11-63B13.1_ENST00000567769.1_lincRNA	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	12					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGGTTTACCTGCAGATAATCC	0.597									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(34-36)Cag>Tag		Bardet-Biedl syndrome 7							58.0	58.0	58.0					4																	122791435		2203	4300	6503	SO:0001587	stop_gained	55212	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122791435G>A	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.34C>T	4.37:g.122791435G>A	ENSP00000264499:p.Gln12*					BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q12*	p.Q12*	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			1	217	-			12					Q4W5P8|Q8N581|Q9NVI4	Nonsense_Mutation	SNP	ENST00000264499.4	37	c.34C>T	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525327	0.96431	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	.	.	.	4.61	4.61	0.57282	.	0.054956	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-8.9115	17.091	0.86622	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000264499:Q12X	Q	-	1	0	BBS7	123010885	1.000000	0.71417	0.948000	0.38648	0.393000	0.30537	6.287000	0.72671	2.504000	0.84457	0.561000	0.74099	CAG		0.597	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			15	44	0	0	0	1	0	15	44				
MNDA	4332	broad.mit.edu	37	1	158815606	158815606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158815606C>T	ENST00000368141.4	+	5	1061	c.800C>T	c.(799-801)aCc>aTc	p.T267I		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	267	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGGTCATTACCATATCTGAT	0.348																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(799-801)aCc>aTc		myeloid cell nuclear differentiation antigen							79.0	82.0	81.0					1																	158815606		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815606C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.800C>T	1.37:g.158815606C>T	ENSP00000357123:p.Thr267Ile						p.T267I	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	1061	+	all_hematologic(112;0.0378)		267			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.800C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	3.469	-0.108268	0.06924	.	.	ENSG00000163563	ENST00000368141	T	0.12672	2.66	4.28	-2.8	0.05823	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.595915	0.14020	N	0.346827	T	0.01523	0.0049	L	0.28274	0.84	0.09310	N	1	P	0.43024	0.798	B	0.38921	0.285	T	0.37596	-0.9699	10	0.05525	T	0.97	-0.0072	4.4251	0.11498	0.1571:0.3602:0.0:0.4827	.	267	P41218	MNDA_HUMAN	I	267	ENSP00000357123:T267I	ENSP00000357123:T267I	T	+	2	0	MNDA	157082230	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.188000	0.03064	-0.318000	0.08665	-0.140000	0.14226	ACC		0.348	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		6	32	0	0	0	1	0	6	32				
METTL24	728464	broad.mit.edu	37	6	110567269	110567269	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:110567269C>T	ENST00000338882.4	-	5	980	c.981G>A	c.(979-981)aaG>aaA	p.K327K	CDC40_ENST00000368930.1_Intron	NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	327						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										GCCTGAAATCCTTTTGTTCTA	0.433																																						ENST00000338882.4																			0											c.(979-981)aaG>aaA		methyltransferase like 24							143.0	125.0	131.0					6																	110567269		1568	3582	5150	SO:0001819	synonymous_variant	728464					extracellular region		g.chr6:110567269C>T		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.981G>A	6.37:g.110567269C>T						CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron	p.K327K	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN			5	980	-			327					Q6ZSU5	Silent	SNP	ENST00000338882.4	37	c.981G>A	CCDS43489.1																																																																																				0.433	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		21	18	0	0	0	1	0	21	18				
ZNF160	90338	broad.mit.edu	37	19	53572108	53572108	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572108G>A	ENST00000429604.1	-	7	2094	c.1679C>T	c.(1678-1680)tCt>tTt	p.S560F	ZNF160_ENST00000599056.1_Missense_Mutation_p.S560F|ZNF160_ENST00000601421.1_Missense_Mutation_p.S524F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S560F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	560					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTCTCTCCAGAATGAATTCC	0.403																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1570-1572)tCt>tTt		zinc finger protein 160							84.0	85.0	85.0					19																	53572108		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572108G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1679C>T	19.37:g.53572108G>A	ENSP00000406201:p.Ser560Phe					ZNF160_ENST00000418871.1_Missense_Mutation_p.S560F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S560F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S560F	p.S524F			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2447	-			560					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1571C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	9.403	1.078450	0.20227	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.19806	2.12;2.12	2.22	1.06	0.20224	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32615	0.0835	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.09640	-1.0665	9	0.87932	D	0	.	4.4763	0.11745	0.1441:0.236:0.6199:0.0	.	560	Q9HCG1	ZN160_HUMAN	F	560	ENSP00000406201:S560F;ENSP00000409597:S560F	ENSP00000409597:S560F	S	-	2	0	ZNF160	58263920	0.701000	0.27806	0.139000	0.22197	0.077000	0.17291	0.791000	0.26915	0.221000	0.20879	0.561000	0.74099	TCT		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		40	70	0	0	0	1	0	40	70				
HEPACAM2	253012	broad.mit.edu	37	7	92826823	92826823	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92826823T>A	ENST00000394468.2	-	5	1190	c.1113A>T	c.(1111-1113)ctA>ctT	p.L371L	HEPACAM2_ENST00000453812.2_Silent_p.L394L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.L359L|HEPACAM2_ENST00000341723.4_Silent_p.L359L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	371					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATTTTTTCCATAGGAAGAGAA	0.308																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(1111-1113)ctA>ctT		HEPACAM family member 2							67.0	73.0	71.0					7																	92826823		2203	4289	6492	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92826823T>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.1113A>T	7.37:g.92826823T>A						HEPACAM2_ENST00000341723.4_Silent_p.L359L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.L359L|HEPACAM2_ENST00000453812.2_Silent_p.L394L	p.L371L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			5	1190	-			371					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.1113A>T	CCDS43616.1																																																																																				0.308	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		22	28	0	0	0	1	0	22	28				
COL4A1	1282	broad.mit.edu	37	13	110831733	110831733	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:110831733A>G	ENST00000375820.4	-	30	2350	c.2229T>C	c.(2227-2229)ggT>ggC	p.G743G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	743	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GACCTGGCAAACCTTTGAGTC	0.537																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2227-2229)ggT>ggC		collagen, type IV, alpha 1							66.0	69.0	68.0					13																	110831733		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110831733A>G	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2229T>C	13.37:g.110831733A>G							p.G743G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		30	2350	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	743			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.2229T>C	CCDS9511.1																																																																																				0.537	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			30	57	0	0	0	1	0	30	57				
CSMD1	64478	broad.mit.edu	37	8	3216688	3216688	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:3216688A>C	ENST00000520002.1	-	22	3848	c.3293T>G	c.(3292-3294)cTg>cGg	p.L1098R	CSMD1_ENST00000539096.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1098R|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1097R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1098	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACCTTGGCAGAGGTGCACT	0.592																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(3292-3294)cTg>cGg		CUB and Sushi multiple domains 1							69.0	72.0	71.0					8																	3216688		2203	4300	6503	SO:0001583	missense	64478					integral to membrane		g.chr8:3216688A>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3293T>G	8.37:g.3216688A>C	ENSP00000430733:p.Leu1098Arg					CSMD1_ENST00000602723.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1098R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1097R	p.L1098R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	22	3848	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1098			Sushi 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3293T>G		.	.	.	.	.	.	.	.	.	.	a	24.2	4.504376	0.85176	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000022	T	0.81688	0.4875	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.85249	0.1043	10	0.72032	D	0.01	.	15.3376	0.74269	1.0:0.0:0.0:0.0	.	1098;1098;1098	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	R	1098;1098;960;1097;1097;1097	ENSP00000383047:L1098R;ENSP00000430733:L1098R;ENSP00000441462:L1097R;ENSP00000446243:L1097R;ENSP00000441675:L1097R	ENSP00000320445:L960R	L	-	2	0	CSMD1	3204095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.088000	0.94132	2.014000	0.59158	0.449000	0.29647	CTG		0.592	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		21	52	0	0	0	1	0	21	52				
DPP10	57628	broad.mit.edu	37	2	116598334	116598334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116598334C>T	ENST00000410059.1	+	25	2671	c.2191C>T	c.(2191-2193)Cat>Tat	p.H731Y	DPP10_ENST00000310323.8_Missense_Mutation_p.H724Y|DPP10_ENST00000393147.2_Missense_Mutation_p.H735Y|DPP10_ENST00000409163.1_Missense_Mutation_p.H681Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	731						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAAAAGTTCATTTCCAACA	0.323																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(2191-2193)Cat>Tat		dipeptidyl-peptidase 10 (non-functional)							93.0	94.0	93.0					2																	116598334		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116598334C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2191C>T	2.37:g.116598334C>T	ENSP00000386565:p.His731Tyr					DPP10_ENST00000393147.2_Missense_Mutation_p.H735Y|DPP10_ENST00000310323.8_Missense_Mutation_p.H724Y|DPP10_ENST00000409163.1_Missense_Mutation_p.H681Y	p.H731Y	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			25	2671	+			731					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2191C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473928	0.84640	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.99	5.99	0.97316	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.049780	0.85682	D	0.000000	T	0.69133	0.3077	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.71130	-0.4682	10	0.87932	D	0	-16.0503	19.4659	0.94939	0.0:1.0:0.0:0.0	.	724;735;727;731	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	Y	731;681;735;724	ENSP00000386565:H731Y;ENSP00000387038:H681Y;ENSP00000376855:H735Y;ENSP00000309066:H724Y	ENSP00000309066:H724Y	H	+	1	0	DPP10	116314804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.723000	0.74742	2.840000	0.97914	0.655000	0.94253	CAT		0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		22	29	0	0	0	1	0	22	29				
TCTE1	202500	broad.mit.edu	37	6	44254208	44254208	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44254208G>A	ENST00000371505.4	-	3	461	c.339C>T	c.(337-339)tcC>tcT	p.S113S	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TCTE1_ENST00000371504.1_5'Flank	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	113										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGGTCAGGGGACAGGTGGT	0.597																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(337-339)tcC>tcT		t-complex-associated-testis-expressed 1							127.0	120.0	123.0					6																	44254208		2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44254208G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.339C>T	6.37:g.44254208G>A						TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	p.S113S	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	461	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		113					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.339C>T	CCDS4910.1																																																																																				0.597	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		56	73	0	0	0	1	0	56	73				
TBL1X	6907	broad.mit.edu	37	X	9665463	9665463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9665463C>T	ENST00000217964.7	+	12	1748	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	TBL1X_ENST00000536365.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000380961.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000407597.2_Missense_Mutation_p.H370Y|TBL1X_ENST00000424279.1_Missense_Mutation_p.H319Y	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	370					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GTTTCCTTTTCATTCAGGTGA	0.383																																						ENST00000217964.7																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20						c.(1108-1110)Cat>Tat		transducin (beta)-like 1X-linked							151.0	134.0	140.0					X																	9665463		2203	4300	6503	SO:0001583	missense	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9665463C>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1108C>T	X.37:g.9665463C>T	ENSP00000217964:p.His370Tyr					TBL1X_ENST00000536365.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000380961.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000407597.2_Missense_Mutation_p.H370Y|TBL1X_ENST00000424279.1_Missense_Mutation_p.H319Y	p.H370Y	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN			12	1748	+		Hepatocellular(5;0.000888)	370					A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	ENST00000217964.7	37	c.1108C>T	CCDS14133.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008600	0.75046	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.94722	0.8297	M	0.89785	3.06	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.61722	0.893;0.893	D	0.95790	0.8824	10	0.62326	D	0.03	.	16.0824	0.81014	0.0:1.0:0.0:0.0	.	333;370	Q59F53;O60907	.;TBL1X_HUMAN	Y	370;319;319;319;370	ENSP00000385988:H370Y;ENSP00000394097:H319Y;ENSP00000445317:H319Y;ENSP00000370348:H319Y;ENSP00000217964:H370Y	ENSP00000217964:H370Y	H	+	1	0	TBL1X	9625463	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.922000	0.75811	1.785000	0.52413	0.544000	0.68410	CAT		0.383	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		63	70	0	0	0	1	0	63	70				
ST8SIA3	51046	broad.mit.edu	37	18	55020182	55020182	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020182G>A	ENST00000324000.3	+	1	2139	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	35					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCCTGAAAAAGGAGAACATCT	0.592																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(103-105)aaG>aaA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							79.0	77.0	78.0					18																	55020182		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020182G>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.105G>A	18.37:g.55020182G>A							p.K35K	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	2139	+			35					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.105G>A	CCDS32834.1																																																																																				0.592	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		28	52	0	0	0	1	0	28	52				
PANX1	24145	broad.mit.edu	37	11	93911558	93911558	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93911558C>T	ENST00000227638.3	+	3	730	c.345C>T	c.(343-345)ctC>ctT	p.L115L	PANX1_ENST00000436171.2_Silent_p.L115L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	115					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TCCTGCTGCTCTTTGCGATCC	0.478																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(343-345)ctC>ctT		pannexin 1							184.0	136.0	152.0					11																	93911558		2201	4298	6499	SO:0001819	synonymous_variant	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93911558C>T	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.345C>T	11.37:g.93911558C>T						PANX1_ENST00000436171.2_Silent_p.L115L	p.L115L	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			3	730	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	115					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Silent	SNP	ENST00000227638.3	37	c.345C>T	CCDS8296.1																																																																																				0.478	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		30	44	0	0	0	1	0	30	44				
ATP8A1	10396	broad.mit.edu	37	4	42466780	42466780	+	Missense_Mutation	SNP	G	G	A	rs376699635		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466780G>A	ENST00000381668.5	-	27	2777	c.2546C>T	c.(2545-2547)gCc>gTc	p.A849V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A834V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAGTTCCAGGCACCATGAAT	0.328																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2545-2547)gCc>gTc		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						75.0	81.0	79.0					4																	42466780		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42466780G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2546C>T	4.37:g.42466780G>A	ENSP00000371084:p.Ala849Val					ATP8A1_ENST00000264449.10_Missense_Mutation_p.A834V	p.A849V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			27	2777	-			849					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2546C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271067	0.80469	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.88586	-2.4;-2.4	5.15	5.15	0.70609	HAD-like domain (1);	0.072919	0.53938	D	0.000043	D	0.92668	0.7670	M	0.79343	2.45	0.80722	D	1	P;P;P	0.51057	0.941;0.546;0.546	P;B;B	0.53224	0.721;0.244;0.244	D	0.92207	0.5773	10	0.41790	T	0.15	.	19.0038	0.92842	0.0:0.0:1.0:0.0	.	834;849;841	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	V	849;834	ENSP00000371084:A849V;ENSP00000264449:A834V	ENSP00000264449:A834V	A	-	2	0	ATP8A1	42161537	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.470000	0.73558	2.561000	0.86390	0.460000	0.39030	GCC		0.328	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		15	43	0	0	0	1	0	15	43				
FNTA	2339	broad.mit.edu	37	8	42940391	42940391	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940391C>T	ENST00000302279.3	+	9	1300	c.1106C>T	c.(1105-1107)aCa>aTa	p.T369I	FNTA_ENST00000342116.4_Missense_Mutation_p.T302I|FNTA_ENST00000529687.1_Missense_Mutation_p.T218I	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAACACAGCACAGAAAATGAC	0.358																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(652-654)aCa>aTa		farnesyltransferase, CAAX box, alpha							94.0	82.0	86.0					8																	42940391		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940391C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1106C>T	8.37:g.42940391C>T	ENSP00000303423:p.Thr369Ile					FNTA_ENST00000302279.3_Missense_Mutation_p.T369I|FNTA_ENST00000342116.4_Missense_Mutation_p.T302I	p.T218I			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		9	1541	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	369					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.653C>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067271	0.36470	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	4.83	0.62350	.	0.544252	0.20205	N	0.097003	T	0.48352	0.1495	L	0.42245	1.32	0.38654	D	0.951926	B;B;B	0.32203	0.36;0.001;0.105	B;B;B	0.24269	0.052;0.001;0.008	T	0.53816	-0.8385	9	0.56958	D	0.05	-4.9882	13.5423	0.61681	0.0:0.8052:0.1948:0.0	.	302;278;369	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	I	369;302	.	ENSP00000303423:T369I	T	+	2	0	FNTA	43059548	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.528000	0.45624	1.419000	0.47118	0.650000	0.86243	ACA		0.358	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		18	32	0	0	0	1	0	18	32				
RGPD4	285190	broad.mit.edu	37	2	108488496	108488496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108488496G>A	ENST00000408999.3	+	20	4113	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1346K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1346	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGATCTAGTTGAAGTATCCAG	0.398																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(4036-4038)Gaa>Aaa		RANBP2-like and GRIP domain containing 4							20.0	15.0	17.0					2																	108488496		692	1587	2279	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488496G>A	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4036G>A	2.37:g.108488496G>A	ENSP00000386810:p.Glu1346Lys					RGPD4_ENST00000354986.4_Missense_Mutation_p.E1346K	p.E1346K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	4113	+			1346			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4036G>A	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	15.33	2.801080	0.50315	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.54866	0.55;0.55	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.71307	0.3324	M	0.85299	2.745	0.40637	D	0.981916	D	0.71674	0.998	D	0.72982	0.979	T	0.74601	-0.3611	9	0.44086	T	0.13	-24.3322	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1346	Q7Z3J3	RGPD4_HUMAN	K	1346	ENSP00000347081:E1346K;ENSP00000386810:E1346K	ENSP00000347081:E1346K	E	+	1	0	RGPD4	107854928	1.000000	0.71417	0.987000	0.45799	0.591000	0.36615	5.465000	0.66725	1.303000	0.44873	0.162000	0.16502	GAA		0.398	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		107	163	0	0	0	1	0	107	163				
CTBP2	1488	broad.mit.edu	37	10	126715549	126715549	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715549G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Silent_p.A260A|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGCTTTCCCGGGCAGGCCCGT	0.647																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(778-780)gcC>gcT		C-terminal binding protein 2							50.0	53.0	52.0					10																	126715549		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715549G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12016C>T	10.37:g.126715549G>A						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	p.A260A	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	910	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	413					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.780C>T	CCDS7643.1																																																																																				0.647	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		29	44	0	0	0	1	0	29	44				
F13B	2165	broad.mit.edu	37	1	197026303	197026303	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197026303C>T	ENST00000367412.1	-	7	1054	c.1011G>A	c.(1009-1011)gaG>gaA	p.E337E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	337	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				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						AGGGTGGTTCCTCACAGGCTA	0.398																																						ENST00000367412.1																			0				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.(1009-1011)gaG>gaA		coagulation factor XIII, B polypeptide							82.0	78.0	79.0					1																	197026303		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197026303C>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.1011G>A	1.37:g.197026303C>T							p.E337E	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			7	1054	-			337			Sushi 6.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.1011G>A	CCDS1388.1																																																																																				0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		23	25	0	0	0	1	0	23	25				
TSPAN12	23554	broad.mit.edu	37	7	120428813	120428813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:120428813C>T	ENST00000222747.3	-	8	1358	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TSPAN12_ENST00000415871.1_Missense_Mutation_p.D251N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	251					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TCCCTTCTATCATAATACAGA	0.488																																						ENST00000222747.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10						c.(751-753)Gat>Aat		tetraspanin 12							88.0	87.0	87.0					7																	120428813		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120428813C>T	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.751G>A	7.37:g.120428813C>T	ENSP00000222747:p.Asp251Asn					TSPAN12_ENST00000415871.1_Missense_Mutation_p.D251N	p.D251N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN			8	1358	-	all_neural(327;0.117)		251					A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.751G>A	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880934	0.72294	.	.	ENSG00000106025	ENST00000222747;ENST00000415871	T;T	0.54866	0.55;0.55	5.68	5.68	0.88126	.	0.309371	0.36482	N	0.002571	T	0.35537	0.0935	N	0.19112	0.55	0.58432	D	0.999996	P	0.35844	0.524	B	0.21546	0.035	T	0.17623	-1.0363	10	0.17369	T	0.5	-26.7767	19.7821	0.96420	0.0:1.0:0.0:0.0	.	251	O95859	TSN12_HUMAN	N	251	ENSP00000222747:D251N;ENSP00000397699:D251N	ENSP00000222747:D251N	D	-	1	0	TSPAN12	120216049	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.294000	0.78760	2.682000	0.91365	0.655000	0.94253	GAT		0.488	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		31	55	0	0	0	1	0	31	55				
LAS1L	81887	broad.mit.edu	37	X	64737987	64737987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64737987C>T	ENST00000374811.3	-	12	1847	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	LAS1L_ENST00000374804.5_Missense_Mutation_p.E544K|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E586K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	603					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATTCTGtcttcctcttcatca	0.527																																						ENST00000374811.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(1807-1809)Gaa>Aaa		LAS1-like (S. cerevisiae)							193.0	146.0	162.0					X																	64737987		2203	4300	6503	SO:0001583	missense	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64737987C>T	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1807G>A	X.37:g.64737987C>T	ENSP00000363944:p.Glu603Lys					LAS1L_ENST00000374804.5_Missense_Mutation_p.E544K|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E586K	p.E603K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN			12	1847	-			603					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	c.1807G>A	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566212	0.27915	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.68	3.75	0.43078	.	0.497718	0.19953	N	0.102365	T	0.51941	0.1704	L	0.60455	1.87	0.09310	N	1	D;D;D;D	0.64830	0.982;0.982;0.97;0.994	P;P;P;P	0.57425	0.765;0.765;0.587;0.82	T	0.40664	-0.9551	9	0.54805	T	0.06	.	10.5883	0.45296	0.0:0.7856:0.2144:0.0	.	544;586;603;116	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	K	586;603;544	.	ENSP00000363937:E544K	E	-	1	0	LAS1L	64654712	0.963000	0.33076	0.020000	0.16555	0.415000	0.31203	4.076000	0.57591	1.905000	0.55150	0.544000	0.68410	GAA		0.527	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		20	25	0	0	0	1	0	20	25				
MACF1	23499	broad.mit.edu	37	1	39806365	39806365	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:39806365C>T	ENST00000372915.3	+	38	10509	c.10422C>T	c.(10420-10422)ttC>ttT	p.F3474F	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.F1909F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.F3506F|MACF1_ENST00000564288.1_Silent_p.F3469F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3474					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTCCACTTCCAGAATGCTG	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10405-10407)ttC>ttT		microtubule-actin crosslinking factor 1							62.0	63.0	63.0					1																	39806365		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806365C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10422C>T	1.37:g.39806365C>T						MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.F1909F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.F3506F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F3474F	p.F3469F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		39	11184	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3474					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.10407C>T																																																																																					0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	5	0	0	0	1	0	18	5				
ROBO1	6091	broad.mit.edu	37	3	78701047	78701047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:78701047G>A	ENST00000464233.1	-	19	2760	c.2647C>T	c.(2647-2649)Caa>Taa	p.Q883*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q847*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.Q844*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q847*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	883					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGCTGACTTGGTCCTCAGGT	0.488																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2530-2532)Caa>Taa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							148.0	144.0	146.0					3																	78701047		2023	4192	6215	SO:0001587	stop_gained	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78701047G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2647C>T	3.37:g.78701047G>A	ENSP00000420321:p.Gln883*					ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q883*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q847*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q847*	p.Q844*			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	17	3527	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	883			Fibronectin type-III 3.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	c.2530C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	39	7.456318	0.98296	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	5.85	5.85	0.93711	.	0.126323	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1588	0.98128	0.0:0.0:1.0:0.0	.	.	.	.	X	844;847;883;847;847;887	.	.	Q	-	1	0	ROBO1	78783737	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	6.042000	0.70996	2.770000	0.95276	0.563000	0.77884	CAA		0.488	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		55	74	0	0	0	1	0	55	74				
SELE	6401	broad.mit.edu	37	1	169697064	169697064	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169697064C>T	ENST00000333360.7	-	9	1423	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	SELE_ENST00000367774.1_Intron|SELE_ENST00000367775.1_Silent_p.V303V|SELE_ENST00000367777.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Silent_p.V303V|SELE_ENST00000367779.4_Intron|SELE_ENST00000367781.4_Silent_p.V365V|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Silent_p.V365V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	428					actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CATCGCATCTCACAGCTGGAA	0.488																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1282-1284)gtG>gtA		selectin E							73.0	71.0	72.0					1																	169697064		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697064C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1284G>A	1.37:g.169697064C>T						SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Silent_p.V303V|SELE_ENST00000367781.4_Silent_p.V365V|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Silent_p.V365V|SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367775.1_Silent_p.V303V|C1orf112_ENST00000498289.1_Intron	p.V428V	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			9	1423	-	all_hematologic(923;0.208)		428					A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.1284G>A	CCDS1283.1																																																																																				0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		20	45	0	0	0	1	0	20	45				
TAF15	8148	broad.mit.edu	37	17	34149697	34149697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34149697C>T	ENST00000588240.1	+	6	459	c.344C>T	c.(343-345)tCa>tTa	p.S115L	AC015849.19_ENST00000588415.1_RNA|TAF15_ENST00000592237.1_Missense_Mutation_p.S24L|TAF15_ENST00000311979.3_Missense_Mutation_p.S112L|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAACAAGATTCATATGACCAG	0.413			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(343-345)tCa>tTa		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							77.0	65.0	69.0					17																	34149697		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34149697C>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.344C>T	17.37:g.34149697C>T	ENSP00000466950:p.Ser115Leu					AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.S112L|TAF15_ENST00000592237.1_Missense_Mutation_p.S24L|AC015849.19_ENST00000588415.1_RNA	p.S115L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	6	459	+		Ovarian(249;0.17)	115			Gln/Gly/Ser/Tyr-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.344C>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720143	0.68844	.	.	ENSG00000172660	ENST00000311979	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.71022	0.3291	M	0.67700	2.07	0.30421	N	0.778139	D;D	0.61080	0.981;0.989	D;D	0.75020	0.966;0.985	T	0.71045	-0.4706	8	0.87932	D	0	-2.1579	15.348	0.74355	0.0:1.0:0.0:0.0	.	115;112	Q92804;Q92804-2	RBP56_HUMAN;.	L	115	.	ENSP00000309558:S115L	S	+	2	0	TAF15	31173810	0.997000	0.39634	0.142000	0.22268	0.821000	0.46438	4.541000	0.60670	2.681000	0.91329	0.655000	0.94253	TCA		0.413	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		19	18	0	0	0	1	0	19	18				
MUC17	140453	broad.mit.edu	37	7	100686756	100686756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686756G>A	ENST00000306151.4	+	3	12123	c.12059G>A	c.(12058-12060)gGc>gAc	p.G4020D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCAGCAGAGGCTGCACTACT	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12058-12060)gGc>gAc		mucin 17, cell surface associated							271.0	240.0	250.0					7																	100686756		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686756G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12059G>A	7.37:g.100686756G>A	ENSP00000302716:p.Gly4020Asp						p.G4020D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	12123	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4020					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12059G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	2.619	-0.289040	0.05605	.	.	ENSG00000169876	ENST00000306151	T	0.01871	4.59	1.54	-2.94	0.05581	.	.	.	.	.	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.23937	0.094	B	0.09377	0.004	T	0.48768	-0.9006	9	0.12103	T	0.63	.	2.7119	0.05177	0.3991:0.2589:0.342:0.0	.	4020	Q685J3	MUC17_HUMAN	D	4020	ENSP00000302716:G4020D	ENSP00000302716:G4020D	G	+	2	0	MUC17	100473476	.	.	0.002000	0.10522	0.108000	0.19459	.	.	-0.459000	0.07013	0.479000	0.44913	GGC		0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		57	90	0	0	0	1	0	57	90				
CCR4	1233	broad.mit.edu	37	3	32995562	32995562	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995562G>A	ENST00000330953.5	+	2	816	c.648G>A	c.(646-648)ggG>ggA	p.G216G		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCCCTTAGGGATCATGCTGT	0.473																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(646-648)ggG>ggA		chemokine (C-C motif) receptor 4							142.0	125.0	131.0					3																	32995562		2203	4300	6503	SO:0001819	synonymous_variant	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995562G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.648G>A	3.37:g.32995562G>A							p.G216G	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	816	+			216					Q9ULY6|Q9ULY7	Silent	SNP	ENST00000330953.5	37	c.648G>A	CCDS2656.1																																																																																				0.473	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			41	66	0	0	0	1	0	41	66				
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGGCCCCGGGAAAATGTCCC	0.602																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25442574G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442574G>A						SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1550	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.602	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			10	17	0	0	0	1	0	10	17				
ZNF407	55628	broad.mit.edu	37	18	72347413	72347413	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347413C>T	ENST00000299687.5	+	1	4438	c.4438C>T	c.(4438-4440)Ccg>Tcg	p.P1480S	ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480S|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGGAGCTTCCGGAGGGAGG	0.468																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4438-4440)Ccg>Tcg		zinc finger protein 407							39.0	43.0	42.0					18																	72347413		1898	4139	6037	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347413C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4438C>T	18.37:g.72347413C>T	ENSP00000299687:p.Pro1480Ser					ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480S	p.P1480S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4438	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1480					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4438C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860415	0.71834	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10960	2.82;3.14	5.7	5.7	0.88788	.	0.071615	0.56097	D	0.000028	T	0.18341	0.0440	N	0.14661	0.345	0.50171	D	0.99985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.984	T	0.25363	-1.0134	10	0.15066	T	0.55	.	19.8437	0.96701	0.0:1.0:0.0:0.0	.	1480;1480;1480	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	1480	ENSP00000299687:P1480S;ENSP00000310359:P1480S	ENSP00000299687:P1480S	P	+	1	0	ZNF407	70476401	1.000000	0.71417	0.958000	0.39756	0.852000	0.48524	5.697000	0.68295	2.693000	0.91896	0.585000	0.79938	CCG		0.468	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		10	11	0	0	0	1	0	10	11				
KRT3	3850	broad.mit.edu	37	12	53189633	53189633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53189633C>T	ENST00000417996.2	-	1	268	c.194G>A	c.(193-195)aGc>aAc	p.S65N	KRT3_ENST00000309505.3_Missense_Mutation_p.S65N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	65	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GATGGAGATGCTCTTGTTGCC	0.672																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(193-195)aGc>aAc		keratin 3							81.0	107.0	98.0					12																	53189633		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189633C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.194G>A	12.37:g.53189633C>T	ENSP00000413479:p.Ser65Asn					KRT3_ENST00000309505.3_Missense_Mutation_p.S65N	p.S65N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	268	-			65			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.194G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.768536	0.49680	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.82803	-1.65;-1.63	5.16	4.25	0.50352	.	0.000000	0.56097	D	0.000031	D	0.83064	0.5173	M	0.85373	2.75	0.24359	N	0.994885	B	0.33694	0.421	B	0.26969	0.075	T	0.75725	-0.3217	10	0.44086	T	0.13	.	15.2426	0.73482	0.0:0.8536:0.1464:0.0	.	65	P12035	K2C3_HUMAN	N	65	ENSP00000413479:S65N;ENSP00000312206:S65N	ENSP00000312206:S65N	S	-	2	0	KRT3	51475900	0.001000	0.12720	0.996000	0.52242	0.962000	0.63368	1.191000	0.32138	1.270000	0.44297	0.555000	0.69702	AGC		0.672	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		57	92	0	0	0	1	0	57	92				
SCN4B	6330	broad.mit.edu	37	11	118007835	118007835	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118007835C>T	ENST00000324727.4	-	5	740	c.594G>A	c.(592-594)aaG>aaA	p.K198K	SCN4B_ENST00000529878.1_Splice_Site_p.K64K|SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	198					AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GACACTCCTTCCTGGAGAGGG	0.602																																						ENST00000324727.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.e5-1		sodium channel, voltage-gated, type IV, beta subunit							68.0	56.0	60.0					11																	118007835		2200	4296	6496	SO:0001630	splice_region_variant	6330					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr11:118007835C>T	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.594-1G>A	11.37:g.118007835C>T						SCN4B_ENST00000423160.2_5'UTR|SCN4B_ENST00000529878.1_Splice_Site_p.K64_splice	p.K198_splice	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	5	740	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	198					E9PPT5|Q6PIG5	Splice_Site	SNP	ENST00000324727.4	37	c.593_splice	CCDS8389.1																																																																																				0.602	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392326.1		Silent	11	20	0	0	0	1	0	11	20				
SGPP1	81537	broad.mit.edu	37	14	64165303	64165303	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64165303C>T	ENST00000247225.6	-	2	852	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	253					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAGTGCATTCCCATGTAAAT	0.299																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(757-759)gGa>gAa		sphingosine-1-phosphate phosphatase 1							65.0	65.0	65.0					14																	64165303		2203	4292	6495	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64165303C>T	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.758G>A	14.37:g.64165303C>T	ENSP00000247225:p.Gly253Glu						p.G253E	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	2	852	-			253					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.758G>A	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537188	0.85812	.	.	ENSG00000126821	ENST00000247225	D	0.83755	-1.76	5.6	5.6	0.85130	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93808	0.8020	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94702	0.7884	10	0.87932	D	0	-7.7219	19.5805	0.95465	0.0:1.0:0.0:0.0	.	253	Q9BX95	SGPP1_HUMAN	E	253	ENSP00000247225:G253E	ENSP00000247225:G253E	G	-	2	0	SGPP1	63235056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.806000	0.96561	0.655000	0.94253	GGA		0.299	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		19	22	0	0	0	1	0	19	22				
HEY2	23493	broad.mit.edu	37	6	126080935	126080935	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:126080935T>C	ENST00000368364.3	+	5	1198	c.1001T>C	c.(1000-1002)gTt>gCt	p.V334A	HEY2_ENST00000368365.1_Missense_Mutation_p.V288A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	334					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGACAGAAGTTGGAGCTTTT	0.473																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(1000-1002)gTt>gCt		hes-related family bHLH transcription factor with YRPW motif 2							31.0	38.0	36.0					6																	126080935		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080935T>C	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.1001T>C	6.37:g.126080935T>C	ENSP00000357348:p.Val334Ala					HEY2_ENST00000368365.1_Missense_Mutation_p.V288A	p.V334A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1198	+			334						Missense_Mutation	SNP	ENST00000368364.3	37	c.1001T>C	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.025169	0.75390	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.61742	0.08;0.08	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	T	0.46151	0.1378	L	0.36672	1.1	0.53688	D	0.999974	P	0.49961	0.93	P	0.48627	0.584	T	0.54417	-0.8297	10	0.72032	D	0.01	-15.6952	15.1576	0.72755	0.0:0.0:0.0:1.0	.	334	Q9UBP5	HEY2_HUMAN	A	288;334	ENSP00000357349:V288A;ENSP00000357348:V334A	ENSP00000357348:V334A	V	+	2	0	HEY2	126122628	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.563000	0.82314	1.974000	0.57490	0.459000	0.35465	GTT		0.473	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			4	41	0	0	0	1	0	4	41				
GDF10	2662	broad.mit.edu	37	10	48438543	48438543	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48438543G>A	ENST00000224605.2	-	1	433	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	56					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGCCGCTGGAGATCCCTGT	0.711																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(166-168)ctC>ctT		growth differentiation factor 10							6.0	7.0	7.0					10																	48438543		2122	4184	6306	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48438543G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.168C>T	10.37:g.48438543G>A							p.L56L	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			1	433	-			56					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.168C>T	CCDS7220.1																																																																																				0.711	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		4	9	0	0	0	1	0	4	9				
PRKCA	5578	broad.mit.edu	37	17	64785068	64785068	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:64785068G>A	ENST00000413366.3	+	16	1851	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	609	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|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 inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	GGAGAACAGGGAGATCCAGCC	0.572																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1825-1827)Gag>Aag		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						55.0	53.0	54.0					17																	64785068		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64785068G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1825G>A	17.37:g.64785068G>A	ENSP00000408695:p.Glu609Lys						p.E609K	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		16	1851	+			609			AGC-kinase C-terminal.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1825G>A	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794745	0.70452	.	.	ENSG00000154229	ENST00000413366	T	0.52983	0.64	5.57	5.57	0.84162	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	L	0.33339	1.005	0.80722	D	1	B	0.32128	0.357	B	0.27608	0.081	T	0.14062	-1.0486	10	0.29301	T	0.29	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	609	P17252	KPCA_HUMAN	K	609	ENSP00000408695:E609K	ENSP00000408695:E609K	E	+	1	0	PRKCA	62215530	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.375000	0.97178	2.630000	0.89119	0.655000	0.94253	GAG		0.572	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			33	37	0	0	0	1	0	33	37				
GUCY1A2	2977	broad.mit.edu	37	11	106681075	106681075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:106681075G>A	ENST00000526355.2	-	5	1804	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H467Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H446Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	446					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.H446Y(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTGGCATCATGGATAGGGATG	0.443																																						ENST00000526355.1																			1	Substitution - Missense(1)	p.H446Y(1)	skin(1)	breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1336-1338)Cat>Tat		guanylate cyclase 1, soluble, alpha 2							101.0	100.0	100.0					11																	106681075		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106681075G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1336C>T	11.37:g.106681075G>A	ENSP00000431245:p.His446Tyr					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H467Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H446Y	p.H446Y	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	5	1804	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	446					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1336C>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563438	0.86335	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.92249	-3.0;-3.0;-3.0	5.64	5.64	0.86602	Haem NO binding associated (1);	0.000000	0.46442	U	0.000284	D	0.96812	0.8959	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.996	D	0.97244	0.9893	10	0.87932	D	0	.	18.6821	0.91549	0.0:0.0:1.0:0.0	.	467;446;446	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	Y	446;446;467	ENSP00000431245:H446Y;ENSP00000282249:H446Y;ENSP00000344874:H467Y	ENSP00000282249:H446Y	H	-	1	0	GUCY1A2	106186285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.644000	0.89710	0.650000	0.86243	CAT		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			22	50	0	0	0	1	0	22	50				
OR4K15	81127	broad.mit.edu	37	14	20444383	20444383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20444383C>T	ENST00000305051.5	+	1	781	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L236I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGTTCCTTTCTCCTCTTGGT	0.463																																						ENST00000305051.5																			1	Substitution - Missense(1)	p.L236I(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(706-708)Ctc>Ttc		olfactory receptor, family 4, subfamily K, member 15							123.0	119.0	121.0					14																	20444383		2203	4298	6501	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444383C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.706C>T	14.37:g.20444383C>T	ENSP00000304077:p.Leu236Phe						p.L236F	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	781	+	all_cancers(95;0.00108)		236					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.706C>T	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	0.227	-1.023684	0.02061	.	.	ENSG00000169488	ENST00000305051	T	0.41065	1.01	4.08	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000354	T	0.29355	0.0731	L	0.55213	1.73	0.09310	N	1	B	0.21225	0.053	B	0.27262	0.078	T	0.34950	-0.9808	10	0.02654	T	1	.	4.9413	0.13967	0.2104:0.6787:0.0:0.1109	.	236	Q8NH41	OR4KF_HUMAN	F	236	ENSP00000304077:L236F	ENSP00000304077:L236F	L	+	1	0	OR4K15	19514223	0.000000	0.05858	0.483000	0.27378	0.284000	0.27059	-1.150000	0.03178	2.093000	0.63338	0.585000	0.79938	CTC		0.463	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			58	78	0	0	0	1	0	58	78				
DTD1	92675	broad.mit.edu	37	20	18724858	18724858	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:18724858G>A	ENST00000377452.3	+	5	772	c.592G>A	c.(592-594)Ggg>Agg	p.G198R		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	198					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						TGCCAGCAGCGGGGCTGAGGG	0.537																																						ENST00000377452.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(592-594)Ggg>Agg		D-tyrosyl-tRNA deacylase 1							62.0	57.0	59.0					20																	18724858		2203	4300	6503	SO:0001583	missense	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18724858G>A	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.592G>A	20.37:g.18724858G>A	ENSP00000366672:p.Gly198Arg						p.G198R	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN			5	772	+			198					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	c.592G>A	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921088	0.92249	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.60541	0.876	T	0.66148	-0.5996	9	0.72032	D	0.01	-7.0377	17.6372	0.88125	0.0:0.0:1.0:0.0	.	198	Q8TEA8	DTD1_HUMAN	R	198	.	ENSP00000366672:G198R	G	+	1	0	DTD1	18672858	1.000000	0.71417	0.988000	0.46212	0.667000	0.39255	8.993000	0.93524	2.769000	0.95229	0.563000	0.77884	GGG		0.537	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		13	38	0	0	0	1	0	13	38				
MROH5	389690	broad.mit.edu	37	8	142506529	142506529	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142506529C>T	ENST00000430863.1	-	0	233					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		ACCATCTGTCCCTGCGGGCAG	0.577																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							99.0	105.0	103.0					8																	142506529		2149	4252	6401			389690							g.chr8:142506529C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506529C>T								NM_207414.2	NP_997297.2					0	233	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.577	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		13	41	0	0	0	1	0	13	41				
C12orf45	121053	broad.mit.edu	37	12	105381946	105381946	+	Splice_Site	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:105381946T>G	ENST00000552951.1	+	2	160	c.117T>G	c.(115-117)ggT>ggG	p.G39G	C12orf45_ENST00000280749.5_Splice_Site_p.G39G	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	39										large_intestine(1)|lung(2)	3						TATTTTCAGGTATATGGGACA	0.433																																						ENST00000552951.1																			0				large_intestine(1)|lung(2)	3						c.e2-1		chromosome 12 open reading frame 45							112.0	103.0	105.0					12																	105381946		1866	4111	5977	SO:0001630	splice_region_variant	121053							g.chr12:105381946T>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.116-1T>G	12.37:g.105381946T>G						C12orf45_ENST00000280749.5_Splice_Site_p.G39_splice	p.G39_splice	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN			2	160	+			39						Splice_Site	SNP	ENST00000552951.1	37	c.115_splice	CCDS41825.1																																																																																				0.433	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318	Silent	15	3	0	0	0	1	0	15	3				
C17orf47	284083	broad.mit.edu	37	17	56620819	56620819	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56620819G>A	ENST00000321691.3	-	1	910	c.729C>T	c.(727-729)gtC>gtT	p.V243V	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	243										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTACAGGGACCCTTCTCT	0.478																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(727-729)gtC>gtT		chromosome 17 open reading frame 47							94.0	101.0	98.0					17																	56620819		2203	4300	6503	SO:0001819	synonymous_variant	284083							g.chr17:56620819G>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.729C>T	17.37:g.56620819G>A						RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	p.V243V	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	910	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		243					Q8N821	Silent	SNP	ENST00000321691.3	37	c.729C>T	CCDS32691.1																																																																																				0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		43	79	0	0	0	1	0	43	79				
AASS	10157	broad.mit.edu	37	7	121756701	121756701	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:121756701G>A	ENST00000393376.1	-	7	975	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R294C			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	294	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTATTAAAACGACTTATGTAG	0.388																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(880-882)Cgt>Tgt		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						88.0	77.0	81.0					7																	121756701		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756701G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.880C>T	7.37:g.121756701G>A	ENSP00000377040:p.Arg294Cys					AASS_ENST00000417368.2_Missense_Mutation_p.R294C|AASS_ENST00000473553.1_Intron	p.R294C			Q9UDR5	AASS_HUMAN			7	975	-			294			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.880C>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788190	0.70337	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82893	-1.66;-1.66	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.215608	0.46442	D	0.000294	D	0.87838	0.6278	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.63033	0.91	D	0.87378	0.2355	10	0.51188	T	0.08	-18.4129	13.5263	0.61597	0.0:0.0:0.7276:0.2723	.	294	Q9UDR5	AASS_HUMAN	C	294	ENSP00000377040:R294C;ENSP00000403768:R294C	ENSP00000351834:R294C	R	-	1	0	AASS	121543937	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.362000	0.66098	2.767000	0.95098	0.655000	0.94253	CGT		0.388	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		29	46	0	0	0	1	0	29	46				
CFHR5	81494	broad.mit.edu	37	1	196977705	196977705	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196977705G>A	ENST00000256785.4	+	10	1711	c.1602G>A	c.(1600-1602)ggG>ggA	p.G534G	CFHR5_ENST00000367414.5_Silent_p.G558G			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	534	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAAAAACAGGGGATGCTGTTG	0.358																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1672-1674)ggG>ggA		complement factor H-related 5							105.0	96.0	99.0					1																	196977705		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196977705G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1602G>A	1.37:g.196977705G>A						CFHR5_ENST00000256785.4_Silent_p.G534G	p.G558G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			10	1730	+			534			Sushi 9.		Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.1674G>A	CCDS1387.1																																																																																				0.358	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		31	25	0	0	0	1	0	31	25				
SLITRK3	22865	broad.mit.edu	37	3	164906992	164906992	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:164906992G>A	ENST00000475390.1	-	2	2070	c.1627C>T	c.(1627-1629)Ccc>Tcc	p.P543S	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P543S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	543					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGCCACGGGAAGATAGAGG	0.507										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1627-1629)Ccc>Tcc		SLIT and NTRK-like family, member 3							60.0	61.0	60.0					3																	164906992		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906992G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1627C>T	3.37:g.164906992G>A	ENSP00000420091:p.Pro543Ser	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.P543S	p.P543S			O94933	SLIK3_HUMAN			2	2070	-			543					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1627C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881773	0.72294	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.58940	0.3;0.3	5.81	5.81	0.92471	.	0.000000	0.37483	N	0.002078	T	0.77498	0.4139	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76892	-0.2791	10	0.56958	D	0.05	-13.5618	20.0478	0.97616	0.0:0.0:1.0:0.0	.	543	O94933	SLIK3_HUMAN	S	543	ENSP00000420091:P543S;ENSP00000241274:P543S	ENSP00000241274:P543S	P	-	1	0	SLITRK3	166389686	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.970000	0.88000	2.906000	0.99361	0.655000	0.94253	CCC		0.507	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		14	33	0	0	0	1	0	14	33				
CCNL2	81669	broad.mit.edu	37	1	1323210	1323210	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323210G>A	ENST00000400809.3	-	10	1163	c.1158C>T	c.(1156-1158)agC>agT	p.S386S	CCNL2_ENST00000408952.5_Silent_p.S164S|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	386	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TCTGCTCACGGCTCCGGCTCC	0.632																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(1156-1158)agC>agT		cyclin L2							42.0	43.0	42.0					1																	1323210		2203	4296	6499	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1323210G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1158C>T	1.37:g.1323210G>A						CCNL2_ENST00000408952.5_Silent_p.S164S|CCNL2_ENST00000505849.1_5'UTR	p.S386S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	10	1163	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	386			RS.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.1158C>T	CCDS30557.1																																																																																				0.632	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		12	9	0	0	0	1	0	12	9				
SYCE1	93426	broad.mit.edu	37	10	135369531	135369531	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135369531C>T	ENST00000343131.5	-	9	653	c.549G>A	c.(547-549)aaG>aaA	p.K183K	SYCE1_ENST00000368517.3_Silent_p.K147K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.K147K	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	183			K -> R (in dbSNP:rs3747881). {ECO:0000269|PubMed:15489334}.		synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACAAATCTCCTTTGCCAGCC	0.557																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(439-441)aaG>aaA		synaptonemal complex central element protein 1							102.0	88.0	93.0					10																	135369531		2203	4300	6503	SO:0001819	synonymous_variant	93426				cell division	central element		g.chr10:135369531C>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.549G>A	10.37:g.135369531C>T						SYCE1_ENST00000343131.5_Silent_p.K183K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.K147K	p.K147K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	9	579	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	183					B2RC80|Q9BWU3|Q9BWU4	Silent	SNP	ENST00000343131.5	37	c.441G>A	CCDS44501.1																																																																																				0.557	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		39	50	0	0	0	1	0	39	50				
AOC3	8639	broad.mit.edu	37	17	41004096	41004096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41004096G>A	ENST00000308423.2	+	1	896	c.736G>A	c.(736-738)Gag>Aag	p.E246K	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	246					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGTGGGCTTGGAGCTGCTAGT	0.622																																					NSCLC(3;192 220 10664 11501 16477)	ENST00000308423.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41						c.(736-738)Gag>Aag		amine oxidase, copper containing 3	Hydralazine(DB01275)|Phenelzine(DB00780)						25.0	25.0	25.0					17																	41004096		2200	4263	6463	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004096G>A	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.736G>A	17.37:g.41004096G>A	ENSP00000312326:p.Glu246Lys						p.E246K	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	896	+		Breast(137;0.000143)	246					B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.736G>A	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454478	0.63290	.	.	ENSG00000131471	ENST00000308423	T	0.22336	1.96	4.93	4.93	0.64822	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.15867	-1.0422	10	0.30078	T	0.28	.	11.6252	0.51139	0.082:0.0:0.918:0.0	.	246	Q16853	AOC3_HUMAN	K	246	ENSP00000312326:E246K	ENSP00000312326:E246K	E	+	1	0	AOC3	38257622	1.000000	0.71417	0.995000	0.50966	0.578000	0.36192	5.746000	0.68681	2.302000	0.77476	0.491000	0.48974	GAG		0.622	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		26	39	0	0	0	1	0	26	39				
CT47B1	643311	broad.mit.edu	37	X	120008876	120008876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008876C>T	ENST00000371311.3	-	1	903	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	217										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCCGCGGGCTCCCTGGCCATC	0.697																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(649-651)Gag>Aag		cancer/testis antigen family 47, member B1							29.0	28.0	28.0					X																	120008876		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008876C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.649G>A	X.37:g.120008876C>T	ENSP00000360360:p.Glu217Lys						p.E217K	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	903	-			217					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.649G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368782	0.24771	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.32	0.275	0.15659	.	.	.	.	.	T	0.15435	0.0372	L	0.32530	0.975	0.09310	N	1	P	0.44344	0.833	B	0.34991	0.193	T	0.17048	-1.0382	8	0.17369	T	0.5	.	4.8835	0.13692	0.0:0.6123:0.3877:0.0	.	217	P0C2W7	CT47B_HUMAN	K	217	.	ENSP00000360360:E217K	E	-	1	0	CT47B1	119892904	0.003000	0.15002	0.000000	0.03702	0.094000	0.18550	0.588000	0.23924	0.032000	0.15435	0.171000	0.16805	GAG		0.697	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		59	90	0	0	0	1	0	59	90				
IL18RAP	8807	broad.mit.edu	37	2	103067347	103067347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103067347G>A	ENST00000264260.2	+	11	1839	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.W275*	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	417	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TATGCAAAATGGAGCTCTTTT	0.343																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1249-1251)tGg>tAg		interleukin 18 receptor accessory protein							103.0	113.0	110.0					2																	103067347		2203	4300	6503	SO:0001587	stop_gained	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103067347G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1250G>A	2.37:g.103067347G>A	ENSP00000264260:p.Trp417*					IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.W275*	p.W417*	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			11	1839	+			417			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Nonsense_Mutation	SNP	ENST00000264260.2	37	c.1250G>A	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966633	0.53507	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	.	.	.	5.58	-2.39	0.06602	.	1.113080	0.06696	N	0.770494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	3.5781	0.07942	0.1101:0.3972:0.1406:0.3521	.	.	.	.	X	417;275	.	ENSP00000264260:W417X	W	+	2	0	IL18RAP	102433779	0.000000	0.05858	0.003000	0.11579	0.117000	0.20001	-0.695000	0.05109	-0.114000	0.11936	-0.150000	0.13652	TGG		0.343	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		36	59	0	0	0	1	0	36	59				
DGKQ	1609	broad.mit.edu	37	4	954460	954460	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:954460G>A	ENST00000273814.3	-	23	2850	c.2777C>T	c.(2776-2778)aCc>aTc	p.T926I	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	926					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)			GGCATCCCTGGTGGTCCCGGC	0.672																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2776-2778)aCc>aTc		diacylglycerol kinase, theta 110kDa							44.0	50.0	48.0					4																	954460		2202	4299	6501	SO:0001583	missense	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.chr4:954460G>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.2777C>T	4.37:g.954460G>A	ENSP00000273814:p.Thr926Ile						p.T926I	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		23	2850	-			926					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2777C>T	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.94|13.94	2.385713|2.385713	0.42308|0.42308	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814;ENST00000515182	.|T;T	.|0.80480	.|-1.38;0.94	4.02|4.02	0.0902|0.0902	0.14462|0.14462	.|.	.|1.440820	.|0.03933	.|N	.|0.285691	T|T	0.64583|0.64583	0.2611|0.2611	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.50162|0.50162	-0.8860|-0.8860	5|10	.|0.36615	.|T	.|0.2	.|.	3.9576|3.9576	0.09396|0.09396	0.3171:0.0:0.5099:0.1729|0.3171:0.0:0.5099:0.1729	.|.	.|926;926	.|E9KL49;P52824	.|.;DGKQ_HUMAN	S|I	860|926;141	.|ENSP00000273814:T926I;ENSP00000421756:T141I	.|ENSP00000273814:T926I	P|T	-|-	1|2	0|0	DGKQ|DGKQ	944460|944460	0.000000|0.000000	0.05858|0.05858	0.150000|0.150000	0.22450|0.22450	0.094000|0.094000	0.18550|0.18550	-0.463000|-0.463000	0.06696|0.06696	0.125000|0.125000	0.18397|0.18397	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.672	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			20	25	0	0	0	1	0	20	25				
DPP9	91039	broad.mit.edu	37	19	4702711	4702711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:4702711C>T	ENST00000598800.1	-	9	1205	c.700G>A	c.(700-702)Gat>Aat	p.D234N	DPP9_ENST00000262960.9_Missense_Mutation_p.D263N|DPP9_ENST00000594671.1_Missense_Mutation_p.D234N|DPP9_ENST00000597849.1_Missense_Mutation_p.D263N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	234						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TTGGGGTCATCCAGGACATTG	0.592																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(787-789)Gat>Aat		dipeptidyl-peptidase 9							27.0	29.0	28.0					19																	4702711		1994	4161	6155	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4702711C>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.700G>A	19.37:g.4702711C>T	ENSP00000469603:p.Asp234Asn					DPP9_ENST00000598800.1_Missense_Mutation_p.D234N|DPP9_ENST00000594671.1_Missense_Mutation_p.D234N|DPP9_ENST00000597849.1_Missense_Mutation_p.D263N	p.D263N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	8	1064	-		Hepatocellular(1079;0.137)	234					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.787G>A		.	.	.	.	.	.	.	.	.	.	C	14.07	2.424429	0.43020	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.29397	1.57	4.39	4.39	0.52855	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.266839	0.41938	D	0.000789	T	0.29945	0.0749	L	0.61218	1.895	0.80722	D	1	B;B	0.14438	0.005;0.01	B;B	0.18263	0.021;0.021	T	0.16188	-1.0411	10	0.07175	T	0.84	-13.5093	16.1211	0.81357	0.0:1.0:0.0:0.0	.	234;263	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	N	342;204;263	ENSP00000262960:D263N	ENSP00000262960:D263N	D	-	1	0	DPP9	4653711	1.000000	0.71417	0.265000	0.24526	0.110000	0.19582	7.598000	0.82745	2.291000	0.77112	0.561000	0.74099	GAT		0.592	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			10	1	0	0	0	1	0	10	1				
PCDHB4	56131	broad.mit.edu	37	5	140502771	140502771	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140502771G>A	ENST00000194152.1	+	1	1191	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACTTTGAAGAATTTTTACA	0.448																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1189-1191)aaG>aaA									65.0	66.0	66.0					5																	140502771		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502771G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1191G>A	5.37:g.140502771G>A							p.K397K	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1191	+			397			Cadherin 4.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1191G>A	CCDS4246.1																																																																																				0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		25	39	0	0	0	1	0	25	39				
CCDC176	80127	broad.mit.edu	37	14	74516716	74516716	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74516716C>T	ENST00000394009.3	+	8	1227	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	CCDC176_ENST00000553773.1_Silent_p.H93H|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	368					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											ATGCTCTGCACCAAGTGAAGC	0.408																																						ENST00000394009.3																			0											c.(1102-1104)caC>caT		coiled-coil domain containing 176							96.0	93.0	94.0					14																	74516716		2203	4300	6503	SO:0001819	synonymous_variant	80127							g.chr14:74516716C>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1104C>T	14.37:g.74516716C>T						AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.H93H	p.H368H	NM_025057.2	NP_079333.2					8	1227	+								Q0P604|Q9H5P8	Silent	SNP	ENST00000394009.3	37	c.1104C>T	CCDS32119.2																																																																																				0.408	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		26	31	0	0	0	1	0	26	31				
NDST4	64579	broad.mit.edu	37	4	115997399	115997399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:115997399C>T	ENST00000264363.2	-	2	1472	c.794G>A	c.(793-795)gGa>gAa	p.G265E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	265	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTCTGAATTCCATCATGAAG	0.433																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(793-795)gGa>gAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							176.0	165.0	169.0					4																	115997399		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997399C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.794G>A	4.37:g.115997399C>T	ENSP00000264363:p.Gly265Glu						p.G265E	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1472	-		Ovarian(17;0.156)	265			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.794G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543603	0.86022	.	.	ENSG00000138653	ENST00000264363	T	0.57907	0.37	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.86864	2.845	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.80306	-0.1438	10	0.59425	D	0.04	.	19.5505	0.95315	0.0:1.0:0.0:0.0	.	265	Q9H3R1	NDST4_HUMAN	E	265	ENSP00000264363:G265E	ENSP00000264363:G265E	G	-	2	0	NDST4	116216848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.610000	0.88304	0.591000	0.81541	GGA		0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		54	68	0	0	0	1	0	54	68				
DVL3	1857	broad.mit.edu	37	3	183887862	183887862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:183887862C>T	ENST00000313143.3	+	14	1815	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	DVL3_ENST00000431765.1_Missense_Mutation_p.P506S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	523					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CACACTGGCCCCTTTGCCGCA	0.677																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1567-1569)Cct>Tct		dishevelled segment polarity protein 3							63.0	59.0	60.0					3																	183887862		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887862C>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1567C>T	3.37:g.183887862C>T	ENSP00000316054:p.Pro523Ser					DVL3_ENST00000431765.1_Missense_Mutation_p.P506S|EIF2B5_ENST00000444495.1_Intron	p.P523S	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1815	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		523					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1567C>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076414	0.94000	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.13307	2.6;2.6	4.9	4.9	0.64082	Winged helix-turn-helix transcription repressor DNA-binding (1);Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.997	D;D;D;D	0.79108	0.987;0.992;0.991;0.987	T	0.43814	-0.9368	10	0.72032	D	0.01	-0.6578	18.427	0.90612	0.0:1.0:0.0:0.0	.	506;355;523;523	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	S	523;523;506	ENSP00000316054:P523S;ENSP00000405885:P506S	ENSP00000316054:P523S	P	+	1	0	DVL3	185370556	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.445000	0.80570	2.430000	0.82344	0.561000	0.74099	CCT		0.677	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		21	46	0	0	0	1	0	21	46				
FCHO1	23149	broad.mit.edu	37	19	17877568	17877568	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17877568C>A	ENST00000596536.1	+	7	568	c.285C>A	c.(283-285)ctC>ctA	p.L95L	FCHO1_ENST00000594202.1_Silent_p.L95L|FCHO1_ENST00000595033.1_Silent_p.L45L|FCHO1_ENST00000597512.1_Silent_p.L102L|FCHO1_ENST00000539407.1_Silent_p.L95L|FCHO1_ENST00000389133.4_Silent_p.L95L|FCHO1_ENST00000600676.1_Silent_p.L95L|FCHO1_ENST00000252771.7_Silent_p.L95L|FCHO1_ENST00000596951.1_Silent_p.L95L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	95	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TACAGGATCTCATCAAGGACG	0.647																																						ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(283-285)ctC>ctA		FCH domain only 1							61.0	47.0	52.0					19																	17877568		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17877568C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.285C>A	19.37:g.17877568C>A						FCHO1_ENST00000252771.7_Silent_p.L95L|FCHO1_ENST00000596951.1_Silent_p.L95L|FCHO1_ENST00000539407.1_Silent_p.L95L|FCHO1_ENST00000595033.1_Silent_p.L45L|FCHO1_ENST00000597512.1_Silent_p.L102L|FCHO1_ENST00000389133.4_Silent_p.L95L|FCHO1_ENST00000596536.1_Silent_p.L95L|FCHO1_ENST00000600676.1_Silent_p.L95L	p.L95L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			7	564	+			95					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	37	c.285C>A	CCDS32955.1																																																																																				0.647	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		23	15	1	0	2.39556e-15	1	2.43492e-15	23	15				
SULT1C3	442038	broad.mit.edu	37	2	108881362	108881362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:108881362C>T	ENST00000329106.2	+	6	703	c.703C>T	c.(703-705)Cac>Tac	p.H235Y		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	235					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AATCATCTATCACACCTCCTT	0.418																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(703-705)Cac>Tac		sulfotransferase family, cytosolic, 1C, member 3							133.0	120.0	125.0					2																	108881362		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108881362C>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.703C>T	2.37:g.108881362C>T	ENSP00000333310:p.His235Tyr						p.H235Y	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			6	703	+			235					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.703C>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635732	0.47049	.	.	ENSG00000196228	ENST00000329106	D	0.83755	-1.76	4.9	3.11	0.35812	Sulfotransferase domain (1);	0.097562	0.44688	D	0.000422	T	0.81814	0.4902	L	0.52206	1.635	0.80722	D	1	P	0.38535	0.635	P	0.48738	0.588	T	0.78780	-0.2070	10	0.56958	D	0.05	.	6.0335	0.19692	0.1622:0.6689:0.0:0.169	.	235	Q6IMI6	ST1C3_HUMAN	Y	235	ENSP00000333310:H235Y	ENSP00000333310:H235Y	H	+	1	0	SULT1C3	108247794	0.444000	0.25649	0.896000	0.35187	0.880000	0.50808	1.971000	0.40530	0.666000	0.31087	-0.136000	0.14681	CAC		0.418	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		32	46	0	0	0	1	0	32	46				
KRTAP10-3	386682	broad.mit.edu	37	21	45978264	45978264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45978264G>A	ENST00000391620.1	-	1	379	c.335C>T	c.(334-336)cCc>cTc	p.P112L	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	112	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						gcagcagacgggcacacagca	0.647																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(334-336)cCc>cTc		keratin associated protein 10-3							140.0	137.0	138.0					21																	45978264		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978264G>A	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.335C>T	21.37:g.45978264G>A	ENSP00000375478:p.Pro112Leu					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.P112L	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	379	-			112			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.335C>T	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	10.47	1.358513	0.24598	.	.	ENSG00000212935	ENST00000391620	T	0.01787	4.64	2.85	2.85	0.33270	.	.	.	.	.	T	0.14570	0.0352	H	0.95850	3.73	0.09310	N	0.999999	D	0.67145	0.996	D	0.64687	0.928	T	0.05582	-1.0876	9	0.87932	D	0	.	11.5243	0.50571	0.0:0.0:1.0:0.0	.	112	P60369	KR103_HUMAN	L	112	ENSP00000375478:P112L	ENSP00000375478:P112L	P	-	2	0	KRTAP10-3	44802692	0.470000	0.25854	0.033000	0.17914	0.085000	0.17905	2.527000	0.45615	1.611000	0.50210	0.196000	0.17591	CCC		0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			102	52	0	0	0	1	0	102	52				
ANKK1	255239	broad.mit.edu	37	11	113270782	113270782	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270782C>T	ENST00000303941.3	+	8	2185	c.2091C>T	c.(2089-2091)caC>caT	p.H697H		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	697							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		CACCCGCCCACCTGGCCGCCC	0.627																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(2089-2091)caC>caT		ankyrin repeat and kinase domain containing 1							32.0	38.0	36.0					11																	113270782		2031	4165	6196	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270782C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2091C>T	11.37:g.113270782C>T							p.H697H	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2185	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	697						Silent	SNP	ENST00000303941.3	37	c.2091C>T	CCDS44734.1																																																																																				0.627	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		24	29	0	0	0	1	0	24	29				
LATS2	26524	broad.mit.edu	37	13	21565462	21565462	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565462G>A	ENST00000382592.4	-	3	829	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.L142L	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCGGGTCCAGGTAGCCCATC	0.582																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(424-426)Ctg>Ttg		large tumor suppressor kinase 2							119.0	89.0	99.0					13																	21565462		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21565462G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.424C>T	13.37:g.21565462G>A						LATS2_ENST00000542899.1_Silent_p.L142L|LATS2_ENST00000472754.1_5'UTR	p.L142L	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	829	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	142						Silent	SNP	ENST00000382592.4	37	c.424C>T	CCDS9294.1																																																																																				0.582	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			21	45	0	0	0	1	0	21	45				
NRG4	145957	broad.mit.edu	37	15	76254278	76254278	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:76254278C>T	ENST00000394907.3	-	4	323	c.142G>A	c.(142-144)Gtt>Att	p.V48I	NRG4_ENST00000535975.1_Missense_Mutation_p.V48I	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	48					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)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						GGGAGAAAAACCTCTTCACAA	0.388																																						ENST00000394907.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(142-144)Gtt>Att		neuregulin 4							92.0	95.0	94.0					15																	76254278		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76254278C>T	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.142G>A	15.37:g.76254278C>T	ENSP00000378367:p.Val48Ile					NRG4_ENST00000535975.1_Missense_Mutation_p.V48I	p.V48I	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN			4	323	-			48					A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.142G>A	CCDS10288.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807140	0.50421	.	.	ENSG00000169752	ENST00000394907;ENST00000535975	T;T	0.42131	0.98;0.98	5.29	4.38	0.52667	.	0.000000	0.28754	U	0.014258	T	0.31918	0.0812	L	0.38531	1.155	0.80722	D	1	B	0.20052	0.041	B	0.19946	0.027	T	0.07404	-1.0774	10	0.24483	T	0.36	-10.6434	11.0206	0.47715	0.0:0.9126:0.0:0.0874	.	48	Q8WWG1	NRG4_HUMAN	I	48	ENSP00000378367:V48I;ENSP00000441129:V48I	ENSP00000378367:V48I	V	-	1	0	NRG4	74041333	0.820000	0.29190	1.000000	0.80357	0.979000	0.70002	0.500000	0.22562	1.222000	0.43521	0.557000	0.71058	GTT		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573		37	61	0	0	0	1	0	37	61				
UTP14C	9724	broad.mit.edu	37	13	52603485	52603485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:52603485C>T	ENST00000521776.2	+	2	1278	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	182					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCAAGAACTCCCCTGGAGCAG	0.532																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(544-546)cCc>cTc		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							67.0	68.0	68.0					13																	52603485		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603485C>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.545C>T	13.37:g.52603485C>T	ENSP00000428619:p.Pro182Leu					ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	p.P182L	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1278	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	182					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.545C>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540858	0.65085	.	.	ENSG00000253797	ENST00000521776	T	0.18016	2.24	2.24	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.43986	0.1272	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51655	-0.8678	10	0.87932	D	0	-13.0273	10.1202	0.42616	0.0:1.0:0.0:0.0	.	182	Q5TAP6	UT14C_HUMAN	L	182	ENSP00000428619:P182L	ENSP00000428619:P182L	P	+	2	0	UTP14C	51501486	0.995000	0.38212	0.980000	0.43619	0.948000	0.59901	4.925000	0.63425	1.269000	0.44280	0.448000	0.29417	CCC		0.532	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		28	38	0	0	0	1	0	28	38				
SLC1A7	6512	broad.mit.edu	37	1	53558361	53558361	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558361G>A	ENST00000371494.4	-	7	1023	c.896C>T	c.(895-897)aCc>aTc	p.T299I	SLC1A7_ENST00000488036.1_5'Flank	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GCACACCACGGTGACTGAGTA	0.567																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(895-897)aCc>aTc		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						96.0	102.0	100.0					1																	53558361		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53558361G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.896C>T	1.37:g.53558361G>A	ENSP00000360549:p.Thr299Ile						p.T299I	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	7	1023	-			299					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.896C>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543697	0.86022	.	.	ENSG00000162383	ENST00000371494	T	0.60299	0.2	5.09	5.09	0.68999	.	0.044853	0.85682	D	0.000000	T	0.80449	0.4625	M	0.88640	2.97	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.84811	0.0790	10	0.87932	D	0	-15.4871	18.4886	0.90838	0.0:0.0:1.0:0.0	.	299	O00341	EAA5_HUMAN	I	299	ENSP00000360549:T299I	ENSP00000360549:T299I	T	-	2	0	SLC1A7	53330949	1.000000	0.71417	0.910000	0.35882	0.704000	0.40688	9.869000	0.99810	2.359000	0.80004	0.655000	0.94253	ACC		0.567	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		10	74	0	0	0	1	0	10	74				
HECTD4	283450	broad.mit.edu	37	12	112630477	112630477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:112630477G>A	ENST00000430131.2	-	58	9058	c.7913C>T	c.(7912-7914)gCc>gTc	p.A2638V	HECTD4_ENST00000550722.1_Missense_Mutation_p.A2914V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A2888V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2638					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTAACAGGCGGCCTCGATGAG	0.632																																						ENST00000550722.1																			0											c.(8740-8742)gCc>gTc		HECT domain containing E3 ubiquitin protein ligase 4							27.0	33.0	31.0					12																	112630477		2031	4172	6203	SO:0001583	missense	283450							g.chr12:112630477G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7913C>T	12.37:g.112630477G>A	ENSP00000404379:p.Ala2638Val					HECTD4_ENST00000377560.5_Missense_Mutation_p.A2888V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A2638V	p.A2914V	NM_001109662.3	NP_001103132.3					59	9136	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.8741C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.330507	0.81690	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.39406	1.08;1.08;1.08	5.85	5.85	0.93711	.	.	.	.	.	T	0.28532	0.0706	N	0.12182	0.205	0.54753	D	0.999984	P	0.34522	0.455	B	0.31191	0.125	T	0.05649	-1.0872	9	0.28530	T	0.3	.	20.1807	0.98201	0.0:0.0:1.0:0.0	.	2638	Q9Y4D8	K0614_HUMAN	V	2888;2638;2914	ENSP00000366783:A2888V;ENSP00000404379:A2638V;ENSP00000449784:A2914V	ENSP00000366783:A2888V	A	-	2	0	C12orf51	111114860	1.000000	0.71417	0.978000	0.43139	0.522000	0.34438	7.513000	0.81739	2.782000	0.95742	0.655000	0.94253	GCC		0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	17	0	0	0	1	0	7	17				
DGAT2L6	347516	broad.mit.edu	37	X	69424805	69424805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69424805G>A	ENST00000333026.3	+	7	963	c.863G>A	c.(862-864)gGg>gAg	p.G288E		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	288					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTCATAGTTGGGGAACCCCTT	0.473																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(862-864)gGg>gAg		diacylglycerol O-acyltransferase 2-like 6							70.0	61.0	64.0					X																	69424805		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424805G>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.863G>A	X.37:g.69424805G>A	ENSP00000328036:p.Gly288Glu						p.G288E	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			7	963	+			288					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.863G>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116893	0.77323	.	.	ENSG00000184210	ENST00000333026	T	0.37411	1.2	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000002	T	0.71929	0.3398	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82208	-0.0571	10	0.87932	D	0	-8.3506	14.1138	0.65139	0.0:0.0:1.0:0.0	.	288	Q6ZPD8	DG2L6_HUMAN	E	288	ENSP00000328036:G288E	ENSP00000328036:G288E	G	+	2	0	DGAT2L6	69341530	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.449000	0.90337	2.202000	0.70862	0.600000	0.82982	GGG		0.473	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		8	31	0	0	0	1	0	8	31				
AHDC1	27245	broad.mit.edu	37	1	27876729	27876729	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27876729G>A	ENST00000247087.5	-	5	2494	c.1898C>T	c.(1897-1899)tCa>tTa	p.S633L	AHDC1_ENST00000374011.2_Missense_Mutation_p.S633L			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	633							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCGGGGCGGTGAGCACCGTCC	0.662																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1897-1899)tCa>tTa		AT hook, DNA binding motif, containing 1							75.0	73.0	74.0					1																	27876729		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27876729G>A	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1898C>T	1.37:g.27876729G>A	ENSP00000247087:p.Ser633Leu					AHDC1_ENST00000247087.5_Missense_Mutation_p.S633L|AHDC1_ENST00000482400.2_Intron	p.S633L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2866	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	633					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1898C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705596	0.89018	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.61274	0.12;0.12	5.52	5.52	0.82312	.	0.000000	0.52532	U	0.000070	T	0.66723	0.2818	L	0.27053	0.805	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.70414	-0.4878	10	0.87932	D	0	-8.365	18.2169	0.89889	0.0:0.0:1.0:0.0	.	633	Q5TGY3	AHDC1_HUMAN	L	633	ENSP00000247087:S633L;ENSP00000363123:S633L	ENSP00000247087:S633L	S	-	2	0	AHDC1	27749316	1.000000	0.71417	0.955000	0.39395	0.985000	0.73830	7.009000	0.76347	2.586000	0.87340	0.655000	0.94253	TCA		0.662	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			35	71	0	0	0	1	0	35	71				
BCAS1	8537	broad.mit.edu	37	20	52583479	52583479	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:52583479G>A	ENST00000395961.3	-	9	1482	c.1316C>T	c.(1315-1317)cCa>cTa	p.P439L	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P470L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	439						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)			AGAGGTTCTTGGTTTGCTTTC	0.468																																						ENST00000395961.3																			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.(1315-1317)cCa>cTa		breast carcinoma amplified sequence 1							240.0	229.0	232.0					20																	52583479		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52583479G>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.1316C>T	20.37:g.52583479G>A	ENSP00000379290:p.Pro439Leu					BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P470L	p.P439L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		9	1482	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		439					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1316C>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960945	0.53400	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000395961	T;T;T	0.06849	3.25;3.25;3.25	5.81	2.55	0.30701	.	0.556675	0.18828	N	0.130071	T	0.17280	0.0415	L	0.50333	1.59	0.09310	N	0.999999	P;D;D	0.63046	0.904;0.992;0.992	P;P;P	0.59948	0.571;0.866;0.866	T	0.02444	-1.1158	10	0.66056	D	0.02	-0.8103	9.5881	0.39528	0.0:0.3652:0.5144:0.1204	.	439;439;439	B2RCQ5;A0AVG7;O75363	.;.;BCAS1_HUMAN	L	332;470;439	ENSP00000396361:P332L;ENSP00000360495:P470L;ENSP00000379290:P439L	ENSP00000360495:P470L	P	-	2	0	BCAS1	52016886	0.308000	0.24509	0.002000	0.10522	0.706000	0.40770	4.746000	0.62133	0.788000	0.33755	0.655000	0.94253	CCA		0.468	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		80	140	0	0	0	1	0	80	140				
SLC5A12	159963	broad.mit.edu	37	11	26718756	26718756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26718756C>T	ENST00000396005.3	-	8	1304	c.995G>A	c.(994-996)gGa>gAa	p.G332E	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G332E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	332					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCCTGGCAGTCCTGGCATTGT	0.383																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(994-996)gGa>gAa		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							156.0	146.0	150.0					11																	26718756		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26718756C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.995G>A	11.37:g.26718756C>T	ENSP00000379326:p.Gly332Glu					SLC5A12_ENST00000280467.6_Missense_Mutation_p.G332E	p.G332E	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			8	1304	-			332					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.995G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	34	5.308186	0.95629	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88741	-2.42;-2.42;-2.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.97195	0.9083	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97976	1.0346	10	0.87932	D	0	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	332;332	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	E	332;332;144	ENSP00000379326:G332E;ENSP00000280467:G332E;ENSP00000435053:G144E	ENSP00000280467:G332E	G	-	2	0	SLC5A12	26675332	1.000000	0.71417	0.976000	0.42696	0.932000	0.56968	7.635000	0.83286	2.834000	0.97654	0.650000	0.86243	GGA		0.383	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		29	50	0	0	0	1	0	29	50				
SORBS1	10580	broad.mit.edu	37	10	97174427	97174427	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97174427G>A	ENST00000361941.3	-	7	660	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.P212S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P212S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P212S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.P203S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P212S|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P180S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P203S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATGAGGGGGAATGAAATCA	0.632																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(634-636)Ccc>Tcc		sorbin and SH3 domain containing 1							45.0	48.0	47.0					10																	97174427		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174427G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.634C>T	10.37:g.97174427G>A	ENSP00000355136:p.Pro212Ser					SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P212S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P203S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P212S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P212S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P203S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P180S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P212S	p.P212S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	9	823	-		Colorectal(252;0.0429)	212						Missense_Mutation	SNP	ENST00000361941.3	37	c.634C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221599	0.79464	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.41065	1.2;1.01;1.2;1.01;1.01;1.01;1.01;1.01	5.54	5.54	0.83059	.	0.000000	0.41823	D	0.000808	T	0.63792	0.2541	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.989;1.0;1.0	D;D;D;P;D;D	0.91635	0.996;0.998;0.999;0.836;0.996;0.998	T	0.64879	-0.6303	10	0.72032	D	0.01	-12.4524	19.4859	0.95028	0.0:0.0:1.0:0.0	.	410;180;212;180;212;212	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	S	180;212;212;212;203;212;212;203	ENSP00000360295:P180S;ENSP00000360293:P212S;ENSP00000360271:P212S;ENSP00000360292:P212S;ENSP00000377521:P203S;ENSP00000355136:P212S;ENSP00000277982:P212S;ENSP00000277984:P203S	ENSP00000277982:P212S	P	-	1	0	SORBS1	97164417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.117000	0.77129	2.608000	0.88229	0.555000	0.69702	CCC		0.632	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			20	39	0	0	0	1	0	20	39				
MAGEE1	57692	broad.mit.edu	37	X	75648906	75648906	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648906G>A	ENST00000361470.2	+	1	861	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	195	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTGATGAGGGACCAAGCAC	0.697																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(583-585)Gga>Aga		melanoma antigen family E, 1							29.0	25.0	26.0					X																	75648906		2199	4296	6495	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648906G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.583G>A	X.37:g.75648906G>A	ENSP00000354912:p.Gly195Arg						p.G195R	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	861	+			195			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.583G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	9.260	1.042865	0.19748	.	.	ENSG00000198934	ENST00000361470	T	0.11063	2.81	2.05	1.16	0.20824	.	.	.	.	.	T	0.04907	0.0132	N	0.19112	0.55	0.09310	N	1	P	0.38827	0.649	B	0.28784	0.094	T	0.35699	-0.9778	9	0.87932	D	0	.	2.3032	0.04167	0.1912:0.0:0.5101:0.2986	.	195	Q9HCI5	MAGE1_HUMAN	R	195	ENSP00000354912:G195R	ENSP00000354912:G195R	G	+	1	0	MAGEE1	75565310	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	-0.326000	0.07965	0.298000	0.22638	0.529000	0.55759	GGA		0.697	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	23	0	0	0	1	0	6	23				
SPEN	23013	broad.mit.edu	37	1	16260017	16260017	+	Missense_Mutation	SNP	C	C	T	rs370674242		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16260017C>T	ENST00000375759.3	+	11	7486	c.7282C>T	c.(7282-7284)Ccc>Tcc	p.P2428S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2428	Interaction with MSX2. {ECO:0000250}.|Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCTGTGCCCCCAGACCT	0.547																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7282-7284)Ccc>Tcc		spen family transcriptional repressor		C	SER/PRO	0,4406		0,0,2203	74.0	82.0	79.0		7282	3.5	0.0	1		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPEN	NM_015001.2	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2428/3665	16260017	1,13005	2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260017C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7282C>T	1.37:g.16260017C>T	ENSP00000364912:p.Pro2428Ser						p.P2428S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7486	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2428			Interaction with MSX2 (By similarity).|Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7282C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	2.731	-0.264340	0.05754	0.0	1.16E-4	ENSG00000065526	ENST00000375759	T	0.08634	3.07	4.38	3.46	0.39613	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	B	0.26445	0.149	B	0.28784	0.094	T	0.42241	-0.9463	9	0.08837	T	0.75	0.0036	10.5173	0.44898	0.0:0.909:0.0:0.091	.	2428	Q96T58	MINT_HUMAN	S	2428	ENSP00000364912:P2428S	ENSP00000364912:P2428S	P	+	1	0	SPEN	16132604	0.047000	0.20315	0.023000	0.16930	0.139000	0.21198	3.346000	0.52190	1.054000	0.40438	0.462000	0.41574	CCC		0.547	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		10	6	0	0	0	1	0	10	6				
ARHGEF1	9138	broad.mit.edu	37	19	42409915	42409915	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42409915C>T	ENST00000354532.3	+	25	2488	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	ARHGEF1_ENST00000337665.4_Silent_p.T795T|ARHGEF1_ENST00000599846.1_Silent_p.T836T|ARHGEF1_ENST00000378152.4_Silent_p.T762T|ARHGEF1_ENST00000347545.4_Silent_p.T747T|CTD-2575K13.6_ENST00000597630.1_RNA	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	780					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTCAGCACCCGAGAACCCC	0.672																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2506-2508)acC>acT		Rho guanine nucleotide exchange factor (GEF) 1							60.0	53.0	56.0					19																	42409915		2203	4300	6503	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42409915C>T	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2340C>T	19.37:g.42409915C>T						ARHGEF1_ENST00000354532.3_Silent_p.T780T|ARHGEF1_ENST00000347545.4_Silent_p.T747T|ARHGEF1_ENST00000378152.4_Silent_p.T762T|ARHGEF1_ENST00000337665.4_Silent_p.T795T	p.T836T			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	26	2633	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	780					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.2508C>T	CCDS12591.1																																																																																				0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		16	40	0	0	0	1	0	16	40				
MRC2	9902	broad.mit.edu	37	17	60755897	60755897	+	Silent	SNP	G	G	A	rs142797663		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:60755897G>A	ENST00000303375.5	+	13	2487	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	695	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGACAAGAAGAGCTGGGTCC	0.657																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2083-2085)aaG>aaA		mannose receptor, C type 2		G		1,4403		0,1,2201	17.0	19.0	19.0		2085	5.1	1.0	17	dbSNP_134	19	0,8596		0,0,4298	no	coding-synonymous	MRC2	NM_006039.3		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		695/1480	60755897	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60755897G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2085G>A	17.37:g.60755897G>A							p.K695K	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			13	2487	+			695			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2085G>A	CCDS11634.1																																																																																				0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			12	21	0	0	0	1	0	12	21				
CACNA1D	776	broad.mit.edu	37	3	53785837	53785837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785837C>T	ENST00000350061.5	+	28	4089	c.3578C>T	c.(3577-3579)cCc>cTc	p.P1193L	CACNA1D_ENST00000540742.1_Missense_Mutation_p.P100L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1193L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1213L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					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)	CCCAAAAACCCCTACCAGTAC	0.498																																						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.(3637-3639)cCc>cTc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						244.0	209.0	221.0					3																	53785837		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.chr3:53785837C>T	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.3578C>T	3.37:g.53785837C>T	ENSP00000288133:p.Pro1193Leu					CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1193L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P100L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1193L	p.P1213L	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)	29	3756	+			1193					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3638C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703005	0.88924	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97480	-4.0;-4.03;-4.01;-4.02;-4.4	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.98302	0.9437	M	0.87038	2.855	0.80722	D	1	D;B;P;B;P	0.52996	0.957;0.404;0.745;0.053;0.917	P;B;B;B;P	0.55260	0.71;0.197;0.439;0.065;0.772	D	0.98545	1.0634	10	0.62326	D	0.03	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1193;100;886;1193;1213	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	L	1193;1213;1193;886;100	ENSP00000288133:P1193L;ENSP00000288139:P1213L;ENSP00000409174:P1193L;ENSP00000418014:P886L;ENSP00000438229:P100L	ENSP00000288139:P1213L	P	+	2	0	CACNA1D	53760877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.842000	0.62831	2.804000	0.96469	0.655000	0.94253	CCC		0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		57	112	0	0	0	1	0	57	112				
TBC1D14	57533	broad.mit.edu	37	4	6925544	6925544	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6925544C>T	ENST00000409757.4	+	2	552	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	143					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.P128Q(1)|p.P143Q(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CTCTATAGCCCGACCTCCAAA	0.602																																						ENST00000409757.4																			2	Substitution - Missense(2)	p.P128Q(1)|p.P143Q(1)	lung(2)	breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(427-429)cCg>cTg		TBC1 domain family, member 14							125.0	120.0	121.0					4																	6925544		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925544C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.428C>T	4.37:g.6925544C>T	ENSP00000386921:p.Pro143Leu					TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143L	p.P143L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	552	+			143					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.428C>T	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891251	0.72524	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.06528	3.29;3.29	4.73	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02966	-1.1088	9	.	.	.	-15.2022	12.1711	0.54160	0.0:0.9174:0.0:0.0826	.	143	Q9P2M4	TBC14_HUMAN	L	143	ENSP00000404041:P143L;ENSP00000386921:P143L	.	P	+	2	0	TBC1D14	6976445	1.000000	0.71417	0.991000	0.47740	0.540000	0.34992	4.706000	0.61845	1.221000	0.43506	0.585000	0.79938	CCG		0.602	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		18	100	0	0	0	1	0	18	100				
DOK1	1796	broad.mit.edu	37	2	74783947	74783947	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74783947G>A	ENST00000233668.5	+	5	1821	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.K245K|DOK1_ENST00000340004.6_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000393937.2_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	384	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGGAGCCCAAGGATGCATGGT	0.607																																					Esophageal Squamous(36;520 860 12502 33616 51270)	ENST00000233668.5																			0				endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1150-1152)aaG>aaA		docking protein 1, 62kDa (downstream of tyrosine kinase 1)							70.0	73.0	72.0					2																	74783947		2203	4300	6503	SO:0001819	synonymous_variant	1796				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	g.chr2:74783947G>A	U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1152G>A	2.37:g.74783947G>A						DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.K245K|DOK1_ENST00000340004.6_3'UTR	p.K384K	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN			5	1821	+			384			Pro-rich.		O43204|Q53TY2|Q9UHG6	Silent	SNP	ENST00000233668.5	37	c.1152G>A	CCDS1954.1																																																																																				0.607	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252218.3	NM_001381		42	72	0	0	0	1	0	42	72				
GPATCH3	63906	broad.mit.edu	37	1	27224200	27224200	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224200G>A	ENST00000361720.5	-	2	491	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		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;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTCTTGAAGGGAAAGGAGC	0.517																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(466-468)ccC>ccT		G patch domain containing 3							24.0	26.0	25.0					1																	27224200		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27224200G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.468C>T	1.37:g.27224200G>A							p.P156P	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	491	-		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)	156					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.468C>T	CCDS290.1																																																																																				0.517	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		5	15	0	0	0	1	0	5	15				
CACNA1S	779	broad.mit.edu	37	1	201041907	201041907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201041907G>A	ENST00000362061.3	-	16	2429	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P735S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	735					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGGGTAGGGATCCTTCACC	0.502																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2203-2205)Ccc>Tcc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						158.0	159.0	159.0					1																	201041907		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201041907G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2203C>T	1.37:g.201041907G>A	ENSP00000355192:p.Pro735Ser					CACNA1S_ENST00000367338.3_Missense_Mutation_p.P735S	p.P735S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			16	2429	-			735					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2203C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156744	0.57259	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95918	-3.85;-3.75	3.95	3.95	0.45737	.	1824.700000	0.00166	U	0.000000	D	0.97405	0.9151	M	0.77406	2.37	0.58432	D	0.999999	D	0.62365	0.991	P	0.54140	0.743	D	0.90665	0.4593	10	0.52906	T	0.07	.	16.2415	0.82411	0.0:0.0:1.0:0.0	.	735	Q13698	CAC1S_HUMAN	S	735	ENSP00000355192:P735S;ENSP00000356307:P735S	ENSP00000355192:P735S	P	-	1	0	CACNA1S	199308530	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	9.386000	0.97228	2.049000	0.60858	0.543000	0.68304	CCC		0.502	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		26	76	0	0	0	1	0	26	76				
RGS19	10287	broad.mit.edu	37	20	62705289	62705289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62705289C>T	ENST00000395042.1	-	6	837	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Missense_Mutation_p.D191N	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	191	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGGTAGGAGTCCCGGTGCATG	0.662																																						ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(571-573)Gac>Aac		regulator of G-protein signaling 19							148.0	117.0	128.0					20																	62705289		2203	4300	6503	SO:0001583	missense	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705289C>T	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.571G>A	20.37:g.62705289C>T	ENSP00000378483:p.Asp191Asn					RGS19_ENST00000332298.5_Missense_Mutation_p.D191N	p.D191N	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			6	837	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		191			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Missense_Mutation	SNP	ENST00000395042.1	37	c.571G>A	CCDS13555.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284602	0.95517	.	.	ENSG00000171700	ENST00000395042;ENST00000332298	T;T	0.36520	1.25;1.25	5.5	5.5	0.81552	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.90019	3.08	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	T	0.74805	-0.3540	10	0.59425	D	0.04	.	18.9685	0.92706	0.0:1.0:0.0:0.0	.	191	P49795	RGS19_HUMAN	N	191	ENSP00000378483:D191N;ENSP00000333194:D191N	ENSP00000333194:D191N	D	-	1	0	RGS19	62175733	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.652000	0.83633	2.576000	0.86940	0.591000	0.81541	GAC		0.662	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		34	66	0	0	0	1	0	34	66				
KCNK13	56659	broad.mit.edu	37	14	90650549	90650549	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90650549C>G	ENST00000282146.4	+	2	870	c.429C>G	c.(427-429)aaC>aaG	p.N143K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	143					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGTTCTTCAACCTCTTCCTGG	0.562																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(427-429)aaC>aaG		potassium channel, subfamily K, member 13							105.0	111.0	109.0					14																	90650549		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650549C>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.429C>G	14.37:g.90650549C>G	ENSP00000282146:p.Asn143Lys						p.N143K	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	870	+		all_cancers(154;0.186)	143					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.429C>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450994	0.84209	.	.	ENSG00000152315	ENST00000282146	T	0.24538	1.85	5.31	4.41	0.53225	Ion transport 2 (1);	0.000000	0.45361	D	0.000376	T	0.43853	0.1266	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.17471	-1.0368	10	0.41790	T	0.15	.	14.3161	0.66452	0.0:0.9266:0.0:0.0734	.	143	Q9HB14	KCNKD_HUMAN	K	143	ENSP00000282146:N143K	ENSP00000282146:N143K	N	+	3	2	KCNK13	89720302	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.080000	0.71299	2.476000	0.83614	0.655000	0.94253	AAC		0.562	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		41	64	0	0	0	1	0	41	64				
ZNF639	51193	broad.mit.edu	37	3	179051424	179051424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179051424C>T	ENST00000326361.3	+	7	1117	c.672C>T	c.(670-672)atC>atT	p.I224I	ZNF639_ENST00000484866.1_Silent_p.I224I|ZNF639_ENST00000496856.1_Silent_p.I224I|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	224					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AGCATATGATCCTGAAGCATA	0.378																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(670-672)atC>atT		zinc finger protein 639							68.0	63.0	65.0					3																	179051424		2203	4300	6503	SO:0001819	synonymous_variant	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051424C>T	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.672C>T	3.37:g.179051424C>T						ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.I224I|ZNF639_ENST00000496856.1_Silent_p.I224I	p.I224I	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1117	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		224					A9X3Z9|D3DNR3	Silent	SNP	ENST00000326361.3	37	c.672C>T	CCDS3227.1																																																																																				0.378	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		19	42	0	0	0	1	0	19	42				
CPN2	1370	broad.mit.edu	37	3	194063239	194063239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194063239C>T	ENST00000323830.3	-	2	282	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CPN2_ENST00000429275.1_Missense_Mutation_p.E65K	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	65					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCTCTGGTTTCCAATGTGGTG	0.547																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(193-195)Gaa>Aaa		carboxypeptidase N, polypeptide 2							159.0	143.0	148.0					3																	194063239		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194063239C>T	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.193G>A	3.37:g.194063239C>T	ENSP00000319464:p.Glu65Lys					CPN2_ENST00000429275.1_Missense_Mutation_p.E65K	p.E65K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	282	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		65					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.193G>A	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.341392	0.01277	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.24908	1.83;1.83	5.19	2.2	0.27929	.	0.488214	0.15498	N	0.259192	T	0.19846	0.0477	L	0.55834	1.745	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36529	-0.9744	10	0.06236	T	0.91	.	9.9385	0.41565	0.0:0.678:0.1653:0.1568	.	65	P22792	CPN2_HUMAN	K	65	ENSP00000319464:E65K;ENSP00000402232:E65K	ENSP00000319464:E65K	E	-	1	0	CPN2	195544934	0.000000	0.05858	0.046000	0.18839	0.092000	0.18411	-0.238000	0.08977	0.671000	0.31185	0.561000	0.74099	GAA		0.547	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		47	58	0	0	0	1	0	47	58				
SLC1A7	6512	broad.mit.edu	37	1	53558360	53558360	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53558360G>A	ENST00000371494.4	-	7	1024	c.897C>T	c.(895-897)acC>acT	p.T299T	SLC1A7_ENST00000488036.1_5'Flank	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	299					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CGCACACCACGGTGACTGAGT	0.572																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(895-897)acC>acT		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						97.0	102.0	101.0					1																	53558360		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53558360G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.897C>T	1.37:g.53558360G>A							p.T299T	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	7	1024	-			299					Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.897C>T	CCDS574.1																																																																																				0.572	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		10	73	0	0	0	1	0	10	73				
SPRR3	6707	broad.mit.edu	37	1	152975579	152975579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152975579C>T	ENST00000295367.4	+	2	125	c.83C>T	c.(82-84)cCa>cTa	p.P28L	SPRR3_ENST00000331860.3_Missense_Mutation_p.P28L|SPRR3_ENST00000542696.1_Missense_Mutation_p.P28L	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	28					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCAGCCTCCACCTCAGGAA	0.512																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(82-84)cCa>cTa		small proline-rich protein 3							79.0	74.0	76.0					1																	152975579		2203	4300	6503	SO:0001583	missense	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975579C>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.83C>T	1.37:g.152975579C>T	ENSP00000295367:p.Pro28Leu					SPRR3_ENST00000542696.1_Missense_Mutation_p.P28L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P28L	p.P28L	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	233	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		28					A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	c.83C>T	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706317	0.48412	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	4.49	2.61	0.31194	.	.	.	.	.	T	0.23330	0.0564	M	0.78456	2.415	0.45979	D	0.998791	B;B	0.34161	0.385;0.439	B;B	0.43950	0.31;0.437	T	0.05257	-1.0896	9	0.66056	D	0.02	.	8.6533	0.34049	0.0:0.8096:0.0:0.1904	.	28;28	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	L	28	ENSP00000330391:P28L;ENSP00000402016:P28L;ENSP00000295367:P28L;ENSP00000441477:P28L	ENSP00000295367:P28L	P	+	2	0	SPRR3	151242203	0.388000	0.25197	0.871000	0.34182	0.926000	0.56050	0.591000	0.23969	0.609000	0.30018	0.563000	0.77884	CCA		0.512	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		19	28	0	0	0	1	0	19	28				
ADCK2	90956	broad.mit.edu	37	7	140394570	140394570	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394570C>T	ENST00000072869.4	+	8	2026	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000204307.5_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAGCGAGGCCCTTCCTCCTCA	0.622																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1846-1848)ccC>ccT		aarF domain containing kinase 2							101.0	92.0	95.0					7																	140394570		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394570C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1848C>T	7.37:g.140394570C>T						NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	p.P616P	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			8	2026	+	Melanoma(164;0.00956)		616			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1848C>T	CCDS5861.1																																																																																				0.622	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		39	41	0	0	0	1	0	39	41				
CXCR5	643	broad.mit.edu	37	11	118765006	118765006	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118765006C>T	ENST00000292174.4	+	2	929	c.753C>T	c.(751-753)cgC>cgT	p.R251R	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	251					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCCAGCGGCGCCCTCAGCGGC	0.627																																						ENST00000292174.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(751-753)cgC>cgT		chemokine (C-X-C motif) receptor 5							83.0	67.0	73.0					11																	118765006		2200	4295	6495	SO:0001819	synonymous_variant	643				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr11:118765006C>T	X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	1060	protein-coding gene	gene with protein product		601613	"""Burkitt lymphoma receptor 1, GTP-binding protein"", ""Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"""	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.753C>T	11.37:g.118765006C>T						BCL9L_ENST00000334801.3_3'UTR	p.R251R	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	2	929	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	251					Q14811	Silent	SNP	ENST00000292174.4	37	c.753C>T	CCDS8402.1																																																																																				0.627	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389309.1	NM_001716		18	26	0	0	0	1	0	18	26				
CSHL1	1444	broad.mit.edu	37	17	61987975	61987975	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987975G>A	ENST00000309894.5	-	3	190				CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.P107L|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TACTCTTCTGGGAACCTGGCT	0.522																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(319-321)cCc>cTc		chorionic somatomammotropin hormone-like 1																																				SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987975G>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.191-80C>T	17.37:g.61987975G>A						CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	p.P107L			Q14406	CSHL_HUMAN			2	381	-			0					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.320C>T	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	8.594	0.885249	0.17540	.	.	ENSG00000204414	ENST00000392824	D	0.89552	-2.53	1.88	-0.339	0.12647	.	.	.	.	.	T	0.75968	0.3922	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.58399	-0.7643	7	.	.	.	.	2.5118	0.04659	0.1798:0.0:0.5349:0.2853	.	107	B7Z6E9	.	L	107	ENSP00000376569:P107L	.	P	-	2	0	GH1	59341707	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.482000	0.02320	-0.033000	0.13736	-0.698000	0.03680	CCC		0.522	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		30	44	0	0	0	1	0	30	44				
ITIH6	347365	broad.mit.edu	37	X	54818415	54818415	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54818415C>T	ENST00000218436.6	-	3	341	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	104	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CATAGATTTTCTTTGCCTGGT	0.443																																						ENST00000218436.6																			0											c.(310-312)aaG>aaA		inter-alpha-trypsin inhibitor heavy chain family, member 6							269.0	189.0	216.0					X																	54818415		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54818415C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.312G>A	X.37:g.54818415C>T							p.K104K	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			3	341	-			104			VIT.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.312G>A	CCDS14361.1																																																																																				0.443	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		33	77	0	0	0	1	0	33	77				
MRVI1	10335	broad.mit.edu	37	11	10625981	10625981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:10625981C>T	ENST00000436272.1	-	12	1711	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	MRVI1_ENST00000423302.2_Missense_Mutation_p.E572K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E257K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E563K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E481K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E481K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E257K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E257K|MRVI1_ENST00000547195.1_Missense_Mutation_p.E481K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E564K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.E257K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E366K			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	545	Interaction with ITPR1. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTTCCAGTTCTTTCTCAGTG	0.483																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1441-1443)Gaa>Aaa		murine retrovirus integration site 1 homolog							194.0	189.0	190.0					11																	10625981		1944	4140	6084	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10625981C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1633G>A	11.37:g.10625981C>T	ENSP00000412229:p.Glu545Lys					MRVI1_ENST00000531107.1_Missense_Mutation_p.E564K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E563K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E481K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.E257K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E257K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E572K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E257K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E481K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E257K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E366K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E545K	p.E481K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	12	1941	-			545					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1441G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.295852	0.95574	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.991;0.998;0.998;0.997	T	0.61758	-0.6997	10	0.87932	D	0	-12.5607	18.9425	0.92610	0.0:1.0:0.0:0.0	.	366;545;564;563	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	563;546;545;481;481;257;257;572;366;564;481	ENSP00000414598:E563K;ENSP00000412229:E545K;ENSP00000448278:E481K;ENSP00000446764:E481K;ENSP00000441971:E257K;ENSP00000401205:E257K;ENSP00000412130:E572K;ENSP00000437784:E366K;ENSP00000432436:E564K;ENSP00000432067:E481K	ENSP00000307885:E546K	E	-	1	0	MRVI1	10582557	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.256000	0.78350	2.536000	0.85505	0.467000	0.42956	GAA		0.483	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		13	30	0	0	0	1	0	13	30				
RYR1	6261	broad.mit.edu	37	19	39075702	39075702	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39075702C>T	ENST00000359596.3	+	102	14766	c.14766C>T	c.(14764-14766)ttC>ttT	p.F4922F	RYR1_ENST00000355481.4_Silent_p.F4917F|RYR1_ENST00000360985.3_Silent_p.F4917F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4922					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCACCTTCTTCTTCTTCGTCA	0.612																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14749-14751)ttC>ttT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						256.0	182.0	207.0					19																	39075702		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39075702C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14766C>T	19.37:g.39075702C>T						RYR1_ENST00000360985.3_Silent_p.F4917F|RYR1_ENST00000359596.3_Silent_p.F4922F	p.F4917F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14882	+	all_cancers(60;7.91e-06)		4922					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.14751C>T	CCDS33011.1																																																																																				0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			17	23	0	0	0	1	0	17	23				
FANCD2	2177	broad.mit.edu	37	3	10105521	10105521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:10105521C>T	ENST00000419585.1	+	21	2034	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	FANCD2_ENST00000287647.3_Missense_Mutation_p.P625S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P625S|FANCD2_ENST00000383806.1_Missense_Mutation_p.P625S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	625					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGAGCAGTCTCCTCAGGCCTC	0.453			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(1873-1875)Cct>Tct	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							64.0	63.0	64.0					3																	10105521		2202	4281	6483	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10105521C>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1873C>T	3.37:g.10105521C>T	ENSP00000398754:p.Pro625Ser					FANCD2_ENST00000383806.1_Missense_Mutation_p.P625S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P625S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P625S	p.P625S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	21	1966	+			625					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.1873C>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.657963	0.88154	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.69823	2.125	0.49582	D	0.999807	D;D	0.61080	0.989;0.989	P;P	0.59595	0.86;0.86	T	0.73196	-0.4059	10	0.37606	T	0.19	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	625;625	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	S	625	ENSP00000287647:P625S;ENSP00000373318:P625S;ENSP00000373317:P625S;ENSP00000398754:P625S	ENSP00000287647:P625S	P	+	1	0	FANCD2	10080521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.329000	0.59260	2.839000	0.97877	0.580000	0.79431	CCT		0.453	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			29	45	0	0	0	1	0	29	45				
NLGN1	22871	broad.mit.edu	37	3	173997364	173997364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:173997364C>T	ENST00000457714.1	+	6	2002	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	NLGN1_ENST00000545397.1_Missense_Mutation_p.P525S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P525S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P565S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	542					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGAGTTATTTCCTTGCAATTT	0.443																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1573-1575)Cct>Tct		neuroligin 1							54.0	53.0	53.0					3																	173997364		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997364C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1573C>T	3.37:g.173997364C>T	ENSP00000392500:p.Pro525Ser					NLGN1_ENST00000545397.1_Missense_Mutation_p.P525S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P565S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P525S	p.P525S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2002	+	Ovarian(172;0.0025)		542					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1573C>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849612	0.51270	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51635	0.1686	N	0.16602	0.42	0.80722	D	1	B;B	0.23128	0.08;0.025	B;B	0.35114	0.196;0.019	T	0.41840	-0.9486	10	0.34782	T	0.22	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	565;525	D2X2H5;Q8N2Q7-2	.;.	S	525;525;525;565	ENSP00000392500:P525S;ENSP00000354541:P525S;ENSP00000441108:P525S;ENSP00000385750:P565S	ENSP00000354541:P525S	P	+	1	0	NLGN1	175480058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCT		0.443	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		14	44	0	0	0	1	0	14	44				
A1CF	29974	broad.mit.edu	37	10	52573626	52573626	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573626G>A	ENST00000373993.1	-	8	1382	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Silent_p.L439L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.2_Silent_p.L438L|A1CF_ENST00000373997.3_Silent_p.L438L|A1CF_ENST00000395495.1_Silent_p.L391L|A1CF_ENST00000282641.2_Silent_p.L446L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	446					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGGGAGCGAGTTTAATTC	0.388																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1315-1317)ctC>ctT		APOBEC1 complementation factor							122.0	125.0	124.0					10																	52573626		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573626G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1338C>T	10.37:g.52573626G>A						A1CF_ENST00000282641.2_Silent_p.L446L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.L438L|A1CF_ENST00000373993.1_Silent_p.L446L|A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000395495.1_Silent_p.L391L|A1CF_ENST00000373997.3_Silent_p.L438L|A1CF_ENST00000493415.1_5'UTR	p.L439L	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1713	-			446					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.1317C>T	CCDS7242.1																																																																																				0.388	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		32	53	0	0	0	1	0	32	53				
PCDHGA9	56107	broad.mit.edu	37	5	140784814	140784814	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140784814G>C	ENST00000573521.1	+	1	2295	c.2295G>C	c.(2293-2295)aaG>aaC	p.K765N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_5'Flank|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	765					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCAAGGAAGAGTCACCTGA	0.522																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2293-2295)aaG>aaC									111.0	120.0	117.0					5																	140784814		2203	4300	6503	SO:0001583	missense	56107							g.chr5:140784814G>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2295G>C	5.37:g.140784814G>C	ENSP00000460274:p.Lys765Asn					PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.K765N	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2295	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2295G>C	CCDS58981.1																																																																																				0.522	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		40	60	0	0	0	1	0	40	60				
MROH7	374977	broad.mit.edu	37	1	55144428	55144428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55144428G>A	ENST00000421030.2	+	11	2235	c.1950G>A	c.(1948-1950)aaG>aaA	p.K650K	MROH7-TTC4_ENST00000414150.2_Silent_p.K650K|MROH7_ENST00000545244.1_Silent_p.K218K|MROH7_ENST00000454855.2_Silent_p.K168K|MROH7_ENST00000409996.1_Silent_p.K218K|MROH7_ENST00000339553.5_Silent_p.K650K|MROH7_ENST00000395690.2_Silent_p.K650K	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	650						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCAGAGATAAGGAAGAGACCA	0.483																																						ENST00000414150.2																			0											c.(1948-1950)aaG>aaA		maestro heat-like repeat family member 7							86.0	93.0	91.0					1																	55144428		1951	4139	6090	SO:0001819	synonymous_variant	374977							g.chr1:55144428G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1950G>A	1.37:g.55144428G>A						MROH7_ENST00000339553.5_Silent_p.K650K|MROH7_ENST00000395690.2_Silent_p.K650K|MROH7_ENST00000454855.2_Silent_p.K168K|MROH7_ENST00000545244.1_Silent_p.K218K|MROH7_ENST00000409996.1_Silent_p.K218K|MROH7_ENST00000421030.2_Silent_p.K650K	p.K650K							11	2228	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1950G>A	CCDS41342.2																																																																																				0.483	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		26	27	0	0	0	1	0	26	27				
C10orf90	118611	broad.mit.edu	37	10	128147687	128147687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128147687C>T	ENST00000284694.7	-	6	1939	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	C10orf90_ENST00000544758.1_Missense_Mutation_p.E704K|C10orf90_ENST00000356858.3_Missense_Mutation_p.E560K|C10orf90_ENST00000480379.1_Missense_Mutation_p.E11K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E510K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	607	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTCAGGTCCTCCTTCCGCTGG	0.552																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1819-1821)Gag>Aag		chromosome 10 open reading frame 90							195.0	150.0	165.0					10																	128147687		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147687C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1819G>A	10.37:g.128147687C>T	ENSP00000284694:p.Glu607Lys					C10orf90_ENST00000356858.3_Missense_Mutation_p.E560K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E704K|C10orf90_ENST00000480379.1_Missense_Mutation_p.E11K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E510K	p.E607K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1939	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	607					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1819G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825792	0.50739	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.20200	2.09;2.12;2.11;2.13	5.01	5.01	0.66863	.	0.000000	0.43919	D	0.000510	T	0.40743	0.1129	L	0.58101	1.795	0.80722	D	1	P;D;D	0.71674	0.934;0.973;0.998	P;P;D	0.66084	0.559;0.559;0.941	T	0.08066	-1.0740	10	0.46703	T	0.11	-14.8175	15.1753	0.72907	0.0:1.0:0.0:0.0	.	704;607;510	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	K	560;607;510;704;607	ENSP00000284694:E607K;ENSP00000398786:E510K;ENSP00000444369:E704K;ENSP00000405995:E607K	ENSP00000284694:E607K	E	-	1	0	C10orf90	128137677	0.062000	0.20869	0.225000	0.23894	0.682000	0.39822	1.725000	0.38074	2.595000	0.87683	0.655000	0.94253	GAG		0.552	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		32	55	0	0	0	1	0	32	55				
NSD1	64324	broad.mit.edu	37	5	176636700	176636700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636700C>T	ENST00000439151.2	+	5	1345	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	NSD1_ENST00000361032.4_Missense_Mutation_p.P331S|NSD1_ENST00000347982.4_Missense_Mutation_p.P165S|NSD1_ENST00000354179.4_Missense_Mutation_p.P165S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATGATGTTCCCAAGGGGTC	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1300-1302)Ccc>Tcc		nuclear receptor binding SET domain protein 1							83.0	79.0	81.0					5																	176636700		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636700C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1300C>T	5.37:g.176636700C>T	ENSP00000395929:p.Pro434Ser	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.P165S|NSD1_ENST00000361032.4_Missense_Mutation_p.P331S|NSD1_ENST00000354179.4_Missense_Mutation_p.P165S	p.P434S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1345	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	434					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1300C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649158	0.67358	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92965	-3.01;-3.01;-3.01;-3.14	5.32	5.32	0.75619	.	0.101938	0.44285	D	0.000466	D	0.91985	0.7461	L	0.27053	0.805	0.35154	D	0.770013	D;D;D	0.76494	0.988;0.974;0.999	P;P;P	0.60682	0.796;0.736;0.878	D	0.93261	0.6643	9	.	.	.	.	16.7769	0.85553	0.0:1.0:0.0:0.0	.	165;331;434	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	165;165;434;165;331	ENSP00000346111:P165S;ENSP00000395929:P434S;ENSP00000343209:P165S;ENSP00000354310:P331S	.	P	+	1	0	NSD1	176569306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	2.485000	0.83878	0.591000	0.81541	CCC		0.378	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	37	0	0	0	1	0	25	37				
RIMS1	22999	broad.mit.edu	37	6	72984052	72984052	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72984052G>A	ENST00000521978.1	+	23	3399	c.3399G>A	c.(3397-3399)agG>agA	p.R1133R	RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Splice_Site_p.R1069R|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1133					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGCAAACAGGGGTAGATGGT	0.463																																						ENST00000521978.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.e23-1		regulating synaptic membrane exocytosis 1							79.0	74.0	76.0					6																	72984052		1869	4099	5968	SO:0001630	splice_region_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72984052G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3399-1G>A	6.37:g.72984052G>A						RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000518273.1_Splice_Site_p.R1069_splice|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Intron	p.R1133_splice	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN			23	3399	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1133					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Splice_Site	SNP	ENST00000521978.1	37	c.3398_splice	CCDS47449.1																																																																																				0.463	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		Silent	5	23	0	0	0	1	0	5	23				
SAMM50	25813	broad.mit.edu	37	22	44385100	44385100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44385100C>T	ENST00000350028.4	+	13	1342	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	SAMM50_ENST00000396202.3_Silent_p.F185F	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	395					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GAACACACTTCTTTCTCAACG	0.488																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1183-1185)ttC>ttT		SAMM50 sorting and assembly machinery component							105.0	95.0	99.0					22																	44385100		2203	4300	6503	SO:0001819	synonymous_variant	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44385100C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1185C>T	22.37:g.44385100C>T						SAMM50_ENST00000396202.3_Silent_p.F185F	p.F395F	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			13	1342	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	395					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Silent	SNP	ENST00000350028.4	37	c.1185C>T	CCDS14055.1																																																																																				0.488	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		45	60	0	0	0	1	0	45	60				
TENM1	10178	broad.mit.edu	37	X	123518366	123518366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123518366G>A	ENST00000371130.3	-	29	6457	c.6394C>T	c.(6394-6396)Cgc>Tgc	p.R2132C	TENM1_ENST00000422452.2_Missense_Mutation_p.R2139C|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2132					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2134C(1)									ATTACCATGCGGCCCACATTA	0.398																																						ENST00000422452.2																			1	Substitution - Missense(1)	p.R2134C(1)	endometrium(1)								c.(6415-6417)Cgc>Tgc		teneurin transmembrane protein 1							203.0	171.0	182.0					X																	123518366		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123518366G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6394C>T	X.37:g.123518366G>A	ENSP00000360171:p.Arg2132Cys					TENM1_ENST00000371130.3_Missense_Mutation_p.R2132C|STAG2_ENST00000469481.1_Intron	p.R2139C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6478	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6415C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246567	0.59103	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90324	-2.65;-2.61	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94820	0.8327	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.987;0.994	D	0.95287	0.8391	10	0.87932	D	0	.	18.3494	0.90333	0.0:0.0:1.0:0.0	.	2138;2139;2132	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2132;2139	ENSP00000360171:R2132C;ENSP00000403954:R2139C	ENSP00000360171:R2132C	R	-	1	0	ODZ1	123346047	1.000000	0.71417	0.894000	0.35097	0.993000	0.82548	7.863000	0.87023	2.272000	0.75746	0.544000	0.68410	CGC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		81	148	0	0	0	1	0	81	148				
CTNNA3	29119	broad.mit.edu	37	10	68979493	68979493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:68979493C>T	ENST00000433211.2	-	6	889	c.715G>A	c.(715-717)Gac>Aac	p.D239N	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D239N|CTNNA3_ENST00000545309.1_Missense_Mutation_p.D239N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAAACTGTGTCCTTGCTTGCT	0.453																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(715-717)Gac>Aac		catenin (cadherin-associated protein), alpha 3							152.0	149.0	150.0					10																	68979493		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979493C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.715G>A	10.37:g.68979493C>T	ENSP00000389714:p.Asp239Asn					CTNNA3_ENST00000545309.1_Missense_Mutation_p.D239N|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D239N	p.D239N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			6	889	-			239						Missense_Mutation	SNP	ENST00000433211.2	37	c.715G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776619	0.90195	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.35236	1.32;1.32;1.32	5.4	5.4	0.78164	.	0.000000	0.52532	D	0.000074	T	0.60521	0.2275	M	0.67700	2.07	0.48901	D	0.999729	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.999;0.994;0.994	T	0.63220	-0.6686	10	0.87932	D	0	-12.8539	17.9379	0.89018	0.0:1.0:0.0:0.0	.	239;239;239;239	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	N	239	ENSP00000389714:D239N;ENSP00000362849:D239N;ENSP00000441444:D239N	ENSP00000362849:D239N	D	-	1	0	CTNNA3	68649499	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.987000	0.70571	2.538000	0.85594	0.591000	0.81541	GAC		0.453	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		44	70	0	0	0	1	0	44	70				
IGHV3-53	28420	broad.mit.edu	37	14	107048710	107048710	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107048710G>A	ENST00000390627.2	-	0	530									immunoglobulin heavy variable 3-53																		TCGGCTCTCAGGCTGTTCATT	0.542																																						ENST00000390627.2																			0																				109.0	127.0	121.0					14																	107048710		2093	4263	6356			28420							g.chr14:107048710G>A	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048710G>A														0	530	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.542	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		73	86	0	0	0	1	0	73	86				
RYR1	6261	broad.mit.edu	37	19	38933001	38933001	+	Missense_Mutation	SNP	G	G	A	rs118192160		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38933001G>A	ENST00000359596.3	+	3	178	c.178G>A	c.(178-180)Gat>Aat	p.D60N	RYR1_ENST00000355481.4_Missense_Mutation_p.D60N|RYR1_ENST00000360985.3_Missense_Mutation_p.D60N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	60					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGTGCCCCCCGATCTGGCCAT	0.632																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM061939	RYR1	M	rs118192160	c.(178-180)Gat>Aat		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						67.0	59.0	62.0					19																	38933001		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38933001G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.178G>A	19.37:g.38933001G>A	ENSP00000352608:p.Asp60Asn					RYR1_ENST00000360985.3_Missense_Mutation_p.D60N|RYR1_ENST00000359596.3_Missense_Mutation_p.D60N	p.D60N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	309	+	all_cancers(60;7.91e-06)		60					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.178G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.551150	0.27739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98567	-5.0;-5.0;-5.0	3.66	3.66	0.41972	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98121	0.9380	L	0.60904	1.88	0.46542	D	0.999099	D;D	0.76494	0.999;0.999	P;D	0.66602	0.893;0.945	D	0.97454	1.0030	10	0.36615	T	0.2	.	12.9082	0.58164	0.0:0.0:1.0:0.0	.	60;60	P21817-2;P21817	.;RYR1_HUMAN	N	60	ENSP00000352608:D60N;ENSP00000347667:D60N;ENSP00000354254:D60N	ENSP00000347667:D60N	D	+	1	0	RYR1	43624841	1.000000	0.71417	0.921000	0.36526	0.308000	0.27856	9.185000	0.94900	1.885000	0.54596	0.290000	0.19541	GAT		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	40	0	0	0	1	0	15	40				
CEACAM18	729767	broad.mit.edu	37	19	51986356	51986356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51986356G>A	ENST00000396477.4	+	4	780	c.759G>A	c.(757-759)atG>atA	p.M253I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M314I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	253	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTGGAAATGGAGTGTATCT	0.502																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(757-759)atG>atA		carcinoembryonic antigen-related cell adhesion molecule 18							210.0	202.0	204.0					19																	51986356		1991	4178	6169	SO:0001583	missense	729767					integral to membrane		g.chr19:51986356G>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.759G>A	19.37:g.51986356G>A	ENSP00000379738:p.Met253Ile					CEACAM18_ENST00000451626.1_Missense_Mutation_p.M314I	p.M253I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	780	+		all_neural(266;0.0529)	314					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.759G>A		.	.	.	.	.	.	.	.	.	.	.	9.273	1.046129	0.19748	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.38401	1.14	2.76	-0.939	0.10408	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35278	0.0926	M	0.64997	1.995	0.09310	N	1	B	0.22541	0.071	B	0.34346	0.18	T	0.48258	-0.9051	9	0.59425	D	0.04	-21.2392	4.8378	0.13473	0.136:0.4323:0.4317:0.0	.	314	A8MTB9	CEA18_HUMAN	I	314;253;253	ENSP00000402203:M314I	ENSP00000379738:M253I	M	+	3	0	CEACAM18	56678168	0.002000	0.14202	0.000000	0.03702	0.033000	0.12548	0.407000	0.21049	-0.056000	0.13221	-0.518000	0.04402	ATG		0.502	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			71	117	0	0	0	1	0	71	117				
CTDNEP1	23399	broad.mit.edu	37	17	7149394	7149394	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7149394G>A	ENST00000573600.1	-	7	961	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CTDNEP1_ENST00000574322.1_Silent_p.S180S|CTDNEP1_ENST00000572043.1_Silent_p.S47S|CTDNEP1_ENST00000318988.6_Silent_p.S180S|CTD-2545G14.7_ENST00000570760.2_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	180	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCACAATGCTGGAGAGGTCAC	0.567																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(538-540)tcC>tcT		CTD nuclear envelope phosphatase 1							80.0	76.0	77.0					17																	7149394		2203	4300	6503	SO:0001819	synonymous_variant	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7149394G>A	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.540C>T	17.37:g.7149394G>A						CTDNEP1_ENST00000572043.1_Silent_p.S47S|CTDNEP1_ENST00000318988.6_Silent_p.S180S|CTDNEP1_ENST00000574322.1_Silent_p.S180S	p.S180S			O95476	CNEP1_HUMAN			7	961	-			180			FCP1 homology.		D3DTN7|Q96GQ9	Silent	SNP	ENST00000573600.1	37	c.540C>T	CCDS11093.1																																																																																				0.567	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		26	42	0	0	0	1	0	26	42				
HECW2	57520	broad.mit.edu	37	2	197182021	197182021	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197182021C>T	ENST00000260983.3	-	10	2593	c.2411G>A	c.(2410-2412)aGg>aAg	p.R804K	HECW2_ENST00000409111.1_Missense_Mutation_p.R448K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	804	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTCCACCCTCTGGTACCG	0.532																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2410-2412)aGg>aAg		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							84.0	71.0	75.0					2																	197182021		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197182021C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2411G>A	2.37:g.197182021C>T	ENSP00000260983:p.Arg804Lys					HECW2_ENST00000409111.1_Missense_Mutation_p.R448K	p.R804K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			10	2593	-			804			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.2411G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785045	0.90282	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.30448	1.53;1.55	5.84	5.84	0.93424	WW/Rsp5/WWP (1);	0.102466	0.64402	D	0.000009	T	0.26955	0.0660	L	0.32530	0.975	0.50171	D	0.999858	P	0.52170	0.951	P	0.46718	0.525	T	0.02301	-1.1180	10	0.06099	T	0.92	.	15.6119	0.76727	0.0:0.8632:0.1368:0.0	.	804	Q9P2P5	HECW2_HUMAN	K	448;804	ENSP00000386775:R448K;ENSP00000260983:R804K	ENSP00000260983:R804K	R	-	2	0	HECW2	196890266	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.518000	0.67068	2.771000	0.95319	0.655000	0.94253	AGG		0.532	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		4	12	0	0	0	1	0	4	12				
C3orf22	152065	broad.mit.edu	37	3	126268910	126268910	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:126268910G>A	ENST00000318225.2	-	4	605	c.227C>T	c.(226-228)cCa>cTa	p.P76L		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	76										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TGTAAAATCTGGAGCCCCGAG	0.612																																						ENST00000318225.2																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7						c.(226-228)cCa>cTa		chromosome 3 open reading frame 22							88.0	75.0	79.0					3																	126268910		2203	4300	6503	SO:0001583	missense	152065							g.chr3:126268910G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.227C>T	3.37:g.126268910G>A	ENSP00000316644:p.Pro76Leu						p.P76L	NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	4	605	-			76					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.227C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414047	0.25465	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.71	2.71	0.32032	.	0.235959	0.22090	N	0.064765	T	0.37919	0.1021	L	0.29908	0.895	0.09310	N	1	D	0.63046	0.992	P	0.57620	0.824	T	0.07888	-1.0749	9	0.72032	D	0.01	-7.3689	9.0973	0.36647	0.0:0.0:1.0:0.0	.	76	Q8N5N4	CC022_HUMAN	L	76	.	ENSP00000316644:P76L	P	-	2	0	C3orf22	127751600	0.735000	0.28153	0.006000	0.13384	0.004000	0.04260	2.044000	0.41241	1.837000	0.53436	0.313000	0.20887	CCA		0.612	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		14	22	0	0	0	1	0	14	22				
TTN	7273	broad.mit.edu	37	2	179604010	179604010	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179604010G>A	ENST00000591111.1	-	46	13223	c.12999C>T	c.(12997-12999)ttC>ttT	p.F4333F	TTN_ENST00000342175.6_Silent_p.F4479F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.F4650F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.F4412F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.F4287F			Q8WZ42	TITIN_HUMAN	titin	12091	Ig-like 23.				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)			GTAAACACTTGAACTTTTCAT	0.388																																						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.(13948-13950)ttC>ttT		titin							136.0	120.0	125.0					2																	179604010		1897	4119	6016	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604010G>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.12999C>T	2.37:g.179604010G>A						TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.F4333F|TTN_ENST00000359218.5_Silent_p.F4412F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.F4479F|TTN_ENST00000460472.2_Silent_p.F4287F|TTN-AS1_ENST00000585451.1_RNA	p.F4650F	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)		48	14174	-			4333			Ig-like 26.		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	Silent	SNP	ENST00000591111.1	37	c.13950C>T																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	23	0	0	0	1	0	10	23				
TRIM60	166655	broad.mit.edu	37	4	165962216	165962216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962216G>A	ENST00000512596.1	+	3	1208	c.992G>A	c.(991-993)aGg>aAg	p.R331K	TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K|TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	331	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATGACCCAAGGAGATTTTAT	0.408																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(991-993)aGg>aAg		tripartite motif containing 60							110.0	112.0	111.0					4																	165962216		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962216G>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.992G>A	4.37:g.165962216G>A	ENSP00000421142:p.Arg331Lys					TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K	p.R331K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1208	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	331			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.992G>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409913	0.01145	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.09630	2.96;2.96;2.96	2.49	-1.63	0.08345	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	1.355410	0.05867	N	0.624003	T	0.04998	0.0134	N	0.11364	0.135	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.41858	-0.9485	10	0.02654	T	1	.	9.0413	0.36319	0.5529:0.0:0.4471:0.0	.	331	Q495X7	TRI60_HUMAN	K	331	ENSP00000421142:R331K;ENSP00000426496:R331K;ENSP00000343765:R331K	ENSP00000343765:R331K	R	+	2	0	TRIM60	166181666	0.021000	0.18746	0.000000	0.03702	0.005000	0.04900	0.091000	0.15046	-0.930000	0.03752	-0.797000	0.03246	AGG		0.408	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		27	42	0	0	0	1	0	27	42				
C7	730	broad.mit.edu	37	5	40976893	40976893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40976893G>A	ENST00000313164.9	+	16	2475	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	706	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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)							Ovarian(839;0.0112)				TCAGCGCTGGGAGAAACTGCA	0.403																																						ENST00000313164.9																			0											c.(2116-2118)Gag>Aag		complement component 7							92.0	95.0	94.0					5																	40976893		1964	4150	6114	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40976893G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2116G>A	5.37:g.40976893G>A	ENSP00000322061:p.Glu706Lys					C7_ENST00000494960.1_3'UTR	p.E706K	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			16	2475	+		Ovarian(839;0.0112)	706			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2116G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066127	0.93898	.	.	ENSG00000112936	ENST00000313164	T	0.64260	-0.09	4.88	4.88	0.63580	Factor I / membrane attack complex (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.62723	1.935	0.58432	D	0.999999	D	0.71674	0.998	D	0.81914	0.995	T	0.78262	-0.2272	10	0.54805	T	0.06	-22.4867	17.822	0.88653	0.0:0.0:1.0:0.0	.	706	P10643	CO7_HUMAN	K	706	ENSP00000322061:E706K	ENSP00000322061:E706K	E	+	1	0	C7	41012650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.411000	0.73298	2.531000	0.85337	0.591000	0.81541	GAG		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			5	5	0	0	0	1	0	5	5				
SHROOM2	357	broad.mit.edu	37	X	9900522	9900522	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:9900522C>T	ENST00000380913.3	+	6	3289	c.3199C>T	c.(3199-3201)Cca>Tca	p.P1067S	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1067	Poly-Pro.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGGCCACCGCCACCCAAGCG	0.697																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3199-3201)Cca>Tca		shroom family member 2							19.0	18.0	19.0					X																	9900522		2193	4296	6489	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900522C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3199C>T	X.37:g.9900522C>T	ENSP00000370299:p.Pro1067Ser					SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	p.P1067S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			6	3289	+		Hepatocellular(5;0.000888)	1067			Poly-Pro.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3199C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127189	0.56721	.	.	ENSG00000146950	ENST00000380913	T	0.25250	1.81	4.17	3.29	0.37713	.	0.492039	0.17763	N	0.162827	T	0.35508	0.0934	L	0.43152	1.355	0.46823	D	0.999211	D	0.67145	0.996	P	0.61940	0.896	T	0.01988	-1.1234	10	0.21014	T	0.42	.	11.2501	0.49020	0.0:0.9066:0.0:0.0934	.	1067	Q13796	SHRM2_HUMAN	S	1067	ENSP00000370299:P1067S	ENSP00000370299:P1067S	P	+	1	0	SHROOM2	9860522	0.075000	0.21258	0.001000	0.08648	0.166000	0.22503	3.277000	0.51654	0.596000	0.29794	0.594000	0.82650	CCA		0.697	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		14	16	0	0	0	1	0	14	16				
SLC4A7	9497	broad.mit.edu	37	3	27453224	27453224	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453224G>A	ENST00000295736.5	-	12	1718	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGAAACACAGGAATCTTTCTC	0.418																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1648-1650)Cct>Tct		solute carrier family 4, sodium bicarbonate cotransporter, member 7							49.0	51.0	51.0					3																	27453224		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27453224G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1648C>T	3.37:g.27453224G>A	ENSP00000295736:p.Pro550Ser					SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426S	p.P550S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			12	1718	-			550					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1648C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727758	0.48833	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.06;-1.07;-1.07;-1.15;-1.07;-1.14;-1.08;-1.15;-1.08;-1.37;0.35;-1.08	5.63	5.63	0.86233	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.199719	0.53938	D	0.000048	D	0.82609	0.5074	L	0.52364	1.645	0.53688	D	0.999974	P;B;P;P;P;B;B;P;B	0.49783	0.739;0.279;0.614;0.928;0.614;0.032;0.4;0.739;0.279	B;B;B;P;B;B;B;B;B	0.50270	0.443;0.178;0.298;0.636;0.298;0.049;0.331;0.443;0.178	T	0.78425	-0.2209	10	0.23891	T	0.37	.	20.054	0.97641	0.0:0.0:1.0:0.0	.	546;431;542;546;559;100;426;550;431	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	101;550;426;559;546;431;542;431;546;435;100;542;446	ENSP00000411031:P101S;ENSP00000295736:P550S;ENSP00000416368:P426S;ENSP00000390394:P559S;ENSP00000414797:P546S;ENSP00000394252:P431S;ENSP00000406605:P542S;ENSP00000407382:P431S;ENSP00000406804:P546S;ENSP00000395336:P435S;ENSP00000373429:P100S;ENSP00000401949:P542S;ENSP00000388703:P446S	ENSP00000295736:P550S	P	-	1	0	SLC4A7	27428228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.410000	0.80065	2.808000	0.96608	0.655000	0.94253	CCT		0.418	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		12	22	0	0	0	1	0	12	22				
NUP62	23636	broad.mit.edu	37	19	50412009	50412009	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50412009G>A	ENST00000596217.1	-	2	2943	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NUP62_ENST00000597723.1_Intron|NUP62_ENST00000597029.1_Silent_p.L352L|NUP62_ENST00000600583.1_5'Flank|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Silent_p.L352L|NUP62_ENST00000413454.1_Silent_p.L352L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Silent_p.L352L			P37198	NUP62_HUMAN	nucleoporin 62kDa	352					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGGCCTGCTGGAGGAAGTGCC	0.632																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(1054-1056)ctC>ctT		nucleoporin 62kDa							90.0	93.0	92.0					19																	50412009		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412009G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1056C>T	19.37:g.50412009G>A						IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.L352L|NUP62_ENST00000597029.1_Silent_p.L352L|NUP62_ENST00000413454.1_Silent_p.L352L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Silent_p.L352L	p.L352L			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2943	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	352					B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.1056C>T	CCDS12788.1																																																																																				0.632	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		53	98	0	0	0	1	0	53	98				
GJA10	84694	broad.mit.edu	37	6	90604513	90604513	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90604513G>A	ENST00000369352.1	+	1	326	c.326G>A	c.(325-327)aGg>aAg	p.R109K		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	109					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GACAGGCAGAGGAAAAAGTCA	0.463																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(325-327)aGg>aAg		gap junction protein, alpha 10, 62kDa							77.0	73.0	74.0					6																	90604513		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604513G>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.326G>A	6.37:g.90604513G>A	ENSP00000358358:p.Arg109Lys						p.R109K	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	326	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	109					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.326G>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	8.759	0.923028	0.18056	.	.	ENSG00000135355	ENST00000369352	D	0.97575	-4.44	4.91	2.14	0.27477	.	0.389594	0.28284	N	0.015901	D	0.82710	0.5096	N	0.11927	0.2	0.28496	N	0.914255	B	0.12013	0.005	B	0.20384	0.029	T	0.73222	-0.4051	10	0.15499	T	0.54	.	7.8359	0.29369	0.4496:0.0:0.5504:0.0	.	109	Q969M2	CXA10_HUMAN	K	109	ENSP00000358358:R109K	ENSP00000358358:R109K	R	+	2	0	GJA10	90661234	1.000000	0.71417	0.706000	0.30403	0.797000	0.45037	1.077000	0.30741	0.268000	0.21939	0.563000	0.77884	AGG		0.463	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		17	18	0	0	0	1	0	17	18				
CDH9	1007	broad.mit.edu	37	5	26915831	26915831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:26915831C>T	ENST00000231021.4	-	3	602	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGATAAATTCCGATTCCGGT	0.398																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(430-432)Gaa>Aaa		cadherin 9, type 2 (T1-cadherin)							115.0	115.0	115.0					5																	26915831		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915831C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.430G>A	5.37:g.26915831C>T	ENSP00000231021:p.Glu144Lys						p.E144K	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			3	602	-			144			Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.430G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433263	0.83776	.	.	ENSG00000113100	ENST00000231021	T	0.52057	0.68	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.050025	0.85682	D	0.000000	T	0.58750	0.2144	M	0.80508	2.5	0.45477	D	0.998443	P	0.41710	0.76	P	0.48524	0.58	T	0.61955	-0.6956	9	.	.	.	.	12.3278	0.55022	0.0:0.8293:0.1707:0.0	.	144	Q9ULB4	CADH9_HUMAN	K	144	ENSP00000231021:E144K	.	E	-	1	0	CDH9	26951588	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.886000	0.69743	2.275000	0.75901	0.650000	0.86243	GAA		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		44	92	0	0	0	1	0	44	92				
GABRG2	2566	broad.mit.edu	37	5	161580116	161580116	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161580116C>T	ENST00000361925.4	+	9	1366	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GABRG2_ENST00000356592.3_Silent_p.I390I|GABRG2_ENST00000414552.2_Silent_p.I430I|GABRG2_ENST00000393933.4_Silent_p.I287I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	382					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATTGATATCCGCCCAAGAT	0.488																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1168-1170)atC>atT		gamma-aminobutyric acid (GABA) A receptor, gamma 2							113.0	103.0	106.0					5																	161580116		2203	4300	6503	SO:0001819	synonymous_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580116C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1146C>T	5.37:g.161580116C>T						GABRG2_ENST00000393933.4_Silent_p.I287I|GABRG2_ENST00000361925.4_Silent_p.I382I|GABRG2_ENST00000414552.2_Silent_p.I430I	p.I390I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1630	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	382					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1170C>T	CCDS4358.1																																																																																				0.488	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			14	28	0	0	0	1	0	14	28				
AFF3	3899	broad.mit.edu	37	2	100623133	100623133	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100623133C>T	ENST00000409236.2	-	5	946	c.834G>A	c.(832-834)aaG>aaA	p.K278K	AFF3_ENST00000409579.1_Silent_p.K303K|AFF3_ENST00000356421.2_Silent_p.K303K|AFF3_ENST00000317233.4_Silent_p.K278K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	278					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGCTTGGCCTTGGCTCTGG	0.542																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(832-834)aaG>aaA		AF4/FMR2 family, member 3							53.0	56.0	55.0					2																	100623133		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623133C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.834G>A	2.37:g.100623133C>T						AFF3_ENST00000409579.1_Silent_p.K303K|AFF3_ENST00000356421.2_Silent_p.K303K|AFF3_ENST00000409236.1_Silent_p.K278K	p.K278K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	1069	-			278					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.834G>A	CCDS42723.1																																																																																				0.542	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		29	32	0	0	0	1	0	29	32				
DYNC1I2	1781	broad.mit.edu	37	2	172582533	172582533	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:172582533T>G	ENST00000397119.3	+	9	879	c.712T>G	c.(712-714)Tct>Gct	p.S238A	DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232A|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.S238A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230A|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238A	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	238					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AAGAGCTCTTTCTGAGCAGAT	0.348																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(712-714)Tct>Gct		dynein, cytoplasmic 1, intermediate chain 2							27.0	26.0	26.0					2																	172582533		1804	4072	5876	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172582533T>G	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.712T>G	2.37:g.172582533T>G	ENSP00000380308:p.Ser238Ala					DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S238A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212A|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238A	p.S238A			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		9	880	+			238					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.712T>G	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	T	5.513	0.279626	0.10458	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002;ENST00000435234	T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.74;-0.91;-0.76;-0.67;-0.53;-0.51;-0.74;-0.76;-0.67;-0.53;-0.53	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.05230	-0.09	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.003;0.005;0.005;0.005;0.003	T	0.53940	-0.8367	10	0.09590	T	0.72	-18.6181	16.4781	0.84144	0.0:0.0:0.0:1.0	.	230;232;212;212;238	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	A	232;212;238;232;238;230;212;212;232;238;238;230;212	ENSP00000339430:S212A;ENSP00000433791:S238A;ENSP00000263811:S232A;ENSP00000380308:S238A;ENSP00000386522:S230A;ENSP00000423339:S212A;ENSP00000386397:S212A;ENSP00000386591:S232A;ENSP00000386415:S238A;ENSP00000386886:S238A;ENSP00000350692:S230A	ENSP00000263811:S232A	S	+	1	0	DYNC1I2	172290779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.104000	0.57790	2.288000	0.76882	0.528000	0.53228	TCT		0.348	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		10	14	0	0	0	1	0	10	14				
SCN8A	6334	broad.mit.edu	37	12	52200862	52200862	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52200862C>T	ENST00000354534.6	+	27	5770	c.5592C>T	c.(5590-5592)atC>atT	p.I1864I	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Silent_p.I1823I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1864					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGTTGGACATCCTGCGGCAGC	0.557																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5590-5592)atC>atT		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						101.0	108.0	106.0					12																	52200862		2107	4239	6346	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200862C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5592C>T	12.37:g.52200862C>T						SCN8A_ENST00000545061.1_Silent_p.I1823I	p.I1864I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5770	+			1864					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.5592C>T	CCDS44891.1																																																																																				0.557	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		79	99	0	0	0	1	0	79	99				
GRIA3	2892	broad.mit.edu	37	X	122551587	122551587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122551587C>T	ENST00000371251.1	+	11	1887	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	GRIA3_ENST00000541091.1_Missense_Mutation_p.S596F|GRIA3_ENST00000542149.1_Missense_Mutation_p.S612F|GRIA3_ENST00000371256.5_Missense_Mutation_p.S612F|GRIA3_ENST00000264357.5_Missense_Mutation_p.S612F			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	612					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CTTTGGTTTTCCTTGGGTGCC	0.398																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(1834-1836)tCc>tTc		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						101.0	98.0	99.0					X																	122551587		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122551587C>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1835C>T	X.37:g.122551587C>T	ENSP00000360297:p.Ser612Phe					GRIA3_ENST00000371256.5_Missense_Mutation_p.S612F|GRIA3_ENST00000542149.1_Missense_Mutation_p.S612F|GRIA3_ENST00000371251.1_Missense_Mutation_p.S612F|GRIA3_ENST00000541091.1_Missense_Mutation_p.S596F	p.S612F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			11	2127	+			612					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.1835C>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489748	0.84962	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;T	0.97941	-4.62;-4.62;-4.62;-4.62;0.51	5.68	5.68	0.88126	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98909	0.9630	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.85130	0.997;0.996;0.992	D	0.99811	1.1041	10	0.87932	D	0	.	17.6053	0.88036	0.0:1.0:0.0:0.0	.	596;612;612	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	F	612;612;612;612;596	ENSP00000264357:S612F;ENSP00000446146:S612F;ENSP00000360302:S612F;ENSP00000360297:S612F;ENSP00000446440:S596F	ENSP00000264357:S612F	S	+	2	0	GRIA3	122379268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.374000	0.81015	0.600000	0.82982	TCC		0.398	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		82	91	0	0	0	1	0	82	91				
LRP5	4041	broad.mit.edu	37	11	68207318	68207318	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207318C>T	ENST00000294304.7	+	21	4528	c.4422C>T	c.(4420-4422)gaC>gaT	p.D1474D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1474					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTCTACGACCGGAACCACG	0.721																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4420-4422)gaC>gaT		low density lipoprotein receptor-related protein 5							14.0	17.0	16.0					11																	68207318		2191	4284	6475	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68207318C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4422C>T	11.37:g.68207318C>T							p.D1474D	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			21	4528	+			1474					Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.4422C>T	CCDS8181.1																																																																																				0.721	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		5	5	0	0	0	1	0	5	5				
TFDP1	7027	broad.mit.edu	37	13	114294439	114294439	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114294439C>T	ENST00000375370.5	+	12	1302	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L	TFDP1_ENST00000538138.1_Silent_p.L265L|TFDP1_ENST00000544902.1_Silent_p.L335L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	364					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TTGCAGTGACCTGACCAACGG	0.657										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1090-1092)Ctg>Ttg		transcription factor Dp-1							83.0	81.0	82.0					13																	114294439		2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114294439C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1090C>T	13.37:g.114294439C>T		TSP Lung(29;0.18)				TFDP1_ENST00000538138.1_Silent_p.L265L|TFDP1_ENST00000544902.1_Silent_p.L335L	p.L364L	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		12	1302	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	364					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.1090C>T	CCDS9538.1																																																																																				0.657	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		38	53	0	0	0	1	0	38	53				
SMG8	55181	broad.mit.edu	37	17	57290748	57290748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:57290748G>A	ENST00000543872.2	+	4	2828	c.2564G>A	c.(2563-2565)cGa>cAa	p.R855Q	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.R855Q			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	855					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GAAGACTCTCGAGGTCGGAGA	0.463																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2563-2565)cGa>cAa		SMG8 nonsense mediated mRNA decay factor							148.0	148.0	148.0					17																	57290748		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290748G>A	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2564G>A	17.37:g.57290748G>A	ENSP00000438748:p.Arg855Gln					SMG8_ENST00000300917.5_Missense_Mutation_p.R855Q|CTD-2510F5.6_ENST00000577660.1_Intron	p.R855Q			Q8ND04	SMG8_HUMAN			4	2828	+			855					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2564G>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077062	0.94000	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.68181	-0.31;-0.31	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.82688	-0.0333	10	0.72032	D	0.01	-12.4359	19.1378	0.93435	0.0:0.0:1.0:0.0	.	855	Q8ND04	SMG8_HUMAN	Q	855	ENSP00000300917:R855Q;ENSP00000438748:R855Q	ENSP00000300917:R855Q	R	+	2	0	SMG8	54645530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	CGA		0.463	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		52	83	0	0	0	1	0	52	83				
PKHD1	5314	broad.mit.edu	37	6	51924787	51924787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51924787C>T	ENST00000371117.3	-	15	1447	c.1172G>A	c.(1171-1173)tGg>tAg	p.W391*	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W391*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	391					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCCTGAATCCAGAAAGTGTA	0.438																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(1171-1173)tGg>tAg		polycystic kidney and hepatic disease 1 (autosomal recessive)							107.0	95.0	99.0					6																	51924787		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51924787C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1172G>A	6.37:g.51924787C>T	ENSP00000360158:p.Trp391*					PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W391*	p.W391*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			15	1447	-	Lung NSC(77;0.0605)		391					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.1172G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	41	8.872943	0.98986	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6552	0.91450	0.0:1.0:0.0:0.0	.	.	.	.	X	391	.	ENSP00000341097:W391X	W	-	2	0	PKHD1	52032746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.100000	0.64560	2.719000	0.93026	0.650000	0.86243	TGG		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	28	0	0	0	1	0	28	28				
LTF	4057	broad.mit.edu	37	3	46497462	46497462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46497462C>T	ENST00000231751.4	-	4	618	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	LTF_ENST00000417439.1_Missense_Mutation_p.R108Q|LTF_ENST00000426532.2_Missense_Mutation_p.R64Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	108	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ATAGTGAGTTCGTGGCTCTGC	0.537																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(322-324)cGa>cAa		lactotransferrin	Pefloxacin(DB00487)						43.0	41.0	42.0					3																	46497462		2203	4300	6503	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46497462C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.323G>A	3.37:g.46497462C>T	ENSP00000231751:p.Arg108Gln					LTF_ENST00000417439.1_Missense_Mutation_p.R108Q|LTF_ENST00000426532.2_Missense_Mutation_p.R64Q	p.R108Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	4	618	-			108			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.323G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	0.610	-0.825508	0.02734	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	4.75	1.23	0.21249	.	0.697544	0.14762	N	0.299883	T	0.05135	0.0137	N	0.00108	-2.11	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.002	B;B;B	0.08055	0.001;0.003;0.001	T	0.40251	-0.9573	10	0.02654	T	1	-8.2154	8.6347	0.33941	0.0:0.1531:0.0:0.8469	.	108;95;108	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	Q	108;64;108;95;119;64	ENSP00000231751:R108Q;ENSP00000405719:R64Q;ENSP00000405546:R108Q;ENSP00000397427:R95Q;ENSP00000395234:R119Q;ENSP00000400254:R64Q	ENSP00000231751:R108Q	R	-	2	0	LTF	46472466	0.000000	0.05858	0.008000	0.14137	0.728000	0.41692	0.241000	0.18065	0.034000	0.15491	-0.137000	0.14449	CGA		0.537	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		12	12	0	0	0	1	0	12	12				
FOXN3	1112	broad.mit.edu	37	14	89628854	89628854	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628854G>A	ENST00000345097.4	-	7	1493	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	FOXN3_ENST00000555353.1_Silent_p.S437S|FOXN3_ENST00000261302.5_Silent_p.S459S|FOXN3_ENST00000557258.1_Silent_p.S437S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGTGCAGGAGGGACCCTGCCG	0.527																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1375-1377)tcC>tcT		forkhead box N3							70.0	70.0	70.0					14																	89628854		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628854G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1377C>T	14.37:g.89628854G>A						FOXN3_ENST00000557258.1_Silent_p.S437S|FOXN3_ENST00000261302.5_Silent_p.S459S|FOXN3_ENST00000555353.1_Silent_p.S437S	p.S459S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1493	-			459					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.1377C>T	CCDS41977.1																																																																																				0.527	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		34	50	0	0	0	1	0	34	50				
JAKMIP2	9832	broad.mit.edu	37	5	147023758	147023758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023758C>T	ENST00000265272.5	-	7	1554	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E321K|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E363K	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	363						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTATTTTTTCTCTCTGGATT	0.358																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1087-1089)Gaa>Aaa		janus kinase and microtubule interacting protein 2							88.0	87.0	87.0					5																	147023758		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147023758C>T	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1087G>A	5.37:g.147023758C>T	ENSP00000265272:p.Glu363Lys					JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E363K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E321K	p.E363K	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1554	-			363					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1087G>A	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067297	0.93898	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	D;D;D	0.83075	-1.68;-1.68;-1.68	5.48	5.48	0.80851	.	0.095099	0.64402	D	0.000001	T	0.81341	0.4802	M	0.69823	2.125	0.80722	D	1	P;P;P;P	0.40731	0.728;0.728;0.728;0.728	B;B;B;B	0.32980	0.156;0.156;0.156;0.156	T	0.80790	-0.1225	10	0.29301	T	0.29	.	19.7462	0.96252	0.0:1.0:0.0:0.0	.	321;363;363;363	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	K	363;363;321;363	ENSP00000421398:E363K;ENSP00000265272:E363K;ENSP00000328989:E321K	ENSP00000265272:E363K	E	-	1	0	JAKMIP2	147003951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.736000	0.93811	0.655000	0.94253	GAA		0.358	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		24	30	0	0	0	1	0	24	30				
ITPR2	3709	broad.mit.edu	37	12	26589225	26589225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:26589225G>A	ENST00000381340.3	-	48	7114	c.6698C>T	c.(6697-6699)tCc>tTc	p.S2233F		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2233					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAGGTTGAAGGAAATGCTCCC	0.423																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6697-6699)tCc>tTc		inositol 1,4,5-trisphosphate receptor, type 2							64.0	66.0	65.0					12																	26589225		1924	4134	6058	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26589225G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6698C>T	12.37:g.26589225G>A	ENSP00000370744:p.Ser2233Phe						p.S2233F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			48	7114	-	Colorectal(261;0.0847)		2233					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.6698C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810169	0.90707	.	.	ENSG00000123104	ENST00000381340	D	0.92752	-3.1	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.95635	0.8693	10	0.56958	D	0.05	.	18.5208	0.90951	0.0:0.0:1.0:0.0	.	2233	Q14571	ITPR2_HUMAN	F	2233	ENSP00000370744:S2233F	ENSP00000370744:S2233F	S	-	2	0	ITPR2	26480492	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.640000	0.98453	2.679000	0.91253	0.650000	0.86243	TCC		0.423	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	28	0	0	0	1	0	6	28				
ZNF423	23090	broad.mit.edu	37	16	49672020	49672020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:49672020G>A	ENST00000561648.1	-	4	1096	c.1043C>T	c.(1042-1044)cCc>cTc	p.P348L	ZNF423_ENST00000567169.1_Missense_Mutation_p.P231L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P288L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P231L|ZNF423_ENST00000562520.1_Missense_Mutation_p.P288L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P348L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P288L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	348					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTGGAGTCGGGCTGCCGGTG	0.642																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1042-1044)cCc>cTc		zinc finger protein 423							45.0	43.0	44.0					16																	49672020		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672020G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1043C>T	16.37:g.49672020G>A	ENSP00000455426:p.Pro348Leu					ZNF423_ENST00000562520.1_Missense_Mutation_p.P288L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P288L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P288L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P348L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P231L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P231L	p.P348L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1096	-		all_cancers(37;0.0155)	348					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1043C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656087	0.47467	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09817	2.94;3.0	5.0	5.0	0.66597	.	0.052587	0.85682	D	0.000000	T	0.32852	0.0843	M	0.85859	2.78	0.80722	D	1	D	0.55172	0.97	P	0.55667	0.781	T	0.21586	-1.0241	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	348	Q2M1K9	ZN423_HUMAN	L	348;231	ENSP00000262383:P348L;ENSP00000442321:P231L	.	P	-	2	0	ZNF423	48229521	1.000000	0.71417	0.984000	0.44739	0.965000	0.64279	7.863000	0.87023	2.331000	0.79229	0.561000	0.74099	CCC		0.642	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		17	11	0	0	0	1	0	17	11				
CLCNKB	1188	broad.mit.edu	37	1	16383003	16383003	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383003G>A	ENST00000375679.4	+	19	2127	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	CLCNKB_ENST00000375667.3_Splice_Site_p.E502E|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	672	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGGTGGAGGTACCAGGGT	0.627											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.e19+1		chloride channel, voltage-sensitive Kb							145.0	136.0	139.0					1																	16383003		2203	4300	6503	SO:0001630	splice_region_variant	1188							g.chr1:16383003G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.2016+1G>A	1.37:g.16383003G>A			OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKB_ENST00000375667.3_Splice_Site_p.E502_splice	p.E672_splice	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	19	2127	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Splice_Site	SNP	ENST00000375679.4	37	c.2016_splice	CCDS168.1																																																																																				0.627	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	Silent	56	65	0	0	0	1	0	56	65				
HEPHL1	341208	broad.mit.edu	37	11	93821974	93821974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93821974C>T	ENST00000315765.9	+	12	2142	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	712	Plastocyanin-like 4.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGGCATGGGTCAGATCTATGA	0.502																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2134-2136)Cag>Tag		hephaestin-like 1							58.0	58.0	58.0					11																	93821974		1942	4148	6090	SO:0001587	stop_gained	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93821974C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2134C>T	11.37:g.93821974C>T	ENSP00000313699:p.Gln712*						p.Q712*	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			12	2142	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	712			Plastocyanin-like 4.		Q3C1W7	Nonsense_Mutation	SNP	ENST00000315765.9	37	c.2134C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	38	7.073751	0.98044	.	.	ENSG00000181333	ENST00000315765	.	.	.	5.53	5.53	0.82687	.	0.103747	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.4662	0.94943	0.0:1.0:0.0:0.0	.	.	.	.	X	712	.	ENSP00000313699:Q712X	Q	+	1	0	HEPHL1	93461622	0.997000	0.39634	0.961000	0.40146	0.792000	0.44763	2.149000	0.42244	2.602000	0.87976	0.455000	0.32223	CAG		0.502	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		15	23	0	0	0	1	0	15	23				
UNC5D	137970	broad.mit.edu	37	8	35402036	35402036	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35402036C>T	ENST00000404895.2	+	2	431				UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000453357.2_Missense_Mutation_p.S24F|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						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)		TTGGACTTTTCCTCCCAAACT	0.403																																						ENST00000453357.2																			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.(70-72)tCc>tTc		unc-5 homolog D (C. elegans)							129.0	124.0	126.0					8																	35402036		2203	4300	6503	SO:0001627	intron_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35402036C>T	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.104-4774C>T	8.37:g.35402036C>T						UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron	p.S24F			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	1	127	+			0					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.71C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248586	0.10130	.	.	ENSG00000156687	ENST00000453357	T	0.55234	0.53	1.92	1.03	0.20045	.	2.152780	0.02197	N	0.061907	T	0.39835	0.1093	.	.	.	0.09310	N	1	B	0.31519	0.327	B	0.25987	0.065	T	0.34576	-0.9823	9	0.66056	D	0.02	.	4.4319	0.11531	0.0:0.8:0.0:0.2	.	24	Q6UXZ4-2	.	F	24	ENSP00000394303:S24F	ENSP00000394303:S24F	S	+	2	0	UNC5D	35521578	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.680000	0.05197	0.391000	0.25143	0.555000	0.69702	TCC		0.403	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			24	35	0	0	0	1	0	24	35				
MUC16	94025	broad.mit.edu	37	19	9062672	9062672	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062672G>A	ENST00000397910.4	-	3	24977	c.24774C>T	c.(24772-24774)tcC>tcT	p.S8258S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCACAGAGGATTGACTAG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24772-24774)tcC>tcT		mucin 16, cell surface associated							72.0	76.0	75.0					19																	9062672		2042	4185	6227	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062672G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24774C>T	19.37:g.9062672G>A							p.S8258S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24977	-			8260			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.24774C>T	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	13	0	0	0	1	0	16	13				
UBE3B	89910	broad.mit.edu	37	12	109972428	109972428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109972428G>A	ENST00000342494.3	+	28	3643	c.3048G>A	c.(3046-3048)cgG>cgA	p.R1016R	UBE3B_ENST00000434735.2_Silent_p.R1016R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1016	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCGTCCTCCGGGGCTTCTTCA	0.637																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(3046-3048)cgG>cgA		ubiquitin protein ligase E3B							47.0	47.0	47.0					12																	109972428		2203	4300	6503	SO:0001819	synonymous_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972428G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3048G>A	12.37:g.109972428G>A						UBE3B_ENST00000434735.2_Silent_p.R1016R	p.R1016R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			28	3643	+			1016			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	c.3048G>A	CCDS9129.1																																																																																				0.637	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		57	41	0	0	0	1	0	57	41				
IL7R	3575	broad.mit.edu	37	5	35876316	35876316	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35876316C>T	ENST00000303115.3	+	8	1237	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	370					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCTCACATGCCTGGCTGGGAA	0.547			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1108-1110)Ctg>Ttg		interleukin 7 receptor							94.0	87.0	90.0					5																	35876316		2203	4300	6503	SO:0001819	synonymous_variant	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876316C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1108C>T	5.37:g.35876316C>T						IL7R_ENST00000343305.4_3'UTR	p.L370L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1237	+	all_lung(31;0.00015)		370					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	ENST00000303115.3	37	c.1108C>T	CCDS3911.1																																																																																				0.547	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			17	37	0	0	0	1	0	17	37				
RANBP2	5903	broad.mit.edu	37	2	109399034	109399034	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109399034G>T	ENST00000283195.6	+	28	9211	c.9085G>T	c.(9085-9087)Gta>Tta	p.V3029L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3029	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AACTAAAGAAGTAGCTGATTG	0.383																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(9085-9087)Gta>Tta		RAN binding protein 2							52.0	53.0	53.0					2																	109399034		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109399034G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.9085G>T	2.37:g.109399034G>T	ENSP00000283195:p.Val3029Leu						p.V3029L	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			28	9211	+			3029			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.9085G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	1.334	-0.595975	0.03771	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.41400	1.0	5.83	4.59	0.56863	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.12732	0.0309	N	0.02129	-0.67	0.24090	N	0.995914	B	0.02656	0.0	B	0.04013	0.001	T	0.37174	-0.9717	9	0.02654	T	1	-5.3369	2.2646	0.04076	0.5621:0.1242:0.0828:0.2309	.	3029	P49792	RBP2_HUMAN	L	2053;3029	ENSP00000283195:V3029L	ENSP00000283195:V3029L	V	+	1	0	RANBP2	108765466	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	1.823000	0.39062	0.921000	0.36994	-0.253000	0.11424	GTA		0.383	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		21	27	1	0	8.10497e-08	1	8.16116e-08	21	27				
LGI4	163175	broad.mit.edu	37	19	35625002	35625002	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35625002G>A	ENST00000310123.3	-	2	696	c.177C>T	c.(175-177)ctC>ctT	p.L59L	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000591633.1_Silent_p.L59L|LGI4_ENST00000392225.3_Silent_p.L59L	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	59					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CCGTCCTGACGAGTGAGCTGG	0.617																																						ENST00000392225.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(175-177)ctC>ctT		leucine-rich repeat LGI family, member 4							64.0	52.0	56.0					19																	35625002		2193	4293	6486	SO:0001819	synonymous_variant	163175					extracellular region		g.chr19:35625002G>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.177C>T	19.37:g.35625002G>A						LGI4_ENST00000591633.1_Silent_p.L59L|LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Silent_p.L59L	p.L59L			Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		2	696	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		59					B2RN53|B9EGS7|Q5M8T1	Silent	SNP	ENST00000310123.3	37	c.177C>T	CCDS12444.1																																																																																				0.617	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			4	4	0	0	0	1	0	4	4				
ITGAM	3684	broad.mit.edu	37	16	31332936	31332936	+	Missense_Mutation	SNP	C	C	T	rs372150584		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31332936C>T	ENST00000287497.8	+	16	2065	c.1990C>T	c.(1990-1992)Cgg>Tgg	p.R664W	ITGAM_ENST00000544665.3_Missense_Mutation_p.R665W			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21535	0.0		0.0	False		,,,				2504	0.0					ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1993-1995)Cgg>Tgg		integrin, alpha M (complement component 3 receptor 3 subunit)		C	TRP/ARG,TRP/ARG	1,4307		0,1,2153	103.0	109.0	107.0		1990,1993	0.3	0.0	16		107	1,8553		0,1,4276	no	missense,missense	ITGAM	NM_000632.3,NM_001145808.1	101,101	0,2,6429	TT,TC,CC		0.0117,0.0232,0.0155	possibly-damaging,possibly-damaging	664/1153,665/1154	31332936	2,12860	2154	4277	6431	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332936C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1990C>T	16.37:g.31332936C>T	ENSP00000287497:p.Arg664Trp					ITGAM_ENST00000287497.8_Missense_Mutation_p.R664W	p.R665W	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			16	2064	+			664					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1993C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345187	0.61073	2.32E-4	1.17E-4	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.47177	0.85;0.85	4.83	0.332	0.15938	Integrin alpha-2 (1);	.	.	.	.	T	0.43678	0.1258	M	0.72118	2.19	0.09310	N	1	P;P;P	0.41008	0.735;0.534;0.534	B;B;B	0.34652	0.187;0.132;0.132	T	0.28235	-1.0050	9	0.49607	T	0.09	.	11.7557	0.51874	0.6122:0.3878:0.0:0.0	.	70;664;664	B3KXM6;Q4VAK1;P11215	.;.;ITAM_HUMAN	W	665;664	ENSP00000441691:R665W;ENSP00000287497:R664W	ENSP00000287497:R664W	R	+	1	2	ITGAM	31240437	0.005000	0.15991	0.018000	0.16275	0.976000	0.68499	-0.025000	0.12413	-0.063000	0.13065	0.655000	0.94253	CGG		0.527	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		30	46	0	0	0	1	0	30	46				
FLNB	2317	broad.mit.edu	37	3	58090940	58090940	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:58090940C>T	ENST00000295956.4	+	11	1909	c.1744C>T	c.(1744-1746)Ctg>Ttg	p.L582L	FLNB_ENST00000358537.3_Silent_p.L582L|FLNB_ENST00000419752.2_Silent_p.L413L|FLNB_ENST00000357272.4_Silent_p.L582L|FLNB_ENST00000429972.2_Silent_p.L582L|FLNB_ENST00000348383.5_Silent_p.L582L|FLNB_ENST00000490882.1_Silent_p.L582L|FLNB_ENST00000493452.1_Silent_p.L413L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	582					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTGGGGTCTCTGGGTAAGTG	0.587																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(1744-1746)Ctg>Ttg		filamin B, beta							83.0	85.0	84.0					3																	58090940		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58090940C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1744C>T	3.37:g.58090940C>T						FLNB_ENST00000295956.4_Silent_p.L582L|FLNB_ENST00000419752.2_Silent_p.L413L|FLNB_ENST00000358537.3_Silent_p.L582L|FLNB_ENST00000348383.5_Silent_p.L582L|FLNB_ENST00000490882.1_Silent_p.L582L|FLNB_ENST00000429972.2_Silent_p.L582L|FLNB_ENST00000493452.1_Silent_p.L413L	p.L582L			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	11	1909	+			582					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.1744C>T	CCDS2885.1																																																																																				0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		21	36	0	0	0	1	0	21	36				
SLCO1C1	53919	broad.mit.edu	37	12	20876184	20876184	+	Silent	SNP	G	G	A	rs188644400		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20876184G>A	ENST00000266509.2	+	9	1550	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	SLCO1C1_ENST00000381552.1_Silent_p.V394V|SLCO1C1_ENST00000545102.1_Silent_p.V276V|SLCO1C1_ENST00000540354.1_Silent_p.V345V|SLCO1C1_ENST00000545604.1_Silent_p.V394V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	394					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCAACTTTGTGATCGGTATGC	0.458																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1180-1182)gtG>gtA		solute carrier organic anion transporter family, member 1C1							143.0	124.0	130.0					12																	20876184		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20876184G>A	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1182G>A	12.37:g.20876184G>A						SLCO1C1_ENST00000266509.2_Silent_p.V394V|SLCO1C1_ENST00000540354.1_Silent_p.V345V|SLCO1C1_ENST00000545604.1_Silent_p.V394V|SLCO1C1_ENST00000545102.1_Silent_p.V276V	p.V394V			Q9NYB5	SO1C1_HUMAN			9	1550	+	Esophageal squamous(101;0.149)		394					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1182G>A	CCDS8683.1																																																																																				0.458	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		27	40	0	0	0	1	0	27	40				
MAP9	79884	broad.mit.edu	37	4	156281504	156281504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:156281504G>A	ENST00000311277.4	-	7	1129	c.866C>T	c.(865-867)tCa>tTa	p.S289L	AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608762.1_RNA|MAP9_ENST00000515654.1_Intron|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	289					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGCTGAAAATGAATTCTCTTT	0.363																																						ENST00000311277.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(865-867)tCa>tTa		microtubule-associated protein 9							123.0	110.0	114.0					4																	156281504		2203	4299	6502	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156281504G>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.866C>T	4.37:g.156281504G>A	ENSP00000310593:p.Ser289Leu					AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Intron	p.S289L	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	7	1129	-	all_hematologic(180;0.24)	Renal(120;0.0458)	289					Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.866C>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.507918	0.44558	.	.	ENSG00000164114	ENST00000311277;ENST00000433024;ENST00000393836	T;T	0.47177	1.61;0.85	5.2	4.36	0.52297	.	0.393277	0.22617	N	0.057742	T	0.64821	0.2633	M	0.69823	2.125	0.28726	N	0.90275	D;D	0.76494	0.959;0.999	P;D	0.80764	0.675;0.994	T	0.61691	-0.7011	10	0.87932	D	0	-0.9484	10.1405	0.42732	0.0933:0.0:0.9067:0.0	.	289;289	B9EJB6;Q49MG5	.;MAP9_HUMAN	L	289;288;289	ENSP00000310593:S289L;ENSP00000394048:S288L	ENSP00000310593:S289L	S	-	2	0	MAP9	156500954	0.027000	0.19231	0.383000	0.26132	0.198000	0.23893	1.517000	0.35867	1.321000	0.45227	0.591000	0.81541	TCA		0.363	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		8	30	0	0	0	1	0	8	30				
GRK6	2870	broad.mit.edu	37	5	176863228	176863228	+	Silent	SNP	C	C	T	rs201095542		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176863228C>T	ENST00000355472.5	+	12	1380	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000528793.1_Silent_p.V404V|GRK6_ENST00000355958.5_Silent_p.V404V|GRK6_ENST00000507633.1_Silent_p.V404V|GRK6_ENST00000393576.3_Silent_p.V370V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	404	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGGAGGTCCCCGAGGAGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		12754	0.001		0.0	False		,,,				2504	0.0					ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1210-1212)gtC>gtT		G protein-coupled receptor kinase 6							63.0	75.0	71.0					5																	176863228		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176863228C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1212C>T	5.37:g.176863228C>T						GRK6_ENST00000528793.1_Silent_p.V404V|GRK6_ENST00000355958.5_Silent_p.V404V|GRK6_ENST00000393576.3_Silent_p.V370V|GRK6_ENST00000507633.1_Silent_p.V404V	p.V404V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1380	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	404			Protein kinase.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.1212C>T	CCDS34303.1																																																																																				0.632	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		25	46	0	0	0	1	0	25	46				
TMEM132B	114795	broad.mit.edu	37	12	125811183	125811183	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125811183C>A	ENST00000299308.3	+	1	22	c.14C>A	c.(13-15)gCa>gAa	p.A5E	TMEM132B_ENST00000418253.2_Intron	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	5						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGGTGCAGCATCCAGAATG	0.582																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(13-15)gCa>gAa		transmembrane protein 132B							36.0	39.0	38.0					12																	125811183		1970	4170	6140	SO:0001583	missense	114795					integral to membrane		g.chr12:125811183C>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.14C>A	12.37:g.125811183C>A	ENSP00000299308:p.Ala5Glu					TMEM132B_ENST00000418253.2_Intron	p.A5E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	1	22	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		5					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.14C>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377612	0.24944	.	.	ENSG00000139364	ENST00000299308	T	0.44083	0.93	3.38	-6.76	0.01732	.	.	.	.	.	T	0.18964	0.0455	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.28364	-1.0046	9	0.56958	D	0.05	.	7.4273	0.27107	0.0:0.3936:0.413:0.1934	.	5	Q14DG7	T132B_HUMAN	E	5	ENSP00000299308:A5E	ENSP00000299308:A5E	A	+	2	0	TMEM132B	124377136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.605000	0.05661	-1.889000	0.01112	-0.378000	0.06908	GCA		0.582	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		8	15	1	0	0.000274275	1	0.000275016	8	15				
LRP1B	53353	broad.mit.edu	37	2	141055433	141055433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141055433C>T	ENST00000389484.3	-	84	13882	c.12911G>A	c.(12910-12912)gGa>gAa	p.G4304E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4304	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCTGGTTTCCAGCAGTCAC	0.498										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12910-12912)gGa>gAa		low density lipoprotein receptor-related protein 1B							150.0	154.0	153.0					2																	141055433		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141055433C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12911G>A	2.37:g.141055433C>T	ENSP00000374135:p.Gly4304Glu	TSP Lung(27;0.18)					p.G4304E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	84	13882	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4304			EGF-like 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12911G>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.403953|5.403953	0.96051|0.96051	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|D	.|0.91521	.|-2.86	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94195|0.94195	0.8137|0.8137	L|L	0.49513|0.49513	1.565|1.565	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.92441|0.92441	0.5962|0.5962	5|10	.|0.38643	.|T	.|0.18	.|.	20.6634|20.6634	0.99662|0.99662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4304	.|Q9NZR2	.|LRP1B_HUMAN	K|E	536;36|4304;4242	.|ENSP00000374135:G4304E	.|ENSP00000374135:G4304E	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140771903|140771903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.785000|7.785000	0.85724|0.85724	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.498	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		61	101	0	0	0	1	0	61	101				
NUP210L	91181	broad.mit.edu	37	1	154099876	154099876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154099876C>T	ENST00000368559.3	-	9	1167	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G366R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	366					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATCGGTTTCCAGGTTGGACA	0.358																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1096-1098)Gga>Aga		nucleoporin 210kDa-like							76.0	70.0	72.0					1																	154099876		1821	4086	5907	SO:0001583	missense	91181					integral to membrane		g.chr1:154099876C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1096G>A	1.37:g.154099876C>T	ENSP00000357547:p.Gly366Arg					NUP210L_ENST00000271854.3_Missense_Mutation_p.G366R	p.G366R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		9	1167	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		366					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1096G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137684	0.77775	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05382	3.45;3.45	4.44	4.44	0.53790	.	0.293466	0.25291	N	0.031734	T	0.13543	0.0328	M	0.72118	2.19	0.47441	D	0.999426	D;D	0.69078	0.997;0.99	P;P	0.61722	0.893;0.835	T	0.00770	-1.1573	10	0.54805	T	0.06	-2.6443	15.0178	0.71600	0.0:1.0:0.0:0.0	.	366;366	E7EP56;Q5VU65	.;P210L_HUMAN	R	366	ENSP00000357547:G366R;ENSP00000271854:G366R	ENSP00000271854:G366R	G	-	1	0	NUP210L	152366500	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	5.178000	0.65037	2.302000	0.77476	0.313000	0.20887	GGA		0.358	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		16	17	0	0	0	1	0	16	17				
ABCC1	4363	broad.mit.edu	37	16	16218717	16218717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218717C>T	ENST00000399410.3	+	25	3837	c.3662C>T	c.(3661-3663)tCc>tTc	p.S1221F	ABCC1_ENST00000349029.5_Missense_Mutation_p.S1106F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1162F|ABCC1_ENST00000399408.2_Missense_Mutation_p.S1231F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1165F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1221F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GCGGTGATCTCCAGGCACAGC	0.552																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3691-3693)tCc>tTc		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						98.0	109.0	105.0					16																	16218717		2124	4244	6368	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16218717C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3662C>T	16.37:g.16218717C>T	ENSP00000382342:p.Ser1221Phe					ABCC1_ENST00000349029.5_Missense_Mutation_p.S1106F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1221F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1165F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1221F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1162F	p.S1231F			P33527	MRP1_HUMAN			26	3867	+			1221			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3692C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350421	0.24512	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.04	5.04	0.67666	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.162937	0.56097	D	0.000038	D	0.92084	0.7491	L	0.48642	1.525	0.31837	N	0.624002	B;P;D;D;D;D	0.60160	0.055;0.942;0.977;0.987;0.981;0.977	B;P;D;D;D;D	0.67725	0.037;0.847;0.921;0.917;0.953;0.921	D	0.92147	0.5725	10	0.48119	T	0.1	-30.9789	17.4597	0.87617	0.0:1.0:0.0:0.0	.	1106;1221;1165;1162;1221;1231	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	F	1221;1231;1165;1162;1221;1106;905	ENSP00000382342:S1221F;ENSP00000382340:S1231F;ENSP00000263019:S1165F;ENSP00000263017:S1162F;ENSP00000263014:S1221F;ENSP00000263016:S1106F	ENSP00000263014:S1221F	S	+	2	0	ABCC1	16126218	0.803000	0.28956	1.000000	0.80357	0.048000	0.14542	1.217000	0.32455	2.363000	0.80096	0.650000	0.86243	TCC		0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		22	40	0	0	0	1	0	22	40				
SLC6A6	6533	broad.mit.edu	37	3	14508063	14508063	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14508063C>T	ENST00000454876.2	+	7	1101	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	SLC6A6_ENST00000360861.3_Silent_p.L258L			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	258					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CGCCATGCTCCTGGTGCTGCT	0.597																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(772-774)Ctg>Ttg		solute carrier family 6 (neurotransmitter transporter), member 6							111.0	90.0	97.0					3																	14508063		2203	4300	6503	SO:0001819	synonymous_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14508063C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.772C>T	3.37:g.14508063C>T						SLC6A6_ENST00000360861.3_Silent_p.L258L	p.L258L			P31641	SC6A6_HUMAN			7	1101	+			258					B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	ENST00000454876.2	37	c.772C>T	CCDS33705.1																																																																																				0.597	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		43	73	0	0	0	1	0	43	73				
ZNF678	339500	broad.mit.edu	37	1	227842474	227842474	+	Missense_Mutation	SNP	C	C	T	rs267598396		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:227842474C>T	ENST00000343776.5	+	4	868	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	ZNF678_ENST00000397097.3_Missense_Mutation_p.H230Y|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAGAAAATTCATACTGGAGA	0.343																																						ENST00000343776.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(523-525)Cat>Tat		zinc finger protein 678							76.0	90.0	86.0					1																	227842474		2203	4297	6500	SO:0001583	missense	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842474C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.523C>T	1.37:g.227842474C>T	ENSP00000344828:p.His175Tyr					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H230Y	p.H175Y			F5GXA7	F5GXA7_HUMAN			4	868	+		Prostate(94;0.0885)	230					Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37	c.523C>T		.	.	.	.	.	.	.	.	.	.	C	14.98	2.697899	0.48307	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.67523	-0.27;-0.27	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83124	0.5186	H	0.96430	3.82	0.34845	D	0.741035	D	0.61697	0.99	P	0.61800	0.894	D	0.86279	0.1666	9	0.59425	D	0.04	.	8.5465	0.33424	0.0:1.0:0.0:0.0	.	175	Q5SXM1	ZN678_HUMAN	Y	175;230	ENSP00000344828:H175Y;ENSP00000440403:H230Y	ENSP00000344828:H175Y	H	+	1	0	ZNF678	225909097	0.981000	0.34729	0.038000	0.18304	0.034000	0.12701	2.942000	0.49018	0.596000	0.29794	0.603000	0.83216	CAT		0.343	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		24	67	0	0	0	1	0	24	67				
UPK2	7379	broad.mit.edu	37	11	118828850	118828850	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118828850G>A	ENST00000264031.2	+	5	497	c.462G>A	c.(460-462)ggG>ggA	p.G154G	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	154					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCCGCACAGGGGGCATGGTGG	0.617																																						ENST00000264031.2																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(460-462)ggG>ggA		uroplakin 2							118.0	111.0	113.0					11																	118828850		2200	4295	6495	SO:0001819	synonymous_variant	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118828850G>A	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.462G>A	11.37:g.118828850G>A						UPK2_ENST00000534788.1_3'UTR	p.G154G	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	5	497	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	154					B0YJ92|O00457|Q53YV0	Silent	SNP	ENST00000264031.2	37	c.462G>A	CCDS8404.1																																																																																				0.617	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	NM_006760		31	51	0	0	0	1	0	31	51				
TTN	7273	broad.mit.edu	37	2	179606172	179606172	+	Missense_Mutation	SNP	C	C	T	rs186624523	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606172C>T	ENST00000591111.1	-	46	11061	c.10837G>A	c.(10837-10839)Gaa>Aaa	p.E3613K	TTN_ENST00000342175.6_Missense_Mutation_p.E3759K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E3930K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3692K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3567K			Q8WZ42	TITIN_HUMAN	titin	13919					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)			CCCAGCTTTTCCAGAGATTTT	0.438													C|||	4	0.000798722	0.0	0.0029	5008	,	,		21161	0.0		0.002	False		,,,				2504	0.0					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.(11788-11790)Gaa>Aaa		titin		C	LYS/GLU,,LYS/GLU,LYS/GLU	0,3812		0,0,1906	158.0	153.0	155.0		10699,,11074,11275	3.0	0.1	2		155	6,8212		0,6,4103	yes	missense,intron,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,,56,56	0,6,6009	TT,TC,CC		0.073,0.0,0.0499	,,,	3567/26927,,3692/27052,3759/27119	179606172	6,12024	1906	4109	6015	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606172C>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.10837G>A	2.37:g.179606172C>T	ENSP00000465570:p.Glu3613Lys					TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3613K|TTN_ENST00000359218.5_Missense_Mutation_p.E3692K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3759K|TTN_ENST00000460472.2_Missense_Mutation_p.E3567K|TTN-AS1_ENST00000585451.1_RNA	p.E3930K	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)		48	12012	-			3613					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.11788G>A		4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	8.158	0.788839	0.16258	0.0	7.3E-4	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60797	0.18;0.17;0.16	5.87	3.02	0.34903	.	.	.	.	.	T	0.43389	0.1245	M	0.62154	1.92	0.22940	N	0.998533	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.48502	-0.9030	9	0.87932	D	0	.	5.5875	0.17283	0.0:0.6409:0.1727:0.1864	.	3567;3692;3759	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3567;3759;3692;3567	ENSP00000434586:E3567K;ENSP00000340554:E3759K;ENSP00000352154:E3692K	ENSP00000340554:E3759K	E	-	1	0	TTN	179314417	0.038000	0.19896	0.132000	0.22025	0.068000	0.16541	0.562000	0.23531	0.433000	0.26313	-0.136000	0.14681	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	93	0	0	0	1	0	63	93				
TRIM56	81844	broad.mit.edu	37	7	100732060	100732060	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100732060C>T	ENST00000306085.6	+	3	1764	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	489					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCTCCTCCCCAGACCCATCT	0.622																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1465-1467)ccC>ccT		tripartite motif containing 56							65.0	74.0	71.0					7																	100732060		1930	4129	6059	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732060C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1467C>T	7.37:g.100732060C>T							p.P489P	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	1764	+	Lung NSC(181;0.136)|all_lung(186;0.182)		489					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.1467C>T	CCDS43625.1																																																																																				0.622	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		81	97	0	0	0	1	0	81	97				
ZNF646	9726	broad.mit.edu	37	16	31089073	31089073	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089073C>T	ENST00000394979.2	+	1	1851	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	ZNF646_ENST00000300850.5_Silent_p.H476H			O15015	ZN646_HUMAN	zinc finger protein 646	476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTACCGCCACCGGGGGAGCC	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1426-1428)caC>caT		zinc finger protein 646							74.0	74.0	74.0					16																	31089073		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089073C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1428C>T	16.37:g.31089073C>T						ZNF646_ENST00000300850.5_Silent_p.H476H	p.H476H			O15015	ZN646_HUMAN			1	1851	+			476					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.1428C>T																																																																																					0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		17	17	0	0	0	1	0	17	17				
PLEKHA6	22874	broad.mit.edu	37	1	204237425	204237425	+	Missense_Mutation	SNP	G	G	A	rs369254044		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204237425G>A	ENST00000272203.3	-	4	434	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R40C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	40										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACGGCTTTGCGGGCTGTGCGA	0.607																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(118-120)Cgc>Tgc		pleckstrin homology domain containing, family A member 6		G	CYS/ARG	0,4406		0,0,2203	80.0	68.0	72.0		118	5.6	1.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHA6	NM_014935.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	40/1049	204237425	1,13005	2203	4300	6503	SO:0001583	missense	22874							g.chr1:204237425G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.118C>T	1.37:g.204237425G>A	ENSP00000272203:p.Arg40Cys					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R40C	p.R40C	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		4	434	-	all_cancers(21;0.0222)|Breast(84;0.179)		40					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.118C>T	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542429	0.65198	0.0	1.16E-4	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12361	2.69;2.69	5.58	5.58	0.84498	.	0.169716	0.43747	D	0.000535	T	0.16685	0.0401	M	0.63428	1.95	0.53005	D	0.999968	D	0.60575	0.988	B	0.40565	0.333	T	0.01259	-1.1403	10	0.87932	D	0	-23.3675	13.222	0.59894	0.0:0.0:0.8412:0.1588	.	40	Q9Y2H5	PKHA6_HUMAN	C	40	ENSP00000272203:R40C;ENSP00000402046:R40C	ENSP00000272203:R40C	R	-	1	0	PLEKHA6	202504048	1.000000	0.71417	0.997000	0.53966	0.653000	0.38743	3.258000	0.51507	2.611000	0.88343	0.591000	0.81541	CGC		0.607	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		7	18	0	0	0	1	0	7	18				
ZMYM5	9205	broad.mit.edu	37	13	20425891	20425891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:20425891G>A	ENST00000337963.4	-	3	694	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZMYM5_ENST00000382905.4_Missense_Mutation_p.P144S|ZMYM5_ENST00000382907.4_Missense_Mutation_p.P144S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	144						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTAGTTCCAGGAAGTCCCCAT	0.373																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(430-432)Cct>Tct		zinc finger, MYM-type 5							84.0	88.0	87.0					13																	20425891		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20425891G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.430C>T	13.37:g.20425891G>A	ENSP00000337034:p.Pro144Ser					ZMYM5_ENST00000382907.4_Missense_Mutation_p.P144S|ZMYM5_ENST00000382905.4_Missense_Mutation_p.P144S	p.P144S	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	694	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	144					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.430C>T		.	.	.	.	.	.	.	.	.	.	G	8.683	0.905540	0.17760	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	4.41	0.563	0.17296	.	.	.	.	.	T	0.27663	0.0680	M	0.73962	2.25	0.20638	N	0.999872	B;B;B	0.14438	0.01;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.32903	-0.9889	9	0.31617	T	0.26	-0.0172	2.35	0.04281	0.1465:0.1284:0.4605:0.2646	.	144;144;144	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	S	144;134;144;144	ENSP00000337034:P144S;ENSP00000445779:P134S;ENSP00000372364:P144S;ENSP00000372361:P144S	ENSP00000337034:P144S	P	-	1	0	ZMYM5	19323891	1.000000	0.71417	0.096000	0.21009	0.787000	0.44495	1.239000	0.32719	-0.027000	0.13873	-0.332000	0.08345	CCT		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		32	61	0	0	0	1	0	32	61				
IQUB	154865	broad.mit.edu	37	7	123092827	123092827	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092827C>T	ENST00000466202.1	-	13	2922	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	IQUB_ENST00000324698.6_Silent_p.K782K	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATTCTATAATCTTAGGTGTTG	0.403																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(2344-2346)aaG>aaA		IQ motif and ubiquitin domain containing							131.0	126.0	127.0					7																	123092827		2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123092827C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2346G>A	7.37:g.123092827C>T						IQUB_ENST00000324698.6_Silent_p.K782K	p.K782K			Q8NA54	IQUB_HUMAN			13	2922	-			782					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.2346G>A	CCDS5787.1																																																																																				0.403	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		25	31	0	0	0	1	0	25	31				
CCT6B	10693	broad.mit.edu	37	17	33269644	33269644	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:33269644G>A	ENST00000314144.5	-	7	859	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CCT6B_ENST00000421975.3_Silent_p.F211F|CCT6B_ENST00000436961.3_Silent_p.F203F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	248					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTATAAAAGAAACCAGAGT	0.328																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(742-744)ttC>ttT		chaperonin containing TCP1, subunit 6B (zeta 2)							48.0	47.0	47.0					17																	33269644		2199	4293	6492	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33269644G>A	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.744C>T	17.37:g.33269644G>A						CCT6B_ENST00000421975.3_Silent_p.F211F|CCT6B_ENST00000436961.3_Silent_p.F203F	p.F248F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			7	859	-		Ovarian(249;0.17)	248					B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.744C>T	CCDS32617.1																																																																																				0.328	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		17	28	0	0	0	1	0	17	28				
CACNA2D4	93589	broad.mit.edu	37	12	2027518	2027518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027518G>A	ENST00000382722.5	-	1	484	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P41L|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCAGGCCACGGGCATTGGCTG	0.652																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(121-123)cCc>cTc		calcium channel, voltage-dependent, alpha 2/delta subunit 4							18.0	23.0	21.0					12																	2027518		1913	4132	6045	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2027518G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.122C>T	12.37:g.2027518G>A	ENSP00000372169:p.Pro41Leu					CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P41L|RP5-1096D14.3_ENST00000544163.1_RNA	p.P41L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	1	484	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	41					Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.122C>T	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358725	0.24598	.	.	ENSG00000151062	ENST00000280663;ENST00000382722	T	0.05996	3.36	4.79	2.5	0.30297	.	1.066130	0.07288	N	0.872003	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39881	-0.9592	10	0.44086	T	0.13	.	4.5795	0.12252	0.3767:0.0:0.6233:0.0	.	41;41	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	L	41	ENSP00000372169:P41L	ENSP00000280663:P41L	P	-	2	0	CACNA2D4	1897779	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	1.708000	0.37899	0.941000	0.37499	-0.377000	0.06932	CCC		0.652	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			15	4	0	0	0	1	0	15	4				
TCEB3B	51224	broad.mit.edu	37	18	44560513	44560513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:44560513C>T	ENST00000332567.4	-	1	1475	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	375					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCGAATTCCTCAGCCATA	0.517																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1123-1125)Gaa>Aaa		transcription elongation factor B polypeptide 3B (elongin A2)							89.0	85.0	86.0					18																	44560513		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560513C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1123G>A	18.37:g.44560513C>T	ENSP00000331302:p.Glu375Lys					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.E375K	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1475	-			375					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1123G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144805	0.37825	.	.	ENSG00000206181	ENST00000332567	T	0.08458	3.09	2.08	-1.09	0.09904	.	0.175453	0.25786	U	0.028305	T	0.06826	0.0174	L	0.34521	1.04	0.09310	N	1	P	0.48911	0.917	P	0.51742	0.678	T	0.26052	-1.0114	10	0.17369	T	0.5	.	0.7604	0.01006	0.242:0.3563:0.2378:0.1639	.	375	Q8IYF1	ELOA2_HUMAN	K	375	ENSP00000331302:E375K	ENSP00000331302:E375K	E	-	1	0	TCEB3B	42814511	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.008000	0.12788	-0.306000	0.08818	0.561000	0.74099	GAA		0.517	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		27	44	0	0	0	1	0	27	44				
ARMC3	219681	broad.mit.edu	37	10	23321901	23321901	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23321901G>A	ENST00000298032.5	+	18	2442	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	ARMC3_ENST00000376528.4_Silent_p.P523P|ARMC3_ENST00000409983.3_Silent_p.P779P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	786						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTTATACCGATTGGACATG	0.353																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2356-2358)ccG>ccA		armadillo repeat containing 3							118.0	112.0	114.0					10																	23321901		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23321901G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2358G>A	10.37:g.23321901G>A						ARMC3_ENST00000409983.3_Silent_p.P779P|ARMC3_ENST00000376528.4_Silent_p.P523P	p.P786P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			18	2442	+			786					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.2358G>A	CCDS7142.1																																																																																				0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		23	35	0	0	0	1	0	23	35				
DACH2	117154	broad.mit.edu	37	X	85403797	85403797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85403797G>A	ENST00000373125.4	+	1	173	c.173G>A	c.(172-174)gGc>gAc	p.G58D	DACH2_ENST00000373131.1_Missense_Mutation_p.G58D	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	58	Poly-Gly.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GCCGGAGGCGGCGGCAGGGGC	0.572																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(172-174)gGc>gAc		dachshund homolog 2 (Drosophila)							73.0	56.0	61.0					X																	85403797		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85403797G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.173G>A	X.37:g.85403797G>A	ENSP00000362217:p.Gly58Asp					DACH2_ENST00000373125.4_Missense_Mutation_p.G58D	p.G58D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	336	+			58			Poly-Gly.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.173G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	7.442	0.640882	0.14386	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.82984	-1.67;-1.67	2.74	0.773	0.18516	DNA binding domain, putative (1);Transforming protein Ski (1);	0.000000	0.34555	U	0.003867	T	0.74619	0.3740	L	0.51422	1.61	0.30669	N	0.753605	B;B	0.25441	0.103;0.126	B;B	0.26094	0.058;0.066	T	0.65635	-0.6120	10	0.33940	T	0.23	.	8.1186	0.30957	0.0:0.4844:0.5156:0.0	.	58;58	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	D	58	ENSP00000362223:G58D;ENSP00000362217:G58D	ENSP00000345134:G58D	G	+	2	0	DACH2	85290453	0.990000	0.36364	0.186000	0.23195	0.046000	0.14306	2.122000	0.41987	-0.026000	0.13895	0.538000	0.68166	GGC		0.572	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		35	33	0	0	0	1	0	35	33				
RGS7	6000	broad.mit.edu	37	1	240976931	240976931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240976931C>T	ENST00000407727.1	-	12	942	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000331110.7_Missense_Mutation_p.E289K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000366565.1_Missense_Mutation_p.E315K			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	315	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCAAGTTCCCAGAAAGTG	0.433																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(943-945)Gaa>Aaa		regulator of G-protein signaling 7							108.0	98.0	102.0					1																	240976931		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240976931C>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.943G>A	1.37:g.240976931C>T	ENSP00000384428:p.Glu315Lys					RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000407727.1_Missense_Mutation_p.E315K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000331110.7_Missense_Mutation_p.E289K	p.E315K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1324	-		all_cancers(173;0.0131)	315			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.943G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.732649	0.96856	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.76	5.76	0.90799	G-protein gamma domain (1);	0.050546	0.85682	D	0.000000	T	0.36580	0.0972	L	0.60455	1.87	0.80722	D	1	P;P;P;P;P;P;B	0.48911	0.866;0.727;0.837;0.84;0.917;0.692;0.201	P;P;P;P;P;B;B	0.52066	0.689;0.489;0.535;0.64;0.64;0.358;0.2	T	0.01195	-1.1422	10	0.42905	T	0.14	-20.7719	18.9557	0.92658	0.0:1.0:0.0:0.0	.	231;289;262;315;315;315;315	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	K	289;315;315;315;146;262;231;315;315;262	ENSP00000331485:E289K;ENSP00000355523:E315K;ENSP00000355522:E315K;ENSP00000355521:E315K;ENSP00000404399:E146K;ENSP00000341242:E262K;ENSP00000390138:E231K;ENSP00000355520:E315K;ENSP00000384428:E315K;ENSP00000385508:E262K	ENSP00000331485:E289K	E	-	1	0	RGS7	239043554	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.709000	0.92574	0.655000	0.94253	GAA		0.433	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		25	9	0	0	0	1	0	25	9				
NBN	4683	broad.mit.edu	37	8	90958431	90958431	+	Silent	SNP	G	G	A	rs200399787		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958431G>A	ENST00000265433.3	-	13	2161	c.2007C>T	c.(2005-2007)tcC>tcT	p.S669S	NBN_ENST00000409330.1_Silent_p.S587S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATGGATTTCTGGAAGTAGAGT	0.323								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(2005-2007)tcC>tcT	Homologous recombination	nibrin							109.0	111.0	110.0					8																	90958431		2203	4298	6501	SO:0001819	synonymous_variant	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90958431G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2007C>T	8.37:g.90958431G>A						NBN_ENST00000409330.1_Silent_p.S587S	p.S669S	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		13	2161	-			669					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.2007C>T	CCDS6249.1																																																																																				0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		20	51	0	0	0	1	0	20	51				
GALM	130589	broad.mit.edu	37	2	38908571	38908571	+	Silent	SNP	C	C	T	rs146126828		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:38908571C>T	ENST00000272252.5	+	3	747	c.495C>T	c.(493-495)gcC>gcT	p.A165A	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	165					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GAGCACAAGCCAGTCAGGCCA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0					ENST00000272252.5																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(493-495)gcC>gcT		galactose mutarotase (aldose 1-epimerase)							133.0	121.0	125.0					2																	38908571		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38908571C>T		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.495C>T	2.37:g.38908571C>T						GALM_ENST00000410063.1_Intron	p.A165A	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			3	747	+		all_hematologic(82;0.248)	165					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.495C>T	CCDS1797.1																																																																																				0.507	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		46	66	0	0	0	1	0	46	66				
ZNF407	55628	broad.mit.edu	37	18	72347414	72347414	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72347414C>T	ENST00000299687.5	+	1	4439	c.4439C>T	c.(4438-4440)cCg>cTg	p.P1480L	ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480L|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGAGCTTCCGGAGGGAGGG	0.473																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4438-4440)cCg>cTg		zinc finger protein 407							39.0	43.0	41.0					18																	72347414		1900	4138	6038	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347414C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4439C>T	18.37:g.72347414C>T	ENSP00000299687:p.Pro1480Leu					ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480L	p.P1480L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4439	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1480					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4439C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433705	0.83776	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11495	2.77;3.06	5.7	5.7	0.88788	.	0.071615	0.56097	D	0.000028	T	0.22044	0.0531	N	0.14661	0.345	0.31349	N	0.682742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	T	0.55464	-0.8137	10	0.39692	T	0.17	.	19.8437	0.96701	0.0:1.0:0.0:0.0	.	1480;1480;1480	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	L	1480	ENSP00000299687:P1480L;ENSP00000310359:P1480L	ENSP00000299687:P1480L	P	+	2	0	ZNF407	70476402	1.000000	0.71417	0.190000	0.23270	0.789000	0.44602	7.487000	0.81328	-2.891000	0.00315	-2.099000	0.00362	CCG		0.473	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		10	13	0	0	0	1	0	10	13				
CRYM	1428	broad.mit.edu	37	16	21278917	21278917	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21278917T>G	ENST00000219599.3	-	7	896	c.631A>C	c.(631-633)Att>Ctt	p.I211L	CRYM_ENST00000415987.2_Missense_Mutation_p.I169L|CRYM_ENST00000543948.1_Missense_Mutation_p.I211L|CRYM_ENST00000396023.2_Missense_Mutation_p.I211L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	211					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CCAAACAAAATGGGCTCTGTT	0.552																																						ENST00000219599.3																			0				large_intestine(1)|lung(3)	4						c.(631-633)Att>Ctt		crystallin, mu	Levothyroxine(DB00451)						130.0	106.0	114.0					16																	21278917		2199	4300	6499	SO:0001583	missense	1428				negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity	g.chr16:21278917T>G		CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.631A>C	16.37:g.21278917T>G	ENSP00000219599:p.Ile211Leu					CRYM_ENST00000543948.1_Missense_Mutation_p.I211L|CRYM_ENST00000415987.2_Missense_Mutation_p.I169L|CRYM_ENST00000396023.2_Missense_Mutation_p.I211L	p.I211L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	7	896	-			211					D5MNX0|Q5HYB7	Missense_Mutation	SNP	ENST00000219599.3	37	c.631A>C	CCDS10597.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111513	0.56398	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.73363	-0.71;-0.71;-0.71;-0.74	5.75	5.75	0.90469	NAD(P)-binding domain (1);	0.115622	0.64402	D	0.000010	T	0.60235	0.2253	N	0.20881	0.62	0.54753	D	0.999985	B	0.18461	0.028	B	0.32762	0.152	T	0.53676	-0.8405	10	0.08837	T	0.75	-15.0288	9.4043	0.38451	0.0:0.08:0.0:0.92	.	211	Q14894	CRYM_HUMAN	L	211;211;211;169	ENSP00000440227:I211L;ENSP00000219599:I211L;ENSP00000379341:I211L;ENSP00000390928:I169L	ENSP00000219599:I211L	I	-	1	0	CRYM	21186418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.169000	0.50809	2.192000	0.70111	0.460000	0.39030	ATT		0.552	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207398.1			23	24	0	0	0	1	0	23	24				
ZC3H18	124245	broad.mit.edu	37	16	88653042	88653042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88653042C>T	ENST00000301011.5	+	3	838	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.P213L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	213						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GTGAAGGACCCCAGTGACAGG	0.552																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(637-639)cCc>cTc		zinc finger CCCH-type containing 18							141.0	108.0	119.0					16																	88653042		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88653042C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.638C>T	16.37:g.88653042C>T	ENSP00000301011:p.Pro213Leu					ZC3H18_ENST00000452588.2_Missense_Mutation_p.P213L	p.P213L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	3	838	+			213					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.638C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020665	0.75275	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.41400	1.09;1.0	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64888	-0.6301	10	0.59425	D	0.04	-24.7109	18.3833	0.90457	0.0:1.0:0.0:0.0	.	213;213;213	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	L	213;213;213;96	ENSP00000301011:P213L;ENSP00000416951:P213L	ENSP00000289509:P213L	P	+	2	0	ZC3H18	87180543	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.245000	0.78237	2.350000	0.79820	0.462000	0.41574	CCC		0.552	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		7	26	0	0	0	1	0	7	26				
NXF3	56000	broad.mit.edu	37	X	102339350	102339350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102339350C>T	ENST00000395065.3	-	3	372	c.271G>A	c.(271-273)Gag>Aag	p.E91K	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	91					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTCTCTCTCCATGTTAACG	0.473																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(271-273)Gag>Aag		nuclear RNA export factor 3							233.0	179.0	197.0					X																	102339350		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339350C>T	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.271G>A	X.37:g.102339350C>T	ENSP00000378504:p.Glu91Lys					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2K	p.E91K	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			3	372	-			91					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.271G>A	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832540	0.32421	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.44083	0.98;0.93	3.69	-0.339	0.12647	.	0.129758	0.33712	N	0.004623	T	0.23094	0.0558	L	0.52573	1.65	0.09310	N	1	P;B	0.48230	0.907;0.048	B;B	0.37943	0.261;0.015	T	0.29150	-1.0021	10	0.12430	T	0.62	-4.5913	1.9274	0.03320	0.2922:0.4276:0.1672:0.1131	.	91;91	B4DYI1;Q9H4D5	.;NXF3_HUMAN	K	91;2	ENSP00000378504:E91K;ENSP00000404347:E2K	ENSP00000378504:E91K	E	-	1	0	NXF3	102226006	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.509000	0.06336	-0.205000	0.10219	0.544000	0.68410	GAG		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		65	99	0	0	0	1	0	65	99				
BTNL3	10917	broad.mit.edu	37	5	180424258	180424258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180424258G>A	ENST00000342868.6	+	3	627	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	148	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TATGTTGACGGAGGTATCCAG	0.502																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(442-444)gGa>gAa		butyrophilin-like 3							139.0	121.0	128.0					5																	180424258		2143	3962	6105	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424258G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.443G>A	5.37:g.180424258G>A	ENSP00000341787:p.Gly148Glu						p.G148E	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	627	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	148			Ig-like V-type.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.443G>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887929	0.33348	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.41758	0.99	3.9	3.02	0.34903	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43678	0.1258	L	0.53617	1.68	0.09310	N	1	D	0.54047	0.964	P	0.47981	0.563	T	0.21895	-1.0232	9	0.45353	T	0.12	.	9.9078	0.41386	0.1077:0.0:0.8923:0.0	.	148	Q6UXE8	BTNL3_HUMAN	E	148	ENSP00000341787:G148E	ENSP00000341787:G148E	G	+	2	0	BTNL3	180356864	0.981000	0.34729	0.001000	0.08648	0.003000	0.03518	2.723000	0.47277	0.953000	0.37825	0.531000	0.56144	GGA		0.502	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		32	69	0	0	0	1	0	32	69				
SCN10A	6336	broad.mit.edu	37	3	38805034	38805034	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38805034C>T	ENST00000449082.2	-	5	652	c.653G>A	c.(652-654)aGa>aAa	p.R218K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	218					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCTAAGAACTCTGAATGTCCG	0.453																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(652-654)aGa>aAa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						160.0	155.0	157.0					3																	38805034		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38805034C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.653G>A	3.37:g.38805034C>T	ENSP00000390600:p.Arg218Lys						p.R218K	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	5	652	-			218					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.653G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	34	5.377930	0.95945	.	.	ENSG00000185313	ENST00000449082	D	0.98762	-5.12	4.53	4.53	0.55603	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.94925	3.6	0.39725	D	0.971527	D	0.71674	0.998	D	0.81914	0.995	D	0.98971	1.0801	10	0.87932	D	0	.	17.8152	0.88630	0.0:1.0:0.0:0.0	.	218	Q9Y5Y9	SCNAA_HUMAN	K	218	ENSP00000390600:R218K	ENSP00000390600:R218K	R	-	2	0	SCN10A	38780038	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.514000	0.81750	2.489000	0.83994	0.557000	0.71058	AGA		0.453	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		34	66	0	0	0	1	0	34	66				
AMBN	258	broad.mit.edu	37	4	71468991	71468991	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71468991C>T	ENST00000322937.6	+	10	766	c.663C>T	c.(661-663)gcC>gcT	p.A221A	AMBN_ENST00000449493.2_Silent_p.A206A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	221					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCAAATAGCCCGTTTGATTT	0.318																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(661-663)gcC>gcT		ameloblastin (enamel matrix protein)							77.0	73.0	74.0					4																	71468991		2202	4298	6500	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468991C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.663C>T	4.37:g.71468991C>T						AMBN_ENST00000449493.2_Silent_p.A206A	p.A221A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		10	766	+			221					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.663C>T	CCDS3543.1																																																																																				0.318	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	22	0	0	0	1	0	6	22				
ABI3	51225	broad.mit.edu	37	17	47299452	47299452	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47299452G>A	ENST00000225941.1	+	7	1300		c.e7-1		ABI3_ENST00000419580.2_Splice_Site	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3						cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TTTCCCCCAAGACGAAGAGCT	0.587										HNSCC(55;0.14)																												ENST00000225941.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12						c.e7-1		ABI family, member 3							89.0	94.0	93.0					17																	47299452		2203	4300	6503	SO:0001630	splice_region_variant	51225				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding	g.chr17:47299452G>A	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.803-1G>A	17.37:g.47299452G>A		HNSCC(55;0.14)				ABI3_ENST00000419580.2_Splice_Site		NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)		7	1300	+								C9IZN8|Q9H0P6	Splice_Site	SNP	ENST00000225941.1	37		CCDS11546.1	.	.	.	.	.	.	.	.	.	.	G	7.599	0.672413	0.14776	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	.	.	.	4.52	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.26535	N	0.974197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2167	0.43173	0.0:0.3956:0.6044:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABI3	44654451	0.725000	0.28048	0.173000	0.22940	0.020000	0.10135	2.231000	0.43009	0.874000	0.35823	0.456000	0.33151	.		0.587	ABI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364475.1	NM_016428	Intron	45	98	0	0	0	1	0	45	98				
PAGE4	9506	broad.mit.edu	37	X	49597227	49597227	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49597227C>T	ENST00000218068.6	+	4	345	c.266C>T	c.(265-267)cCt>cTt	p.P89L	PAGE4_ENST00000376141.1_Missense_Mutation_p.P89L	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	89												Ovarian(276;0.236)					CCACCTAATCCTAAGCATGCT	0.408																																						ENST00000218068.6																			0											c.(265-267)cCt>cTt		P antigen family, member 4 (prostate associated)							107.0	86.0	93.0					X																	49597227		2203	4300	6503	SO:0001583	missense	9506							g.chrX:49597227C>T	AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"""G antigen, family C, 1"""	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.266C>T	X.37:g.49597227C>T	ENSP00000218068:p.Pro89Leu					PAGE4_ENST00000376141.1_Missense_Mutation_p.P89L	p.P89L	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN			4	345	+	Ovarian(276;0.236)		89					B2R529|D3DX68|Q6IBI1	Missense_Mutation	SNP	ENST00000218068.6	37	c.266C>T	CCDS35274.1	.	.	.	.	.	.	.	.	.	.	C	2.756	-0.258912	0.05791	.	.	ENSG00000101951	ENST00000376141;ENST00000218068	T;T	0.08720	3.06;3.06	2.94	-2.5	0.06384	.	.	.	.	.	T	0.03136	0.0092	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46555	-0.9183	9	0.06494	T	0.89	.	6.4684	0.21995	0.0:0.4937:0.0:0.5063	.	89	O60829	GAGC1_HUMAN	L	89	ENSP00000365311:P89L;ENSP00000218068:P89L	ENSP00000218068:P89L	P	+	2	0	PAGE4	49483965	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.114000	0.03293	-0.454000	0.07066	-0.480000	0.04831	CCT		0.408	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060839.1			38	40	0	0	0	1	0	38	40				
PEX5L	51555	broad.mit.edu	37	3	179537752	179537752	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179537752A>G	ENST00000467460.1	-	9	1165	c.835T>C	c.(835-837)Ttt>Ctt	p.F279L	PEX5L_ENST00000485199.1_Missense_Mutation_p.F244L|PEX5L_ENST00000472994.1_Missense_Mutation_p.F220L|PEX5L_ENST00000476138.1_Missense_Mutation_p.F236L|PEX5L_ENST00000464614.1_Missense_Mutation_p.F171L|PEX5L_ENST00000392649.3_Missense_Mutation_p.F171L|PEX5L_ENST00000468741.1_Missense_Mutation_p.F87L|PEX5L_ENST00000263962.8_Missense_Mutation_p.F277L|PEX5L_ENST00000465751.1_Missense_Mutation_p.F255L|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	279					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTATCCCAAAACTCTGTATCT	0.438																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(835-837)Ttt>Ctt		peroxisomal biogenesis factor 5-like							176.0	160.0	166.0					3																	179537752		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179537752A>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.835T>C	3.37:g.179537752A>G	ENSP00000419975:p.Phe279Leu					PEX5L_ENST00000485199.1_Missense_Mutation_p.F244L|PEX5L_ENST00000476138.1_Missense_Mutation_p.F236L|PEX5L_ENST00000468741.1_Missense_Mutation_p.F87L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F255L|PEX5L_ENST00000464614.1_Missense_Mutation_p.F171L|PEX5L_ENST00000392649.3_Missense_Mutation_p.F171L|PEX5L_ENST00000263962.8_Missense_Mutation_p.F277L|PEX5L_ENST00000472994.1_Missense_Mutation_p.F220L	p.F279L	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		9	1165	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		279					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.835T>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.990152	0.93106	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.35;-2.28;-2.33;-2.36;-2.37;-2.28;-2.36	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	L	0.57536	1.79	0.80722	D	1	P;P;D;D;D;D	0.71674	0.956;0.956;0.974;0.998;0.996;0.997	D;D;P;D;D;D	0.76071	0.931;0.931;0.566;0.987;0.98;0.97	D	0.93413	0.6770	10	0.59425	D	0.04	-16.0264	15.6613	0.77190	1.0:0.0:0.0:0.0	.	220;255;171;277;244;279	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	L	279;277;244;277;171;87;236;167;220;171;255	ENSP00000419975:F279L;ENSP00000263962:F277L;ENSP00000418440:F244L;ENSP00000376420:F171L;ENSP00000418665:F87L;ENSP00000420555:F236L;ENSP00000418054:F220L;ENSP00000417270:F171L;ENSP00000419348:F255L	ENSP00000263962:F277L	F	-	1	0	PEX5L	181020446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.590000	0.90821	2.189000	0.69895	0.533000	0.62120	TTT		0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		36	65	0	0	0	1	0	36	65				
SLC5A8	160728	broad.mit.edu	37	12	101576605	101576605	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:101576605G>A	ENST00000536262.2	-	9	1699	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCAAGACAGAGACCTTTCT	0.383																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1141-1143)Ctg>Ttg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							97.0	93.0	95.0					12																	101576605		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101576605G>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1141C>T	12.37:g.101576605G>A							p.L381L	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			9	1699	-			381						Silent	SNP	ENST00000536262.2	37	c.1141C>T	CCDS9080.1																																																																																				0.383	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		59	19	0	0	0	1	0	59	19				
CPT1A	1374	broad.mit.edu	37	11	68552336	68552336	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68552336G>A	ENST00000265641.5	-	10	1264	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	CPT1A_ENST00000539743.1_Silent_p.T370T|CPT1A_ENST00000540367.1_Silent_p.T370T|CPT1A_ENST00000376618.2_Silent_p.T370T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	370					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGGCTCCGAGGTATTGTCCA	0.642																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1108-1110)acC>acT		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						84.0	73.0	77.0					11																	68552336		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68552336G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1110C>T	11.37:g.68552336G>A						CPT1A_ENST00000540367.1_Silent_p.T370T|CPT1A_ENST00000539743.1_Silent_p.T370T|CPT1A_ENST00000376618.2_Silent_p.T370T	p.T370T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		10	1264	-	Esophageal squamous(3;3.28e-14)		370					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1110C>T	CCDS8185.1																																																																																				0.642	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		25	43	0	0	0	1	0	25	43				
FAM47C	442444	broad.mit.edu	37	X	37028492	37028492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028492C>T	ENST00000358047.3	+	1	2061	c.2009C>T	c.(2008-2010)cCc>cTc	p.P670L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCCGGAGCCCCCCGAGACT	0.642																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2008-2010)cCc>cTc		family with sequence similarity 47, member C							18.0	19.0	19.0					X																	37028492		2156	4247	6403	SO:0001583	missense	442444							g.chrX:37028492C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2009C>T	X.37:g.37028492C>T	ENSP00000367913:p.Pro670Leu						p.P670L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2061	+			670					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2009C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	11.13	1.547543	0.27652	.	.	ENSG00000198173	ENST00000358047	T	0.22743	1.94	1.41	-0.938	0.10412	.	.	.	.	.	T	0.36663	0.0975	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.15954	-1.0419	9	0.45353	T	0.12	.	3.6116	0.08062	0.0:0.534:0.2632:0.2028	.	670	Q5HY64	FA47C_HUMAN	L	670	ENSP00000367913:P670L	ENSP00000367913:P670L	P	+	2	0	FAM47C	36938413	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.127000	0.15790	-0.186000	0.10533	-0.444000	0.05651	CCC		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		46	37	0	0	0	1	0	46	37				
TMEM35	59353	broad.mit.edu	37	X	100334063	100334063	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100334063G>A	ENST00000372930.4	+	1	355	c.72G>A	c.(70-72)ggG>ggA	p.G24G	TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	24						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTTTCATGGGGACTATCAAGC	0.557																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(70-72)ggG>ggA		transmembrane protein 35							116.0	85.0	96.0					X																	100334063		2203	4300	6503	SO:0001819	synonymous_variant	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100334063G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.72G>A	X.37:g.100334063G>A							p.G24G	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			1	355	+			24					Q9H7Y3	Silent	SNP	ENST00000372930.4	37	c.72G>A	CCDS14478.1																																																																																				0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		27	19	0	0	0	1	0	27	19				
TRPV5	56302	broad.mit.edu	37	7	142625949	142625949	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142625949A>G	ENST00000265310.1	-	6	947	c.599T>C	c.(598-600)tTa>tCa	p.L200S	TRPV5_ENST00000442623.1_Missense_Mutation_p.L200S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	200					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GAGGATGTGTAATACTGTGTT	0.567																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(598-600)tTa>tCa		transient receptor potential cation channel, subfamily V, member 5							224.0	213.0	216.0					7																	142625949		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625949A>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.599T>C	7.37:g.142625949A>G	ENSP00000265310:p.Leu200Ser					TRPV5_ENST00000442623.1_Missense_Mutation_p.L200S	p.L200S	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			6	947	-	Melanoma(164;0.059)		200					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.599T>C	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.758928	0.69763	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.80214	-1.35;-1.35;-1.35	3.71	3.71	0.42584	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89118	0.6624	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.90439	0.4430	10	0.87932	D	0	-10.1894	12.0322	0.53403	1.0:0.0:0.0:0.0	.	200;200	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	S	200;194;200	ENSP00000265310:L200S;ENSP00000406361:L194S;ENSP00000406572:L200S	ENSP00000265310:L200S	L	-	2	0	TRPV5	142336071	1.000000	0.71417	0.966000	0.40874	0.948000	0.59901	8.776000	0.91776	1.689000	0.51079	0.379000	0.24179	TTA		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		57	52	0	0	0	1	0	57	52				
KIF1A	547	broad.mit.edu	37	2	241726675	241726675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241726675G>A	ENST00000320389.7	-	5	580	c.422C>T	c.(421-423)tCc>tTc	p.S141F	KIF1A_ENST00000498729.2_Missense_Mutation_p.S141F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	141	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCTCCACGGAGTAGGACAT	0.627																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(421-423)tCc>tTc		kinesin family member 1A							70.0	86.0	81.0					2																	241726675		2056	4200	6256	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241726675G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.422C>T	2.37:g.241726675G>A	ENSP00000322791:p.Ser141Phe					KIF1A_ENST00000320389.7_Missense_Mutation_p.S141F	p.S141F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	5	668	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	141			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.422C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830303	0.50845	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76316	-1.01;-1.01;-1.01	4.51	4.51	0.55191	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.86871	0.6037	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.997	D	0.88801	0.3285	10	0.87932	D	0	.	16.8348	0.85954	0.0:0.0:1.0:0.0	.	141;141;141	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	F	141	ENSP00000322791:S141F;ENSP00000438388:S141F;ENSP00000384231:S141F	ENSP00000322791:S141F	S	-	2	0	KIF1A	241375348	1.000000	0.71417	0.888000	0.34837	0.083000	0.17756	7.649000	0.83500	2.066000	0.61787	0.655000	0.94253	TCC		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		30	12	0	0	0	1	0	30	12				
SASH1	23328	broad.mit.edu	37	6	148840782	148840782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148840782C>T	ENST00000367467.3	+	10	1437	c.962C>T	c.(961-963)cCt>cTt	p.P321L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	321					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GATGGCTCTCCTGAGAAACCT	0.582																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(961-963)cCt>cTt		SAM and SH3 domain containing 1							87.0	87.0	87.0					6																	148840782		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148840782C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.962C>T	6.37:g.148840782C>T	ENSP00000356437:p.Pro321Leu						p.P321L	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	10	1437	+		Ovarian(120;0.0169)	321					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.962C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	9.186	1.024732	0.19433	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.35789	1.29	5.43	4.55	0.56014	.	0.313266	0.36409	N	0.002607	T	0.09069	0.0224	N	0.14661	0.345	0.30946	N	0.725317	B;B	0.17038	0.02;0.02	B;B	0.14023	0.01;0.01	T	0.12993	-1.0526	10	0.20519	T	0.43	-8.3801	11.4197	0.49974	0.0:0.8051:0.1248:0.07	.	302;321	Q6P4R9;O94885	.;SASH1_HUMAN	L	321;82	ENSP00000356437:P321L	ENSP00000356437:P321L	P	+	2	0	SASH1	148882475	0.129000	0.22400	0.211000	0.23655	0.314000	0.28054	2.458000	0.45014	2.548000	0.85928	0.655000	0.94253	CCT		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		33	17	0	0	0	1	0	33	17				
NUMBL	9253	broad.mit.edu	37	19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGACTTCACGGACTTTCGGCC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(337-339)tCc>tTc		numb homolog (Drosophila)-like							97.0	88.0	91.0					19																	41188694		2203	4300	6503	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188694G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.338C>T	19.37:g.41188694G>A	ENSP00000252891:p.Ser113Phe					NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F	p.S113F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		5	505	-			113			PID.		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.338C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	NUMBL	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		37	30	0	0	0	1	0	37	30				
ENTPD1	953	broad.mit.edu	37	10	97583064	97583064	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97583064G>A	ENST00000371205.4	+	2	370	c.87G>A	c.(85-87)gtG>gtA	p.V29V	ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Silent_p.V36V|ENTPD1_ENST00000371207.3_Silent_p.V41V|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	29					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCATAGCTGTGATAGCTTTGC	0.403																																						ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(121-123)gtG>gtA		ectonucleoside triphosphate diphosphohydrolase 1							146.0	134.0	138.0					10																	97583064		2203	4300	6503	SO:0001819	synonymous_variant	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97583064G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.87G>A	10.37:g.97583064G>A						ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Silent_p.V29V|ENTPD1_ENST00000453258.2_Silent_p.V36V|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR	p.V41V	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	2	186	+		Colorectal(252;0.0821)	29					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Silent	SNP	ENST00000371205.4	37	c.123G>A	CCDS7444.1																																																																																				0.403	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		23	48	0	0	0	1	0	23	48				
ZBTB8A	653121	broad.mit.edu	37	1	33058894	33058894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33058894C>T	ENST00000373510.4	+	3	591	c.362C>T	c.(361-363)tCc>tTc	p.S121F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S121F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						ATTAAATCTTCCTTAGACATT	0.378																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(361-363)tCc>tTc		zinc finger and BTB domain containing 8A							97.0	97.0	97.0					1																	33058894		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058894C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.362C>T	1.37:g.33058894C>T	ENSP00000362609:p.Ser121Phe					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S121F	p.S121F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	591	+			121					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.362C>T	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961119	0.53400	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.70164	-0.46;-0.46	5.32	4.39	0.52855	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.076601	0.53938	U	0.000043	T	0.74245	0.3691	L	0.58428	1.81	0.43896	D	0.996528	D;P	0.55172	0.97;0.921	P;P	0.59643	0.861;0.74	T	0.71401	-0.4604	10	0.23302	T	0.38	-8.4174	14.7226	0.69317	0.146:0.854:0.0:0.0	.	121;121	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	F	121	ENSP00000362609:S121F;ENSP00000317561:S121F	ENSP00000317561:S121F	S	+	2	0	ZBTB8A	32831481	1.000000	0.71417	0.758000	0.31321	0.932000	0.56968	5.743000	0.68655	1.347000	0.45714	0.585000	0.79938	TCC		0.378	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		19	83	0	0	0	1	0	19	83				
KIF26A	26153	broad.mit.edu	37	14	104638927	104638927	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104638927G>A	ENST00000423312.2	+	7	1342	c.1342G>A	c.(1342-1344)Ggg>Agg	p.G448R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G309R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	448	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGTCTGCTCGGGGACCGTGGC	0.637																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(925-927)Ggg>Agg		kinesin family member 26A							64.0	67.0	66.0					14																	104638927		2088	4210	6298	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104638927G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1342G>A	14.37:g.104638927G>A	ENSP00000388241:p.Gly448Arg					KIF26A_ENST00000423312.2_Missense_Mutation_p.G448R	p.G309R			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	6	1303	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	448					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.925G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501143	0.85176	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.74002	-0.8;-0.8	4.25	4.25	0.50352	Kinesin, motor domain (4);	.	.	.	.	T	0.80909	0.4714	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83903	0.0291	9	0.87932	D	0	.	16.6587	0.85235	0.0:0.0:1.0:0.0	.	448	Q9ULI4	KI26A_HUMAN	R	448;309	ENSP00000388241:G448R;ENSP00000325452:G309R	ENSP00000325452:G309R	G	+	1	0	KIF26A	103708680	1.000000	0.71417	0.986000	0.45419	0.602000	0.36980	9.577000	0.98196	1.912000	0.55364	0.462000	0.41574	GGG		0.637	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			13	20	0	0	0	1	0	13	20				
TTN	7273	broad.mit.edu	37	2	179442205	179442205	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179442205T>G	ENST00000591111.1	-	274	64158	c.63934A>C	c.(63934-63936)Aaa>Caa	p.K21312Q	TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14080Q|TTN_ENST00000342992.6_Missense_Mutation_p.K20385Q|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K22953Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14013Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K13888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21312	Ig-like 113.				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)			AGCCCATCTTTTATTGTGGGA	0.363																																						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.(68857-68859)Aaa>Caa		titin							55.0	49.0	51.0					2																	179442205		1845	4094	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442205T>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.63934A>C	2.37:g.179442205T>G	ENSP00000465570:p.Lys21312Gln					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20385Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21312Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14013Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14080Q|TTN_ENST00000460472.2_Missense_Mutation_p.K13888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA	p.K22953Q	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)		324	69081	-			21312			Fibronectin type-III 66.		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.68857A>C		.	.	.	.	.	.	.	.	.	.	T	13.91	2.379396	0.42207	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;0.05;0.03;0.03	5.58	5.58	0.84498	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72120	0.3421	L	0.46670	1.46	0.58432	D	0.999992	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.62089	0.898;0.898;0.898;0.898	T	0.75028	-0.3462	9	0.87932	D	0	.	16.0529	0.80775	0.0:0.0:0.0:1.0	.	13888;14013;14080;21312	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	20385;13888;14080;14013;13886	ENSP00000343764:K20385Q;ENSP00000434586:K13888Q;ENSP00000340554:K14080Q;ENSP00000352154:K14013Q	ENSP00000340554:K14080Q	K	-	1	0	TTN	179150451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.991000	0.88244	2.257000	0.74773	0.459000	0.35465	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	14	0	0	0	1	0	15	14				
SLITRK6	84189	broad.mit.edu	37	13	86368629	86368629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368629C>T	ENST00000400286.2	-	2	2613	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGCAGAGGGTCTTTCAGTAGT	0.443																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2014-2016)aGa>aAa		SLIT and NTRK-like family, member 6							216.0	207.0	210.0					13																	86368629		2004	4159	6163	SO:0001583	missense	84189					integral to membrane		g.chr13:86368629C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2015G>A	13.37:g.86368629C>T	ENSP00000383143:p.Arg672Lys						p.R672K	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2613	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		672					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2015G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805779	0.31961	.	.	ENSG00000184564	ENST00000400286	T	0.53640	0.61	5.84	5.84	0.93424	.	0.078936	0.47852	U	0.000214	T	0.36496	0.0969	N	0.01048	-1.04	0.49798	D	0.999823	D	0.69078	0.997	D	0.72625	0.978	T	0.43360	-0.9396	10	0.02654	T	1	-13.6385	18.719	0.91686	0.0:1.0:0.0:0.0	.	672	Q9H5Y7	SLIK6_HUMAN	K	672	ENSP00000383143:R672K	ENSP00000383143:R672K	R	-	2	0	SLITRK6	85266630	0.915000	0.31059	0.771000	0.31576	0.959000	0.62525	4.678000	0.61641	2.760000	0.94817	0.655000	0.94253	AGA		0.443	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		73	130	0	0	0	1	0	73	130				
PCDHB3	56132	broad.mit.edu	37	5	140481617	140481617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140481617G>A	ENST00000231130.2	+	1	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.E462K(1)		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)			GTTCGTCCGCGAGAACAACAG	0.602																																						ENST00000231130.2																			1	Substitution - Missense(1)	p.E462K(1)	large_intestine(1)	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.(1384-1386)Gag>Aag									84.0	82.0	83.0					5																	140481617		2203	4296	6499	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481617G>A	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.1384G>A	5.37:g.140481617G>A	ENSP00000231130:p.Glu462Lys					AC005754.7_ENST00000607216.1_RNA	p.E462K	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1384	+			462			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1384G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921277	0.92249	.	.	ENSG00000113205	ENST00000231130	T	0.76316	-1.01	4.26	4.26	0.50523	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92583	0.7644	H	0.98068	4.14	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.95691	0.8740	9	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	462	Q9Y5E6	PCDB3_HUMAN	K	462	ENSP00000231130:E462K	ENSP00000231130:E462K	E	+	1	0	PCDHB3	140461801	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.742000	0.98846	2.084000	0.62774	0.563000	0.77884	GAG		0.602	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		50	111	0	0	0	1	0	50	111				
OR2L3	391192	broad.mit.edu	37	1	248224262	248224262	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248224262C>T	ENST00000359959.3	+	1	279	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATCTCCTTCACTGGGTGTG	0.433																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(277-279)ttC>ttT		olfactory receptor, family 2, subfamily L, member 3							244.0	250.0	248.0					1																	248224262		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224262C>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.279C>T	1.37:g.248224262C>T						OR2L13_ENST00000366478.2_Intron	p.F93F	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	279	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93					B9EH44	Silent	SNP	ENST00000359959.3	37	c.279C>T	CCDS31104.1																																																																																				0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		42	146	0	0	0	1	0	42	146				
F13A1	2162	broad.mit.edu	37	6	6266848	6266848	+	Nonsense_Mutation	SNP	G	G	A	rs121913065		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:6266848G>A	ENST00000264870.3	-	4	779	c.514C>T	c.(514-516)Cga>Tga	p.R172*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGACTGGTTCGAAGTACGCCA	0.458																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	GRCh37	CM930201	F13A1	M	rs121913065	c.(514-516)Cga>Tga		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						139.0	126.0	131.0					6																	6266848		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266848G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.514C>T	6.37:g.6266848G>A	ENSP00000264870:p.Arg172*						p.R172*	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	779	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	172					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.514C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017358	0.75161	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	.	.	.	5.65	4.79	0.61399	.	0.200049	0.40144	N	0.001178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.85	0.85991	0.0:0.0:0.7666:0.2334	.	.	.	.	X	172;109	.	ENSP00000264870:R172X	R	-	1	2	F13A1	6211847	0.996000	0.38824	0.890000	0.34922	0.102000	0.19082	2.244000	0.43124	0.750000	0.32877	-0.808000	0.03180	CGA		0.458	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		4	69	0	0	0	1	0	4	69				
ZNF331	55422	broad.mit.edu	37	19	54081122	54081122	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54081122G>A	ENST00000253144.9	+	7	2641	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	ZNF331_ENST00000411977.2_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000511154.1_Silent_p.A436A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACAGTGGGGCGAAATCCTACG	0.488			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1306-1308)gcG>gcA		zinc finger protein 331							79.0	66.0	70.0					19																	54081122		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081122G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1308G>A	19.37:g.54081122G>A						ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000511154.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000411977.2_Silent_p.A436A	p.A436A	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2641	+			436					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.1308G>A	CCDS33102.1																																																																																				0.488	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		17	20	0	0	0	1	0	17	20				
TRAF3	7187	broad.mit.edu	37	14	103369699	103369699	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369699C>T	ENST00000560371.1	+	10	1285	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S	TRAF3_ENST00000539721.1_Silent_p.S273S|TRAF3_ENST00000347662.4_Silent_p.S331S|TRAF3_ENST00000392745.2_Silent_p.S356S|TRAF3_ENST00000351691.5_Silent_p.S331S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GCGTGGAGTCCCTCCAGAACC	0.632																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1066-1068)tcC>tcT		TNF receptor-associated factor 3							85.0	82.0	83.0					14																	103369699		2203	4300	6503	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103369699C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1068C>T	14.37:g.103369699C>T						TRAF3_ENST00000539721.1_Silent_p.S273S|TRAF3_ENST00000392745.2_Silent_p.S356S|TRAF3_ENST00000347662.4_Silent_p.S331S|TRAF3_ENST00000351691.5_Silent_p.S331S	p.S356S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	10	1285	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	356					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.1068C>T	CCDS9975.1																																																																																				0.632	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		28	55	0	0	0	1	0	28	55				
TRPM6	140803	broad.mit.edu	37	9	77416932	77416932	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416932C>T	ENST00000360774.1	-	16	2128	c.1891G>A	c.(1891-1893)Gga>Aga	p.G631R	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626R|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.G631R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G626R	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCTCCTCTCCATGCTGCCAG	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1891-1893)Gga>Aga		transient receptor potential cation channel, subfamily M, member 6							144.0	115.0	125.0					9																	77416932		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416932C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1891G>A	9.37:g.77416932C>T	ENSP00000354006:p.Gly631Arg					TRPM6_ENST00000361255.3_Missense_Mutation_p.G626R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626R|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631R|TRPM6_ENST00000376872.3_Intron	p.G631R			Q9BX84	TRPM6_HUMAN			16	2128	-			631					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1891G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036216	0.93630	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89853	0.6835	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.92205	0.5771	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	294;631;626	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	R	631;631;626;626;631;294;294	ENSP00000354006:G631R;ENSP00000407341:G631R;ENSP00000396672:G626R;ENSP00000354962:G626R;ENSP00000366060:G631R	ENSP00000309693:G294R	G	-	1	0	TRPM6	76606752	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	7.772000	0.85439	2.462000	0.83206	0.585000	0.79938	GGA		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		34	12	0	0	0	1	0	34	12				
PRMT7	54496	broad.mit.edu	37	16	68373238	68373238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:68373238C>T	ENST00000339507.5	+	8	1348	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	173	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		AATTGTGAGGCCGTGCCCCAC	0.463																																						ENST00000339507.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20						c.(517-519)gCc>gTc		protein arginine methyltransferase 7							63.0	58.0	60.0					16																	68373238		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68373238C>T	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.518C>T	16.37:g.68373238C>T	ENSP00000343103:p.Ala173Val					PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V	p.A173V			Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	8	1348	+		Ovarian(137;0.192)	173					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.518C>T	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886249	0.51908	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	L	0.32530	0.975	0.80722	D	1	P;D;B;D	0.76494	0.725;0.999;0.04;0.984	P;D;B;D	0.77557	0.618;0.99;0.023;0.913	T	0.06144	-1.0843	10	0.02654	T	1	-10.0304	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	123;99;173;173	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	V	123;123;99;173	ENSP00000414716:A123V;ENSP00000409324:A123V;ENSP00000345775:A99V;ENSP00000343103:A173V	ENSP00000343103:A173V	A	+	2	0	PRMT7	66930739	1.000000	0.71417	0.987000	0.45799	0.584000	0.36387	5.604000	0.67626	1.575000	0.49775	0.655000	0.94253	GCC		0.463	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023		21	43	0	0	0	1	0	21	43				
RREB1	6239	broad.mit.edu	37	6	7232112	7232112	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232112C>T	ENST00000349384.6	+	10	4094	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S	RREB1_ENST00000379938.2_Silent_p.S1260S|RREB1_ENST00000379933.3_Silent_p.S1260S|RREB1_ENST00000334984.6_Silent_p.S1260S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1260					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGCCAGCTCCCTACAGAGGC	0.607																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3778-3780)tcC>tcT		ras responsive element binding protein 1							52.0	40.0	44.0					6																	7232112		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232112C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3780C>T	6.37:g.7232112C>T						RREB1_ENST00000334984.6_Silent_p.S1260S|RREB1_ENST00000349384.6_Silent_p.S1260S|RREB1_ENST00000379933.3_Silent_p.S1260S	p.S1260S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4317	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1260					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3780C>T	CCDS34336.1																																																																																				0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	11	0	0	0	1	0	16	11				
PDE1A	5136	broad.mit.edu	37	2	183104926	183104926	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183104926C>T	ENST00000410103.1	-	4	392	c.309G>A	c.(307-309)cgG>cgA	p.R103R	PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000435564.1_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000331935.6_Silent_p.R103R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000358139.2_Silent_p.R103R	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCCCATTTTCCGTGTAAAGG	0.423																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(307-309)cgG>cgA		phosphodiesterase 1A, calmodulin-dependent							130.0	130.0	130.0					2																	183104926		2203	4300	6503	SO:0001819	synonymous_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183104926C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.309G>A	2.37:g.183104926C>T						PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000358139.2_Silent_p.R103R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000331935.6_Silent_p.R103R	p.R103R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		3	509	-			103					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	ENST00000410103.1	37	c.309G>A	CCDS33344.1																																																																																				0.423	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			42	81	0	0	0	1	0	42	81				
PNCK	139728	broad.mit.edu	37	X	152938046	152938046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938046C>T	ENST00000370150.1	-	3	353	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PNCK_ENST00000447676.2_Missense_Mutation_p.E142K|PNCK_ENST00000370142.1_Missense_Mutation_p.E59K|PNCK_ENST00000370145.4_Missense_Mutation_p.E76K|PNCK_ENST00000393831.2_Missense_Mutation_p.E59K|PNCK_ENST00000340888.3_Missense_Mutation_p.E59K|PNCK_ENST00000475172.1_5'UTR			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	59	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTCGTTCTCCACCAGGGCC	0.682																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(175-177)Gag>Aag		pregnancy up-regulated nonubiquitous CaM kinase							54.0	55.0	54.0					X																	152938046		2203	4300	6503	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938046C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.175G>A	X.37:g.152938046C>T	ENSP00000359169:p.Glu59Lys					PNCK_ENST00000447676.2_Missense_Mutation_p.E142K|PNCK_ENST00000370150.1_Missense_Mutation_p.E59K|PNCK_ENST00000340888.3_Missense_Mutation_p.E59K|PNCK_ENST00000370145.4_Missense_Mutation_p.E76K|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.E59K	p.E59K	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			3	609	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		59			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.175G>A		.	.	.	.	.	.	.	.	.	.	c	27.1	4.797394	0.90538	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811;ENST00000418241;ENST00000434652	T;T;T;T;T;T;T;T;T;T	0.38560	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.13;1.13	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	U	0.000071	T	0.49575	0.1565	L	0.31207	0.915	0.58432	D	0.999999	D;D;D;D	0.61080	0.978;0.986;0.989;0.989	P;D;D;D	0.71870	0.808;0.958;0.975;0.975	T	0.40997	-0.9533	10	0.26408	T	0.33	-9.2941	14.6565	0.68835	0.0:1.0:0.0:0.0	.	86;142;76;59	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	K	59;59;59;59;76;142;59;59;59;59	ENSP00000340586:E59K;ENSP00000359169:E59K;ENSP00000377417:E59K;ENSP00000359161:E59K;ENSP00000359164:E76K;ENSP00000405950:E142K;ENSP00000415770:E59K;ENSP00000391772:E59K;ENSP00000411267:E59K;ENSP00000396128:E59K	ENSP00000340586:E59K	E	-	1	0	PNCK	152591240	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.373000	0.79623	1.681000	0.50988	0.431000	0.28591	GAG		0.682	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		57	70	0	0	0	1	0	57	70				
FLG	2312	broad.mit.edu	37	1	152283284	152283284	+	Missense_Mutation	SNP	G	G	A	rs372081313		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283284G>A	ENST00000368799.1	-	3	4113	c.4078C>T	c.(4078-4080)Cgc>Tgc	p.R1360C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1360	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)	p.R1360S(1)		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)			TGCTGGTGGCGGGATCCATGT	0.542									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.R1360S(1)	lung(1)	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.(4078-4080)Cgc>Tgc		filaggrin		G	CYS/ARG	0,4406		0,0,2203	373.0	353.0	360.0		4078	-0.9	0.0	1		360	1,8593		0,1,4296	no	missense	FLG	NM_002016.1	180	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1360/4062	152283284	1,12999	2203	4297	6500	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.chr1:152283284G>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.4078C>T	1.37:g.152283284G>A	ENSP00000357789:p.Arg1360Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1360C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4113	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1360			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4078C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328325	0.24080	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01854	4.6	3.78	-0.908	0.10517	.	.	.	.	.	T	0.01976	0.0062	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.68483	0.958	T	0.44667	-0.9313	9	0.39692	T	0.17	.	1.9754	0.03415	0.1063:0.1711:0.3729:0.3497	.	1360	P20930	FILA_HUMAN	C	1360	ENSP00000357789:R1360C	ENSP00000357789:R1360C	R	-	1	0	FLG	150549908	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-1.406000	0.02490	0.047000	0.15862	0.556000	0.70494	CGC		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		91	321	0	0	0	1	0	91	321				
IFIT3	3437	broad.mit.edu	37	10	91099089	91099089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099089G>A	ENST00000371818.4	+	2	857	c.677G>A	c.(676-678)gGa>gAa	p.G226E	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226E|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GAAGCTGAAGGAGAGCAGTTT	0.443																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(676-678)gGa>gAa		interferon-induced protein with tetratricopeptide repeats 3							56.0	61.0	59.0					10																	91099089		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099089G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.677G>A	10.37:g.91099089G>A	ENSP00000360883:p.Gly226Glu					LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226E|LIPA_ENST00000371837.1_Intron	p.G226E	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	857	+			226					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.677G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538584	0.27475	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.38560	1.13;1.13	4.48	1.48	0.22813	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.319390	0.32287	N	0.006308	T	0.68476	0.3005	M	0.88241	2.94	0.34002	D	0.650455	D	0.89917	1.0	D	0.74674	0.984	T	0.82839	-0.0259	10	0.87932	D	0	-7.1155	16.8285	0.85937	0.0:0.4359:0.5641:0.0	.	226	O14879	IFIT3_HUMAN	E	226;226;47	ENSP00000360883:G226E;ENSP00000360876:G226E	ENSP00000360876:G226E	G	+	2	0	IFIT3	91089069	0.812000	0.29077	0.210000	0.23637	0.016000	0.09150	0.945000	0.29056	0.352000	0.24053	0.655000	0.94253	GGA		0.443	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		28	27	0	0	0	1	0	28	27				
DLGAP4	22839	broad.mit.edu	37	20	35060384	35060384	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:35060384C>T	ENST00000373907.2	+	2	463	c.264C>T	c.(262-264)ttC>ttT	p.F88F	DLGAP4_ENST00000373913.3_Silent_p.F88F|DLGAP4_ENST00000339266.5_Silent_p.F88F|DLGAP4_ENST00000401952.2_Silent_p.F88F			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	88					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAGCCCCTTCCCCAGCCATG	0.627																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(262-264)ttC>ttT		discs, large (Drosophila) homolog-associated protein 4							74.0	78.0	76.0					20																	35060384		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060384C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.264C>T	20.37:g.35060384C>T						DLGAP4_ENST00000401952.2_Silent_p.F88F|DLGAP4_ENST00000339266.5_Silent_p.F88F|DLGAP4_ENST00000373907.2_Silent_p.F88F	p.F88F			Q9Y2H0	DLGP4_HUMAN			3	744	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	88					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.264C>T																																																																																					0.627	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		34	68	0	0	0	1	0	34	68				
KRTAP5-1	387264	broad.mit.edu	37	11	1605992	1605992	+	Missense_Mutation	SNP	G	G	A	rs60899198	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605992G>A	ENST00000382171.2	-	1	521	c.488C>T	c.(487-489)tCc>tTc	p.S163F	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCCCCCTTGGAGCACCCACA	0.652																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(487-489)tCc>tTc		keratin associated protein 5-1							69.0	84.0	79.0					11																	1605992		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1605992G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.488C>T	11.37:g.1605992G>A	ENSP00000371606:p.Ser163Phe					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.S163F	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	521	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	163			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.488C>T	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	2.591	-0.295229	0.05532	.	.	ENSG00000205869	ENST00000382171	T	0.05025	3.51	3.69	-5.66	0.02451	.	.	.	.	.	T	0.11324	0.0276	M	0.76170	2.325	0.09310	N	1	P	0.43094	0.799	B	0.41813	0.367	T	0.11717	-1.0576	9	0.62326	D	0.03	.	17.1666	0.86818	0.0:0.7049:0.2951:0.0	.	163	Q6L8H4	KRA51_HUMAN	F	163	ENSP00000371606:S163F	ENSP00000371606:S163F	S	-	2	0	KRTAP5-1	1562568	0.000000	0.05858	0.150000	0.22450	0.017000	0.09413	-1.717000	0.01876	-1.045000	0.03250	-0.974000	0.02594	TCC		0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		46	106	0	0	0	1	0	46	106				
SAG	6295	broad.mit.edu	37	2	234229349	234229349	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229349G>A	ENST00000409110.1	+	5	485	c.255G>A	c.(253-255)agG>agA	p.R85R	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	85					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTTCCGCAGGGACCTGTACT	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(253-255)agG>agA		S-antigen; retina and pineal gland (arrestin)							36.0	39.0	38.0					2																	234229349		2079	4239	6318	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234229349G>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.255G>A	2.37:g.234229349G>A						SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	p.R85R	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	5	485	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	85					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.255G>A	CCDS46545.1																																																																																				0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		3	6	0	0	0	1	0	3	6				
NPPA	4878	broad.mit.edu	37	1	11907497	11907497	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907497C>T	ENST00000376480.3	-	2	222		c.e2-1		NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Splice_Site	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A						cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCAAATTCTTTAGAAAAG	0.498																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.e2-1		natriuretic peptide A							44.0	52.0	49.0					1																	11907497		2202	4300	6502	SO:0001630	splice_region_variant	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907497C>T	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.124-1G>A	1.37:g.11907497C>T						NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Splice_Site|NPPA-AS1_ENST00000446542.1_RNA		NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	222	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)						Q13766|Q5JZE1	Splice_Site	SNP	ENST00000376480.3	37		CCDS139.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375403	0.61735	.	.	ENSG00000175206	ENST00000376480	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8438	0.78871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPPA	11830084	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.949000	0.56668	2.815000	0.96918	0.561000	0.74099	.		0.498	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172	Intron	20	31	0	0	0	1	0	20	31				
ZNF473	25888	broad.mit.edu	37	19	50549887	50549887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50549887C>T	ENST00000595661.1	+	6	2682	c.2187C>T	c.(2185-2187)ccC>ccT	p.P729P	ZNF473_ENST00000391821.2_Silent_p.P729P|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.P717P|ZNF473_ENST00000270617.3_Silent_p.P729P|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	729					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GTGAGAAGCCCTATGTATGTG	0.493											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2185-2187)ccC>ccT		zinc finger protein 473							89.0	94.0	93.0					19																	50549887		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549887C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2187C>T	19.37:g.50549887C>T			OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.P717P|ZNF473_ENST00000270617.3_Silent_p.P729P|ZNF473_ENST00000391821.2_Silent_p.P729P|ZNF473_ENST00000601364.1_Intron	p.P729P			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2682	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	729					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.2187C>T	CCDS33077.1																																																																																				0.493	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		29	53	0	0	0	1	0	29	53				
CSRNP3	80034	broad.mit.edu	37	2	166533061	166533061	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166533061C>T	ENST00000342316.4	+	4	920	c.648C>T	c.(646-648)tgC>tgT	p.C216C	CSRNP3_ENST00000409420.1_Silent_p.C248C|CSRNP3_ENST00000314499.7_Silent_p.C216C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	216	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTGTGACTGCCGAGTGTTCT	0.547																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(646-648)tgC>tgT		cysteine-serine-rich nuclear protein 3							67.0	64.0	65.0					2																	166533061		2203	4300	6503	SO:0001819	synonymous_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166533061C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.648C>T	2.37:g.166533061C>T						CSRNP3_ENST00000409420.1_Silent_p.C248C|CSRNP3_ENST00000342316.4_Silent_p.C216C	p.C216C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	1024	+			216			Cys-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Silent	SNP	ENST00000342316.4	37	c.648C>T	CCDS2225.1																																																																																				0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		30	57	0	0	0	1	0	30	57				
STEAP1B	256227	broad.mit.edu	37	7	22532215	22532215	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:22532215G>A	ENST00000406890.2	-	4	768	c.674C>T	c.(673-675)tCt>tTt	p.S225F	STEAP1B_ENST00000404369.4_Missense_Mutation_p.S244F	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	225						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						CCATGTCAAAGAGTCACTCAC	0.358																																						ENST00000404369.4																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(730-732)tCt>tTt		STEAP family member 1B							27.0	36.0	33.0					7																	22532215		692	1590	2282	SO:0001583	missense	256227					integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:22532215G>A		CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.674C>T	7.37:g.22532215G>A	ENSP00000385239:p.Ser225Phe					STEAP1B_ENST00000406890.2_Missense_Mutation_p.S225F	p.S244F	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN			4	1146	-			225					B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	c.731C>T	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	g	16.26	3.074404	0.55646	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363	D;D;D	0.91180	-2.8;-2.8;-2.8	0.893	0.893	0.19236	Flavoprotein transmembrane component (1);	0.000000	0.43110	U	0.000609	D	0.93019	0.7778	M	0.71036	2.16	0.27057	N	0.963635	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85208	0.1019	10	0.87932	D	0	-10.6706	7.7632	0.28965	0.0:0.0:1.0:0.0	.	244;225	B5MCI2;Q6NZ63	.;STEAL_HUMAN	F	225;244;244	ENSP00000385239:S225F;ENSP00000384370:S244F;ENSP00000416608:S244F	ENSP00000384370:S244F	S	-	2	0	STEAP1B	22498740	0.998000	0.40836	0.996000	0.52242	0.405000	0.30901	4.117000	0.57877	0.816000	0.34421	0.121000	0.15741	TCT		0.358	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			22	23	0	0	0	1	0	22	23				
DHX37	57647	broad.mit.edu	37	12	125435018	125435018	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435018G>A	ENST00000308736.2	-	23	3160	c.3062C>T	c.(3061-3063)cCa>cTa	p.P1021L	DHX37_ENST00000544745.1_Missense_Mutation_p.P808L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGTAGGGGCTGGTTCCTCCAG	0.667																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3061-3063)cCa>cTa		DEAH (Asp-Glu-Ala-His) box polypeptide 37							22.0	28.0	26.0					12																	125435018		2202	4299	6501	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435018G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3062C>T	12.37:g.125435018G>A	ENSP00000311135:p.Pro1021Leu					DHX37_ENST00000544745.1_Missense_Mutation_p.P808L	p.P1021L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3160	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1021					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3062C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861424	0.71949	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03920	3.83;3.76	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.27559	0.0677	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.07712	-1.0758	10	0.62326	D	0.03	-16.8542	18.4511	0.90704	0.0:0.0:1.0:0.0	.	808;1021	F5H3Y4;Q8IY37	.;DHX37_HUMAN	L	1021;808	ENSP00000311135:P1021L;ENSP00000439009:P808L	ENSP00000311135:P1021L	P	-	2	0	DHX37	124000971	1.000000	0.71417	0.939000	0.37840	0.273000	0.26683	9.652000	0.98499	2.360000	0.80028	0.555000	0.69702	CCA		0.667	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		10	43	0	0	0	1	0	10	43				
ZSCAN10	84891	broad.mit.edu	37	16	3140553	3140553	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3140553T>G	ENST00000252463.2	-	5	804	c.717A>C	c.(715-717)gcA>gcC	p.A239A	ZSCAN10_ENST00000538082.2_Silent_p.A157A|ZSCAN10_ENST00000572548.1_3'UTR|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	239					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGACTATCTGCCTGGGACT	0.622																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(715-717)gcA>gcC		zinc finger and SCAN domain containing 10							39.0	44.0	42.0					16																	3140553		2196	4297	6493	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140553T>G	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.717A>C	16.37:g.3140553T>G						ZSCAN10_ENST00000538082.2_Silent_p.A157A|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR	p.A239A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	804	-			239					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.717A>C	CCDS10493.1																																																																																				0.622	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		40	49	0	0	0	1	0	40	49				
SLCO1B7	338821	broad.mit.edu	37	12	21243032	21243032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21243032G>A	ENST00000421593.2	+	13	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E747K|LST3_ENST00000540229.1_Missense_Mutation_p.E747K|LST3_ENST00000381541.3_Missense_Mutation_p.E686K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E686K	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	639						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTCTGCTGAAGAACAGTAAAG	0.323																																						ENST00000540229.1																			0											c.(2239-2241)Gaa>Aaa									32.0	34.0	34.0					12																	21243032		2064	4248	6312	SO:0001583	missense	0							g.chr12:21243032G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1915G>A	12.37:g.21243032G>A	ENSP00000394168:p.Glu639Lys					SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E639K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E747K|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.E686K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E686K	p.E747K							16	2304	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2239G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	12.42	1.931803	0.34096	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.37915	1.18;1.2;1.18;1.2;1.17	2.57	-0.092	0.13658	.	7.295490	0.00496	N	0.000152	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B;B;B	0.34226	0.132;0.443;0.0	B;B;B	0.25884	0.064;0.064;0.0	T	0.07520	-1.0768	10	0.18710	T	0.47	.	2.8166	0.05457	0.2721:0.2618:0.4662:0.0	.	639;686;747	G3V0H7;F5H094;Q5JAR4	.;.;.	K	747;686;747;686;639	ENSP00000451758:E747K;ENSP00000370952:E686K;ENSP00000441269:E747K;ENSP00000452013:E686K;ENSP00000394168:E639K	ENSP00000370952:E686K	E	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134299	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.751000	0.04803	-0.039000	0.13602	0.505000	0.49811	GAA		0.323	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		5	8	0	0	0	1	0	5	8				
KCNH2	3757	broad.mit.edu	37	7	150642493	150642493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150642493G>A	ENST00000262186.5	-	15	3841	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	KCNH2_ENST00000330883.4_Missense_Mutation_p.S807F|KCNH2_ENST00000392968.2_Missense_Mutation_p.S1051F	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1147					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGGGGCTGGGAGGTGAGGGC	0.706																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(3151-3153)tCc>tTc		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						10.0	10.0	10.0					7																	150642493		2173	4278	6451	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150642493G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3440C>T	7.37:g.150642493G>A	ENSP00000262186:p.Ser1147Phe					KCNH2_ENST00000330883.4_Missense_Mutation_p.S807F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S1147F	p.S1051F			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	4272	-	all_neural(206;0.219)		1147					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.3152C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655180	0.67472	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186	D;D;D	0.99070	-5.14;-5.2;-5.39	5.09	4.2	0.49525	.	0.097133	0.43747	D	0.000531	D	0.97776	0.9270	L	0.36672	1.1	0.80722	D	1	D;D;D	0.64830	0.978;0.989;0.994	P;P;P	0.56865	0.601;0.737;0.808	D	0.96310	0.9228	10	0.09843	T	0.71	.	11.4663	0.50241	0.0:0.1821:0.8179:0.0	.	1051;1147;807	C4PFH9;Q12809;Q12809-2	.;KCNH2_HUMAN;.	F	807;1051;1147	ENSP00000328531:S807F;ENSP00000376695:S1051F;ENSP00000262186:S1147F	ENSP00000262186:S1147F	S	-	2	0	KCNH2	150273426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.430000	0.73391	1.114000	0.41781	0.557000	0.71058	TCC		0.706	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		4	3	0	0	0	1	0	4	3				
PGAM4	441531	broad.mit.edu	37	X	77224941	77224941	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77224941C>T	ENST00000458128.1	-	1	194	c.195G>A	c.(193-195)cgG>cgA	p.R65R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	65					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						TCCAGAGGGTCCGGATCACTC	0.607																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(193-195)cgG>cgA		phosphoglycerate mutase family member 4							82.0	79.0	80.0					X																	77224941		2203	4296	6499	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224941C>T	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.195G>A	X.37:g.77224941C>T						ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	p.R65R	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	194	-			65					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.195G>A	CCDS35338.1																																																																																				0.607	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		83	152	0	0	0	1	0	83	152				
TRPM6	140803	broad.mit.edu	37	9	77416931	77416931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77416931C>T	ENST00000360774.1	-	16	2129	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626E|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Missense_Mutation_p.G631E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G626E	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	631					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCCTCCTCTCCATGCTGCCA	0.517																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1891-1893)gGa>gAa		transient receptor potential cation channel, subfamily M, member 6							143.0	115.0	124.0					9																	77416931		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77416931C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1892G>A	9.37:g.77416931C>T	ENSP00000354006:p.Gly631Glu					TRPM6_ENST00000361255.3_Missense_Mutation_p.G626E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631E|TRPM6_ENST00000376872.3_Intron	p.G631E			Q9BX84	TRPM6_HUMAN			16	2129	-			631					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1892G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960026	0.92791	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89853	0.6835	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.92205	0.5771	10	0.87932	D	0	.	18.9117	0.92489	0.0:1.0:0.0:0.0	.	294;631;626	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	E	631;631;626;626;631;294;294	ENSP00000354006:G631E;ENSP00000407341:G631E;ENSP00000396672:G626E;ENSP00000354962:G626E;ENSP00000366060:G631E	ENSP00000309693:G294E	G	-	2	0	TRPM6	76606751	1.000000	0.71417	0.976000	0.42696	0.969000	0.65631	7.772000	0.85439	2.462000	0.83206	0.585000	0.79938	GGA		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		34	13	0	0	0	1	0	34	13				
IGHA2	3494	broad.mit.edu	37	14	106054673	106054673	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106054673C>T	ENST00000390539.2	-	0	59				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CGACCACGTTCCCATCTTGGG	0.632																																						ENST00000390539.2																			0																				62.0	69.0	67.0					14																	106054673		2080	4193	6273			3494							g.chr14:106054673C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054673C>T														0	59	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.632	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		34	50	0	0	0	1	0	34	50				
ZNF112	7771	broad.mit.edu	37	19	44832347	44832347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44832347C>T	ENST00000337401.4	-	5	2069	c.1981G>A	c.(1981-1983)Gga>Aga	p.G661R	ZNF112_ENST00000354340.4_Missense_Mutation_p.G655R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G678R	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTTTTTCTCCTGTGTGAACC	0.453																																						ENST00000354340.4																			0											c.(1963-1965)Gga>Aga		zinc finger protein 112							90.0	93.0	92.0					19																	44832347		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832347C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1981G>A	19.37:g.44832347C>T	ENSP00000337081:p.Gly661Arg					ZNF112_ENST00000337401.4_Missense_Mutation_p.G661R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G678R	p.G655R	NM_013380.3	NP_037512.3					4	2014	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1963G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255605	0.80135	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.26223	1.75;1.75;1.75	5.0	5.0	0.66597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33382	N	0.004969	T	0.52948	0.1766	M	0.75085	2.285	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57539	-0.7794	10	0.87932	D	0	-22.9302	17.4332	0.87544	0.0:1.0:0.0:0.0	.	660;678;661	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	R	661;661;655;678;660	ENSP00000337081:G661R;ENSP00000346305:G655R;ENSP00000441990:G678R	ENSP00000253426:G660R	G	-	1	0	ZNF285	49524187	0.744000	0.28250	1.000000	0.80357	0.994000	0.84299	3.697000	0.54764	2.484000	0.83849	0.655000	0.94253	GGA		0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		40	82	0	0	0	1	0	40	82				
PGR	5241	broad.mit.edu	37	11	100933207	100933207	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100933207G>A	ENST00000325455.5	-	4	3636	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.S134L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	728	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTTGACTACTGAAAGAAGTTG	0.343																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2182-2184)tCa>tTa		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						144.0	134.0	137.0					11																	100933207		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933207G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2183C>T	11.37:g.100933207G>A	ENSP00000325120:p.Ser728Leu					PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.S134L	p.S728L	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	3636	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	728			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2183C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061494	0.76187	.	.	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.96396	-4.0;-4.0	5.97	5.97	0.96955	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.178166	0.51477	D	0.000090	D	0.95595	0.8568	N	0.25380	0.74	0.80722	D	1	D;P	0.60160	0.987;0.922	P;P	0.59643	0.861;0.495	D	0.94662	0.7849	10	0.38643	T	0.18	.	14.7743	0.69713	0.0:0.2529:0.7471:0.0	.	728;109	P06401;A7LQ08	PRGR_HUMAN;.	L	728;134	ENSP00000325120:S728L;ENSP00000436561:S134L	ENSP00000325120:S728L	S	-	2	0	PGR	100438417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.836000	0.97738	0.655000	0.94253	TCA		0.343	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			41	67	0	0	0	1	0	41	67				
XIST	7503	broad.mit.edu	37	X	73067622	73067622	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:73067622C>T	ENST00000429829.1	-	0	4966					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTTCCAGCATCCCTTTCTATA	0.368																																						ENST00000429829.1																			0																				56.0	55.0	56.0					X																	73067622		875	1990	2865			7503							g.chrX:73067622C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73067622C>T								NR_001564.2						0	4966	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.368	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		19	34	0	0	0	1	0	19	34				
DALRD3	55152	broad.mit.edu	37	3	49055218	49055218	+	Silent	SNP	G	G	A	rs375570832	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49055218G>A	ENST00000341949.4	-	3	552	c.546C>T	c.(544-546)gcC>gcT	p.A182A	MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000441576.2_Silent_p.A182A|DALRD3_ENST00000395462.4_Silent_p.A15A|DALRD3_ENST00000313778.5_Silent_p.A15A|NDUFAF3_ENST00000326912.4_5'Flank|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000440857.1_Silent_p.A15A	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	182					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCTCTCCGAGGCAGCGGGCC	0.642													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19193	0.0		0.0	False		,,,				2504	0.0					ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(43-45)gcC>gcT		DALR anticodon binding domain containing 3			,	2,4404	4.2+/-10.8	0,2,2201	44.0	35.0	38.0		546,45	0.6	0.0	3		38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DALRD3	NM_001009996.1,NM_018114.4	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	182/544,15/377	49055218	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49055218G>A	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.546C>T	3.37:g.49055218G>A						DALRD3_ENST00000395462.4_Silent_p.A15A|DALRD3_ENST00000341949.4_Silent_p.A182A|DALRD3_ENST00000441576.2_Silent_p.A182A|DALRD3_ENST00000313778.5_Silent_p.A15A|DALRD3_ENST00000496568.1_5'UTR	p.A15A			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	747	-			182					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	ENST00000341949.4	37	c.45C>T	CCDS33754.1																																																																																				0.642	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		12	24	0	0	0	1	0	12	24				
BMPER	168667	broad.mit.edu	37	7	34125373	34125373	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:34125373G>A	ENST00000297161.2	+	14	1788	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	BMPER_ENST00000426693.1_Missense_Mutation_p.E472K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	472	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTAGGTTTGGAAATATCTTG	0.428																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1414-1416)Gaa>Aaa		BMP binding endothelial regulator							67.0	58.0	61.0					7																	34125373		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125373G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1414G>A	7.37:g.34125373G>A	ENSP00000297161:p.Glu472Lys					BMPER_ENST00000426693.1_Missense_Mutation_p.E472K	p.E472K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			14	1788	+			472			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1414G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575094	0.86542	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.59638	0.25;0.25	5.95	5.95	0.96441	von Willebrand factor, type D domain (3);	0.041961	0.85682	D	0.000000	T	0.43919	0.1269	N	0.11789	0.175	0.80722	D	1	P	0.40398	0.716	B	0.42319	0.383	T	0.31971	-0.9924	10	0.07644	T	0.81	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	472	Q8N8U9	BMPER_HUMAN	K	472	ENSP00000297161:E472K;ENSP00000393950:E472K	ENSP00000297161:E472K	E	+	1	0	BMPER	34091898	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.209000	0.95087	2.826000	0.97356	0.563000	0.77884	GAA		0.428	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		18	16	0	0	0	1	0	18	16				
COL22A1	169044	broad.mit.edu	37	8	139611072	139611072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611072G>A	ENST00000303045.6	-	61	4701	c.4255C>T	c.(4255-4257)Cca>Tca	p.P1419S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1399S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1419	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGTGGCCTGGGATTCCAGGG	0.592										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4255-4257)Cca>Tca		collagen, type XXII, alpha 1							60.0	58.0	59.0					8																	139611072		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611072G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4255C>T	8.37:g.139611072G>A	ENSP00000303153:p.Pro1419Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1399S|COL22A1_ENST00000341807.4_5'UTR	p.P1419S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4701	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1419			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4255C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993017	0.74703	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98649	-5.05;-5.05	5.61	5.61	0.85477	.	0.000000	0.45126	U	0.000396	D	0.98921	0.9634	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99497	1.0952	10	0.37606	T	0.19	.	18.6375	0.91384	0.0:0.0:1.0:0.0	.	1399;1419	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1419;1399;1112	ENSP00000303153:P1419S;ENSP00000387655:P1399S	ENSP00000303153:P1419S	P	-	1	0	COL22A1	139680254	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	9.476000	0.97823	2.638000	0.89438	0.650000	0.86243	CCA		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		27	47	0	0	0	1	0	27	47				
GPATCH3	63906	broad.mit.edu	37	1	27224201	27224201	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27224201G>A	ENST00000361720.5	-	2	490	c.467C>T	c.(466-468)cCc>cTc	p.P156L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	156							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		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;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCTTGAAGGGAAAGGAGCC	0.517																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(466-468)cCc>cTc		G patch domain containing 3							23.0	26.0	25.0					1																	27224201		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27224201G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.467C>T	1.37:g.27224201G>A	ENSP00000354645:p.Pro156Leu						p.P156L	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	490	-		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)	156					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.467C>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206725	0.39003	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.32023	1.47	4.81	4.81	0.61882	.	0.054586	0.85682	D	0.000000	T	0.37679	0.1012	L	0.59436	1.845	0.80722	D	1	D	0.56521	0.976	P	0.46685	0.524	T	0.20505	-1.0273	10	0.41790	T	0.15	-10.9006	16.8494	0.85990	0.0:0.0:1.0:0.0	.	156	Q96I76	GPTC3_HUMAN	L	156	ENSP00000354645:P156L	ENSP00000354645:P156L	P	-	2	0	GPATCH3	27096788	1.000000	0.71417	0.998000	0.56505	0.100000	0.18952	4.037000	0.57311	2.484000	0.83849	0.655000	0.94253	CCC		0.517	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		5	15	0	0	0	1	0	5	15				
ZNF345	25850	broad.mit.edu	37	19	37367893	37367893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37367893G>A	ENST00000529555.1	+	2	949	c.161G>A	c.(160-162)aGa>aAa	p.R54K	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R54K|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54K|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	54					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R54I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACT	0.393																																						ENST00000529555.1																			1	Substitution - Missense(1)	p.R54I(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(160-162)aGa>aAa		zinc finger protein 345							112.0	116.0	115.0					19																	37367893		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37367893G>A	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.161G>A	19.37:g.37367893G>A	ENSP00000431202:p.Arg54Lys					ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R54K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54K	p.R54K			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	949	+	Esophageal squamous(110;0.183)		54						Missense_Mutation	SNP	ENST00000529555.1	37	c.161G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	4.623	0.115839	0.08831	.	.	ENSG00000251247	ENST00000532141;ENST00000420450;ENST00000529555;ENST00000331800	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.37	-3.67	0.04476	.	.	.	.	.	T	0.07324	0.0185	N	0.13299	0.325	0.20873	N	0.999834	B	0.02656	0.0	B	0.04013	0.001	T	0.35943	-0.9768	9	0.32370	T	0.25	.	3.1682	0.06542	0.1673:0.3145:0.3981:0.1201	.	54	Q14585	ZN345_HUMAN	K	54	ENSP00000431289:R54K;ENSP00000431216:R54K;ENSP00000431202:R54K;ENSP00000331120:R54K	ENSP00000331120:R54K	R	+	2	0	ZNF345	42059733	0.000000	0.05858	0.814000	0.32528	0.986000	0.74619	-2.083000	0.01364	-0.377000	0.07930	0.655000	0.94253	AGA		0.393	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			40	59	0	0	0	1	0	40	59				
NBPF10	100132406	broad.mit.edu	37	1	145296495	145296495	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145296495C>T	ENST00000342960.5	+	3	452	c.417C>T	c.(415-417)tcC>tcT	p.S139S	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	139						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGGACAAGTCCCAGGGGCAGG	0.592																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(415-417)tcC>tcT		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145296495C>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.417C>T	1.37:g.145296495C>T						NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron	p.S139S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	452	+	all_hematologic(923;0.032)		139					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.417C>T	CCDS53355.1																																																																																				0.592	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		67	136	0	0	0	1	0	67	136				
ZNF646	9726	broad.mit.edu	37	16	31089074	31089074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31089074C>T	ENST00000394979.2	+	1	1852	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W			O15015	ZN646_HUMAN	zinc finger protein 646	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R477W(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TTACCGCCACCGGGGGAGCCT	0.617																																						ENST00000394979.2																			1	Substitution - Missense(1)	p.R477W(1)	large_intestine(1)	NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(1429-1431)Cgg>Tgg		zinc finger protein 646							73.0	73.0	73.0					16																	31089074		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089074C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1429C>T	16.37:g.31089074C>T	ENSP00000378429:p.Arg477Trp					ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W	p.R477W			O15015	ZN646_HUMAN			1	1852	+			477					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	C	16.35	3.097827	0.56075	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.29917	1.55;1.55	5.63	4.65	0.58169	.	.	.	.	.	T	0.49338	0.1551	L	0.56769	1.78	0.32311	N	0.563732	D	0.89917	1.0	D	0.67231	0.95	T	0.61496	-0.7051	9	0.72032	D	0.01	-18.8794	12.3614	0.55205	0.3165:0.6835:0.0:0.0	.	477	O15015-2	.	W	477	ENSP00000300850:R477W;ENSP00000378429:R477W	ENSP00000300850:R477W	R	+	1	2	ZNF646	30996575	0.925000	0.31364	0.998000	0.56505	0.956000	0.61745	1.087000	0.30865	1.316000	0.45131	0.655000	0.94253	CGG		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		17	18	0	0	0	1	0	17	18				
ZFYVE1	53349	broad.mit.edu	37	14	73464926	73464926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:73464926G>A	ENST00000556143.1	-	3	1301	c.581C>T	c.(580-582)tCt>tTt	p.S194F	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S194F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S194F	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	194					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GAGAGTATGAGACTTTCCATC	0.438																																						ENST00000556143.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(580-582)tCt>tTt		zinc finger, FYVE domain containing 1							56.0	58.0	57.0					14																	73464926		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73464926G>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.581C>T	14.37:g.73464926G>A	ENSP00000450742:p.Ser194Phe					ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S194F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S194F	p.S194F	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1301	-		all_lung(585;1.33e-09)	194					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.581C>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633412	0.87660	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	D;D;D	0.86366	-2.11;-2.11;-2.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.94656	0.8277	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95005	0.8146	10	0.87932	D	0	-17.4649	19.6484	0.95791	0.0:0.0:1.0:0.0	.	194;194	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	F	194	ENSP00000452442:S194F;ENSP00000326921:S194F;ENSP00000450742:S194F	ENSP00000326921:S194F	S	-	2	0	ZFYVE1	72534679	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.869000	0.99810	2.660000	0.90430	0.591000	0.81541	TCT		0.438	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		24	67	0	0	0	1	0	24	67				
WAS	7454	broad.mit.edu	37	X	48549500	48549500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48549500G>A	ENST00000376701.4	+	12	1531	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	486	Asp/Glu-rich (acidic).				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)	p.E486K(1)		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)				CCCTCCAGACGAAGGGGAGGA	0.582			"""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			1	Substitution - Missense(1)	p.E486K(1)	lung(1)	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.(1456-1458)Gaa>Aaa		Wiskott-Aldrich syndrome							215.0	145.0	169.0					X																	48549500		2203	4300	6503	SO:0001583	missense	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:48549500G>A	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.1456G>A	X.37:g.48549500G>A	ENSP00000365891:p.Glu486Lys						p.E486K	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			12	1531	+		all_lung(315;1.27e-10)	486			Asp/Glu-rich (acidic).		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.1456G>A	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706283	0.68615	.	.	ENSG00000015285	ENST00000376701	D	0.95622	-3.76	4.7	4.7	0.59300	Wiscott-Aldrich syndrome, C-terminal (1);	0.066232	0.64402	D	0.000015	D	0.97142	0.9066	M	0.77616	2.38	0.40843	D	0.983688	D	0.76494	0.999	D	0.70716	0.97	D	0.97705	1.0187	10	0.62326	D	0.03	-17.3306	12.3836	0.55322	0.0:0.0:1.0:0.0	.	486	P42768	WASP_HUMAN	K	486	ENSP00000365891:E486K	ENSP00000365891:E486K	E	+	1	0	WAS	48434444	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.925000	0.70062	2.063000	0.61619	0.597000	0.82753	GAA		0.582	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		20	39	0	0	0	1	0	20	39				
SMARCA1	6594	broad.mit.edu	37	X	128602775	128602775	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:128602775G>A	ENST00000371122.4	-	21	2802	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	SMARCA1_ENST00000371121.3_Silent_p.S879S|SMARCA1_ENST00000371123.1_Silent_p.S879S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	891	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CCTCCTCAGGGGATTTGCCCT	0.333																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(2671-2673)tcC>tcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							136.0	119.0	125.0					X																	128602775		2203	4300	6503	SO:0001819	synonymous_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128602775G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2673C>T	X.37:g.128602775G>A						SMARCA1_ENST00000371123.1_Silent_p.S879S|SMARCA1_ENST00000371121.3_Silent_p.S879S	p.S891S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			21	2802	-			891			SANT 1.		Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	c.2673C>T	CCDS14612.1																																																																																				0.333	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		59	52	0	0	0	1	0	59	52				
PLXNB1	5364	broad.mit.edu	37	3	48456348	48456348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48456348G>A	ENST00000358536.4	-	21	4338	c.4069C>T	c.(4069-4071)Ctt>Ttt	p.L1357F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1174F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1174F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1357F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1357	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTGTCAAGGATAAATTCC	0.602																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4069-4071)Ctt>Ttt		plexin B1							65.0	72.0	70.0					3																	48456348		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456348G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4069C>T	3.37:g.48456348G>A	ENSP00000351338:p.Leu1357Phe					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1357F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1174F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1174F	p.L1357F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	4338	-			1357			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4069C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016552	0.75161	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.13	4.26	0.50523	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.83376	0.5241	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.978	T	0.82398	-0.0477	10	0.41790	T	0.15	.	12.5597	0.56273	0.0801:0.0:0.9199:0.0	.	1357;1174	O43157;O43157-2	PLXB1_HUMAN;.	F	1357;1174;1357;1174	ENSP00000296440:L1357F;ENSP00000351242:L1174F;ENSP00000351338:L1357F;ENSP00000414199:L1174F	ENSP00000296440:L1357F	L	-	1	0	PLXNB1	48431352	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	2.986000	0.49370	1.143000	0.42306	0.655000	0.94253	CTT		0.602	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		36	74	0	0	0	1	0	36	74				
LATS2	26524	broad.mit.edu	37	13	21565463	21565463	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:21565463G>A	ENST00000382592.4	-	3	828	c.423C>T	c.(421-423)taC>taT	p.Y141Y	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.Y141Y	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCGGGTCCAGGTAGCCCATCT	0.582																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(421-423)taC>taT		large tumor suppressor kinase 2							118.0	89.0	99.0					13																	21565463		2203	4300	6503	SO:0001819	synonymous_variant	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21565463G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.423C>T	13.37:g.21565463G>A						LATS2_ENST00000542899.1_Silent_p.Y141Y|LATS2_ENST00000472754.1_5'UTR	p.Y141Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	828	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	141						Silent	SNP	ENST00000382592.4	37	c.423C>T	CCDS9294.1																																																																																				0.582	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			21	44	0	0	0	1	0	21	44				
PLA2R1	22925	broad.mit.edu	37	2	160807911	160807911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160807911G>A	ENST00000283243.7	-	24	3686	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	PLA2R1_ENST00000392771.1_Silent_p.F1160F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1160	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAACAGTGAGGAAGGACTGGT	0.433																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(3478-3480)ttC>ttT		phospholipase A2 receptor 1, 180kDa							232.0	213.0	219.0					2																	160807911		2203	4300	6503	SO:0001819	synonymous_variant	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160807911G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3480C>T	2.37:g.160807911G>A						PLA2R1_ENST00000392771.1_Silent_p.F1160F	p.F1160F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			24	3686	-			1160			C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.3480C>T	CCDS33309.1																																																																																				0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			34	63	0	0	0	1	0	34	63				
PCDHB5	26167	broad.mit.edu	37	5	140517377	140517377	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140517377C>T	ENST00000231134.5	+	1	2578	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	787					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTGCTGCCTTCCGGAATA	0.468																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(2359-2361)gcC>gcT									85.0	101.0	96.0					5																	140517377		2190	4294	6484	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517377C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2361C>T	5.37:g.140517377C>T							p.A787A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2578	+			787					Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.2361C>T	CCDS4247.1																																																																																				0.468	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		39	81	0	0	0	1	0	39	81				
FAM127A	8933	broad.mit.edu	37	X	134166728	134166728	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134166728T>C	ENST00000257013.7	+	1	396	c.315T>C	c.(313-315)ttT>ttC	p.F105F	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					AGCGAGTCTTTGGATGGGAGG	0.652																																						ENST00000257013.7																			0				endometrium(3)|urinary_tract(1)	4						c.(313-315)ttT>ttC		family with sequence similarity 127, member A							39.0	40.0	40.0					X																	134166728		2197	4290	6487	SO:0001819	synonymous_variant	8933							g.chrX:134166728T>C	Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.315T>C	X.37:g.134166728T>C						FAM127A_ENST00000464369.1_Intron	p.F105F	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN			1	396	+	Acute lymphoblastic leukemia(192;0.000127)		105					Q6IBF1	Silent	SNP	ENST00000257013.7	37	c.315T>C	CCDS43997.1																																																																																				0.652	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058391.2	NM_001078171		25	37	0	0	0	1	0	25	37				
CSMD3	114788	broad.mit.edu	37	8	113812430	113812430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113812430C>T	ENST00000297405.5	-	13	2177	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	645	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAACACTTTCGTCCGTTTGA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1933-1935)Gaa>Aaa		CUB and Sushi multiple domains 3							141.0	126.0	131.0					8																	113812430		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113812430C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1933G>A	8.37:g.113812430C>T	ENSP00000297405:p.Glu645Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K	p.E645K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2177	-			645			CUB 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1933G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578523	0.86645	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.83	5.83	0.93111	CUB (5);	0.000000	0.64402	D	0.000001	T	0.28267	0.0698	N	0.25647	0.755	0.48452	D	0.999659	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.87578	0.98;0.998;0.635	T	0.01805	-1.1270	10	0.06891	T	0.86	.	20.1236	0.97970	0.0:1.0:0.0:0.0	.	541;645;605	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	605;645;541;645	ENSP00000345799:E605K;ENSP00000297405:E645K;ENSP00000412263:E541K;ENSP00000343124:E645K	ENSP00000297405:E645K	E	-	1	0	CSMD3	113881606	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.647000	0.83462	2.765000	0.95021	0.555000	0.69702	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	50	0	0	0	1	0	24	50				
ADAM21P1	145241	broad.mit.edu	37	14	70713045	70713045	+	RNA	SNP	G	G	A	rs542018285		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70713045G>A	ENST00000530196.1	-	0	1473					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AAAGCACAGGGAGCCCCAGGC	0.488																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713045G>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713045G>A								NR_003951.1						0	1473	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.488	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		20	30	0	0	0	1	0	20	30				
LAMC1	3915	broad.mit.edu	37	1	183072553	183072553	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183072553G>C	ENST00000258341.4	+	2	766	c.509G>C	c.(508-510)gGg>gCg	p.G170A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	170	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CGGGAAGACGGGCCCTGGATT	0.562																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(508-510)gGg>gCg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92.0	91.0	91.0					1																	183072553		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072553G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.509G>C	1.37:g.183072553G>C	ENSP00000258341:p.Gly170Ala						p.G170A	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			2	766	+			170			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.509G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800157	0.90538	.	.	ENSG00000135862	ENST00000258341	T	0.78246	-1.16	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	M	0.76170	2.325	0.80722	D	1	D;P	0.89917	1.0;0.873	D;P	0.91635	0.999;0.731	D	0.83386	0.0015	10	0.15499	T	0.54	.	19.0561	0.93066	0.0:0.0:1.0:0.0	.	170;170	P11047;Q6NVY8	LAMC1_HUMAN;.	A	170	ENSP00000258341:G170A	ENSP00000258341:G170A	G	+	2	0	LAMC1	181339176	1.000000	0.71417	0.996000	0.52242	0.727000	0.41649	9.529000	0.98049	2.501000	0.84356	0.655000	0.94253	GGG		0.562	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		38	54	0	0	0	1	0	38	54				
NDN	4692	broad.mit.edu	37	15	23931733	23931733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23931733C>T	ENST00000331837.4	-	1	717	c.632G>A	c.(631-633)tGg>tAg	p.W211*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	211	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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)		CAGCACGTTCCAGACGGCGCT	0.622									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.(631-633)tGg>tAg		necdin, melanoma antigen (MAGE) family member							28.0	28.0	28.0					15																	23931733		2201	4297	6498	SO:0001587	stop_gained	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.chr15:23931733C>T	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.632G>A	15.37:g.23931733C>T	ENSP00000332643:p.Trp211*						p.W211*	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	717	-		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)	211			MAGE.		B2R6Z5	Nonsense_Mutation	SNP	ENST00000331837.4	37	c.632G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273778	0.95459	.	.	ENSG00000182636	ENST00000331837	.	.	.	3.22	3.22	0.36961	.	0.066669	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2293	0.43245	0.0:1.0:0.0:0.0	.	.	.	.	X	211	.	ENSP00000332643:W211X	W	-	2	0	NDN	21482826	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	3.429000	0.52800	2.114000	0.64651	0.561000	0.74099	TGG		0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		15	18	0	0	0	1	0	15	18				
SLC4A4	8671	broad.mit.edu	37	4	72412180	72412180	+	Silent	SNP	C	C	T	rs112375238		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:72412180C>T	ENST00000264485.5	+	19	2673	c.2556C>T	c.(2554-2556)atC>atT	p.I852I	SLC4A4_ENST00000425175.1_Silent_p.I852I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Silent_p.I808I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	852					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTGCTCACATCGACAGTTTGA	0.478																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2422-2424)atC>atT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							185.0	142.0	157.0					4																	72412180		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412180C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2556C>T	4.37:g.72412180C>T						SLC4A4_ENST00000425175.1_Silent_p.I852I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Silent_p.I852I	p.I808I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		16	2620	+			852					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2424C>T	CCDS43236.1																																																																																				0.478	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		9	39	0	0	0	1	0	9	39				
IQUB	154865	broad.mit.edu	37	7	123092828	123092828	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123092828T>A	ENST00000466202.1	-	13	2921	c.2345A>T	c.(2344-2346)aAg>aTg	p.K782M	IQUB_ENST00000324698.6_Missense_Mutation_p.K782M	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	782					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTATAATCTTAGGTGTTGT	0.398																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(2344-2346)aAg>aTg		IQ motif and ubiquitin domain containing							132.0	127.0	128.0					7																	123092828		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123092828T>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2345A>T	7.37:g.123092828T>A	ENSP00000417769:p.Lys782Met					IQUB_ENST00000324698.6_Missense_Mutation_p.K782M	p.K782M			Q8NA54	IQUB_HUMAN			13	2921	-			782					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.2345A>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068286	0.76301	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.30182	1.54;1.54	5.66	3.2	0.36748	.	0.397541	0.25143	N	0.032815	T	0.46112	0.1376	M	0.70595	2.14	0.23673	N	0.997145	D	0.76494	0.999	D	0.64042	0.921	T	0.26467	-1.0102	10	0.62326	D	0.03	.	6.0239	0.19644	0.0:0.1348:0.1499:0.7153	.	782	Q8NA54	IQUB_HUMAN	M	782	ENSP00000417769:K782M;ENSP00000324882:K782M	ENSP00000324882:K782M	K	-	2	0	IQUB	122880064	0.098000	0.21812	0.259000	0.24435	0.750000	0.42670	1.584000	0.36589	1.029000	0.39812	0.472000	0.43445	AAG		0.398	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		25	29	0	0	0	1	0	25	29				
IQUB	154865	broad.mit.edu	37	7	123152129	123152129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123152129G>A	ENST00000466202.1	-	2	842	c.266C>T	c.(265-267)tCa>tTa	p.S89L	IQUB_ENST00000434450.1_Missense_Mutation_p.S89L|IQUB_ENST00000324698.6_Missense_Mutation_p.S89L|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	89					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CGGAGTATATGAAACTTGTCT	0.388																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(265-267)tCa>tTa		IQ motif and ubiquitin domain containing							230.0	196.0	208.0					7																	123152129		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123152129G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.266C>T	7.37:g.123152129G>A	ENSP00000417769:p.Ser89Leu					IQUB_ENST00000324698.6_Missense_Mutation_p.S89L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.S89L	p.S89L			Q8NA54	IQUB_HUMAN			2	842	-			89					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.266C>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453405	0.26161	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.48201	1.82;1.82;0.82	4.97	-1.48	0.08745	.	6.669200	0.00357	N	0.000023	T	0.33789	0.0875	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15719	0.014;0.002;0.001	B;B;B	0.12156	0.007;0.006;0.002	T	0.08351	-1.0726	10	0.23891	T	0.37	.	5.0116	0.14315	0.4412:0.1497:0.4091:0.0	.	89;89;89	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	L	89	ENSP00000417769:S89L;ENSP00000324882:S89L;ENSP00000388498:S89L	ENSP00000324882:S89L	S	-	2	0	IQUB	122939365	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.000000	0.12993	-0.094000	0.12374	0.650000	0.86243	TCA		0.388	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		41	100	0	0	0	1	0	41	100				
SCRIB	23513	broad.mit.edu	37	8	144887383	144887383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887383G>A	ENST00000320476.3	-	19	2575	c.2569C>T	c.(2569-2571)Ctc>Ttc	p.L857F	SCRIB_ENST00000356994.2_Missense_Mutation_p.L857F|SCRIB_ENST00000377533.3_Missense_Mutation_p.L776F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	857	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGCTGACGGAGGGGCCCGGGG	0.721																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2569-2571)Ctc>Ttc		scribbled planar cell polarity protein							5.0	6.0	6.0					8																	144887383		1974	4035	6009	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144887383G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2569C>T	8.37:g.144887383G>A	ENSP00000322938:p.Leu857Phe					SCRIB_ENST00000320476.3_Missense_Mutation_p.L857F|SCRIB_ENST00000377533.3_Missense_Mutation_p.L776F	p.L857F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		19	2575	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		857			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.2569C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353785	0.24512	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.39592	1.07;1.07;1.07	4.18	0.96	0.19631	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.31451	0.0797	N	0.14661	0.345	0.09310	N	1	P;P	0.47409	0.832;0.895	P;P	0.50896	0.451;0.653	T	0.20739	-1.0266	9	0.12430	T	0.62	.	10.7769	0.46354	0.0:0.4964:0.3751:0.1285	.	857;857	Q14160;Q14160-3	SCRIB_HUMAN;.	F	857;857;776;226	ENSP00000349486:L857F;ENSP00000322938:L857F;ENSP00000366756:L776F	ENSP00000322938:L857F	L	-	1	0	SCRIB	144959371	0.289000	0.24334	0.229000	0.23960	0.087000	0.18053	2.256000	0.43231	0.203000	0.20529	0.442000	0.29010	CTC		0.721	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	5	0	0	0	1	0	5	5				
PRKRIR	5612	broad.mit.edu	37	11	76062454	76062454	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062454G>A	ENST00000260045.3	-	5	1845	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	580					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCACTGTTGGGACACTTAGGG	0.423																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1738-1740)gtC>gtT		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							33.0	32.0	32.0					11																	76062454		2173	4240	6413	SO:0001819	synonymous_variant	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062454G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1740C>T	11.37:g.76062454G>A							p.V580V	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1845	-			580					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Silent	SNP	ENST00000260045.3	37	c.1740C>T	CCDS8243.1																																																																																				0.423	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		24	47	0	0	0	1	0	24	47				
SOX13	9580	broad.mit.edu	37	1	204091058	204091058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204091058C>T	ENST00000367204.1	+	8	915	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	269	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGCACAGCCCCCCTGCCCCA	0.622																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(805-807)cCc>cTc		SRY (sex determining region Y)-box 13							41.0	43.0	42.0					1																	204091058		2013	4178	6191	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204091058C>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.806C>T	1.37:g.204091058C>T	ENSP00000356172:p.Pro269Leu						p.P269L	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	915	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		269			Pro-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.806C>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079022	0.55753	.	.	ENSG00000143842	ENST00000367204	D	0.97850	-4.57	4.95	4.95	0.65309	.	0.165186	0.56097	D	0.000036	D	0.95478	0.8531	L	0.51422	1.61	0.44500	D	0.997446	B;P;P	0.39576	0.22;0.679;0.483	B;B;B	0.33392	0.036;0.1;0.163	D	0.95871	0.8891	10	0.59425	D	0.04	.	15.9637	0.79950	0.0:1.0:0.0:0.0	.	136;136;269	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	L	269	ENSP00000356172:P269L	ENSP00000356172:P269L	P	+	2	0	SOX13	202357681	0.833000	0.29383	0.988000	0.46212	0.945000	0.59286	1.548000	0.36201	2.255000	0.74692	0.561000	0.74099	CCC		0.622	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		12	14	0	0	0	1	0	12	14				
GCAT	23464	broad.mit.edu	37	22	38212608	38212608	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38212608C>T	ENST00000248924.6	+	9	1199	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	GCAT_ENST00000323205.6_Silent_p.V407V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	381					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	ACCCCGTGGTCCCCAAGGGCA	0.612																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1219-1221)gtC>gtT		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						80.0	75.0	77.0					22																	38212608		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38212608C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.1143C>T	22.37:g.38212608C>T						GCAT_ENST00000248924.6_Silent_p.V381V	p.V407V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			9	1284	+	Melanoma(58;0.045)		381					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.1221C>T	CCDS13957.1																																																																																				0.612	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		27	54	0	0	0	1	0	27	54				
ETV1	2115	broad.mit.edu	37	7	13971342	13971342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:13971342G>A	ENST00000430479.1	-	9	1254	c.587C>T	c.(586-588)tCc>tTc	p.S196F	ETV1_ENST00000405192.2_Missense_Mutation_p.S196F|ETV1_ENST00000343495.5_Missense_Mutation_p.S178F|ETV1_ENST00000242066.5_Missense_Mutation_p.S178F|ETV1_ENST00000420159.2_Missense_Mutation_p.S138F|ETV1_ENST00000399357.3_Missense_Mutation_p.S93F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.S178F|ETV1_ENST00000403527.1_Missense_Mutation_p.S156F|ETV1_ENST00000405218.2_Missense_Mutation_p.S196F|ETV1_ENST00000405358.4_Missense_Mutation_p.S210F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	196					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGAGGAAAGGAGTTACAGGG	0.483			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(532-534)tCc>tTc		ets variant 1							96.0	94.0	95.0					7																	13971342		1976	4147	6123	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971342G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.587C>T	7.37:g.13971342G>A	ENSP00000405327:p.Ser196Phe					ETV1_ENST00000405358.4_Missense_Mutation_p.S210F|ETV1_ENST00000242066.5_Missense_Mutation_p.S178F|ETV1_ENST00000405192.2_Missense_Mutation_p.S196F|ETV1_ENST00000420159.2_Missense_Mutation_p.S138F|ETV1_ENST00000403685.1_Missense_Mutation_p.S178F|ETV1_ENST00000430479.1_Missense_Mutation_p.S196F|ETV1_ENST00000405218.2_Missense_Mutation_p.S196F|ETV1_ENST00000399357.3_Missense_Mutation_p.S93F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.S156F	p.S178F			P50549	ETV1_HUMAN			8	1271	-			196					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.533C>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304705	0.95601	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.63843	1.955	0.46437	D	0.999048	D;D;D;D;D;D;D;D	0.71674	0.998;0.958;0.998;0.998;0.998;0.998;0.99;0.966	D;P;D;D;D;D;D;P	0.87578	0.961;0.772;0.961;0.992;0.998;0.996;0.945;0.898	T	0.44251	-0.9340	10	0.66056	D	0.02	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	207;178;210;138;93;156;138;196	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	F	196;178;178;138;93;196;210;156;196;178;138;93	ENSP00000405327:S196F;ENSP00000242066:S178F;ENSP00000340853:S178F;ENSP00000411626:S138F;ENSP00000382293:S93F;ENSP00000385381:S196F;ENSP00000384085:S210F;ENSP00000384138:S156F;ENSP00000385551:S196F;ENSP00000385686:S178F;ENSP00000393078:S138F;ENSP00000394710:S93F	ENSP00000242066:S178F	S	-	2	0	ETV1	13937867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.225000	0.95219	2.932000	0.99384	0.644000	0.83932	TCC		0.483	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		21	19	0	0	0	1	0	21	19				
FAXDC2	10826	broad.mit.edu	37	5	154214494	154214494	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:154214494C>T	ENST00000326080.5	-	3	472	c.49G>A	c.(49-51)Gag>Aag	p.E17K	FAXDC2_ENST00000518651.1_5'UTR|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Splice_Site_p.E17K|FAXDC2_ENST00000517938.1_5'UTR	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	17					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										ATGTGTCCCTCCTGGAGGAGG	0.572																																						ENST00000326080.5																			0											c.e3-1		fatty acid hydroxylase domain containing 2							34.0	38.0	37.0					5																	154214494		2025	4189	6214	SO:0001630	splice_region_variant	10826							g.chr5:154214494C>T	AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.49-1G>A	5.37:g.154214494C>T						FAXDC2_ENST00000520968.1_Splice_Site_p.E17_splice|FAXDC2_ENST00000517938.1_5'UTR|FAXDC2_ENST00000518651.1_5'UTR|FAXDC2_ENST00000523997.1_5'UTR	p.E17_splice	NM_032385.3	NP_115761.2					3	472	-								B4DIE1|Q9BSX6|Q9H8C7	Splice_Site	SNP	ENST00000326080.5	37	c.48_splice	CCDS43390.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271043	0.40194	.	.	ENSG00000170271	ENST00000326080;ENST00000520968;ENST00000520461	T;T;T	0.46819	0.86;0.86;0.86	5.83	4.96	0.65561	.	0.456273	0.24960	N	0.034226	T	0.34337	0.0894	L	0.34521	1.04	0.34361	D	0.690928	B	0.09022	0.002	B	0.06405	0.002	T	0.36480	-0.9746	10	0.07325	T	0.83	.	14.0677	0.64841	0.0:0.9263:0.0:0.0737	.	17	Q96IV6	CE004_HUMAN	K	17	ENSP00000320604:E17K;ENSP00000429406:E17K;ENSP00000431015:E17K	ENSP00000320604:E17K	E	-	1	0	C5orf4	154194687	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	1.668000	0.37481	1.442000	0.47568	0.563000	0.77884	GAG		0.572	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377429.1	NM_032385	Missense_Mutation	3	4	0	0	0	1	0	3	4				
ZNF395	55893	broad.mit.edu	37	8	28218604	28218604	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28218604G>A	ENST00000344423.5	-	2	169	c.38C>T	c.(37-39)tCc>tTc	p.S13F	ZNF395_ENST00000523095.1_Missense_Mutation_p.S13F|ZNF395_ENST00000523202.1_Missense_Mutation_p.S13F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCCCAGGAGGGACCGCTTTCC	0.692																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(37-39)tCc>tTc		zinc finger protein 395							27.0	30.0	29.0					8																	28218604		2192	4281	6473	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218604G>A	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.38C>T	8.37:g.28218604G>A	ENSP00000340494:p.Ser13Phe					ZNF395_ENST00000523202.1_Missense_Mutation_p.S13F|ZNF395_ENST00000523095.1_Missense_Mutation_p.S13F	p.S13F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	169	-		Ovarian(32;2.06e-05)	13					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.38C>T	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686138	0.68157	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185;ENST00000522795;ENST00000517459	T;T;T	0.57907	0.37;0.37;0.37	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75124	-0.3428	10	0.87932	D	0	-31.485	16.4714	0.84112	0.0:0.0:1.0:0.0	.	13	Q9H8N7	ZN395_HUMAN	F	13	ENSP00000340494:S13F;ENSP00000429640:S13F;ENSP00000428452:S13F	ENSP00000340494:S13F	S	-	2	0	ZNF395	28274523	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.830000	0.69324	2.560000	0.86352	0.655000	0.94253	TCC		0.692	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			22	41	0	0	0	1	0	22	41				
ZNF253	56242	broad.mit.edu	37	19	20002339	20002339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002339C>T	ENST00000589717.1	+	4	375	c.283C>T	c.(283-285)Caa>Taa	p.Q95*	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	95					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATTCTTTCCAAATAGGGAT	0.368																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(283-285)Caa>Taa		zinc finger protein 253							40.0	40.0	40.0					19																	20002339		2083	4241	6324	SO:0001587	stop_gained	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002339C>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.283C>T	19.37:g.20002339C>T	ENSP00000468720:p.Gln95*					ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19*	p.Q95*	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	375	+			95					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	c.283C>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	12.27	1.887906	0.33348	.	.	ENSG00000256771	ENST00000355650	.	.	.	1.92	-3.84	0.04256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.3533	0.02177	0.2044:0.4236:0.2033:0.1687	.	.	.	.	X	95	.	.	Q	+	1	0	ZNF253	19863339	0.000000	0.05858	0.026000	0.17262	0.078000	0.17371	-1.575000	0.02131	-0.175000	0.10725	0.298000	0.19748	CAA		0.368	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		10	24	0	0	0	1	0	10	24				
BAGE2	85319	broad.mit.edu	37	21	11047504	11047504	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:11047504G>A	ENST00000470054.1	-	0	750							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGTTGGTTGGTACAGATTTC	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047504G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047504G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	750	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		19	235	0	0	0	1	0	19	235				
ACSM1	116285	broad.mit.edu	37	16	20651842	20651842	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20651842C>T	ENST00000307493.4	-	7	1124	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E353K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	353					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCCACTCCTCCTGATCCTTG	0.562																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1057-1059)Gag>Aag		acyl-CoA synthetase medium-chain family member 1							133.0	102.0	112.0					16																	20651842		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20651842C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1057G>A	16.37:g.20651842C>T	ENSP00000301956:p.Glu353Lys					ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E353K	p.E353K	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			7	1124	-			353					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.1057G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714774	0.48622	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.42900	0.96;0.96	4.74	2.72	0.32119	AMP-dependent synthetase/ligase (1);	0.388557	0.21834	N	0.068436	T	0.34919	0.0914	L	0.45051	1.395	0.19945	N	0.999941	P	0.46952	0.887	P	0.45037	0.467	T	0.12091	-1.0561	10	0.42905	T	0.14	.	6.5622	0.22493	0.0:0.7197:0.1818:0.0985	.	353	Q08AH1	ACSM1_HUMAN	K	353	ENSP00000301956:E353K;ENSP00000428047:E353K	ENSP00000301956:E353K	E	-	1	0	ACSM1	20559343	0.008000	0.16893	0.003000	0.11579	0.008000	0.06430	0.494000	0.22467	0.683000	0.31428	-0.192000	0.12808	GAG		0.562	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		31	43	0	0	0	1	0	31	43				
RPS6KA6	27330	broad.mit.edu	37	X	83402052	83402052	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83402052G>A	ENST00000262752.2	-	5	362	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	119	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCTTTGTCCGAACTCTGTCT	0.289																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(355-357)Cgg>Tgg		ribosomal protein S6 kinase, 90kDa, polypeptide 6							116.0	104.0	108.0					X																	83402052		2203	4296	6499	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83402052G>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.355C>T	X.37:g.83402052G>A	ENSP00000262752:p.Arg119Trp					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W	p.R119W	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			5	362	-			119			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.355C>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910229	0.72983	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.66815	-0.23;-0.23	4.69	3.83	0.44106	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.80661	-0.1283	10	0.87932	D	0	.	11.7339	0.51755	0.0905:0.0:0.9095:0.0	.	119;119	B7ZL90;Q9UK32	.;KS6A6_HUMAN	W	119	ENSP00000262752:R119W;ENSP00000440830:R119W	ENSP00000262752:R119W	R	-	1	2	RPS6KA6	83288708	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	8.824000	0.92023	0.760000	0.33108	0.415000	0.27848	CGG		0.289	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		33	47	0	0	0	1	0	33	47				
HBG2	3048	broad.mit.edu	37	11	5274590	5274590	+	Nonsense_Mutation	SNP	T	T	A	rs34703519		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5274590T>A	ENST00000380259.2	-	8	1601	c.361A>T	c.(361-363)Aaa>Taa	p.K121*	HBG2_ENST00000336906.4_Nonsense_Mutation_p.K121*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.K111*			P69892	HBG2_HUMAN	hemoglobin, gamma G	121			K -> Q (in Caltech; dbSNP:rs34703519). {ECO:0000269|PubMed:6186635}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATTCTTTGCCGAAATGG	0.522																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(361-363)Aaa>Taa		hemoglobin, gamma G							65.0	58.0	60.0					11																	5274590		2201	4295	6496	SO:0001587	stop_gained	3048							g.chr11:5274590T>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.361A>T	11.37:g.5274590T>A	ENSP00000369609:p.Lys121*					HBG2_ENST00000336906.4_Nonsense_Mutation_p.K121*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.K111*	p.K121*						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	1601	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Nonsense_Mutation	SNP	ENST00000380259.2	37	c.361A>T	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250292	0.59212	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	.	.	.	3.81	2.68	0.31781	.	0.830274	0.10606	U	0.655007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.737	0.18071	0.0:0.1243:0.0:0.8757	.	.	.	.	X	111;121;121;121	.	ENSP00000338082:K121X	K	-	1	0	HBG2	5231166	0.000000	0.05858	0.005000	0.12908	0.021000	0.10359	0.008000	0.13197	0.627000	0.30340	0.482000	0.46254	AAA		0.522	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		26	43	0	0	0	1	0	26	43				
TRIM60	166655	broad.mit.edu	37	4	165962293	165962293	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:165962293G>A	ENST00000512596.1	+	3	1285	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	TRIM60_ENST00000341062.5_Missense_Mutation_p.G357R|TRIM60_ENST00000508504.1_Missense_Mutation_p.G357R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	357	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGTAGAAGTGGGAAACAAACC	0.473																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1069-1071)Gga>Aga		tripartite motif containing 60							113.0	115.0	115.0					4																	165962293		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962293G>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1069G>A	4.37:g.165962293G>A	ENSP00000421142:p.Gly357Arg					TRIM60_ENST00000508504.1_Missense_Mutation_p.G357R|TRIM60_ENST00000341062.5_Missense_Mutation_p.G357R	p.G357R	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1285	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	357			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.1069G>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244808	0.59103	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.63096	-0.02;-0.02;-0.02	2.69	1.83	0.25207	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.345850	0.17977	U	0.155673	T	0.55353	0.1915	M	0.61387	1.9	0.30596	N	0.761031	P	0.35107	0.484	B	0.37888	0.26	T	0.53085	-0.8488	10	0.24483	T	0.36	.	7.6756	0.28484	0.1365:0.0:0.8635:0.0	.	357	Q495X7	TRI60_HUMAN	R	357	ENSP00000421142:G357R;ENSP00000426496:G357R;ENSP00000343765:G357R	ENSP00000343765:G357R	G	+	1	0	TRIM60	166181743	0.996000	0.38824	0.205000	0.23548	0.302000	0.27658	2.572000	0.45999	0.680000	0.31366	0.655000	0.94253	GGA		0.473	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		33	40	0	0	0	1	0	33	40				
GNAT1	2779	broad.mit.edu	37	3	50230823	50230823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50230823G>A	ENST00000433068.1	+	3	331	c.275G>A	c.(274-276)gGa>gAa	p.G92E	GNAT1_ENST00000232461.3_Missense_Mutation_p.G92E	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	92					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCCAGTACGGAGACTCTGCA	0.647																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(274-276)gGa>gAa		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1							68.0	59.0	62.0					3																	50230823		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50230823G>A		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.275G>A	3.37:g.50230823G>A	ENSP00000387555:p.Gly92Glu					GNAT1_ENST00000433068.1_Missense_Mutation_p.G92E	p.G92E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	389	+			92					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.275G>A	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410805	0.62399	.	.	ENSG00000114349	ENST00000232461;ENST00000433068;ENST00000440836	T;T;T	0.38401	1.14;1.14;1.14	5.33	5.33	0.75918	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.05467	-0.045	0.80722	D	1	B	0.16603	0.018	B	0.25884	0.064	T	0.05954	-1.0854	10	0.32370	T	0.25	.	17.7929	0.88561	0.0:0.0:1.0:0.0	.	92	P11488	GNAT1_HUMAN	E	92;92;44	ENSP00000232461:G92E;ENSP00000387555:G92E;ENSP00000403537:G44E	ENSP00000232461:G92E	G	+	2	0	GNAT1	50205827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.301000	0.72782	2.503000	0.84419	0.561000	0.74099	GGA		0.647	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		26	30	0	0	0	1	0	26	30				
LRRTM4	80059	broad.mit.edu	37	2	77746694	77746694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:77746694C>T	ENST00000409093.1	-	3	637	c.301G>A	c.(301-303)Gat>Aat	p.D101N	LRRTM4_ENST00000409088.3_Missense_Mutation_p.D101N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D101N|LRRTM4_ENST00000409282.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D102N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	101					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCATCTTCATCCACTGAGCTA	0.373																																						ENST00000409088.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64						c.(301-303)Gat>Aat		leucine rich repeat transmembrane neuronal 4							142.0	131.0	134.0					2																	77746694		1871	4105	5976	SO:0001583	missense	80059					integral to membrane		g.chr2:77746694C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.301G>A	2.37:g.77746694C>T	ENSP00000386357:p.Asp101Asn					LRRTM4_ENST00000409282.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D101N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D101N	p.D101N	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	715	-			101					Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.301G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226627	0.79576	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	L	0.41906	1.305	0.80722	D	1	D;D;D	0.60160	0.987;0.983;0.987	P;P;P	0.61477	0.889;0.823;0.889	T	0.60214	-0.7307	10	0.45353	T	0.12	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	102;101;101	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	N	102;101;101;101;102	ENSP00000387228:D102N;ENSP00000387297:D101N;ENSP00000386357:D101N;ENSP00000386236:D101N;ENSP00000386286:D102N	ENSP00000386236:D101N	D	-	1	0	LRRTM4	77600202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT		0.373	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		17	45	0	0	0	1	0	17	45				
TMED8	283578	broad.mit.edu	37	14	77812760	77812760	+	Missense_Mutation	SNP	G	G	A	rs368525980		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812760G>A	ENST00000216468.7	-	3	314	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCCTCCAAAGGACCAGTTGCT	0.512																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(259-261)Cct>Tct		transmembrane emp24 protein transport domain containing 8		G	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	102.0	100.0	101.0		259	1.7	0.0	14		101	2,8598	2.2+/-6.3	0,2,4298	no	missense	TMED8	NM_213601.1	74	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	87/326	77812760	3,13003	2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812760G>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.259C>T	14.37:g.77812760G>A	ENSP00000216468:p.Pro87Ser						p.P87S	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	314	-			87					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.259C>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	4.703	0.130796	0.08981	2.27E-4	2.33E-4	ENSG00000100580	ENST00000216468	T	0.20598	2.06	5.57	1.71	0.24356	.	0.497588	0.24818	N	0.035349	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27502	-1.0072	10	0.32370	T	0.25	-2.6262	5.2254	0.15391	0.0:0.5183:0.1435:0.3381	.	87	Q6PL24	TMED8_HUMAN	S	87	ENSP00000216468:P87S	ENSP00000216468:P87S	P	-	1	0	TMED8	76882513	0.000000	0.05858	0.034000	0.17996	0.006000	0.05464	-0.395000	0.07287	0.044000	0.15775	-0.128000	0.14901	CCT		0.512	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		21	51	0	0	0	1	0	21	51				
RBM12B	389677	broad.mit.edu	37	8	94747912	94747912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94747912C>T	ENST00000399300.2	-	3	940	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.E243K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	243							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACGTCACCCTCCTTAACTGCA	0.378																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(727-729)Gag>Aag		RNA binding motif protein 12B							154.0	145.0	148.0					8																	94747912		1921	4129	6050	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747912C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.727G>A	8.37:g.94747912C>T	ENSP00000382239:p.Glu243Lys					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.E243K	p.E243K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	940	-	Breast(36;4.14e-07)		243					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.727G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.333497	0.01298	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06449	3.31;3.3	5.35	0.915	0.19366	.	0.363501	0.23764	N	0.044793	T	0.01695	0.0054	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42498	-0.9448	10	0.19147	T	0.46	-2.8782	0.3028	0.00275	0.1892:0.2541:0.215:0.3418	.	243	Q8IXT5	RB12B_HUMAN	K	243	ENSP00000382239:E243K;ENSP00000427729:E243K	ENSP00000382239:E243K	E	-	1	0	RBM12B	94817088	0.000000	0.05858	0.051000	0.19133	0.557000	0.35523	-0.061000	0.11693	0.332000	0.23536	0.585000	0.79938	GAG		0.378	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		51	81	0	0	0	1	0	51	81				
TTLL12	23170	broad.mit.edu	37	22	43576771	43576771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43576771G>A	ENST00000216129.6	-	3	586	c.523C>T	c.(523-525)Cag>Tag	p.Q175*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	175					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGGTAGGTCTGGTTGAACTTC	0.652																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(523-525)Cag>Tag		tubulin tyrosine ligase-like family, member 12							101.0	88.0	93.0					22																	43576771		2203	4300	6503	SO:0001587	stop_gained	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576771G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.523C>T	22.37:g.43576771G>A	ENSP00000216129:p.Gln175*						p.Q175*	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	586	-		Ovarian(80;0.221)|Glioma(61;0.222)	175					Q20WK5|Q9UGU3	Nonsense_Mutation	SNP	ENST00000216129.6	37	c.523C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	38	6.767473	0.97825	.	.	ENSG00000100304	ENST00000216129;ENST00000357017;ENST00000423379	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-30.7652	18.7756	0.91910	0.0:0.0:1.0:0.0	.	.	.	.	X	175	.	ENSP00000216129:Q175X	Q	-	1	0	TTLL12	41906715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.653000	0.98506	2.432000	0.82394	0.561000	0.74099	CAG		0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		58	93	0	0	0	1	0	58	93				
HMCN1	83872	broad.mit.edu	37	1	186084396	186084396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186084396C>T	ENST00000271588.4	+	75	11640	c.11411C>T	c.(11410-11412)cCa>cTa	p.P3804L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P3804L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3804	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAGTTCCTCCATCTATTGCT	0.388																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11410-11412)cCa>cTa		hemicentin 1							170.0	157.0	162.0					1																	186084396		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186084396C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11411C>T	1.37:g.186084396C>T	ENSP00000271588:p.Pro3804Leu					HMCN1_ENST00000367492.2_Missense_Mutation_p.P3804L	p.P3804L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			75	11640	+			3804			Ig-like C2-type 37.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11411C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797157	0.90538	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.92348	-3.02;-3.02	5.54	5.54	0.83059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097924	0.64402	D	0.000001	D	0.96867	0.8977	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97301	0.9931	10	0.87932	D	0	.	18.0221	0.89258	0.0:1.0:0.0:0.0	.	3804	Q96RW7	HMCN1_HUMAN	L	3804	ENSP00000271588:P3804L;ENSP00000356462:P3804L	ENSP00000271588:P3804L	P	+	2	0	HMCN1	184351019	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.746000	0.85057	2.767000	0.95098	0.561000	0.74099	CCA		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		24	85	0	0	0	1	0	24	85				
KIF1C	10749	broad.mit.edu	37	17	4923830	4923830	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923830C>T	ENST00000320785.5	+	20	2151	c.1794C>T	c.(1792-1794)aaC>aaT	p.N598N	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	598					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCCGCTTCAACCACCCGGAGC	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(1792-1794)aaC>aaT		kinesin family member 1C							48.0	49.0	49.0					17																	4923830		2203	4300	6503	SO:0001819	synonymous_variant	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4923830C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1794C>T	17.37:g.4923830C>T						KIF1C_ENST00000573815.1_3'UTR	p.N598N	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			20	2151	+			598					D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	c.1794C>T	CCDS11065.1																																																																																				0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			20	41	0	0	0	1	0	20	41				
TTLL5	23093	broad.mit.edu	37	14	76245981	76245981	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:76245981C>T	ENST00000298832.9	+	24	2656	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000554510.1_Silent_p.F326F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	817					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTAGTGTCTTCCTGGGGACTC	0.393																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2449-2451)ttC>ttT		tubulin tyrosine ligase-like family, member 5							96.0	95.0	95.0					14																	76245981		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76245981C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2451C>T	14.37:g.76245981C>T						TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000554510.1_Silent_p.F326F	p.F817F	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	24	2656	+			817					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.2451C>T	CCDS32124.1																																																																																				0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		25	46	0	0	0	1	0	25	46				
AGT	183	broad.mit.edu	37	1	230838923	230838923	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230838923G>A	ENST00000366667.4	-	5	1636	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	474					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGCGGCCCAGGAAGTGCAGGG	0.607																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(1420-1422)ttC>ttT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						106.0	95.0	99.0					1																	230838923		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230838923G>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1422C>T	1.37:g.230838923G>A							p.F474F	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	5	1636	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	474					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.1422C>T	CCDS1585.1																																																																																				0.607	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		31	30	0	0	0	1	0	31	30				
POTEE	445582	broad.mit.edu	37	2	132021425	132021425	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:132021425G>A	ENST00000356920.5	+	15	2491	c.2397G>A	c.(2395-2397)gaG>gaA	p.E799E	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	799	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGGCTCCCGAGGAGCACCCCA	0.582																																						ENST00000356920.5																			0											c.(2395-2397)gaG>gaA		POTE ankyrin domain family, member E							71.0	73.0	72.0					2																	132021425		2201	4296	6497	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021425G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2397G>A	2.37:g.132021425G>A						PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	p.E799E	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2491	+			799			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2397G>A	CCDS46414.1																																																																																				0.582	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		61	109	0	0	0	1	0	61	109				
ADCK1	57143	broad.mit.edu	37	14	78390908	78390908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:78390908G>A	ENST00000238561.5	+	8	1066	c.967G>A	c.(967-969)Gga>Aga	p.G323R	ADCK1_ENST00000341211.5_Missense_Mutation_p.G255R|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	330	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCCCGGCACGGGAAAGGCGGA	0.582																																						ENST00000238561.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25						c.(967-969)Gga>Aga		aarF domain containing kinase 1							84.0	80.0	81.0					14																	78390908		2203	4300	6503	SO:0001583	missense	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78390908G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.967G>A	14.37:g.78390908G>A	ENSP00000238561:p.Gly323Arg					ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G255R	p.G323R	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	8	1066	+			330			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	c.967G>A	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274589	0.40194	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.29917	1.55;1.55	5.82	4.92	0.64577	Protein kinase-like domain (1);	0.483083	0.26359	N	0.024832	T	0.29423	0.0733	L	0.58354	1.805	0.09310	N	0.999997	B;B;B	0.26602	0.044;0.026;0.154	B;B;B	0.28709	0.039;0.046;0.093	T	0.10776	-1.0615	10	0.27082	T	0.32	-9.961	10.6895	0.45862	0.0697:0.1303:0.8:0.0	.	330;255;323	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	R	323;255	ENSP00000238561:G323R;ENSP00000339663:G255R	ENSP00000238561:G323R	G	+	1	0	ADCK1	77460661	0.973000	0.33851	0.179000	0.23059	0.679000	0.39708	2.224000	0.42945	2.761000	0.94854	0.655000	0.94253	GGA		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		33	47	0	0	0	1	0	33	47				
SRPX	8406	broad.mit.edu	37	X	38033500	38033500	+	Missense_Mutation	SNP	G	G	A	rs376876804		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:38033500G>A	ENST00000378533.3	-	3	368	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.R75C|SRPX_ENST00000538295.1_Missense_Mutation_p.R88C|SRPX_ENST00000432886.2_Missense_Mutation_p.R88C|SRPX_ENST00000544439.1_Missense_Mutation_p.R68C	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	88	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCTGGCAGCGAATGTCGCAC	0.557																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(262-264)Cgc>Tgc		sushi-repeat containing protein, X-linked		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3833		0,0,0,1631,571	142.0	102.0	115.0		202,262,262,262	5.7	1.0	X		115	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	180,180,180,180	0,0,1,4059,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	68/445,88/406,88/380,88/465	38033500	1,10560	2202	4300	6502	SO:0001583	missense	8406				cell adhesion	cell surface|membrane		g.chrX:38033500G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.262C>T	X.37:g.38033500G>A	ENSP00000367794:p.Arg88Cys					SRPX_ENST00000432886.2_Missense_Mutation_p.R88C|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.R75C|SRPX_ENST00000544439.1_Missense_Mutation_p.R68C|SRPX_ENST00000538295.1_Missense_Mutation_p.R88C	p.R88C	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			3	368	-			88			Sushi 1.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	c.262C>T	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389730	0.82902	0.0	1.49E-4	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.65916	1.85;-0.18;1.85;1.85;1.8	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.091907	0.85682	D	0.000000	T	0.79240	0.4412	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;P;D	0.74674	0.921;0.984;0.897;0.966	T	0.82028	-0.0660	10	0.72032	D	0.01	-14.2099	12.2306	0.54486	0.0794:0.0:0.9206:0.0	.	88;88;68;88	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	C	68;88;88;88;75	ENSP00000440758:R68C;ENSP00000411165:R88C;ENSP00000445034:R88C;ENSP00000367794:R88C;ENSP00000339211:R75C	ENSP00000339211:R75C	R	-	1	0	SRPX	37918444	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.997000	0.70646	2.388000	0.81334	0.600000	0.82982	CGC		0.557	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		21	42	0	0	0	1	0	21	42				
COL4A5	1287	broad.mit.edu	37	X	107834372	107834372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107834372C>T	ENST00000361603.2	+	20	1494	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	COL4A5_ENST00000328300.6_Missense_Mutation_p.S417F	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	417	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTGGAATTTCCATTCCTGGA	0.557									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1249-1251)tCc>tTc		collagen, type IV, alpha 5							76.0	77.0	76.0					X																	107834372		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834372C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1250C>T	X.37:g.107834372C>T	ENSP00000354505:p.Ser417Phe					COL4A5_ENST00000361603.2_Missense_Mutation_p.S417F	p.S417F	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			20	1494	+			417			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1250C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.659276	0.47467	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.91521	-2.86;-2.67	5.26	3.42	0.39159	.	0.194437	0.45867	D	0.000329	D	0.92896	0.7740	M	0.72118	2.19	0.36013	D	0.838179	P;P;P	0.46512	0.739;0.879;0.739	P;P;P	0.54210	0.54;0.745;0.54	D	0.93801	0.7101	10	0.51188	T	0.08	.	14.6074	0.68489	0.0:0.7232:0.2768:0.0	.	417;25;417	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	F	417	ENSP00000331902:S417F;ENSP00000354505:S417F	ENSP00000331902:S417F	S	+	2	0	COL4A5	107721028	0.032000	0.19561	0.938000	0.37757	0.946000	0.59487	1.446000	0.35090	0.402000	0.25451	-0.344000	0.07964	TCC		0.557	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			66	61	0	0	0	1	0	66	61				
IGHV3-53	28420	broad.mit.edu	37	14	107048711	107048711	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107048711G>A	ENST00000390627.2	-	0	529									immunoglobulin heavy variable 3-53																		CGGCTCTCAGGCTGTTCATTT	0.537																																						ENST00000390627.2																			0																				109.0	128.0	121.0					14																	107048711		2094	4265	6359			28420							g.chr14:107048711G>A	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048711G>A														0	529	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.537	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		74	86	0	0	0	1	0	74	86				
HSD3B1	3283	broad.mit.edu	37	1	120056552	120056552	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120056552G>A	ENST00000369413.3	+	4	551	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K|HSD3B1_ENST00000235547.6_Missense_Mutation_p.E138K			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	136					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)	CTCCTACAAGGAAATCATCCA	0.537																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(412-414)Gaa>Aaa		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						140.0	143.0	142.0					1																	120056552		2203	4300	6503	SO:0001583	missense	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.chr1:120056552G>A	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.406G>A	1.37:g.120056552G>A	ENSP00000358421:p.Glu136Lys					HSD3B1_ENST00000369413.3_Missense_Mutation_p.E136K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K	p.E138K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	551	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	136					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.412G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	7.717	0.696396	0.15106	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.84070	-1.8;-1.8;-1.8	3.7	1.74	0.24563	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.385105	0.30575	N	0.009323	T	0.55210	0.1906	L	0.38733	1.17	0.20873	N	0.999832	B;B	0.18013	0.025;0.011	B;B	0.24006	0.05;0.023	T	0.48747	-0.9008	10	0.26408	T	0.33	-8.7437	7.8696	0.29558	0.2254:0.0:0.7746:0.0	.	138;136	Q5TDG2;P14060	.;3BHS1_HUMAN	K	136;138;136	ENSP00000358421:E136K;ENSP00000235547:E138K;ENSP00000432268:E136K	ENSP00000235547:E138K	E	+	1	0	HSD3B1	119858075	1.000000	0.71417	0.177000	0.23020	0.165000	0.22458	4.806000	0.62569	0.838000	0.34948	0.491000	0.48974	GAA		0.537	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		40	133	0	0	0	1	0	40	133				
BRINP3	339479	broad.mit.edu	37	1	190067661	190067661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:190067661C>T	ENST00000367462.3	-	8	2019	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.W494*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	596					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TAGTCCGCTCCCAGTCTGGAA	0.478																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1786-1788)tgG>tgA									182.0	188.0	186.0					1																	190067661		2203	4300	6503	SO:0001587	stop_gained	339479					extracellular region		g.chr1:190067661C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1788G>A	1.37:g.190067661C>T	ENSP00000356432:p.Trp596*					FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W494*|FAM5C_ENST00000484105.1_5'UTR	p.W596*	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	2019	-	Prostate(682;0.198)		596					B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	c.1788G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	36	5.697681	0.96802	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.61	4.68	0.58851	.	0.062477	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.181	0.65574	0.0:0.8488:0.1512:0.0	.	.	.	.	X	596;494	.	ENSP00000356432:W596X	W	-	3	0	FAM5C	188334284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.734000	0.84928	1.339000	0.45563	0.585000	0.79938	TGG		0.478	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		79	69	0	0	0	1	0	79	69				
C12orf29	91298	broad.mit.edu	37	12	88440660	88440660	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:88440660G>A	ENST00000356891.3	+	6	899	c.696G>A	c.(694-696)ttG>ttA	p.L232L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	232					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						TACCTTCATTGAAGCACAATG	0.383																																						ENST00000356891.3																			0				large_intestine(3)|lung(1)|ovary(1)	5						c.(694-696)ttG>ttA		chromosome 12 open reading frame 29							184.0	171.0	175.0					12																	88440660		2203	4300	6503	SO:0001819	synonymous_variant	91298							g.chr12:88440660G>A	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.696G>A	12.37:g.88440660G>A						C12orf29_ENST00000548757.2_3'UTR	p.L232L	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN			6	899	+			232					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Silent	SNP	ENST00000356891.3	37	c.696G>A	CCDS31866.1																																																																																				0.383	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		139	34	0	0	0	1	0	139	34				
CFHR2	3080	broad.mit.edu	37	1	196876487	196876487	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:196876487G>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.G219R|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TATTAGCAATGGAGATACCAC	0.403																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(655-657)Gga>Aga		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196876487G>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-42098G>A	1.37:g.196876487G>A						CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron	p.G219R	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					5	792	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.655G>A		.	.	.	.	.	.	.	.	.	.	.	17.75	3.466544	0.63625	.	.	ENSG00000134365	ENST00000367416	T	0.58940	0.3	3.65	3.65	0.41850	.	.	.	.	.	D	0.86703	0.5996	H	0.99884	4.89	0.24874	N	0.992265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79697	-0.1695	9	0.87932	D	0	.	11.1619	0.48520	0.0:0.0:1.0:0.0	.	219;220	C9J7J7;Q5DVJ7	.;.	R	219	ENSP00000356386:G219R	ENSP00000356386:G219R	G	+	1	0	CFHR4	195143110	1.000000	0.71417	0.658000	0.29665	0.066000	0.16364	3.876000	0.56115	1.773000	0.52216	0.536000	0.68110	GGA		0.403	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		8	46	0	0	0	1	0	8	46				
IDH3G	3421	broad.mit.edu	37	X	153051682	153051682	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153051682G>A	ENST00000217901.5	-	12	1261	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000427365.2_Silent_p.S297S|IDH3G_ENST00000370092.3_Silent_p.S355S	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	355					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CATTGTCCATGGATGCCAGGA	0.647																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(1063-1065)tcC>tcT		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						92.0	78.0	82.0					X																	153051682		2203	4299	6502	SO:0001819	synonymous_variant	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153051682G>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.1065C>T	X.37:g.153051682G>A						IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000217901.5_Silent_p.S355S|IDH3G_ENST00000427365.2_Silent_p.S297S	p.S355S	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			12	1250	-	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		355					E9PDD5|Q9BUU5	Silent	SNP	ENST00000217901.5	37	c.1065C>T	CCDS14730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.926|6.926	0.540524|0.540524	0.13250|0.13250	.|.	.|.	ENSG00000067829|ENSG00000067829	ENST00000454076|ENST00000424541	.|.	.|.	.|.	5.46|5.46	3.5|3.5	0.40072|0.40072	.|.	.|.	.|.	.|.	.|.	T|T	0.54078|0.54078	0.1836|0.1836	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49762|0.49762	-0.8905|-0.8905	4|4	.|.	.|.	.|.	.|.	5.2405|5.2405	0.15469|0.15469	0.1967:0.0:0.6245:0.1788|0.1967:0.0:0.6245:0.1788	.|.	.|.	.|.	.|.	Y|L	161|117	.|.	.|.	H|P	-|-	1|2	0|0	IDH3G|IDH3G	152704876|152704876	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.680000|0.680000	0.39746|0.39746	0.311000|0.311000	0.19380|0.19380	1.083000|1.083000	0.41159|0.41159	0.431000|0.431000	0.28591|0.28591	CAT|CCA		0.647	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			27	47	0	0	0	1	0	27	47				
DNAAF3	352909	broad.mit.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55672075C>T	ENST00000524407.2	-	9	1014	c.981G>A	c.(979-981)gcG>gcA	p.A327A	TNNI3_ENST00000344887.5_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.A395A|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.A273A|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000391720.4_Silent_p.A374A|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	327					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGTGGCTCTCGCGCGCCCCC	0.682											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527223.2																			0											c.(1183-1185)gcG>gcA		dynein, axonemal, assembly factor 3							56.0	59.0	58.0					19																	55672075		1910	4113	6023	SO:0001819	synonymous_variant	352909							g.chr19:55672075C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.981G>A	19.37:g.55672075C>T			OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	DNAAF3_ENST00000524407.2_Silent_p.A327A|DNAAF3_ENST00000391720.4_Silent_p.A374A|DNAAF3_ENST00000455045.1_Silent_p.A273A|CTD-2587H24.5_ENST00000591665.1_RNA	p.A395A	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			9	1186	-			327					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.1185G>A	CCDS59422.1																																																																																				0.682	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		44	70	0	0	0	1	0	44	70				
ST7L	54879	broad.mit.edu	37	1	113143419	113143419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113143419C>T	ENST00000358039.4	-	4	807	c.503G>A	c.(502-504)aGg>aAg	p.R168K	ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.R151K|ST7L_ENST00000369668.2_Missense_Mutation_p.R168K|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000360743.4_Missense_Mutation_p.R168K|ST7L_ENST00000544629.1_Missense_Mutation_p.R168K|ST7L_ENST00000343210.7_Missense_Mutation_p.R168K|ST7L_ENST00000369666.1_Missense_Mutation_p.R151K|ST7L_ENST00000490067.1_Missense_Mutation_p.R151K|ST7L_ENST00000538187.1_Missense_Mutation_p.R112K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	168					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATACCTCCTATATTCTGC	0.328																																						ENST00000358039.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15						c.(502-504)aGg>aAg		suppression of tumorigenicity 7 like							65.0	68.0	67.0					1																	113143419		2202	4300	6502	SO:0001583	missense	54879				negative regulation of cell growth	integral to membrane	binding	g.chr1:113143419C>T	AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.503G>A	1.37:g.113143419C>T	ENSP00000350734:p.Arg168Lys					ST7L_ENST00000544629.1_Missense_Mutation_p.R168K|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000369668.2_Missense_Mutation_p.R168K|ST7L_ENST00000369666.1_Missense_Mutation_p.R151K|ST7L_ENST00000343210.7_Missense_Mutation_p.R168K|ST7L_ENST00000360743.4_Missense_Mutation_p.R168K|ST7L_ENST00000538187.1_Missense_Mutation_p.R112K|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.R151K|ST7L_ENST00000490067.1_Missense_Mutation_p.R151K	p.R168K	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	807	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	168					A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation	SNP	ENST00000358039.4	37	c.503G>A	CCDS848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.112754|3.112754	0.56398|0.56398	.|.	.|.	ENSG00000007341|ENSG00000007341	ENST00000418497|ENST00000358039;ENST00000360743;ENST00000369673;ENST00000544629;ENST00000490067;ENST00000369668;ENST00000343210;ENST00000369666;ENST00000538187;ENST00000543570;ENST00000369665;ENST00000369664	.|T;T;T;T;T;T;T;T;T;T	.|0.16597	.|2.35;2.35;2.33;2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.39|5.39	4.48|4.48	0.54585|0.54585	.|.	.|0.170023	.|0.64402	.|N	.|0.000006	T|T	0.04907|0.04907	0.0132|0.0132	N|N	0.19112|0.19112	0.55|0.55	0.31472|0.31472	N|N	0.668287|0.668287	.|B;B;B;B;B;B;B;B	.|0.29085	.|0.232;0.12;0.061;0.03;0.104;0.055;0.195;0.068	.|B;B;B;B;B;B;B;B	.|0.34093	.|0.102;0.175;0.089;0.043;0.062;0.061;0.061;0.102	T|T	0.24261|0.24261	-1.0165|-1.0165	5|10	.|0.44086	.|T	.|0.13	.|.	9.8073|9.8073	0.40801|0.40801	0.0:0.8425:0.0:0.1575|0.0:0.8425:0.0:0.1575	.|.	.|151;112;168;168;151;151;168;168	.|B7Z8V6;B7Z7D4;F5H2P3;Q8TDW4-5;Q8TDW4-6;Q8TDW4-3;Q8TDW4-2;Q8TDW4	.|.;.;.;.;.;.;.;ST7L_HUMAN	R|K	40|168;168;46;168;151;168;168;151;112;151;46;112	.|ENSP00000350734:R168K;ENSP00000353972:R168K;ENSP00000445499:R168K;ENSP00000417140:R151K;ENSP00000358682:R168K;ENSP00000345312:R168K;ENSP00000358680:R151K;ENSP00000444021:R112K;ENSP00000444088:R151K;ENSP00000358678:R112K	.|ENSP00000345312:R168K	G|R	-|-	1|2	0|0	ST7L|ST7L	112944942|112944942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	2.860000|2.860000	0.48372|0.48372	1.260000|1.260000	0.44134|0.44134	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.328	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			5	11	0	0	0	1	0	5	11				
ADAMTS12	81792	broad.mit.edu	37	5	33561153	33561153	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:33561153C>G	ENST00000504830.1	-	20	4439	c.4104G>C	c.(4102-4104)tgG>tgC	p.W1368C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1283C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1368	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|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 cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCACTTTCCAGCCAGCAC	0.527										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(4102-4104)tgG>tgC		ADAM metallopeptidase with thrombospondin type 1 motif, 12							142.0	134.0	137.0					5																	33561153		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561153C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4104G>C	5.37:g.33561153C>G	ENSP00000422554:p.Trp1368Cys	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1283C	p.W1368C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			20	4439	-			1368			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.4104G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451712	0.84209	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61980	0.06;0.06	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90473	0.4454	10	0.87932	D	0	.	19.1883	0.93653	0.0:1.0:0.0:0.0	.	1283;1368	P58397-3;P58397	.;ATS12_HUMAN	C	1368;1283	ENSP00000422554:W1368C;ENSP00000344847:W1283C	ENSP00000344847:W1283C	W	-	3	0	ADAMTS12	33596910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.257000	0.78362	2.630000	0.89119	0.650000	0.86243	TGG		0.527	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		44	92	0	0	0	1	0	44	92				
PIGA	5277	broad.mit.edu	37	X	15342946	15342946	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342946G>A	ENST00000333590.4	-	5	1113	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Silent_p.N28N|PIGA_ENST00000542278.1_Silent_p.N109N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	343					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAATAATAAGGTTTTCTGGAA	0.388																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1027-1029)aaC>aaT		phosphatidylinositol glycan anchor biosynthesis, class A							64.0	62.0	62.0					X																	15342946		2203	4298	6501	SO:0001819	synonymous_variant	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342946G>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1029C>T	X.37:g.15342946G>A						PIGA_ENST00000428964.1_Silent_p.N28N|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.N109N	p.N343N	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1113	-	Hepatocellular(33;0.183)		343					B4E0V2|Q16025|Q16250	Silent	SNP	ENST00000333590.4	37	c.1029C>T	CCDS14165.1																																																																																				0.388	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		42	56	0	0	0	1	0	42	56				
UNC80	285175	broad.mit.edu	37	2	210650808	210650808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210650808C>T	ENST00000439458.1	+	5	699	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	UNC80_ENST00000272845.6_Missense_Mutation_p.R207C|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	207					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCTCACCTTCCGTCTGGCCAG	0.498																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(619-621)Cgt>Tgt		unc-80 homolog (C. elegans)							122.0	114.0	117.0					2																	210650808		2203	4300	6503	SO:0001583	missense	285175					integral to membrane		g.chr2:210650808C>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.619C>T	2.37:g.210650808C>T	ENSP00000391088:p.Arg207Cys					UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R207C	p.R207C	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			5	699	+			207					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	c.619C>T	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386689	0.82902	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.54866	0.55;0.56	5.95	4.15	0.48705	.	0.134858	0.51477	N	0.000097	T	0.68485	0.3006	M	0.67397	2.05	0.80722	D	1	B;D	0.89917	0.025;1.0	B;D	0.83275	0.011;0.996	T	0.70114	-0.4961	10	0.87932	D	0	.	11.3163	0.49394	0.1277:0.8068:0.0:0.0656	.	207;207	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	C	207	ENSP00000391088:R207C;ENSP00000272845:R207C	ENSP00000272845:R207C	R	+	1	0	UNC80	210359053	1.000000	0.71417	0.178000	0.23040	0.971000	0.66376	3.968000	0.56809	0.841000	0.35020	0.650000	0.86243	CGT		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587		37	22	0	0	0	1	0	37	22				
VAX1	11023	broad.mit.edu	37	10	118897432	118897432	+	Missense_Mutation	SNP	C	C	T	rs367560423		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897432C>T	ENST00000369206.5	-	1	135	c.136G>A	c.(136-138)Gag>Aag	p.E46K	VAX1_ENST00000277905.2_Missense_Mutation_p.E46K	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	46					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E46K(1)		endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCCTGCGGCTCCTTGAGGAAG	0.647																																						ENST00000277905.2																			1	Substitution - Missense(1)	p.E46K(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(136-138)Gag>Aag		ventral anterior homeobox 1							39.0	48.0	45.0					10																	118897432		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118897432C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.136G>A	10.37:g.118897432C>T	ENSP00000358207:p.Glu46Lys					VAX1_ENST00000369206.5_Missense_Mutation_p.E46K	p.E46K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	380	-			46					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.136G>A	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344042	0.61073	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.91792	-2.37;-2.91	4.1	4.1	0.47936	.	0.119070	0.56097	D	0.000031	D	0.88952	0.6577	L	0.50333	1.59	0.53688	D	0.999972	P;P	0.40731	0.608;0.728	B;B	0.37888	0.109;0.26	D	0.87870	0.2670	10	0.27785	T	0.31	-17.3636	16.3016	0.82820	0.0:1.0:0.0:0.0	.	46;46	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	K	46	ENSP00000277905:E46K;ENSP00000358207:E46K	ENSP00000277905:E46K	E	-	1	0	VAX1	118887422	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.767000	0.74975	1.816000	0.52996	0.305000	0.20034	GAG		0.647	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		30	56	0	0	0	1	0	30	56				
SLC43A2	124935	broad.mit.edu	37	17	1519991	1519991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519991C>T	ENST00000301335.5	-	3	321	c.233G>A	c.(232-234)tGg>tAg	p.W78*	SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Nonsense_Mutation_p.W78*	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCAGCTGAGCCAGCCGTTCAT	0.597																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)tGg>tAg		solute carrier family 43 (amino acid system L transporter), member 2							86.0	68.0	74.0					17																	1519991		2203	4300	6503	SO:0001587	stop_gained	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1519991C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.233G>A	17.37:g.1519991C>T	ENSP00000301335:p.Trp78*					SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*	p.W78*			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	3	539	-			78					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Nonsense_Mutation	SNP	ENST00000301335.5	37	c.233G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765887	0.96914	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-18.1599	18.4373	0.90650	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000301335:W78X	W	-	2	0	SLC43A2	1466741	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.174000	0.77620	2.773000	0.95371	0.655000	0.94253	TGG		0.597	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		24	38	0	0	0	1	0	24	38				
CARD14	79092	broad.mit.edu	37	17	78165220	78165220	+	Silent	SNP	C	C	T	rs147432650		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78165220C>T	ENST00000573882.1	+	10	1724	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	CARD14_ENST00000344227.2_Silent_p.V396V|CARD14_ENST00000570421.1_Silent_p.V396V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Silent_p.V159V			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	396					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGACCAGGTCTGCGAGCTGC	0.667																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1186-1188)gtC>gtT		caspase recruitment domain family, member 14							68.0	61.0	63.0					17																	78165220		2203	4300	6503	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78165220C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1188C>T	17.37:g.78165220C>T						CARD14_ENST00000392434.2_Silent_p.V159V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.V396V|CARD14_ENST00000570421.1_Silent_p.V396V	p.V396V			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1724	+	all_neural(118;0.0952)		396					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1188C>T	CCDS11768.1																																																																																				0.667	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			33	54	0	0	0	1	0	33	54				
RNF145	153830	broad.mit.edu	37	5	158630511	158630511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158630511G>A	ENST00000424310.2	-	2	474	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q67*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q69*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q39*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q53*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q56*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	39						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTACTTCTTTGGATCTGCTGG	0.423																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(115-117)Caa>Taa		ring finger protein 145							146.0	135.0	139.0					5																	158630511		2203	4300	6503	SO:0001587	stop_gained	153830					integral to membrane	zinc ion binding	g.chr5:158630511G>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.115C>T	5.37:g.158630511G>A	ENSP00000409064:p.Gln39*					RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q67*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q56*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q69*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q39*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q53*	p.Q39*	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	474	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	39					B7Z903|B7Z949|E7EVI7|Q8IVP7	Nonsense_Mutation	SNP	ENST00000424310.2	37	c.115C>T	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	39	7.868855	0.98534	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	.	.	.	5.97	5.97	0.96955	.	0.102780	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-11.266	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	67;39;39;55;56;69;39;53	.	ENSP00000274542:Q67X	Q	-	1	0	RNF145	158563089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.414000	0.97362	2.833000	0.97629	0.585000	0.79938	CAA		0.423	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		43	71	0	0	0	1	0	43	71				
OR4K1	79544	broad.mit.edu	37	14	20404104	20404104	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404104C>T	ENST00000285600.4	+	1	338	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(277-279)tcC>tcT		olfactory receptor, family 4, subfamily K, member 1							154.0	158.0	156.0					14																	20404104		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404104C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.279C>T	14.37:g.20404104C>T							p.S93S	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	338	+	all_cancers(95;0.00108)		93					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.279C>T	CCDS32025.1																																																																																				0.403	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			36	75	0	0	0	1	0	36	75				
PRR12	57479	broad.mit.edu	37	19	50099897	50099897	+	Missense_Mutation	SNP	C	C	T	rs200746181		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099897C>T	ENST00000418929.2	+	4	2317	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCCCCACCTCCCACGGCCCA	0.711																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2305-2307)Ccc>Tcc		proline rich 12							10.0	13.0	12.0					19																	50099897		1818	3979	5797	SO:0001583	missense	57479						DNA binding	g.chr19:50099897C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2305C>T	19.37:g.50099897C>T	ENSP00000394510:p.Pro769Ser						p.P769S	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2317	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	476					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2305C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	6.384	0.439037	0.12104	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.66	2.51	0.30379	.	.	.	.	.	T	0.14527	0.0351	.	.	.	0.25955	N	0.982695	B	0.32829	0.386	B	0.25140	0.058	T	0.06516	-1.0822	7	0.06365	T	0.9	.	10.678	0.45797	0.0:0.8039:0.1961:0.0	.	769	Q9ULL5-3	.	S	769	.	ENSP00000394510:P769S	P	+	1	0	PRR12	54791709	0.000000	0.05858	0.937000	0.37676	0.644000	0.38419	0.029000	0.13666	2.059000	0.61396	0.313000	0.20887	CCC		0.711	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		15	15	0	0	0	1	0	15	15				
GCKR	2646	broad.mit.edu	37	2	27730568	27730568	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27730568C>T	ENST00000264717.2	+	14	1227	c.1164C>T	c.(1162-1164)tcC>tcT	p.S388S	GCKR_ENST00000424318.2_Silent_p.S198S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	388	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCACCTTCTCCCAGGAGGACT	0.542																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1162-1164)tcC>tcT		glucokinase (hexokinase 4) regulator							95.0	88.0	90.0					2																	27730568		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730568C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1164C>T	2.37:g.27730568C>T						GCKR_ENST00000424318.2_Silent_p.S198S	p.S388S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			14	1227	+	Acute lymphoblastic leukemia(172;0.155)		388			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.1164C>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	9.165	1.019621	0.19355	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.52	2.72	0.32119	.	.	.	.	.	T	0.54854	0.1884	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46261	-0.9204	4	.	.	.	-14.0155	6.7456	0.23460	0.0:0.7949:0.0:0.2051	.	.	.	.	L	89	.	.	P	+	2	0	GCKR	27584072	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.136000	0.15974	0.516000	0.28340	0.655000	0.94253	CCC		0.542	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		20	42	0	0	0	1	0	20	42				
NLRP6	171389	broad.mit.edu	37	11	280494	280494	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:280494C>T	ENST00000312165.5	+	4	760	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	NLRP6_ENST00000534750.1_Silent_p.L254L	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	254	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGACCTGATCCTGGACCAGTG	0.726																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(760-762)Ctg>Ttg		NLR family, pyrin domain containing 6							18.0	19.0	19.0					11																	280494		2197	4296	6493	SO:0001819	synonymous_variant	171389					cytoplasm	ATP binding	g.chr11:280494C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.760C>T	11.37:g.280494C>T						NLRP6_ENST00000312165.5_Silent_p.L254L	p.L254L	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	965	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	254			NACHT.		A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	c.760C>T	CCDS7693.1																																																																																				0.726	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		8	10	0	0	0	1	0	8	10				
RFPL1	5988	broad.mit.edu	37	22	29837928	29837928	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837928C>T	ENST00000354373.2	+	2	980	c.771C>T	c.(769-771)tcC>tcT	p.S257S	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	257	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AGAACGTTTCCTTTTTTGATG	0.512																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(769-771)tcC>tcT		ret finger protein-like 1							158.0	121.0	133.0					22																	29837928		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837928C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.771C>T	22.37:g.29837928C>T						RFPL1S_ENST00000461286.2_RNA	p.S257S	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	980	+			257			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.771C>T	CCDS13857.2																																																																																				0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		5	74	0	0	0	1	0	5	74				
TMED8	283578	broad.mit.edu	37	14	77812778	77812778	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812778G>T	ENST00000216468.7	-	3	296	c.241C>A	c.(241-243)Ctg>Atg	p.L81M		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	81					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCTTTCCGCAGATCTTCCGTG	0.512																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(241-243)Ctg>Atg		transmembrane emp24 protein transport domain containing 8							111.0	111.0	111.0					14																	77812778		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812778G>T	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.241C>A	14.37:g.77812778G>T	ENSP00000216468:p.Leu81Met						p.L81M	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	296	-			81					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.241C>A	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	8.101	0.776563	0.16120	.	.	ENSG00000100580	ENST00000216468	T	0.23950	1.88	5.57	4.67	0.58626	.	0.677590	0.15271	N	0.271224	T	0.15912	0.0383	N	0.19112	0.55	0.09310	N	1	P	0.44877	0.845	B	0.41571	0.36	T	0.07578	-1.0765	10	0.36615	T	0.2	-4.9434	5.648	0.17600	0.1188:0.0:0.6902:0.191	.	81	Q6PL24	TMED8_HUMAN	M	81	ENSP00000216468:L81M	ENSP00000216468:L81M	L	-	1	2	TMED8	76882531	0.033000	0.19621	0.007000	0.13788	0.045000	0.14185	2.513000	0.45494	1.339000	0.45563	0.655000	0.94253	CTG		0.512	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		30	55	1	0	2.08457e-15	1	2.11946e-15	30	55				
VPS13D	55187	broad.mit.edu	37	1	12337250	12337250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12337250A>G	ENST00000358136.3	+	19	3735	c.3605A>G	c.(3604-3606)aAa>aGa	p.K1202R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K1202R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTGGCACCAAAGTTAATGTC	0.403																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(3604-3606)aAa>aGa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							146.0	128.0	134.0					1																	12337250		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12337250A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3605A>G	1.37:g.12337250A>G	ENSP00000350854:p.Lys1202Arg					VPS13D_ENST00000356315.4_Missense_Mutation_p.K1202R	p.K1202R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3735	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1202						Missense_Mutation	SNP	ENST00000358136.3	37	c.3605A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.44|13.44	2.236757|2.236757	0.39498|0.39498	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	T|T;T	0.55234|0.42900	0.53|0.96;0.96	5.91|5.91	4.76|4.76	0.60689|0.60689	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.80764	.|0.994;0.985	T|T	0.40478|0.40478	-0.9561|-0.9561	8|10	0.54805|0.20046	T|T	0.06|0.44	.|.	12.3221|12.3221	0.54991|0.54991	0.8732:0.0:0.0:0.1268|0.8732:0.0:0.0:0.1268	.|.	.|1202;1202	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	E|R	25|1202	ENSP00000011700:K25E|ENSP00000348666:K1202R;ENSP00000350854:K1202R	ENSP00000011700:K25E|ENSP00000348666:K1202R	K|K	+|+	1|2	0|0	VPS13D|VPS13D	12259837|12259837	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.907000|0.907000	0.53573|0.53573	5.956000|5.956000	0.70315|0.70315	1.019000|1.019000	0.39547|0.39547	0.533000|0.533000	0.62120|0.62120	AAG|AAA		0.403	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		58	78	0	0	0	1	0	58	78				
PRSS50	29122	broad.mit.edu	37	3	46784468	46784468	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46784468G>A	ENST00000460241.1	-	4	1129				PRSS45_ENST00000442359.2_Missense_Mutation_p.P130S			Q9UI38	TSP50_HUMAN	protease, serine, 50						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGGACAACTGGGGGGAAGAAG	0.527																																					Pancreas(41;915 1239 11561 17469)	ENST00000442359.2																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(388-390)Cca>Tca		protease, serine, 45							68.0	74.0	72.0					3																	46784468		2033	4194	6227	SO:0001627	intron_variant	377047				proteolysis		serine-type endopeptidase activity	g.chr3:46784468G>A	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.541+5646C>T	3.37:g.46784468G>A						PRSS50_ENST00000460241.1_Intron	p.P130S	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN			3	387	-			162			Peptidase S1.			Missense_Mutation	SNP	ENST00000460241.1	37	c.388C>T	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	G	2.842	-0.240194	0.05944	.	.	ENSG00000188086	ENST00000331814;ENST00000442359	D	0.88896	-2.44	4.82	3.03	0.35002	.	2.033210	0.02114	N	0.055041	T	0.79034	0.4378	.	.	.	0.22500	N	0.99904	B	0.02656	0.0	B	0.04013	0.001	T	0.66077	-0.6013	9	0.09084	T	0.74	.	7.578	0.27948	0.1925:0.0:0.8075:0.0	.	130	Q7RTY3-2	.	S	162;130	ENSP00000401932:P130S	ENSP00000330940:P162S	P	-	1	0	PRSS45	46759472	0.304000	0.24472	0.115000	0.21578	0.008000	0.06430	1.236000	0.32683	0.773000	0.33404	-0.123000	0.14984	CCA		0.527	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			16	31	0	0	0	1	0	16	31				
FOXN1	8456	broad.mit.edu	37	17	26861462	26861462	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26861462C>T	ENST00000226247.2	+	6	1070	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	FOXN1_ENST00000579795.1_Silent_p.A347A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	347					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCTGTGGGCCCTCAATCCGG	0.537																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1039-1041)gcC>gcT		forkhead box N1							67.0	66.0	67.0					17																	26861462		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861462C>T	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1041C>T	17.37:g.26861462C>T						FOXN1_ENST00000579795.1_Silent_p.A347A	p.A347A	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN			6	1070	+	Lung NSC(42;0.00431)		347					B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.1041C>T	CCDS11232.1																																																																																				0.537	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			22	39	0	0	0	1	0	22	39				
CR1	1378	broad.mit.edu	37	1	207753920	207753920	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:207753920C>T	ENST00000367049.4	+	31	5178	c.5178C>T	c.(5176-5178)ctC>ctT	p.L1726L	CR1_ENST00000400960.2_Silent_p.L1276L|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1276L|CR1_ENST00000367052.1_Silent_p.L1276L|CR1_ENST00000367053.1_Silent_p.L1276L|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1276	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTAATCTCCAGCTTGGGG	0.433																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(5176-5178)ctC>ctT		complement component (3b/4b) receptor 1 (Knops blood group)							247.0	232.0	237.0					1																	207753920		1884	4114	5998	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207753920C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5178C>T	1.37:g.207753920C>T						CR1_ENST00000400960.2_Silent_p.L1276L|CR1_ENST00000367052.1_Silent_p.L1276L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1276L|CR1_ENST00000367053.1_Silent_p.L1276L	p.L1726L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			31	5178	+			1276			Sushi 27.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.5178C>T	CCDS44308.1																																																																																				0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		127	47	0	0	0	1	0	127	47				
CASP14	23581	broad.mit.edu	37	19	15164409	15164409	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15164409C>T	ENST00000427043.3	+	3	452	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CASP14_ENST00000221740.1_Silent_p.F48F|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	48					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						AGCTGAGATTCGAAAGCACCA	0.557																																						ENST00000427043.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(142-144)ttC>ttT		caspase 14, apoptosis-related cysteine peptidase							91.0	88.0	89.0					19																	15164409		2203	4300	6503	SO:0001819	synonymous_variant	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164409C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.144C>T	19.37:g.15164409C>T						CASP14_ENST00000221740.1_Silent_p.F48F	p.F48F	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			3	452	+			48					O95823|Q3SYC9	Silent	SNP	ENST00000427043.3	37	c.144C>T	CCDS12323.1																																																																																				0.557	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		50	54	0	0	0	1	0	50	54				
GPR98	84059	broad.mit.edu	37	5	90106722	90106722	+	Silent	SNP	C	C	T	rs367798570		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106722C>T	ENST00000405460.2	+	74	15741	c.15645C>T	c.(15643-15645)tcC>tcT	p.S5215S	GPR98_ENST00000425867.2_Silent_p.S876S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAATGTTTCCATTCATGGAA	0.458																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15643-15645)tcC>tcT		G protein-coupled receptor 98		C		0,3858		0,0,1929	85.0	81.0	82.0		15645	-1.5	0.0	5		82	1,8295		0,1,4147	no	coding-synonymous	GPR98	NM_032119.3		0,1,6076	TT,TC,CC		0.0121,0.0,0.0082		5215/6307	90106722	1,12153	1929	4148	6077	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106722C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15645C>T	5.37:g.90106722C>T						GPR98_ENST00000425867.2_Silent_p.S876S	p.S5215S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15741	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5215					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.15645C>T	CCDS47246.1																																																																																				0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		27	39	0	0	0	1	0	27	39				
ALDH3B2	222	broad.mit.edu	37	11	67433603	67433603	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67433603G>A	ENST00000349015.3	-	6	747	c.309C>T	c.(307-309)atC>atT	p.I103I	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Silent_p.I103I	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	103					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CTGTGAAGAAGATGTAGTCCA	0.637																																						ENST00000349015.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(307-309)atC>atT		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						105.0	104.0	104.0					11																	67433603		2200	4294	6494	SO:0001819	synonymous_variant	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433603G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.309C>T	11.37:g.67433603G>A						ALDH3B2_ENST00000530069.1_Silent_p.I103I	p.I103I	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			6	747	-			103					Q53Y98|Q8NAL5|Q96IB2	Silent	SNP	ENST00000349015.3	37	c.309C>T	CCDS31622.1																																																																																				0.637	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		37	62	0	0	0	1	0	37	62				
PIPSL	266971	broad.mit.edu	37	10	95720207	95720207	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95720207C>T	ENST00000480546.1	-	0	1090					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TCGAGCCTCTCCCTGGATGGA	0.532																																						ENST00000480546.1																			0																																																			266971							g.chr10:95720207C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720207C>T								NR_002319.2						0	1090	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.532	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		22	20	0	0	0	1	0	22	20				
INSL6	11172	broad.mit.edu	37	9	5164203	5164203	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:5164203C>T	ENST00000381641.3	-	2	417	c.352G>A	c.(352-354)Gat>Aat	p.D118N	INSL6_ENST00000510407.1_5'UTR	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	118					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CCCTTTTTATCCTTATACTCA	0.338																																						ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(352-354)Gat>Aat		insulin-like 6							89.0	90.0	89.0					9																	5164203		2203	4298	6501	SO:0001583	missense	11172					extracellular region	hormone activity	g.chr9:5164203C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.352G>A	9.37:g.5164203C>T	ENSP00000371054:p.Asp118Asn					INSL6_ENST00000510407.1_5'UTR	p.D118N	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	2	417	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	118					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	c.352G>A	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	7.686	0.690104	0.15039	.	.	ENSG00000120210	ENST00000381641	T	0.49139	0.79	4.2	-4.4	0.03600	Insulin-like (3);	2.374210	0.01183	N	0.007138	T	0.26521	0.0648	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.16722	0.016	T	0.14868	-1.0457	10	0.28530	T	0.3	-0.946	7.4886	0.27447	0.3025:0.1589:0.5386:0.0	.	118	Q9Y581	INSL6_HUMAN	N	118	ENSP00000371054:D118N	ENSP00000371054:D118N	D	-	1	0	INSL6	5154203	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.276000	0.08514	-0.815000	0.04346	-1.330000	0.01273	GAT		0.338	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		81	18	0	0	0	1	0	81	18				
PKD1L1	168507	broad.mit.edu	37	7	47913532	47913532	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47913532G>A	ENST00000289672.2	-	24	3911	c.3861C>T	c.(3859-3861)ccC>ccT	p.P1287P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1287	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGGTAGCGGGGCAGCACAG	0.512																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3859-3861)ccC>ccT		polycystic kidney disease 1 like 1							128.0	104.0	112.0					7																	47913532		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47913532G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3861C>T	7.37:g.47913532G>A							p.P1287P	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			24	3911	-			1287			REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.3861C>T	CCDS34633.1																																																																																				0.512	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		21	24	0	0	0	1	0	21	24				
AACS	65985	broad.mit.edu	37	12	125587579	125587579	+	Missense_Mutation	SNP	C	C	T	rs376649709		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587579C>T	ENST00000316519.6	+	7	925	c.719C>T	c.(718-720)cCt>cTt	p.P240L	AACS_ENST00000261686.6_Missense_Mutation_p.P240L|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTGGTGATTCCTTATGTGTCC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		19411	0.0		0.0	False		,,,				2504	0.001					ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(718-720)cCt>cTt		acetoacetyl-CoA synthetase							182.0	187.0	185.0					12																	125587579		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125587579C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.719C>T	12.37:g.125587579C>T	ENSP00000324842:p.Pro240Leu					AACS_ENST00000261686.6_Missense_Mutation_p.P240L	p.P240L	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	7	925	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		240					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.719C>T	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047554	0.75846	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000537564;ENST00000441247	T;T;T;T;T	0.45276	2.82;2.82;0.9;2.82;1.06	5.5	5.5	0.81552	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.988	T	0.79748	-0.1673	10	0.87932	D	0	.	19.0178	0.92901	0.0:1.0:0.0:0.0	.	240;240	Q86V21-2;Q86V21	.;AACS_HUMAN	L	240;240;96;71;21;59	ENSP00000324842:P240L;ENSP00000261686:P240L;ENSP00000439931:P71L;ENSP00000442956:P21L;ENSP00000392967:P59L	ENSP00000261686:P240L	P	+	2	0	AACS	124153532	1.000000	0.71417	0.471000	0.27229	0.379000	0.30106	6.809000	0.75211	2.573000	0.86826	0.555000	0.69702	CCT		0.468	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		47	200	0	0	0	1	0	47	200				
ZNF804B	219578	broad.mit.edu	37	7	88963595	88963595	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88963595C>T	ENST00000333190.4	+	4	1908	c.1299C>T	c.(1297-1299)acC>acT	p.T433T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	433							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1297-1299)acC>acT		zinc finger protein 804B							65.0	66.0	65.0					7																	88963595		2201	4298	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963595C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1299C>T	7.37:g.88963595C>T		HNSCC(36;0.09)					p.T433T	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1908	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		433					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1299C>T	CCDS5613.1																																																																																				0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		35	35	0	0	0	1	0	35	35				
HNRNPH2	3188	broad.mit.edu	37	X	100667349	100667349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100667349G>A	ENST00000316594.5	+	2	451	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	125	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CTGTAGCAAGGAAGAGATTGT	0.502																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(373-375)Gaa>Aaa		heterogeneous nuclear ribonucleoprotein H2 (H')							103.0	93.0	96.0					X																	100667349		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667349G>A	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.373G>A	X.37:g.100667349G>A	ENSP00000361927:p.Glu125Lys						p.E125K	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	451	+			125			RRM 2.		A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.373G>A	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580644	0.46006	.	.	ENSG00000126945	ENST00000316594	T	0.11495	2.77	4.55	4.55	0.56014	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	L	0.57130	1.785	0.80722	D	1	B	0.20052	0.041	B	0.25405	0.06	T	0.04723	-1.0931	9	.	.	.	-2.3005	13.9918	0.64372	0.0:0.0:1.0:0.0	.	125	P55795	HNRH2_HUMAN	K	125	ENSP00000361927:E125K	.	E	+	1	0	HNRNPH2	100554005	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.492000	0.97957	2.265000	0.75225	0.513000	0.50165	GAA		0.502	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		71	84	0	0	0	1	0	71	84				
ANKAR	150709	broad.mit.edu	37	2	190611141	190611141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190611141C>T	ENST00000520309.1	+	23	4181	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q1294*|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q1365*|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1365						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACCTAAAATTCAACCAAAAGA	0.343																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(4093-4095)Caa>Taa		ankyrin and armadillo repeat containing							91.0	103.0	99.0					2																	190611141		2203	4297	6500	SO:0001587	stop_gained	150709					integral to membrane	binding	g.chr2:190611141C>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.4093C>T	2.37:g.190611141C>T	ENSP00000427882:p.Gln1365*					ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q1365*|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q1294*	p.Q1365*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		23	4181	+			1365					Q3ZCS6|Q4G0M2|Q6ZU02	Nonsense_Mutation	SNP	ENST00000520309.1	37	c.4093C>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	40	8.258028	0.98729	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	.	.	.	4.55	3.66	0.41972	.	0.306644	0.27715	N	0.018159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.486	12.1225	0.53900	0.0:0.8261:0.1739:0.0	.	.	.	.	X	1365;1365;1294	.	ENSP00000313513:Q1365X	Q	+	1	0	ANKAR	190319386	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.866000	0.56040	1.255000	0.44051	-0.274000	0.10170	CAA		0.343	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		46	100	0	0	0	1	0	46	100				
TEX2	55852	broad.mit.edu	37	17	62248493	62248493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62248493G>A	ENST00000583097.1	-	7	2810	c.2638C>T	c.(2638-2640)Ctc>Ttc	p.L880F	TEX2_ENST00000258991.3_Missense_Mutation_p.L887F|TEX2_ENST00000584379.1_Missense_Mutation_p.L880F			Q8IWB9	TEX2_HUMAN	testis expressed 2	880					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAGGCCTGGAGGATTTTTGGC	0.448																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2659-2661)Ctc>Ttc		testis expressed 2							127.0	106.0	113.0					17																	62248493		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62248493G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2638C>T	17.37:g.62248493G>A	ENSP00000462665:p.Leu880Phe					TEX2_ENST00000584379.1_Missense_Mutation_p.L880F|TEX2_ENST00000583097.1_Missense_Mutation_p.L880F	p.L887F			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	7	2743	-			880					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2659C>T		.	.	.	.	.	.	.	.	.	.	G	15.58	2.876302	0.51801	.	.	ENSG00000136478	ENST00000258991	T	0.50001	0.76	6.03	6.03	0.97812	Domain of unknown function DUF2404 (1);	0.123734	0.56097	D	0.000030	T	0.68769	0.3037	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.983;0.986	T	0.66720	-0.5852	10	0.56958	D	0.05	-12.3754	20.5596	0.99324	0.0:0.0:1.0:0.0	.	887;880	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	F	887	ENSP00000258991:L887F	ENSP00000258991:L887F	L	-	1	0	TEX2	59602225	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.444000	0.97578	2.868000	0.98415	0.555000	0.69702	CTC		0.448	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		17	17	0	0	0	1	0	17	17				
COL11A1	1301	broad.mit.edu	37	1	103540328	103540328	+	Missense_Mutation	SNP	C	C	T	rs142753283		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103540328C>T	ENST00000370096.3	-	4	809	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.R166Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R166Q|COL11A1_ENST00000358392.2_Missense_Mutation_p.R166Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	166	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATTGCTACCCGATGCCACCT	0.353																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(496-498)cGg>cAg		collagen, type XI, alpha 1							118.0	105.0	109.0					1																	103540328		2202	4300	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103540328C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.497G>A	1.37:g.103540328C>T	ENSP00000359114:p.Arg166Gln					COL11A1_ENST00000512756.1_Missense_Mutation_p.R166Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R166Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R166Q	p.R166Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	4	814	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	166			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.497G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347567	0.82022	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.99;0.99;0.994	T	0.01266	-1.1401	10	0.87932	D	0	.	19.9023	0.96990	0.0:1.0:0.0:0.0	.	166;166;166;166	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	Q	166;166;166;166;166;93	ENSP00000359114:R166Q;ENSP00000351163:R166Q;ENSP00000302551:R166Q;ENSP00000426533:R166Q;ENSP00000408640:R166Q;ENSP00000410177:R93Q	ENSP00000302551:R166Q	R	-	2	0	COL11A1	103312916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.693000	0.91896	0.650000	0.86243	CGG		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		23	25	0	0	0	1	0	23	25				
KCNMA1	3778	broad.mit.edu	37	10	78778840	78778840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:78778840C>T	ENST00000286628.8	-	17	1945	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E	KCNMA1_ENST00000404857.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G653E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G649E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G649E|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G649E	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	649					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AAGATGGTTTCCAGGATTAAT	0.348																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(1945-1947)gGa>gAa		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						82.0	84.0	83.0					10																	78778840		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78778840C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1946G>A	10.37:g.78778840C>T	ENSP00000286628:p.Gly649Glu					KCNMA1_ENST00000404857.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G649E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G653E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G649E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G649E	p.G649E	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		17	2898	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		649					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1946G>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.3|23.3|23.3	4.400880|4.400880|4.400880	0.83120|0.83120|0.83120	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403;ENST00000428546|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208;ENST00000450795	.|D;D;D;D;D;D;D;D;D|.	.|0.85861|.	.|-2.02;-1.98;-2.01;-2.03;-2.02;-2.02;-1.99;-2.04;-2.01|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.73313|0.73313|.	0.3571|0.3571|.	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P;P;P;P;P;D;P|.	.|0.89917|.	.|1.0;0.84;0.796;0.897;0.635;0.801;0.969;0.84|.	.|D;B;B;P;B;B;P;B|.	.|0.91635|.	.|0.999;0.226;0.304;0.449;0.304;0.432;0.551;0.222|.	T|T|.	0.69647|0.69647|.	-0.5089|-0.5089|.	5|10|.	.|0.36615|.	.|T|.	.|0.2|.	-9.2667|-9.2667|-9.2667	19.7445|19.7445|19.7445	0.96247|0.96247|0.96247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|649;649;649;649;649;431;649;649|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	K|E|X	600;133|649;586;584;623;586;649;649;623;653;649;649;431|637;327;141	.|ENSP00000361517:G649E;ENSP00000361485:G586E;ENSP00000361514:G584E;ENSP00000396608:G623E;ENSP00000361520:G649E;ENSP00000286627:G649E;ENSP00000385552:G653E;ENSP00000346321:G649E;ENSP00000385806:G649E|.	.|ENSP00000286627:G649E|.	E|G|W	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78448846|78448846|78448846	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.739000|2.739000|2.739000	0.93911|0.93911|0.93911	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|GGA|TGG		0.348	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		6	31	0	0	0	1	0	6	31				
OR6K2	81448	broad.mit.edu	37	1	158670072	158670072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158670072G>A	ENST00000359610.2	-	1	414	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCTGCATATGGCCAGGTAGTG	0.468																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(370-372)gCc>gTc		olfactory receptor, family 6, subfamily K, member 2							116.0	106.0	109.0					1																	158670072		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670072G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.371C>T	1.37:g.158670072G>A	ENSP00000352626:p.Ala124Val						p.A124V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	414	-	all_hematologic(112;0.0378)		124					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.371C>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685092	0.88639	.	.	ENSG00000196171	ENST00000359610	T	0.01767	4.65	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001850	T	0.13841	0.0335	H	0.97983	4.12	0.44927	D	0.997944	D	0.89917	1.0	D	0.70227	0.968	T	0.18967	-1.0320	10	0.87932	D	0	-10.1739	16.574	0.84632	0.0:0.0:1.0:0.0	.	124	Q8NGY2	OR6K2_HUMAN	V	124	ENSP00000352626:A124V	ENSP00000352626:A124V	A	-	2	0	OR6K2	156936696	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.377000	0.97184	2.413000	0.81919	0.650000	0.86243	GCC		0.468	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		15	54	0	0	0	1	0	15	54				
FPR3	2359	broad.mit.edu	37	19	52327032	52327032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52327032G>A	ENST00000339223.4	+	2	210	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	FPR3_ENST00000595991.1_Missense_Mutation_p.E11K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	11					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TCCTCTGAATGAAACTGAGGA	0.493																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(31-33)Gaa>Aaa		formyl peptide receptor 3							100.0	82.0	88.0					19																	52327032		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327032G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.31G>A	19.37:g.52327032G>A	ENSP00000341821:p.Glu11Lys					FPR3_ENST00000595991.1_Missense_Mutation_p.E11K	p.E11K	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	210	+			11						Missense_Mutation	SNP	ENST00000339223.4	37	c.31G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.147508	0.00328	.	.	ENSG00000187474	ENST00000339223	T	0.38077	1.16	2.32	1.2	0.21068	.	0.738036	0.12101	N	0.499521	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.32613	-0.9900	10	0.06494	T	0.89	.	5.5004	0.16825	0.1871:0.0:0.8129:0.0	.	11	P25089	FPR3_HUMAN	K	11	ENSP00000341821:E11K	ENSP00000341821:E11K	E	+	1	0	FPR3	57018844	0.001000	0.12720	0.066000	0.19879	0.129000	0.20672	0.359000	0.20233	0.255000	0.21593	0.467000	0.42956	GAA		0.493	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		17	33	0	0	0	1	0	17	33				
EYA1	2138	broad.mit.edu	37	8	72111619	72111619	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72111619C>A	ENST00000340726.3	-	18	2374	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	EYA1_ENST00000388740.3_Missense_Mutation_p.D546Y|EYA1_ENST00000388742.4_Missense_Mutation_p.D579Y|EYA1_ENST00000303824.7_Missense_Mutation_p.D573Y|EYA1_ENST00000419131.1_Missense_Mutation_p.D544Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000388741.2_Missense_Mutation_p.D545Y|EYA1_ENST00000388743.2_Missense_Mutation_p.D578Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	579					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCATGAGGTCCGAGTGGCTG	0.597																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1735-1737)Gac>Tac		eyes absent homolog 1 (Drosophila)							85.0	64.0	71.0					8																	72111619		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72111619C>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1735G>T	8.37:g.72111619C>A	ENSP00000342626:p.Asp579Tyr					EYA1_ENST00000388740.3_Missense_Mutation_p.D546Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000419131.1_Missense_Mutation_p.D544Y|EYA1_ENST00000388743.2_Missense_Mutation_p.D578Y|EYA1_ENST00000303824.7_Missense_Mutation_p.D573Y|EYA1_ENST00000388741.2_Missense_Mutation_p.D545Y|EYA1_ENST00000388742.4_Missense_Mutation_p.D579Y	p.D579Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		18	2374	-	Breast(64;0.046)		579					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1735G>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377702	0.82682	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	6.03	6.03	0.97812	EYA (1);	0.000000	0.85682	D	0.000000	D	0.97598	0.9213	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.998	D	0.97559	1.0097	10	0.87932	D	0	-19.3846	20.5596	0.99324	0.0:1.0:0.0:0.0	.	573;506;546;579;544	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	579;579;547;546;573;545;578;544	ENSP00000373394:D579Y;ENSP00000342626:D579Y;ENSP00000373392:D546Y;ENSP00000303221:D573Y;ENSP00000373393:D545Y;ENSP00000373395:D578Y;ENSP00000410176:D544Y	ENSP00000303221:D573Y	D	-	1	0	EYA1	72274173	1.000000	0.71417	0.974000	0.42286	0.931000	0.56810	7.770000	0.85390	2.868000	0.98415	0.555000	0.69702	GAC		0.597	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		6	18	1	0	2.0095e-06	1	2.02221e-06	6	18				
TRIM51HP	440041	broad.mit.edu	37	11	55065335	55065335	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55065335C>T	ENST00000526016.1	-	0	373					NR_038174.2				tripartite motif-containing 51H, pseudogene																		CATCACTTACCCGGCGTTCCT	0.478																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065335C>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065335C>T								NR_038174.2						0	373	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.478	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			14	21	0	0	0	1	0	14	21				
YPEL5	51646	broad.mit.edu	37	2	30381531	30381531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:30381531C>T	ENST00000379520.3	+	5	692	c.188C>T	c.(187-189)aCt>aTt	p.T63I	YPEL5_ENST00000261353.4_Missense_Mutation_p.T63I|YPEL5_ENST00000402708.1_Missense_Mutation_p.T63I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T63I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000379519.3_Missense_Mutation_p.T63I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	63										NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					GTCATGCTCACTGGCCGCCAC	0.448																																						ENST00000379520.3																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7						c.(187-189)aCt>aTt		yippee-like 5 (Drosophila)							117.0	105.0	109.0					2																	30381531		2203	4300	6503	SO:0001583	missense	51646						peptide-methionine-(S)-S-oxide reductase activity	g.chr2:30381531C>T	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.188C>T	2.37:g.30381531C>T	ENSP00000368835:p.Thr63Ile					YPEL5_ENST00000402708.1_Missense_Mutation_p.T63I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T63I|YPEL5_ENST00000379519.3_Missense_Mutation_p.T63I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T63I|YPEL5_ENST00000495673.1_3'UTR	p.T63I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN			5	692	+	Acute lymphoblastic leukemia(172;0.155)		63					D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP	ENST00000379520.3	37	c.188C>T	CCDS1771.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.236368	0.79800	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	5.63	5.63	0.86233	Methionine sulphoxide reductase B (1);	0.000000	0.85682	D	0.000000	D	0.89729	0.6799	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92573	0.6068	9	0.87932	D	0	-0.9394	18.6978	0.91607	0.0:1.0:0.0:0.0	.	63	P62699	YPEL5_HUMAN	I	63	.	ENSP00000261353:T63I	T	+	2	0	YPEL5	30235035	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	2.652000	0.90054	0.655000	0.94253	ACT		0.448	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215128.1	NM_016061		40	42	0	0	0	1	0	40	42				
SUGP2	10147	broad.mit.edu	37	19	19135589	19135589	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19135589A>T	ENST00000601879.1	-	3	1865	c.1568T>A	c.(1567-1569)tTt>tAt	p.F523Y	SUGP2_ENST00000456085.2_Missense_Mutation_p.F292Y|SUGP2_ENST00000452918.2_Missense_Mutation_p.F523Y|SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000337018.6_Missense_Mutation_p.F523Y|SUGP2_ENST00000600377.1_Missense_Mutation_p.F537Y			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	523					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTCTCGCCCAAACAAAGTGGA	0.542																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1567-1569)tTt>tAt		SURP and G patch domain containing 2							98.0	98.0	98.0					19																	19135589		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19135589A>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1568T>A	19.37:g.19135589A>T	ENSP00000472286:p.Phe523Tyr					SUGP2_ENST00000337018.6_Missense_Mutation_p.F523Y|SUGP2_ENST00000600377.1_Missense_Mutation_p.F537Y|SUGP2_ENST00000456085.2_Missense_Mutation_p.F292Y|SUGP2_ENST00000452918.2_Missense_Mutation_p.F523Y	p.F523Y			Q8IX01	SUGP2_HUMAN			3	1865	-			523					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1568T>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	A	19.83	3.900893	0.72754	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.26067	1.95;1.91;1.95;1.76	5.24	5.24	0.73138	.	0.084264	0.51477	D	0.000081	T	0.39835	0.1093	L	0.32530	0.975	0.41412	D	0.987748	D;D;D	0.69078	0.997;0.997;0.993	D;D;D	0.73380	0.98;0.98;0.971	T	0.31166	-0.9953	10	0.72032	D	0.01	-17.6122	14.3077	0.66395	1.0:0.0:0.0:0.0	.	292;523;523	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	Y	523;523;523;292	ENSP00000337926:F523Y;ENSP00000332373:F523Y;ENSP00000389380:F523Y;ENSP00000409603:F292Y	ENSP00000332373:F523Y	F	-	2	0	SUGP2	18996589	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	6.040000	0.70980	1.988000	0.58038	0.379000	0.24179	TTT		0.542	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		38	56	0	0	0	1	0	38	56				
SF3B2	10992	broad.mit.edu	37	11	65826342	65826342	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65826342C>T	ENST00000322535.6	+	10	1057	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	SF3B2_ENST00000528302.1_Silent_p.P319P	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	336					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGAAAAAGCCCCAGCGGGTGC	0.572																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(955-957)ccC>ccT		splicing factor 3b, subunit 2, 145kDa							37.0	43.0	41.0					11																	65826342		2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65826342C>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1008C>T	11.37:g.65826342C>T						SF3B2_ENST00000322535.6_Silent_p.P336P	p.P319P			Q13435	SF3B2_HUMAN			9	1011	+			336					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.957C>T	CCDS31612.1																																																																																				0.572	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			20	50	0	0	0	1	0	20	50				
DNAJC5B	85479	broad.mit.edu	37	8	66992705	66992705	+	Missense_Mutation	SNP	G	G	A	rs143168011	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:66992705G>A	ENST00000276570.5	+	5	714	c.427G>A	c.(427-429)Gag>Aag	p.E143K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	143						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTGCCGGCCCGAGTCATCAGT	0.562																																						ENST00000276570.5																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(427-429)Gag>Aag		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							74.0	62.0	66.0					8																	66992705		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66992705G>A	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.427G>A	8.37:g.66992705G>A	ENSP00000276570:p.Glu143Lys					DNAJC5B_ENST00000519330.1_3'UTR	p.E143K	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		5	714	+		Lung NSC(129;0.114)|all_lung(136;0.188)	143					Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.427G>A	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	1.843	-0.466934	0.04476	.	.	ENSG00000147570	ENST00000276570	T	0.68331	-0.32	5.92	3.51	0.40186	.	0.370287	0.23354	N	0.049093	T	0.21062	0.0507	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	.	.	.	.	8.7233	0.34454	0.8044:0.1293:0.0663:0.0	.	143	Q9UF47	DNJ5B_HUMAN	K	143	ENSP00000276570:E143K	.	E	+	1	0	DNAJC5B	67155259	0.278000	0.24230	0.985000	0.45067	0.395000	0.30598	3.399000	0.52586	0.484000	0.27630	-0.340000	0.08031	GAG		0.562	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		23	18	0	0	0	1	0	23	18				
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56000423C>T	ENST00000313264.4	-	1	314	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G80E(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413																																						ENST00000313264.4																			1	Substitution - Missense(1)	p.G80E(1)	skin(1)	endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(238-240)gGa>gAa		olfactory receptor, family 5, subfamily T, member 2							73.0	69.0	70.0					11																	56000423		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000423C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.239G>A	11.37:g.56000423C>T	ENSP00000323688:p.Gly80Glu						p.G80E	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	314	-	Esophageal squamous(21;0.00448)		80					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.239G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832247	0.71258	.	.	ENSG00000181718	ENST00000313264	T	0.04360	3.64	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34777	U	0.003685	T	0.12475	0.0303	M	0.79011	2.435	0.43107	D	0.994808	P	0.41450	0.75	B	0.43360	0.417	T	0.01711	-1.1290	10	0.72032	D	0.01	.	16.6696	0.85262	0.0:1.0:0.0:0.0	.	80	Q8NGG2	OR5T2_HUMAN	E	80	ENSP00000323688:G80E	ENSP00000323688:G80E	G	-	2	0	OR5T2	55756999	0.008000	0.16893	0.707000	0.30419	0.006000	0.05464	1.366000	0.34193	2.298000	0.77334	0.465000	0.42564	GGA		0.413	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		20	29	0	0	0	1	0	20	29				
ANXA11	311	broad.mit.edu	37	10	81930561	81930561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930561C>T	ENST00000438331.1	-	5	648	c.166G>A	c.(166-168)Gga>Aga	p.G56R	ANXA11_ENST00000360615.4_Missense_Mutation_p.G56R|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000537102.1_Missense_Mutation_p.G23R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G56R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G56R|ANXA11_ENST00000265447.4_Missense_Mutation_p.G56R|ANXA11_ENST00000372231.3_Missense_Mutation_p.G56R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	56					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTCACCATTCCCGAGAGATAG	0.637																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(166-168)Gga>Aga		annexin A11							80.0	65.0	70.0					10																	81930561		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930561C>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.166G>A	10.37:g.81930561C>T	ENSP00000398610:p.Gly56Arg					ANXA11_ENST00000537102.1_Missense_Mutation_p.G23R|ANXA11_ENST00000360615.4_Missense_Mutation_p.G56R|ANXA11_ENST00000372231.3_Missense_Mutation_p.G56R|ANXA11_ENST00000265447.4_Missense_Mutation_p.G56R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G56R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G56R	p.G56R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	648	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		56					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.166G>A	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.402100	0.42613	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02236	4.39;4.39;4.39;4.39;4.39;4.39;4.38	3.55	3.55	0.40652	.	2.156910	0.02006	N	0.046667	T	0.07593	0.0191	L	0.40543	1.245	0.44352	D	0.997242	D;D;D	0.69078	0.997;0.982;0.982	D;P;P	0.63597	0.916;0.708;0.708	T	0.42015	-0.9476	10	0.27785	T	0.31	.	8.5041	0.33177	0.2311:0.7689:0.0:0.0	.	156;56;56	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	R	56;56;56;56;56;56;56;23;56;56	ENSP00000361305:G56R;ENSP00000404412:G56R;ENSP00000398610:G56R;ENSP00000353827:G56R;ENSP00000265447:G56R;ENSP00000441748:G56R;ENSP00000441400:G23R	ENSP00000265447:G56R	G	-	1	0	ANXA11	81920541	0.989000	0.36119	0.981000	0.43875	0.770000	0.43624	3.027000	0.49697	2.277000	0.76020	0.457000	0.33378	GGA		0.637	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		24	51	0	0	0	1	0	24	51				
SLITRK4	139065	broad.mit.edu	37	X	142716803	142716803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142716803C>T	ENST00000381779.4	-	2	2347	c.2122G>A	c.(2122-2124)Ggg>Agg	p.G708R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G708R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G708R	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	708						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACATGAACCCAGTTTCTGAC	0.408																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2122-2124)Ggg>Agg		SLIT and NTRK-like family, member 4							86.0	84.0	84.0					X																	142716803		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716803C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2122G>A	X.37:g.142716803C>T	ENSP00000371198:p.Gly708Arg					SLITRK4_ENST00000338017.4_Missense_Mutation_p.G708R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G708R	p.G708R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2347	-	Acute lymphoblastic leukemia(192;6.56e-05)		708					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2122G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917926	0.17982	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52295	0.67;0.67;0.67	5.49	2.74	0.32292	.	0.147075	0.44285	U	0.000478	T	0.39172	0.1068	L	0.40543	1.245	0.44006	D	0.996715	B	0.22800	0.075	B	0.31812	0.136	T	0.23976	-1.0173	10	0.37606	T	0.19	-5.4436	9.4076	0.38471	0.0:0.7586:0.0:0.2414	.	708	Q8IW52	SLIK4_HUMAN	R	708	ENSP00000371198:G708R;ENSP00000349400:G708R;ENSP00000336627:G708R	ENSP00000336627:G708R	G	-	1	0	SLITRK4	142544469	0.287000	0.24315	0.831000	0.32960	0.993000	0.82548	2.482000	0.45224	1.082000	0.41137	0.600000	0.82982	GGG		0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		48	124	0	0	0	1	0	48	124				
FARP1	10160	broad.mit.edu	37	13	99064192	99064192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064192C>T	ENST00000319562.6	+	16	1995	c.1730C>T	c.(1729-1731)cCg>cTg	p.P577L	FARP1_ENST00000376586.2_Missense_Mutation_p.P577L|FARP1_ENST00000595437.1_Missense_Mutation_p.P577L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			GACGCCATGCCGGAAGCACTG	0.443																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1729-1731)cCg>cTg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							162.0	158.0	159.0					13																	99064192		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.chr13:99064192C>T	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.1730C>T	13.37:g.99064192C>T	ENSP00000322926:p.Pro577Leu					FARP1_ENST00000319562.6_Missense_Mutation_p.P577L|FARP1_ENST00000595437.1_Missense_Mutation_p.P577L	p.P577L			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		16	2066	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		577			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1730C>T	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.66|18.66	3.671550|3.671550	0.67928|0.67928	.|.	.|.	ENSG00000152767|ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562|ENST00000457029	T;T|.	0.64618|.	-0.11;-0.11|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78997|0.78997	0.4372|0.4372	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.996|.	D;D|.	0.70227|.	0.917;0.968|.	T|T	0.77395|0.77395	-0.2604|-0.2604	10|5	0.87932|.	D|.	0|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	577;577|.	Q9Y4F1;C9JME2|.	FARP1_HUMAN;.|.	L|W	577;282;577|106	ENSP00000365771:P577L;ENSP00000322926:P577L|.	ENSP00000322926:P577L|.	P|R	+|+	2|1	0|2	FARP1|FARP1	97862193|97862193	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.019000|0.019000	0.09904|0.09904	7.445000|7.445000	0.80570|0.80570	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		48	119	0	0	0	1	0	48	119				
SEC22B	9554	broad.mit.edu	37	1	145103915	145103915	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145103915G>A	ENST00000453618.1	+	0	410							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CAGTCTGGCCGGGACCTTCAA	0.418																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)							65.0	59.0	61.0					1																	145103915		1928	4133	6061			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145103915G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145103915G>A										O75396	SC22B_HUMAN			0	410	+								A8K1G0	RNA	SNP	ENST00000453618.1	37																																																																																						0.418	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		5	7	0	0	0	1	0	5	7				
TRIML1	339976	broad.mit.edu	37	4	189060943	189060943	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060943C>T	ENST00000332517.3	+	1	371	c.231C>T	c.(229-231)atC>atT	p.I77I	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	77					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGCCAGCATCGCCAGGCAGC	0.627																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(229-231)atC>atT		tripartite motif family-like 1							50.0	52.0	51.0					4																	189060943		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060943C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.231C>T	4.37:g.189060943C>T							p.I77I	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	371	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	77					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.231C>T	CCDS3851.1																																																																																				0.627	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		15	50	0	0	0	1	0	15	50				
MYH13	8735	broad.mit.edu	37	17	10248557	10248557	+	Missense_Mutation	SNP	C	C	T	rs201933344		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10248557C>T	ENST00000418404.3	-	14	1709	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	MYH13_ENST00000252172.4_Missense_Mutation_p.G516R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	516	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGTCCATTCCGAAGTCAATG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20075	0.0		0.001	False		,,,				2504	0.0					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1546-1548)Gga>Aga		myosin, heavy chain 13, skeletal muscle		C	ARG/GLY	0,4406		0,0,2203	191.0	167.0	175.0		1546	3.5	1.0	17		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH13	NM_003802.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	516/1939	10248557	1,13005	2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248557C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1546G>A	17.37:g.10248557C>T	ENSP00000404570:p.Gly516Arg					MYH13_ENST00000252172.4_Missense_Mutation_p.G516R|MYH13_ENST00000570743.1_Missense_Mutation_p.G516R	p.G516R			Q9UKX3	MYH13_HUMAN			14	1709	-			516			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1546G>A	CCDS45613.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.0	4.367594	0.82463	0.0	1.16E-4	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87887	-2.31	4.46	3.48	0.39840	Myosin head, motor domain (3);	.	.	.	.	D	0.95389	0.8503	H	0.96048	3.76	0.50171	D	0.999854	D	0.89917	1.0	D	0.97110	1.0	D	0.96827	0.9608	9	0.87932	D	0	.	14.9404	0.70989	0.0:0.8565:0.1435:0.0	.	516	Q9UKX3	MYH13_HUMAN	R	516;191	ENSP00000252172:G516R	ENSP00000252172:G516R	G	-	1	0	MYH13	10189282	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.694000	0.61760	1.225000	0.43566	0.655000	0.94253	GGA		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		40	84	0	0	0	1	0	40	84				
RTP1	132112	broad.mit.edu	37	3	186917660	186917660	+	Silent	SNP	C	C	T	rs370117897		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186917660C>T	ENST00000312295.4	+	2	624	c.594C>T	c.(592-594)atC>atT	p.I198I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	198					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGAGGGCATCGTGCACTGGA	0.701																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(592-594)atC>atT		receptor (chemosensory) transporter protein 1		C		1,4405	2.1+/-5.4	0,1,2202	42.0	40.0	41.0		594	3.0	1.0	3		41	0,8600		0,0,4300	no	coding-synonymous	RTP1	NM_153708.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		198/264	186917660	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917660C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.594C>T	3.37:g.186917660C>T						RP11-208N14.4_ENST00000356133.3_RNA	p.I198I	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	624	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		198						Silent	SNP	ENST00000312295.4	37	c.594C>T	CCDS3287.2																																																																																				0.701	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		18	19	0	0	0	1	0	18	19				
OR4X1	390113	broad.mit.edu	37	11	48285517	48285517	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48285517T>G	ENST00000320048.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	35						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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTACACAGCTGTTGTGCTGG	0.458																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(103-105)gcT>gcG		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							177.0	159.0	165.0					11																	48285517		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285517T>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.105T>G	11.37:g.48285517T>G							p.A35A	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	105	+			35					Q6IF74	Silent	SNP	ENST00000320048.1	37	c.105T>G	CCDS31487.1																																																																																				0.458	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		25	36	0	0	0	1	0	25	36				
FAM150A	389658	broad.mit.edu	37	8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	rs145116532	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53452429C>T	ENST00000358543.4	-	3	537	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	96						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													C|||	2	0.000399361	0.0	0.0	5008	,	,		17018	0.001		0.0	False		,,,				2504	0.001					ENST00000358543.4																			0				lung(1)	1						c.(286-288)cGa>cAa		family with sequence similarity 150, member A		C	GLN/ARG	0,4406		0,0,2203	102.0	101.0	101.0		287	5.5	0.1	8	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM150A	NM_207413.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	96/130	53452429	1,13005	2203	4300	6503	SO:0001583	missense	389658					extracellular region		g.chr8:53452429C>T		CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.287G>A	8.37:g.53452429C>T	ENSP00000351345:p.Arg96Gln					FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q	p.R96Q	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN			3	537	-		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)	96					B7ZMG9	Missense_Mutation	SNP	ENST00000358543.4	37	c.287G>A	CCDS6150.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210169	0.79240	0.0	1.16E-4	ENSG00000196711	ENST00000358543;ENST00000523939	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000014	T	0.77731	0.4174	M	0.62723	1.935	0.38749	D	0.954054	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.80817	-0.1213	9	0.72032	D	0.01	.	18.0874	0.89462	0.0:1.0:0.0:0.0	.	96;96	B7ZMG9;Q6UXT8	.;F150A_HUMAN	Q	96	.	ENSP00000351345:R96Q	R	-	2	0	FAM150A	53614982	1.000000	0.71417	0.102000	0.21198	0.680000	0.39746	5.746000	0.68681	2.565000	0.86533	0.563000	0.77884	CGA		0.363	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377959.1	NM_207413		19	32	0	0	0	1	0	19	32				
SMR3A	26952	broad.mit.edu	37	4	71232381	71232381	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71232381C>T	ENST00000226460.4	+	3	171	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	25						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GTCAAAGAGGCCCCAGGGGAC	0.453																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(73-75)ggC>ggT		submaxillary gland androgen regulated protein 3A							60.0	61.0	60.0					4																	71232381		2203	4300	6503	SO:0001819	synonymous_variant	26952					extracellular region		g.chr4:71232381C>T	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.75C>T	4.37:g.71232381C>T							p.G25G	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			3	171	+		all_hematologic(202;0.196)	25						Silent	SNP	ENST00000226460.4	37	c.75C>T	CCDS34000.1																																																																																				0.453	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		31	33	0	0	0	1	0	31	33				
DNASE2	1777	broad.mit.edu	37	19	12989535	12989535	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12989535C>T	ENST00000222219.3	-	4	552	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	DNASE2_ENST00000538460.1_Intron|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	154					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGGTCTGCCCGTAGGTACAG	0.567																																						ENST00000222219.3																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						c.(460-462)Ggg>Agg		deoxyribonuclease II, lysosomal							68.0	58.0	62.0					19																	12989535		2203	4300	6503	SO:0001583	missense	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12989535C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.460G>A	19.37:g.12989535C>T	ENSP00000222219:p.Gly154Arg					DNASE2_ENST00000538460.1_Intron	p.G154R	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN			4	552	-			154					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.460G>A	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680479	0.68042	.	.	ENSG00000105612	ENST00000222219	T	0.28454	1.61	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.75806	-0.3188	10	0.72032	D	0.01	.	16.7369	0.85448	0.0:1.0:0.0:0.0	.	154	O00115	DNS2A_HUMAN	R	154	ENSP00000222219:G154R	ENSP00000222219:G154R	G	-	1	0	DNASE2	12850535	1.000000	0.71417	0.897000	0.35233	0.023000	0.10783	6.709000	0.74665	2.547000	0.85894	0.655000	0.94253	GGG		0.567	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			7	11	0	0	0	1	0	7	11				
NRXN2	9379	broad.mit.edu	37	11	64398031	64398031	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398031C>T	ENST00000377551.1	-	18	3811	c.3600G>A	c.(3598-3600)gtG>gtA	p.V1200V	NRXN2_ENST00000409571.1_Silent_p.V1193V|NRXN2_ENST00000377559.3_Silent_p.V1160V|NRXN2_ENST00000301894.2_Silent_p.V154V|NRXN2_ENST00000265459.6_Silent_p.V1200V			Q9P2S2	NRX2A_HUMAN	neurexin 2	1200	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGATCACCCCCACGGTGCCCT	0.592																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3598-3600)gtG>gtA		neurexin 2							108.0	76.0	87.0					11																	64398031		2201	4297	6498	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64398031C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3600G>A	11.37:g.64398031C>T						NRXN2_ENST00000301894.2_Silent_p.V154V|NRXN2_ENST00000377551.1_Silent_p.V1200V|NRXN2_ENST00000409571.1_Silent_p.V1193V|NRXN2_ENST00000377559.3_Silent_p.V1160V	p.V1200V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			19	4061	-			1200			Laminin G-like 6.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.3600G>A	CCDS8077.1																																																																																				0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	30	0	0	0	1	0	11	30				
TAF1L	138474	broad.mit.edu	37	9	32633160	32633160	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:32633160G>A	ENST00000242310.4	-	1	2507	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	806					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTCAAACAAGGGACACTGCT	0.413																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2416-2418)ccC>ccT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							156.0	157.0	156.0					9																	32633160		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633160G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2418C>T	9.37:g.32633160G>A							p.P806P	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2507	-			806					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2418C>T	CCDS35003.1																																																																																				0.413	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			58	25	0	0	0	1	0	58	25				
BUB1B	701	broad.mit.edu	37	15	40488920	40488920	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40488920C>T	ENST00000287598.6	+	9	1428	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	BUB1B_ENST00000412359.3_Silent_p.S425S	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	411					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGGAATTCTCCTTTGAAGAAA	0.408			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1231-1233)tcC>tcT		BUB1 mitotic checkpoint serine/threonine kinase B							99.0	100.0	100.0					15																	40488920		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40488920C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1233C>T	15.37:g.40488920C>T						BUB1B_ENST00000412359.3_Silent_p.S425S	p.S411S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	9	1428	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	411					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.1233C>T	CCDS10053.1																																																																																				0.408	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			40	47	0	0	0	1	0	40	47				
PRR35	146325	broad.mit.edu	37	16	613869	613869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:613869C>T	ENST00000409413.3	+	2	854	c.575C>T	c.(574-576)cCg>cTg	p.P192L		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		192	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TGCTATCCCCCGCCTGCCCCA	0.706																																						ENST00000409413.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(574-576)cCg>cTg		chromosome 16 open reading frame 11							10.0	12.0	11.0					16																	613869		1904	4087	5991	SO:0001583	missense	146325							g.chr16:613869C>T																												ENST00000409413.3:c.575C>T	16.37:g.613869C>T	ENSP00000386499:p.Pro192Leu						p.P192L	NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN			2	854	+			192			Pro-rich.		B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.575C>T	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913584	0.92178	.	.	ENSG00000161992	ENST00000409413	T	0.08102	3.13	5.06	5.06	0.68205	.	0.000000	0.53938	D	0.000059	T	0.29652	0.0740	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01621	-1.1310	10	0.62326	D	0.03	.	17.4186	0.87508	0.0:1.0:0.0:0.0	.	192	P0CG20	CP011_HUMAN	L	192	ENSP00000386499:P192L	ENSP00000386499:P192L	P	+	2	0	C16orf11	553870	1.000000	0.71417	0.108000	0.21378	0.006000	0.05464	3.820000	0.55693	2.364000	0.80123	0.563000	0.77884	CCG		0.706	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			3	4	0	0	0	1	0	3	4				
TRO	7216	broad.mit.edu	37	X	54955273	54955273	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54955273G>A	ENST00000173898.7	+	12	2228	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.E237K|TRO_ENST00000375041.2_Missense_Mutation_p.E309K	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	706					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATTTTCATTTGAAATTGAGGC	0.517																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2116-2118)Gaa>Aaa		trophinin							54.0	54.0	54.0					X																	54955273		1990	4189	6179	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955273G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2116G>A	X.37:g.54955273G>A	ENSP00000173898:p.Glu706Lys					TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.E309K|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.E237K	p.E706K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2228	+			706					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2116G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198026	0.38806	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.07216	3.85;3.21;3.57	2.95	2.95	0.34219	.	.	.	.	.	T	0.11410	0.0278	N	0.08118	0	0.34064	D	0.657633	D;D	0.67145	0.996;0.996	D;D	0.70227	0.933;0.968	T	0.35101	-0.9802	9	0.62326	D	0.03	.	11.1061	0.48203	0.0:0.0:1.0:0.0	.	309;706	B1AKE9;Q12816	.;TROP_HUMAN	K	706;237;309	ENSP00000173898:E706K;ENSP00000405126:E237K;ENSP00000364181:E309K	ENSP00000173898:E706K	E	+	1	0	TRO	54971998	0.960000	0.32886	0.999000	0.59377	0.437000	0.31866	1.350000	0.34010	1.744000	0.51775	0.544000	0.68410	GAA		0.517	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		14	19	0	0	0	1	0	14	19				
MAGEA4	4103	broad.mit.edu	37	X	151092751	151092751	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151092751C>T	ENST00000360243.2	+	3	882	c.615C>T	c.(613-615)atC>atT	p.I205I	MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000370337.4_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000370340.3_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	205	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGATAATCGTCCTGGGCA	0.562																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(613-615)atC>atT		melanoma antigen family A, 4							100.0	102.0	101.0					X																	151092751		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092751C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.615C>T	X.37:g.151092751C>T						MAGEA4_ENST00000360243.2_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I|MAGEA4_ENST00000370337.4_Silent_p.I205I	p.I205I			P43358	MAGA4_HUMAN			3	882	+	Acute lymphoblastic leukemia(192;6.56e-05)		205			MAGE.		Q14798	Silent	SNP	ENST00000360243.2	37	c.615C>T	CCDS14702.1																																																																																				0.562	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		108	105	0	0	0	1	0	108	105				
NICN1	84276	broad.mit.edu	37	3	49463814	49463814	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49463814G>A	ENST00000273598.3	-	2	266	c.180C>T	c.(178-180)atC>atT	p.I60I	NICN1_ENST00000436744.2_Silent_p.I60I|NICN1-AS1_ENST00000424915.1_RNA|NICN1_ENST00000422593.1_5'UTR	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	60						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACGGACACGGATGCTCAAAA	0.532																																						ENST00000273598.3																			0				kidney(1)|large_intestine(3)|lung(1)	5						c.(178-180)atC>atT		nicolin 1							96.0	82.0	86.0					3																	49463814		2203	4300	6503	SO:0001819	synonymous_variant	84276					microtubule|nucleus		g.chr3:49463814G>A	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.180C>T	3.37:g.49463814G>A						NICN1_ENST00000436744.2_Silent_p.I60I|NICN1_ENST00000422593.1_5'UTR	p.I60I	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	266	-			60					Q8IZQ2	Silent	SNP	ENST00000273598.3	37	c.180C>T	CCDS2798.1																																																																																				0.532	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		18	34	0	0	0	1	0	18	34				
VCAN	1462	broad.mit.edu	37	5	82834652	82834652	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82834652G>A	ENST00000265077.3	+	8	6395	c.5830G>A	c.(5830-5832)Gtg>Atg	p.V1944M	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V957M|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1944	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATACTCAACAGTGTCTCATCC	0.443																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5830-5832)Gtg>Atg		versican							82.0	81.0	81.0					5																	82834652		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834652G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5830G>A	5.37:g.82834652G>A	ENSP00000265077:p.Val1944Met					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V957M|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	p.V1944M	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6395	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1944			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5830G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499894	0.44455	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.85955	-2.02;-2.05;3.06	5.81	4.03	0.46877	.	0.354569	0.24352	N	0.039263	D	0.89104	0.6620	M	0.67953	2.075	0.58432	D	0.999994	P;D	0.71674	0.904;0.998	P;D	0.65573	0.73;0.936	D	0.88651	0.3182	10	0.62326	D	0.03	.	8.0782	0.30729	0.1784:0.0:0.8216:0.0	.	957;1944	P13611-2;P13611	.;CSPG2_HUMAN	M	1944;957;957	ENSP00000265077:V1944M;ENSP00000340062:V957M;ENSP00000426251:V957M	ENSP00000265077:V1944M	V	+	1	0	VCAN	82870408	0.022000	0.18835	0.231000	0.23993	0.245000	0.25701	1.019000	0.30014	1.468000	0.48064	0.591000	0.81541	GTG		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		41	57	0	0	0	1	0	41	57				
TMEM127	55654	broad.mit.edu	37	2	96919664	96919664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:96919664G>A	ENST00000258439.3	-	4	855	c.599C>T	c.(598-600)cCc>cTc	p.P200L	TMEM127_ENST00000432959.1_Missense_Mutation_p.P200L|TMEM127_ENST00000435268.1_Missense_Mutation_p.P116L	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	200					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TTCCTCTGTGGGGTAGTGGCG	0.607																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(598-600)cCc>cTc		transmembrane protein 127							64.0	61.0	62.0					2																	96919664		2203	4300	6503	SO:0001583	missense	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919664G>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.599C>T	2.37:g.96919664G>A	ENSP00000258439:p.Pro200Leu					TMEM127_ENST00000432959.1_Missense_Mutation_p.P200L|TMEM127_ENST00000435268.1_Missense_Mutation_p.P116L	p.P200L	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	855	-			200					D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.599C>T	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888065	0.91814	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.96041	-3.89;-3.89;-3.07	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96549	0.9406	10	0.66056	D	0.02	-21.3633	18.8075	0.92043	0.0:0.0:1.0:0.0	.	200	O75204	TM127_HUMAN	L	200;200;116	ENSP00000258439:P200L;ENSP00000416660:P200L;ENSP00000411810:P116L	ENSP00000258439:P200L	P	-	2	0	TMEM127	96283391	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	9.266000	0.95659	2.745000	0.94114	0.462000	0.41574	CCC		0.607	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		15	26	0	0	0	1	0	15	26				
THSD7A	221981	broad.mit.edu	37	7	11633120	11633120	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11633120C>T	ENST00000423059.4	-	3	1283	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	344					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCTTCTCTTGCTGGCAAAAGC	0.463										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1030-1032)caG>caA		thrombospondin, type I, domain containing 7A							107.0	105.0	105.0					7																	11633120		1919	4140	6059	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11633120C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1032G>A	7.37:g.11633120C>T		HNSCC(18;0.044)					p.Q344Q	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	3	1283	-			344						Silent	SNP	ENST00000423059.4	37	c.1032G>A	CCDS47543.1																																																																																				0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		24	69	0	0	0	1	0	24	69				
HAX1	10456	broad.mit.edu	37	1	154248134	154248134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154248134C>T	ENST00000328703.7	+	7	1010	c.797C>T	c.(796-798)tCc>tTc	p.S266F	HAX1_ENST00000483970.2_Missense_Mutation_p.S274F|HAX1_ENST00000457918.2_Missense_Mutation_p.S218F|HAX1_ENST00000532105.1_Missense_Mutation_p.S138F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	266	Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGCCTTTTCCATCCTGGAC	0.498									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(796-798)tCc>tTc		HCLS1 associated protein X-1							125.0	101.0	109.0					1																	154248134		2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154248134C>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.797C>T	1.37:g.154248134C>T	ENSP00000329002:p.Ser266Phe					HAX1_ENST00000532105.1_Missense_Mutation_p.S138F|HAX1_ENST00000457918.2_Missense_Mutation_p.S218F|HAX1_ENST00000483970.2_Missense_Mutation_p.S274F	p.S266F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		7	1010	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		266			Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.797C>T	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264195	0.80358	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000532105	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.23	5.23	0.72850	.	0.136011	0.50627	D	0.000102	T	0.78117	0.4233	M	0.79475	2.455	0.44201	D	0.99702	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81269	-0.1009	10	0.87932	D	0	-19.6011	14.2814	0.66216	0.0:1.0:0.0:0.0	.	274;240;218;266	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	F	266;218;274;138	ENSP00000329002:S266F;ENSP00000411448:S218F;ENSP00000435088:S274F;ENSP00000433951:S138F	ENSP00000329002:S266F	S	+	2	0	HAX1	152514758	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.811000	0.55620	2.442000	0.82660	0.563000	0.77884	TCC		0.498	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		11	28	0	0	0	1	0	11	28				
ADAMTS4	9507	broad.mit.edu	37	1	161163958	161163958	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163958G>A	ENST00000367996.5	-	5	1743	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	439	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TCCTTGCCAGGGAAAGTCACA	0.622																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1315-1317)Cct>Tct		ADAM metallopeptidase with thrombospondin type 1 motif, 4							60.0	67.0	65.0					1																	161163958		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163958G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1315C>T	1.37:g.161163958G>A	ENSP00000356975:p.Pro439Ser					ADAMTS4_ENST00000478394.1_5'UTR	p.P439S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1743	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		439			Disintegrin.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1315C>T	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099702	0.94197	.	.	ENSG00000158859	ENST00000367996	T	0.10860	2.83	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000005	T	0.42381	0.1200	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59878	-0.7371	10	0.87932	D	0	.	17.8603	0.88779	0.0:0.0:1.0:0.0	.	439	O75173	ATS4_HUMAN	S	439	ENSP00000356975:P439S	ENSP00000356975:P439S	P	-	1	0	ADAMTS4	159430582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.643000	0.98464	2.756000	0.94617	0.561000	0.74099	CCT		0.622	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		34	45	0	0	0	1	0	34	45				
ZIC5	85416	broad.mit.edu	37	13	100622742	100622742	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100622742G>A	ENST00000267294.4	-	1	1421	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	396	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTTGCAGATGAGCTCCTGCT	0.791																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1186-1188)ctC>ctT		Zic family member 5							5.0	6.0	5.0					13																	100622742		1793	3551	5344	SO:0001819	synonymous_variant	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100622742G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1188C>T	13.37:g.100622742G>A							p.L396L	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	1421	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		396			Pro-rich.		Q5VYB0	Silent	SNP	ENST00000267294.4	37	c.1188C>T	CCDS9494.2																																																																																				0.791	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		3	6	0	0	0	1	0	3	6				
CSF2RB	1439	broad.mit.edu	37	22	37325496	37325496	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37325496C>T	ENST00000403662.3	+	5	666	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CSF2RB_ENST00000406230.1_Silent_p.F148F|CSF2RB_ENST00000262825.5_Silent_p.F148F|CSF2RB_ENST00000536485.1_Silent_p.F89F			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	148	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGACCACTTCCTGCTGACCT	0.632																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(442-444)ttC>ttT		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						102.0	101.0	102.0					22																	37325496		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37325496C>T	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.444C>T	22.37:g.37325496C>T						CSF2RB_ENST00000403662.3_Silent_p.F148F|CSF2RB_ENST00000406230.1_Silent_p.F148F|CSF2RB_ENST00000536485.1_Silent_p.F89F	p.F148F	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			5	661	+			148			Fibronectin type-III 1.		Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.444C>T	CCDS13936.1																																																																																				0.632	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		47	104	0	0	0	1	0	47	104				
DMXL1	1657	broad.mit.edu	37	5	118510990	118510990	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118510990C>T	ENST00000311085.8	+	26	6796	c.6716C>T	c.(6715-6717)tCt>tTt	p.S2239F	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2239F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2239										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTTCACTTTCTGCTTGTATT	0.303																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6715-6717)tCt>tTt		Dmx-like 1							154.0	146.0	149.0					5																	118510990		2201	4297	6498	SO:0001583	missense	1657							g.chr5:118510990C>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6716C>T	5.37:g.118510990C>T	ENSP00000309690:p.Ser2239Phe					DMXL1_ENST00000539542.1_Missense_Mutation_p.S2239F	p.S2239F	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	26	6796	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2239						Missense_Mutation	SNP	ENST00000311085.8	37	c.6716C>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072384	0.93950	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.24350	1.86;1.87	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.80616	2.505	0.80722	D	1	P;P	0.52316	0.952;0.865	P;P	0.56700	0.804;0.71	T	0.53194	-0.8473	10	0.87932	D	0	-7.3317	19.9921	0.97370	0.0:1.0:0.0:0.0	.	2239;2239	F5H269;Q9Y485	.;DMXL1_HUMAN	F	2239	ENSP00000309690:S2239F;ENSP00000439479:S2239F	ENSP00000309690:S2239F	S	+	2	0	DMXL1	118538889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.830000	0.97506	0.655000	0.94253	TCT		0.303	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		22	18	0	0	0	1	0	22	18				
FAM178A	55719	broad.mit.edu	37	10	102684486	102684486	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684486C>T	ENST00000238961.4	+	5	2270	c.1728C>T	c.(1726-1728)gcC>gcT	p.A576A	FAM178A_ENST00000370271.3_Silent_p.A576A|FAM178A_ENST00000370269.3_Silent_p.A576A	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	576						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CAGATAAAGCCCCTTCAGAAG	0.463																																						ENST00000238961.3																			0											c.(1726-1728)gcC>gcT		family with sequence similarity 178, member A							84.0	83.0	83.0					10																	102684486		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102684486C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1728C>T	10.37:g.102684486C>T						FAM178A_ENST00000370271.3_Silent_p.A576A|FAM178A_ENST00000370269.3_Silent_p.A576A	p.A576A	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1876	+			576					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.1728C>T	CCDS7500.1																																																																																				0.463	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			19	45	0	0	0	1	0	19	45				
ZSCAN1	284312	broad.mit.edu	37	19	58549384	58549384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58549384G>A	ENST00000282326.1	+	3	427	c.180G>A	c.(178-180)tgG>tgA	p.W60*	ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.W60*|ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.W60*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCAGCTCTGGACGCTGTGCC	0.706																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(178-180)tgG>tgA		zinc finger and SCAN domain containing 1							14.0	15.0	15.0					19																	58549384		2178	4267	6445	SO:0001587	stop_gained	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549384G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.180G>A	19.37:g.58549384G>A	ENSP00000282326:p.Trp60*					ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.W60*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.W60*	p.W60*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	427	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	60			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	ENST00000282326.1	37	c.180G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683576	0.88639	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	.	.	.	2.09	-3.47	0.04753	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.2326	0.04000	0.3215:0.0:0.2515:0.4271	.	.	.	.	X	60	.	ENSP00000282326:W60X	W	+	3	0	ZSCAN1	63241196	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.765000	0.01799	-0.643000	0.05473	-0.507000	0.04495	TGG		0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		15	16	0	0	0	1	0	15	16				
ATRX	546	broad.mit.edu	37	X	76920140	76920140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76920140C>T	ENST00000373344.5	-	11	4151	c.3937G>A	c.(3937-3939)Gat>Aat	p.D1313N	ATRX_ENST00000395603.3_Missense_Mutation_p.D1275N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1313	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCACCCTCATCTCCTGGGTTT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3937-3939)Gat>Aat		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						211.0	193.0	199.0					X																	76920140		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920140C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3937G>A	X.37:g.76920140C>T	ENSP00000362441:p.Asp1313Asn					ATRX_ENST00000395603.3_Missense_Mutation_p.D1275N|ATRX_ENST00000480283.1_5'UTR	p.D1313N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4151	-			1313					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3937G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798420	0.50208	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.92647	-3.08;-3.08	4.89	4.89	0.63831	.	0.000000	0.64402	U	0.000012	D	0.94221	0.8145	L	0.60455	1.87	0.80722	D	1	P;D;D	0.71674	0.934;0.998;0.979	P;D;P	0.81914	0.642;0.995;0.747	D	0.93764	0.7069	10	0.49607	T	0.09	-5.8303	11.109	0.48221	0.0:0.912:0.0:0.088	.	1245;1275;1313	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	N	1313;1275;1240	ENSP00000362441:D1313N;ENSP00000378967:D1275N	ENSP00000362441:D1313N	D	-	1	0	ATRX	76806796	1.000000	0.71417	0.628000	0.29241	0.672000	0.39443	3.001000	0.49488	2.140000	0.66376	0.600000	0.82982	GAT		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		62	89	0	0	0	1	0	62	89				
GNAS	2778	broad.mit.edu	37	20	57429837	57429837	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57429837G>A	ENST00000371100.4	+	1	2069	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.R506Q|GNAS_ENST00000306120.3_Missense_Mutation_p.G443R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R506Q	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCCACCCGGGCAGCCCAA	0.746			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(1516-1518)cGg>cAg		GNAS complex locus							3.0	4.0	4.0					20																	57429837		1254	3158	4412	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429837G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1517G>A	20.37:g.57429837G>A	ENSP00000360141:p.Arg506Gln	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R506Q|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G443R|GNAS_ENST00000371102.4_Missense_Mutation_p.R506Q	p.R506Q	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	2069	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1517G>A	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.658325|1.658325	0.29425|0.29425	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.89270	.|-2.41;-2.49	4.3|4.3	-0.465|-0.465	0.12157|0.12157	.|.	.|1800.290000	.|0.00166	.|N	.|0.000000	D|D	0.86912|0.86912	0.6047|0.6047	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.26081	.|0.141	.|B	.|0.10450	.|0.005	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.17832|0.42905	T|T	0.49|0.14	.|.	12.0936|12.0936	0.53742|0.53742	0.0936:0.1515:0.7549:0.0|0.0936:0.1515:0.7549:0.0	.|.	.|506	.|Q5JWF2	.|GNAS1_HUMAN	R|Q	443|506	.|ENSP00000360141:R506Q;ENSP00000360143:R506Q	ENSP00000302237:G443R|ENSP00000360140:R506Q	G|R	+|+	1|2	0|0	GNAS|GNAS	56863232|56863232	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.621000|-0.621000	0.05559|0.05559	-0.233000|-0.233000	0.09797|0.09797	0.462000|0.462000	0.41574|0.41574	GGG|CGG		0.746	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		4	4	0	0	0	1	0	4	4				
PATE1	160065	broad.mit.edu	37	11	125617640	125617640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125617640G>C	ENST00000305738.5	+	4	182	c.170G>C	c.(169-171)gGa>gCa	p.G57A	PATE1_ENST00000437148.2_Missense_Mutation_p.G45A	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	57						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						CAGTTCCCAGGAGAAAAGTGC	0.473																																						ENST00000305738.5																			0				large_intestine(1)|lung(5)	6						c.(169-171)gGa>gCa		prostate and testis expressed 1							103.0	95.0	97.0					11																	125617640		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125617640G>C	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.170G>C	11.37:g.125617640G>C	ENSP00000307164:p.Gly57Ala					PATE1_ENST00000437148.2_Missense_Mutation_p.G45A	p.G57A	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN			4	182	+			57					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.170G>C	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171286	0.09391	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.46063	0.88;0.88	4.19	3.27	0.37495	.	0.213997	0.23734	N	0.045087	T	0.46502	0.1396	L	0.46157	1.445	0.09310	N	0.999999	D;D	0.59357	0.985;0.985	P;P	0.59056	0.807;0.851	T	0.20438	-1.0275	10	0.27785	T	0.31	-6.674	7.819	0.29276	0.1111:0.0:0.8889:0.0	.	45;57	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	A	57;45	ENSP00000307164:G57A;ENSP00000396056:G45A	ENSP00000307164:G57A	G	+	2	0	PATE1	125122850	0.970000	0.33590	0.130000	0.21974	0.039000	0.13416	1.785000	0.38684	1.353000	0.45828	0.655000	0.94253	GGA		0.473	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		36	52	0	0	0	1	0	36	52				
ZNF567	163081	broad.mit.edu	37	19	37211305	37211305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37211305C>T	ENST00000536254.2	+	6	1901	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	ZNF567_ENST00000588311.1_Missense_Mutation_p.S529F|ZNF567_ENST00000360729.4_Missense_Mutation_p.S529F|ZNF567_ENST00000392163.2_Missense_Mutation_p.S529F|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.S529F			Q8N184	ZN567_HUMAN	zinc finger protein 567	560					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCCAGAAATCCTATGAATGT	0.418																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1585-1587)tCc>tTc		zinc finger protein 567							67.0	69.0	68.0					19																	37211305		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211305C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1679C>T	19.37:g.37211305C>T	ENSP00000441838:p.Ser560Phe					ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.S529F|ZNF567_ENST00000360729.4_Missense_Mutation_p.S529F|ZNF567_ENST00000588311.1_Missense_Mutation_p.S529F|ZNF567_ENST00000536254.2_Missense_Mutation_p.S560F	p.S529F			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2816	+	Esophageal squamous(110;0.198)		560					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1586C>T		.	.	.	.	.	.	.	.	.	.	C	17.92	3.507285	0.64410	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.17691	2.26;2.26;2.26	4.92	3.89	0.44902	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.158164	0.30347	N	0.009840	T	0.31765	0.0807	L	0.46614	1.455	0.80722	D	1	B;D	0.71674	0.036;0.998	B;D	0.79108	0.025;0.992	T	0.01273	-1.1399	10	0.87932	D	0	.	11.0185	0.47705	0.0:0.9073:0.0:0.0927	.	560;529	Q8N184;F8WEL6	ZN567_HUMAN;.	F	560;504;529;559;529	ENSP00000441838:S560F;ENSP00000353957:S529F;ENSP00000376003:S529F	ENSP00000353957:S529F	S	+	2	0	ZNF567	41903145	0.845000	0.29573	1.000000	0.80357	0.994000	0.84299	5.316000	0.65815	2.716000	0.92895	0.561000	0.74099	TCC		0.418	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		41	57	0	0	0	1	0	41	57				
TMEM55A	55529	broad.mit.edu	37	8	92007924	92007924	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007924G>A	ENST00000285419.3	-	7	1069	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTGTGTTCTGGATAACTGAC	0.398																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(754-756)cCa>cTa		transmembrane protein 55A							115.0	110.0	112.0					8																	92007924		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92007924G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.755C>T	8.37:g.92007924G>A	ENSP00000285419:p.Pro252Leu						p.P252L	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	1069	-			252					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.755C>T	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233812	0.58886	.	.	ENSG00000155099	ENST00000285419	.	.	.	5.36	5.36	0.76844	.	0.099665	0.64402	D	0.000001	T	0.66046	0.2750	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.60672	-0.7217	9	0.25106	T	0.35	-5.9845	19.4348	0.94786	0.0:0.0:1.0:0.0	.	252	Q8N4L2	TM55A_HUMAN	L	252	.	ENSP00000285419:P252L	P	-	2	0	TMEM55A	92077100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.663000	0.90544	0.650000	0.86243	CCA		0.398	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		21	49	0	0	0	1	0	21	49				
RBM42	79171	broad.mit.edu	37	19	36128163	36128163	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36128163C>T	ENST00000262633.4	+	9	1344	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	RBM42_ENST00000586618.1_Silent_p.I117I|RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000360475.4_Silent_p.I384I|RBM42_ENST00000588161.1_Silent_p.I383I	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	413	Necessary for interaction with HNRNPK. {ECO:0000250}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAAGGTGATCCGTGACAAGC	0.587																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1237-1239)atC>atT		RNA binding motif protein 42							110.0	82.0	92.0					19																	36128163		2203	4300	6503	SO:0001819	synonymous_variant	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128163C>T	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1239C>T	19.37:g.36128163C>T						RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000588161.1_Silent_p.I383I|RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000360475.4_Silent_p.I384I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Silent_p.I117I	p.I413I	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		9	1344	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		413			Necessary for interaction with HNRNPK (By similarity).|RRM.		O00320|Q8N5R7|Q9BU66	Silent	SNP	ENST00000262633.4	37	c.1239C>T	CCDS12468.1																																																																																				0.587	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		33	43	0	0	0	1	0	33	43				
MAP1A	4130	broad.mit.edu	37	15	43820400	43820400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43820400C>T	ENST00000300231.5	+	4	7179	c.6729C>T	c.(6727-6729)ctC>ctT	p.L2243L	MAP1A_ENST00000399453.1_Silent_p.L2243L|MAP1A_ENST00000382031.1_Silent_p.L2481L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2243					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)	GGGCCCCTCTCCTCTCCAATC	0.617																																						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.(7441-7443)ctC>ctT		microtubule-associated protein 1A	Estramustine(DB01196)						63.0	70.0	68.0					15																	43820400		1927	4116	6043	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820400C>T	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.6729C>T	15.37:g.43820400C>T						MAP1A_ENST00000300231.5_Silent_p.L2243L|MAP1A_ENST00000399453.1_Silent_p.L2243L	p.L2481L			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7474	+		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)	2243					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7443C>T	CCDS42031.1																																																																																				0.617	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		55	96	0	0	0	1	0	55	96				
MROH5	389690	broad.mit.edu	37	8	142481271	142481271	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142481271C>T	ENST00000430863.1	-	0	1970					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		ATTGCCCAATCCTTTTGAAGT	0.577																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							102.0	104.0	103.0					8																	142481271		1999	4184	6183			389690							g.chr8:142481271C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142481271C>T								NM_207414.2	NP_997297.2					0	1970	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.577	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		22	37	0	0	0	1	0	22	37				
PRB2	653247	broad.mit.edu	37	12	11546120	11546120	+	Nonsense_Mutation	SNP	G	G	A	rs370037117	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11546120G>A	ENST00000389362.4	-	3	927	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	298	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGGAGATCGAGAACTTCGG	0.612																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(892-894)Cga>Tga		proline-rich protein BstNI subfamily 2		G	stop/ARG	2,4390		0,2,2194	192.0	241.0	224.0		892	0.5	0.0	12		224	0,8600		0,0,4300	no	stop-gained	PRB2	NM_006248.3		0,2,6494	AA,AG,GG		0.0,0.0455,0.0154		298/417	11546120	2,12990	2196	4300	6496	SO:0001587	stop_gained	653247							g.chr12:11546120G>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.892C>T	12.37:g.11546120G>A	ENSP00000374013:p.Arg298*					PRB1_ENST00000546254.1_Intron	p.R298*	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	927	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Nonsense_Mutation	SNP	ENST00000389362.4	37	c.892C>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	14.64	2.595182	0.46318	4.55E-4	0.0	ENSG00000121335	ENST00000389362	.	.	.	1.53	0.484	0.16825	.	.	.	.	.	.	.	.	.	.	.	0.42886	A	0.994188	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	4.6042	0.12368	0.243:0.0:0.757:0.0	.	.	.	.	X	298	.	ENSP00000374013:R298X	R	-	1	2	PRB2	11437387	0.022000	0.18835	0.001000	0.08648	0.112000	0.19704	1.050000	0.30404	-0.028000	0.13850	0.109000	0.15622	CGA		0.612	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		135	257	0	0	0	1	0	135	257				
NES	10763	broad.mit.edu	37	1	156642835	156642835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156642835G>A	ENST00000368223.3	-	4	1277	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	382	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAAGGTAGGGGTACGGGCCTG	0.602																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1144-1146)aCc>aTc		nestin							79.0	97.0	91.0					1																	156642835		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642835G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1145C>T	1.37:g.156642835G>A	ENSP00000357206:p.Thr382Ile						p.T382I	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1277	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		382			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1145C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100734	0.20552	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.90844	-2.74	5.0	2.98	0.34508	.	0.258525	0.20515	N	0.090802	T	0.77226	0.4099	L	0.47716	1.5	0.09310	N	0.999997	B	0.34372	0.451	B	0.33750	0.169	T	0.69442	-0.5144	10	0.49607	T	0.09	.	7.8894	0.29669	0.0925:0.1639:0.7436:0.0	.	382	P48681	NEST_HUMAN	I	382	ENSP00000357206:T382I	ENSP00000255024:T382I	T	-	2	0	NES	154909459	0.962000	0.33011	0.631000	0.29282	0.324000	0.28378	1.622000	0.36997	1.101000	0.41535	0.467000	0.42956	ACC		0.602	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		56	45	0	0	0	1	0	56	45				
SLC16A10	117247	broad.mit.edu	37	6	111543266	111543266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:111543266C>T	ENST00000368851.5	+	6	1551	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	SLC16A10_ENST00000368850.3_Missense_Mutation_p.P145L	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	459					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGAGTCCCTCCCCTTATTGGA	0.458																																						ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(433-435)cCc>cTc		solute carrier family 16 (aromatic amino acid transporter), member 10							148.0	142.0	144.0					6																	111543266		2203	4300	6503	SO:0001583	missense	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111543266C>T	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1376C>T	6.37:g.111543266C>T	ENSP00000357844:p.Pro459Leu					SLC16A10_ENST00000368851.5_Missense_Mutation_p.P459L	p.P145L			Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	5	920	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	459					B3KWY0|Q6ZMG0|Q8WVI5	Missense_Mutation	SNP	ENST00000368851.5	37	c.434C>T	CCDS5089.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461107	0.84317	.	.	ENSG00000112394	ENST00000368851;ENST00000368850	T;T	0.53206	0.63;0.63	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51060	-0.8753	10	0.02654	T	1	.	19.4431	0.94831	0.0:1.0:0.0:0.0	.	459	Q8TF71	MOT10_HUMAN	L	459;145	ENSP00000357844:P459L;ENSP00000357843:P145L	ENSP00000357843:P145L	P	+	2	0	SLC16A10	111649959	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.267000	0.78462	2.569000	0.86673	0.655000	0.94253	CCC		0.458	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			43	21	0	0	0	1	0	43	21				
TMEM156	80008	broad.mit.edu	37	4	39000474	39000474	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:39000474A>C	ENST00000381938.3	-	2	251	c.144T>G	c.(142-144)taT>taG	p.Y48*	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	48			Y -> C (in dbSNP:rs35576563).			integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGGAGAGTGAATAGGTAAAAT	0.328																																						ENST00000381938.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(142-144)taT>taG		transmembrane protein 156							47.0	49.0	48.0					4																	39000474		2203	4300	6503	SO:0001587	stop_gained	80008					integral to membrane		g.chr4:39000474A>C	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.144T>G	4.37:g.39000474A>C	ENSP00000371364:p.Tyr48*					TMEM156_ENST00000372489.2_5'UTR	p.Y48*	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN			2	251	-			48		Y -> C (in dbSNP:rs35576563).			Q9H5N9	Nonsense_Mutation	SNP	ENST00000381938.3	37	c.144T>G	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881051	0.51801	.	.	ENSG00000121895	ENST00000381938;ENST00000344606	.	.	.	4.89	-0.415	0.12355	.	0.727649	0.12800	N	0.438121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8955	7.6231	0.28197	0.6415:0.0:0.3585:0.0	.	.	.	.	X	48	.	ENSP00000343758:Y48X	Y	-	3	2	TMEM156	38676869	0.997000	0.39634	0.001000	0.08648	0.048000	0.14542	1.143000	0.31553	-0.110000	0.12022	-0.263000	0.10527	TAT		0.328	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943		16	25	0	0	0	1	0	16	25				
RENBP	5973	broad.mit.edu	37	X	153205608	153205608	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153205608C>T	ENST00000393700.3	-	9	1104	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.D328N	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	342					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AGCACAGGGTCCCCACTGTCA	0.602																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1024-1026)Gac>Aac		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						136.0	95.0	109.0					X																	153205608		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153205608C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1024G>A	X.37:g.153205608C>T	ENSP00000377303:p.Asp342Asn					RENBP_ENST00000369997.3_Missense_Mutation_p.D328N|RENBP_ENST00000412763.1_3'UTR	p.D342N	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			9	1104	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		342					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.1024G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162922	0.38217	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.35973	1.28;1.28;1.28	4.79	4.79	0.61399	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.307051	0.34959	N	0.003551	T	0.35278	0.0926	M	0.62209	1.925	0.80722	D	1	P	0.34522	0.455	B	0.29353	0.101	T	0.19451	-1.0305	10	0.31617	T	0.26	-26.8103	15.9898	0.80197	0.0:1.0:0.0:0.0	.	342	P51606	RENBP_HUMAN	N	342;328;21	ENSP00000377303:D342N;ENSP00000359014:D328N;ENSP00000409034:D21N	ENSP00000359014:D328N	D	-	1	0	RENBP	152858802	0.998000	0.40836	0.984000	0.44739	0.437000	0.31866	2.851000	0.48302	2.111000	0.64477	0.600000	0.82982	GAC		0.602	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		48	46	0	0	0	1	0	48	46				
OR10A4	283297	broad.mit.edu	37	11	6898760	6898760	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6898760G>A	ENST00000379829.2	+	1	905	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	294					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCTCAAGGAATAAAGAAG	0.493																																						ENST00000379829.2																			0				kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31						c.(880-882)agG>agA		olfactory receptor, family 10, subfamily A, member 4							109.0	107.0	108.0					11																	6898760		2201	4296	6497	SO:0001819	synonymous_variant	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898760G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.882G>A	11.37:g.6898760G>A							p.R294R	NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	905	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	294					B2RNP5|B9EH36|Q96R20	Silent	SNP	ENST00000379829.2	37	c.882G>A	CCDS7774.1																																																																																				0.493	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		46	68	0	0	0	1	0	46	68				
PNPLA1	285848	broad.mit.edu	37	6	36275465	36275465	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:36275465C>T	ENST00000394571.2	+	8	1571	c.1571C>T	c.(1570-1572)tCc>tTc	p.S524F	PNPLA1_ENST00000312917.5_Missense_Mutation_p.S438F|PNPLA1_ENST00000388715.3_Missense_Mutation_p.S429F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	524					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CATTCGGGATCCAAAAAACCA	0.473																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1570-1572)tCc>tTc		patatin-like phospholipase domain containing 1							91.0	83.0	86.0					6																	36275465		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36275465C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1571C>T	6.37:g.36275465C>T	ENSP00000378072:p.Ser524Phe					PNPLA1_ENST00000388715.3_Missense_Mutation_p.S429F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S438F	p.S524F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			8	1571	+			524					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.1571C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693326	0.48202	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.41400	1.21;1.21;1.0;1.01	5.46	2.67	0.31697	.	1.146050	0.06614	N	0.756101	T	0.15782	0.0380	L	0.34521	1.04	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.19391	0.011;0.025	T	0.40175	-0.9577	10	0.87932	D	0	-0.9957	7.7474	0.28877	0.0:0.603:0.3115:0.0855	.	524;438	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	F	429;438;525;524	ENSP00000373367:S429F;ENSP00000321116:S438F;ENSP00000391868:S525F;ENSP00000378072:S524F	ENSP00000321116:S438F	S	+	2	0	PNPLA1	36383443	0.004000	0.15560	0.000000	0.03702	0.031000	0.12232	0.817000	0.27281	0.257000	0.21650	0.655000	0.94253	TCC		0.473	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		4	18	0	0	0	1	0	4	18				
ZNF28	7576	broad.mit.edu	37	19	53303906	53303906	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53303906G>A	ENST00000457749.2	-	4	1311	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZNF28_ENST00000360272.4_Missense_Mutation_p.L345F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L345F|ZNF28_ENST00000438150.2_Missense_Mutation_p.L345F	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	398					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)		TGTCTTTCAAGATGTGATTTG	0.378																																						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.(1033-1035)Ctt>Ttt		zinc finger protein 28							102.0	106.0	105.0					19																	53303906		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303906G>A	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.1192C>T	19.37:g.53303906G>A	ENSP00000397693:p.Leu398Phe					ZNF28_ENST00000360272.4_Missense_Mutation_p.L345F|ZNF28_ENST00000457749.2_Missense_Mutation_p.L398F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L345F	p.L345F			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1926	-			398					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1033C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	12.49	1.953212	0.34471	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	1.75	0.635	0.17723	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62708	0.2450	M	0.82517	2.595	0.09310	N	1	D	0.67145	0.996	P	0.60886	0.88	T	0.51857	-0.8652	9	0.66056	D	0.02	.	6.9693	0.24640	0.1611:0.0:0.8389:0.0	.	398	P17035	ZNF28_HUMAN	F	345;398;345;345;345	ENSP00000412143:L345F;ENSP00000397693:L398F;ENSP00000353410:L345F;ENSP00000444965:L345F;ENSP00000375661:L345F	ENSP00000353410:L345F	L	-	1	0	ZNF28	57995718	0.302000	0.24454	0.001000	0.08648	0.139000	0.21198	1.101000	0.31037	0.076000	0.16826	0.196000	0.17591	CTT		0.378	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		43	81	0	0	0	1	0	43	81				
PDSS1	23590	broad.mit.edu	37	10	26994289	26994289	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26994289G>A	ENST00000376215.5	+	4	355	c.302G>A	c.(301-303)aGa>aAa	p.R101K	PDSS1_ENST00000376203.5_Missense_Mutation_p.R101K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	101					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CTCGGTTGGAGAGACTTGAAA	0.368																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(301-303)aGa>aAa		prenyl (decaprenyl) diphosphate synthase, subunit 1							72.0	65.0	68.0					10																	26994289		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:26994289G>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.302G>A	10.37:g.26994289G>A	ENSP00000365388:p.Arg101Lys					PDSS1_ENST00000376203.5_Missense_Mutation_p.R101K	p.R101K	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			4	355	+			101					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.302G>A	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654342	0.29425	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	T;T	0.62498	0.02;0.02	5.33	5.33	0.75918	Terpenoid synthase (2);	0.051379	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41710	1.295	0.35932	D	0.832593	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.001	T	0.47995	-0.9073	10	0.06494	T	0.89	-16.1427	11.9811	0.53121	0.0844:0.0:0.9156:0.0	.	101;101	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	K	101;101;62	ENSP00000365388:R101K;ENSP00000365376:R101K	ENSP00000365376:R101K	R	+	2	0	PDSS1	27034295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.563000	0.60823	2.470000	0.83445	0.650000	0.86243	AGA		0.368	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			13	21	0	0	0	1	0	13	21				
C17orf77	146723	broad.mit.edu	37	17	72588512	72588512	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72588512G>A	ENST00000392620.1	+	3	689	c.327G>A	c.(325-327)aaG>aaA	p.K109K	CD300LD_ENST00000375352.1_5'Flank|C17orf77_ENST00000328023.2_Silent_p.K109K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	109						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TAGGAGAAAAGAGGTGTCATT	0.428																																						ENST00000392620.1																			0				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(325-327)aaG>aaA		chromosome 17 open reading frame 77							118.0	116.0	117.0					17																	72588512		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588512G>A		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.327G>A	17.37:g.72588512G>A						C17orf77_ENST00000328023.2_Silent_p.K109K	p.K109K	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN			3	689	+			109						Silent	SNP	ENST00000392620.1	37	c.327G>A	CCDS32721.1																																																																																				0.428	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		46	57	0	0	0	1	0	46	57				
TTN	7273	broad.mit.edu	37	2	179467060	179467060	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179467060C>T	ENST00000591111.1	-	233	50370	c.50146G>A	c.(50146-50148)Gaa>Aaa	p.E16716K	TTN_ENST00000342175.6_Missense_Mutation_p.E9484K|TTN_ENST00000342992.6_Missense_Mutation_p.E15789K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E18357K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9417K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9292K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16716	Fibronectin type-III 21. {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)			GGTTCAGATTCACCAGCTTCA	0.398																																						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.(55069-55071)Gaa>Aaa		titin							132.0	130.0	130.0					2																	179467060		1887	4109	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179467060C>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.50146G>A	2.37:g.179467060C>T	ENSP00000465570:p.Glu16716Lys					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15789K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16716K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9417K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9484K|TTN_ENST00000460472.2_Missense_Mutation_p.E9292K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.E18357K	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)		283	55293	-			16716			Fibronectin type-III 33.		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.55069G>A		.	.	.	.	.	.	.	.	.	.	C	14.84	2.654163	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55353	0.1915	L	0.33753	1.03	0.49483	D	0.999798	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;D	0.64506	0.829;0.829;0.829;0.926	T	0.56595	-0.7953	9	0.87932	D	0	.	19.9795	0.97321	0.0:1.0:0.0:0.0	.	9292;9417;9484;16716	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15789;9292;9484;9417;9292	ENSP00000343764:E15789K;ENSP00000434586:E9292K;ENSP00000340554:E9484K;ENSP00000352154:E9417K	ENSP00000340554:E9484K	E	-	1	0	TTN	179175305	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.790000	0.62453	2.720000	0.93068	0.650000	0.86243	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	41	0	0	0	1	0	14	41				
USP33	23032	broad.mit.edu	37	1	78191355	78191355	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:78191355G>A	ENST00000370793.1	-	12	1667	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	USP33_ENST00000370792.3_Missense_Mutation_p.P441S|USP33_ENST00000357428.1_Missense_Mutation_p.P441S|USP33_ENST00000370794.3_Missense_Mutation_p.P410S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	441	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CCTGATTTAGGAGGGCTTGCC	0.403																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.(1321-1323)Cct>Tct		ubiquitin specific peptidase 33							142.0	122.0	129.0					1																	78191355		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78191355G>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1321C>T	1.37:g.78191355G>A	ENSP00000359829:p.Pro441Ser					USP33_ENST00000370792.3_Missense_Mutation_p.P441S|USP33_ENST00000370794.3_Missense_Mutation_p.P410S|USP33_ENST00000357428.1_Missense_Mutation_p.P441S	p.P441S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			12	1667	-			441					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.1321C>T	CCDS678.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109230	0.77096	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.10005	2.95;2.94;2.94;2.92	5.62	5.62	0.85841	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.773467	0.12968	N	0.424415	T	0.20333	0.0489	L	0.47016	1.485	0.80722	D	1	B;D;D	0.65815	0.031;0.995;0.988	B;D;D	0.66979	0.11;0.948;0.911	T	0.00719	-1.1595	10	0.38643	T	0.18	.	20.1	0.97870	0.0:0.0:1.0:0.0	.	441;410;441	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	S	410;441;441;441	ENSP00000359830:P410S;ENSP00000359829:P441S;ENSP00000350009:P441S;ENSP00000359828:P441S	ENSP00000350009:P441S	P	-	1	0	USP33	77963943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.325000	0.90007	2.834000	0.97654	0.585000	0.79938	CCT		0.403	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		26	29	0	0	0	1	0	26	29				
ST18	9705	broad.mit.edu	37	8	53126851	53126851	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53126851C>T	ENST00000276480.7	-	7	651		c.e7-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGGTCATTCCTTTGACATTG	0.423																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.e7-1		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							114.0	103.0	107.0					8																	53126851		2203	4300	6503	SO:0001630	splice_region_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53126851C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.33-1G>A	8.37:g.53126851C>T								NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			7	651	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)						Q17RY1	Splice_Site	SNP	ENST00000276480.7	37		CCDS6149.1																																																																																				0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		Intron	23	31	0	0	0	1	0	23	31				
ZNF599	148103	broad.mit.edu	37	19	35250228	35250228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35250228G>A	ENST00000329285.8	-	4	1851	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	493					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCGAGTGAAGGAAGAGCTATA	0.413																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(1477-1479)tCc>tTc		zinc finger protein 599							132.0	133.0	132.0					19																	35250228		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250228G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1478C>T	19.37:g.35250228G>A	ENSP00000333802:p.Ser493Phe						p.S493F	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1851	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		493					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.1478C>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.373553	0.01214	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.07567	3.18	2.67	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14960	0.0361	M	0.64260	1.97	0.09310	N	0.999999	P	0.43885	0.82	P	0.50082	0.63	T	0.09185	-1.0686	9	0.56958	D	0.05	.	7.2316	0.26046	0.0:0.0:0.5189:0.481	.	493	Q96NL3	ZN599_HUMAN	F	492;493;267	ENSP00000333802:S493F	ENSP00000333802:S493F	S	-	2	0	ZNF599	39942068	0.000000	0.05858	0.015000	0.15790	0.004000	0.04260	-0.821000	0.04452	0.668000	0.31126	-0.282000	0.10007	TCC		0.413	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		51	93	0	0	0	1	0	51	93				
SLITRK5	26050	broad.mit.edu	37	13	88327801	88327801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:88327801C>T	ENST00000325089.6	+	2	377	c.158C>T	c.(157-159)cCt>cTt	p.P53L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	53					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AATGCATGTCCTTGTGAGGAA	0.478																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(157-159)cCt>cTt		SLIT and NTRK-like family, member 5							173.0	147.0	156.0					13																	88327801		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327801C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.158C>T	13.37:g.88327801C>T	ENSP00000366283:p.Pro53Leu					SLITRK5_ENST00000400028.3_Intron	p.P53L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	377	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		53					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.158C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	8.834	0.940497	0.18281	.	.	ENSG00000165300	ENST00000325089	T	0.57595	0.39	5.7	5.7	0.88788	.	0.126462	0.53938	D	0.000051	T	0.34542	0.0901	N	0.10782	0.045	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.15752	-1.0426	9	.	.	.	-6.7275	17.3316	0.87265	0.0:1.0:0.0:0.0	.	53	O94991	SLIK5_HUMAN	L	53	ENSP00000366283:P53L	.	P	+	2	0	SLITRK5	87125802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.072000	0.71238	2.711000	0.92665	0.561000	0.74099	CCT		0.478	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			38	70	0	0	0	1	0	38	70				
COL11A1	1301	broad.mit.edu	37	1	103488399	103488399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488399C>T	ENST00000370096.3	-	8	1456	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.D343N|COL11A1_ENST00000358392.2_Missense_Mutation_p.D394N	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	382	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCATAAAAATCATATTCGCCT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1180-1182)Gat>Aat		collagen, type XI, alpha 1							75.0	75.0	75.0					1																	103488399		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488399C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1144G>A	1.37:g.103488399C>T	ENSP00000359114:p.Asp382Asn					COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D343N	p.D394N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1497	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	382			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1180G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472239	0.43942	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.89343	-2.5;-0.57;-2.5;-0.58	5.26	4.34	0.51931	.	0.168371	0.51477	D	0.000095	D	0.83501	0.5268	M	0.81942	2.565	0.40755	D	0.98295	B;B;B	0.22414	0.069;0.069;0.041	B;B;B	0.21917	0.037;0.037;0.016	T	0.81061	-0.1103	10	0.30078	T	0.28	.	14.1875	0.65614	0.0:0.8504:0.1496:0.0	.	343;394;382	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	N	382;394;343;394	ENSP00000359114:D382N;ENSP00000351163:D394N;ENSP00000302551:D343N;ENSP00000408640:D394N	ENSP00000302551:D343N	D	-	1	0	COL11A1	103260987	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	3.779000	0.55379	1.183000	0.42943	-0.189000	0.12847	GAT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	17	0	0	0	1	0	28	17				
CNTN3	5067	broad.mit.edu	37	3	74315789	74315789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:74315789C>T	ENST00000263665.6	-	21	2856	c.2829G>A	c.(2827-2829)agG>agA	p.R943R	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	943	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACTGCTAGTCCTATAGAAAA	0.323																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2827-2829)agG>agA		contactin 3 (plasmacytoma associated)							134.0	123.0	127.0					3																	74315789		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315789C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2829G>A	3.37:g.74315789C>T						CNTN3_ENST00000477856.1_5'UTR	p.R943R	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	2856	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	943			Fibronectin type-III 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2829G>A	CCDS33790.1																																																																																				0.323	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		25	45	0	0	0	1	0	25	45				
FMN2	56776	broad.mit.edu	37	1	240371744	240371744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371744C>T	ENST00000319653.9	+	5	3862	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCACCTCCTCCCTTGCCAGGT	0.642																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3631-3633)cCc>cTc		formin 2							21.0	21.0	21.0					1																	240371744		2202	4300	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371744C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3632C>T	1.37:g.240371744C>T	ENSP00000318884:p.Pro1211Leu						p.P1211L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3862	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1211			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3632C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004663	0.35320	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	3.63	3.63	0.41609	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.78400	0.4277	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80951	-0.1153	8	.	.	.	.	15.4656	0.75397	0.0:1.0:0.0:0.0	.	1211	Q9NZ56	FMN2_HUMAN	L	1211	ENSP00000318884:P1211L	.	P	+	2	0	FMN2	238438367	0.999000	0.42202	0.973000	0.42090	0.776000	0.43924	4.303000	0.59098	1.842000	0.53543	0.290000	0.19541	CCC		0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	3	0	0	0	1	0	5	3				
SLC6A1	6529	broad.mit.edu	37	3	11072908	11072908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11072908G>A	ENST00000287766.4	+	13	1790	c.1369G>A	c.(1369-1371)Ggc>Agc	p.G457S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G279S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	457					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTCTGCCAGTGGCATGAGCCT	0.478																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1369-1371)Ggc>Agc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						303.0	278.0	286.0					3																	11072908		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11072908G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1369G>A	3.37:g.11072908G>A	ENSP00000287766:p.Gly457Ser					SLC6A1_ENST00000536032.1_Missense_Mutation_p.G279S	p.G457S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	13	1790	+		Ovarian(110;0.0392)	457					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.1369G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407814	0.96051	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.74737	-0.87;-0.87	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.80544	0.4643	M	0.68728	2.09	0.80722	D	1	D	0.52996	0.957	P	0.49853	0.624	T	0.83066	-0.0145	10	0.87932	D	0	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	457	P30531	SC6A1_HUMAN	S	457;279	ENSP00000287766:G457S;ENSP00000445171:G279S	ENSP00000287766:G457S	G	+	1	0	SLC6A1	11047908	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.700000	0.98707	2.587000	0.87381	0.655000	0.94253	GGC		0.478	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		75	130	0	0	0	1	0	75	130				
UHRF1BP1	54887	broad.mit.edu	37	6	34838701	34838701	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34838701G>A	ENST00000192788.5	+	18	3960	c.3789G>A	c.(3787-3789)gaG>gaA	p.E1263E	UHRF1BP1_ENST00000452449.2_Silent_p.E1263E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1263							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTCGCTTTGAGGTGGGGCCTG	0.512																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3787-3789)gaG>gaA		UHRF1 binding protein 1							71.0	71.0	71.0					6																	34838701		1941	4150	6091	SO:0001819	synonymous_variant	54887							g.chr6:34838701G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3789G>A	6.37:g.34838701G>A						UHRF1BP1_ENST00000452449.2_Silent_p.E1263E	p.E1263E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			18	3960	+			1263					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3789G>A	CCDS43455.1																																																																																				0.512	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		21	19	0	0	0	1	0	21	19				
DACH2	117154	broad.mit.edu	37	X	85906077	85906077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:85906077C>T	ENST00000373125.4	+	4	679	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	DACH2_ENST00000508860.1_Nonsense_Mutation_p.Q60*|DACH2_ENST00000373131.1_Nonsense_Mutation_p.Q214*|DACH2_ENST00000510272.1_Nonsense_Mutation_p.Q8*	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	227					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGAAACTTCAGAAGATGAA	0.363																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(640-642)Cag>Tag		dachshund homolog 2 (Drosophila)							84.0	67.0	73.0					X																	85906077		2203	4300	6503	SO:0001587	stop_gained	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906077C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.679C>T	X.37:g.85906077C>T	ENSP00000362217:p.Gln227*					DACH2_ENST00000510272.1_Nonsense_Mutation_p.Q8*|DACH2_ENST00000373125.4_Nonsense_Mutation_p.Q227*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.Q60*	p.Q214*	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			3	803	+			227					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Nonsense_Mutation	SNP	ENST00000373125.4	37	c.640C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409634	0.96072	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	.	.	.	4.45	3.58	0.41010	.	0.000000	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.975	0.53087	0.0:0.9124:0.0:0.0876	.	.	.	.	X	227;214;227;60;8;60	.	ENSP00000345134:Q227X	Q	+	1	0	DACH2	85792733	1.000000	0.71417	0.642000	0.29436	0.694000	0.40290	5.530000	0.67141	0.686000	0.31488	0.513000	0.50165	CAG		0.363	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		19	20	0	0	0	1	0	19	20				
TDG	6996	broad.mit.edu	37	12	104378614	104378614	+	Missense_Mutation	SNP	G	G	A	rs538758245		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:104378614G>A	ENST00000392872.3	+	8	1114	c.880G>A	c.(880-882)Gac>Aac	p.D294N	TDG_ENST00000266775.9_Missense_Mutation_p.D290N|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.D90N|TDG_ENST00000544861.1_Missense_Mutation_p.D151N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	294					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAACTGAAGGACTTAAGAGA	0.418								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0008	0.0	5008	,	,		25296	0.0		0.0	False		,,,				2504	0.0					ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(880-882)Gac>Aac	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							129.0	110.0	116.0					12																	104378614		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104378614G>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.880G>A	12.37:g.104378614G>A	ENSP00000376611:p.Asp294Asn					TDG_ENST00000544861.1_Missense_Mutation_p.D151N|TDG_ENST00000266775.9_Missense_Mutation_p.D290N|TDG_ENST00000542036.1_Missense_Mutation_p.D90N	p.D294N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	8	1114	+			294					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.880G>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635644	0.87760	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.99	5.99	0.97316	Uracil-DNA glycosylase-like (2);	0.048766	0.85682	D	0.000000	T	0.44973	0.1319	L	0.56769	1.78	0.80722	D	1	B;B;B	0.22746	0.074;0.026;0.026	B;B;B	0.19391	0.014;0.025;0.025	T	0.20907	-1.0261	10	0.33940	T	0.23	-34.0972	20.4777	0.99188	0.0:0.0:1.0:0.0	.	90;294;294	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	N	294;290;151;90	ENSP00000376611:D294N;ENSP00000266775:D290N;ENSP00000445899:D151N;ENSP00000439054:D90N	ENSP00000266775:D290N	D	+	1	0	TDG	102902744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	GAC		0.418	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			39	94	0	0	0	1	0	39	94				
RFX1	5989	broad.mit.edu	37	19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14079442C>T	ENST00000254325.4	-	12	1901	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	556					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1666-1668)gGg>gAg		regulatory factor X, 1 (influences HLA class II expression)							59.0	64.0	62.0					19																	14079442		2203	4298	6501	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14079442C>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1667G>A	19.37:g.14079442C>T	ENSP00000254325:p.Gly556Glu						p.G556E	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		12	1901	-			556						Missense_Mutation	SNP	ENST00000254325.4	37	c.1667G>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650606	0.47362	.	.	ENSG00000132005	ENST00000254325	T	0.59502	0.26	5.33	5.33	0.75918	.	0.419611	0.26855	N	0.022155	T	0.59985	0.2234	M	0.66939	2.045	0.35726	D	0.817566	P	0.47409	0.895	P	0.45232	0.474	T	0.70802	-0.4773	10	0.44086	T	0.13	-34.6237	13.5261	0.61594	0.0:0.843:0.157:0.0	.	556	P22670	RFX1_HUMAN	E	556	ENSP00000254325:G556E	ENSP00000254325:G556E	G	-	2	0	RFX1	13940442	0.955000	0.32602	1.000000	0.80357	0.451000	0.32288	3.131000	0.50515	2.503000	0.84419	0.561000	0.74099	GGG		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		36	64	0	0	0	1	0	36	64				
USP30	84749	broad.mit.edu	37	12	109509480	109509480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109509480C>T	ENST00000257548.5	+	5	637	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP30_ENST00000392784.2_Missense_Mutation_p.R151W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	182	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R173W(1)		endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCGCCAGCCTCGGGTCACACA	0.443																																						ENST00000257548.5																			1	Substitution - Missense(1)	p.R173W(1)	endometrium(1)	endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(544-546)Cgg>Tgg		ubiquitin specific peptidase 30							118.0	99.0	105.0					12																	109509480		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109509480C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.544C>T	12.37:g.109509480C>T	ENSP00000257548:p.Arg182Trp					USP30_ENST00000392784.2_Missense_Mutation_p.R151W	p.R182W	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			5	637	+			182					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.544C>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433985	0.83776	.	.	ENSG00000135093	ENST00000392784;ENST00000257548;ENST00000536723;ENST00000536393	T;T;T;T	0.31769	1.48;1.48;1.48;4.09	5.2	5.2	0.72013	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.241632	0.41194	D	0.000933	T	0.55321	0.1913	M	0.74467	2.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.63703	0.917	T	0.60110	-0.7327	10	0.72032	D	0.01	-34.6044	17.7227	0.88356	0.0:1.0:0.0:0.0	.	182	Q70CQ3	UBP30_HUMAN	W	151;182;151;121	ENSP00000376535:R151W;ENSP00000257548:R182W;ENSP00000443678:R151W;ENSP00000438829:R121W	ENSP00000257548:R182W	R	+	1	2	USP30	107993863	0.996000	0.38824	0.997000	0.53966	0.991000	0.79684	3.391000	0.52530	2.421000	0.82119	0.462000	0.41574	CGG		0.443	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		15	62	0	0	0	1	0	15	62				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999862	112999862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999862C>T	ENST00000271277.6	+	6	1973	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACCCATCCCACCCAAGAAA	0.572																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1747-1749)cCa>cTa		CTTNBP2 N-terminal like							113.0	113.0	113.0					1																	112999862		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999862C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1748C>T	1.37:g.112999862C>T	ENSP00000271277:p.Pro583Leu					CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	p.P583L	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1973	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	583					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1748C>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138700	0.77775	.	.	ENSG00000143079	ENST00000271277	T	0.77620	-1.11	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87269	0.6135	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88232	0.2904	10	0.87932	D	0	-13.5296	19.0842	0.93196	0.0:1.0:0.0:0.0	.	583	Q9P2B4	CT2NL_HUMAN	L	583	ENSP00000271277:P583L	ENSP00000271277:P583L	P	+	2	0	CTTNBP2NL	112801385	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.456000	0.80751	2.608000	0.88229	0.462000	0.41574	CCA		0.572	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		43	31	0	0	0	1	0	43	31				
ETV3L	440695	broad.mit.edu	37	1	157068517	157068517	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157068517G>T	ENST00000454449.2	-	3	751	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	156					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACACCCACGGGCACCAGCGC	0.662																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(466-468)cCc>cAc		ets variant 3-like							32.0	36.0	35.0					1																	157068517		2202	4300	6502	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068517G>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.467C>A	1.37:g.157068517G>T	ENSP00000430271:p.Pro156His						p.P156H	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	751	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	156						Missense_Mutation	SNP	ENST00000454449.2	37	c.467C>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191053	0.38707	.	.	ENSG00000253831	ENST00000454449	T	0.13089	2.62	4.47	4.47	0.54385	.	.	.	.	.	T	0.16981	0.0408	L	0.34521	1.04	0.27881	N	0.93967	D	0.89917	1.0	D	0.71184	0.972	T	0.03025	-1.1081	9	0.59425	D	0.04	.	16.4297	0.83837	0.0:0.0:1.0:0.0	.	156	Q6ZN32	ETV3L_HUMAN	H	156	ENSP00000430271:P156H	ENSP00000430271:P156H	P	-	2	0	ETV3L	155335141	0.994000	0.37717	0.990000	0.47175	0.127000	0.20565	2.962000	0.49176	2.452000	0.82932	0.655000	0.94253	CCC		0.662	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	29	1	0	1.52009e-12	1	1.54038e-12	12	29				
TMED6	146456	broad.mit.edu	37	16	69377544	69377544	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:69377544C>T	ENST00000288025.3	-	4	545		c.e4-1		RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6						transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GTGTGCCGTCCTATGAGAGAG	0.438																																						ENST00000288025.3																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						c.e4-1		transmembrane emp24 protein transport domain containing 6							95.0	92.0	93.0					16																	69377544		2198	4300	6498	SO:0001630	splice_region_variant	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377544C>T	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.490-1G>A	16.37:g.69377544C>T						RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron		NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN			4	545	-								Q6UXN5	Splice_Site	SNP	ENST00000288025.3	37		CCDS10878.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010576	0.35511	.	.	ENSG00000157315	ENST00000288025	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8647	0.96799	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED6	67935045	0.998000	0.40836	0.978000	0.43139	0.041000	0.13682	2.984000	0.49353	2.684000	0.91462	0.561000	0.74099	.		0.438	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676	Intron	36	72	0	0	0	1	0	36	72				
ZNF521	25925	broad.mit.edu	37	18	22804787	22804787	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22804787G>T	ENST00000361524.3	-	4	3243	c.3095C>A	c.(3094-3096)aCc>aAc	p.T1032N	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1032N|ZNF521_ENST00000584787.1_Missense_Mutation_p.T812N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1032					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)					GAGTTCCAAGGTGGAGGTCAC	0.517			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.(3094-3096)aCc>aAc		zinc finger protein 521							84.0	67.0	73.0					18																	22804787		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.chr18:22804787G>T	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.3095C>A	18.37:g.22804787G>T	ENSP00000354794:p.Thr1032Asn					ZNF521_ENST00000584787.1_Missense_Mutation_p.T812N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1032N	p.T1032N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3243	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1032					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3095C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074538	0.36566	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09163	3.01;3.01	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	N	0.24115	0.695	0.49130	D	0.999759	D	0.89917	1.0	D	0.87578	0.998	T	0.04165	-1.0972	10	0.19590	T	0.45	-30.3264	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1032	Q96K83	ZN521_HUMAN	N	1032;1066;1032	ENSP00000354794:T1032N;ENSP00000382352:T1032N	ENSP00000354794:T1032N	T	-	2	0	ZNF521	21058785	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ACC		0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		18	30	1	0	5.03518e-11	1	5.08849e-11	18	30				
OR2D3	120775	broad.mit.edu	37	11	6942440	6942440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6942440C>T	ENST00000317834.3	+	1	236	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	70						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTGGATTCTCGCCTTCACAC	0.428																																						ENST00000317834.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(208-210)Cgc>Tgc		olfactory receptor, family 2, subfamily D, member 3							133.0	128.0	130.0					11																	6942440		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942440C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.208C>T	11.37:g.6942440C>T	ENSP00000320560:p.Arg70Cys						p.R70C	NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	236	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	70					B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.208C>T	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480937	0.26598	.	.	ENSG00000178358	ENST00000317834	T	0.00588	6.37	5.07	-3.95	0.04118	GPCR, rhodopsin-like superfamily (1);	1.163250	0.06667	N	0.765561	T	0.00875	0.0029	M	0.64567	1.98	0.09310	N	1	B	0.13145	0.007	B	0.17098	0.017	T	0.36553	-0.9743	10	0.54805	T	0.06	-0.4064	12.2848	0.54786	0.7483:0.183:0.0:0.0687	.	70	Q8NGH3	OR2D3_HUMAN	C	70	ENSP00000320560:R70C	ENSP00000320560:R70C	R	+	1	0	OR2D3	6899016	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.093000	0.03362	-0.805000	0.04404	-0.899000	0.02877	CGC		0.428	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		30	62	0	0	0	1	0	30	62				
ADAM10	102	broad.mit.edu	37	15	58913713	58913713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:58913713G>A	ENST00000260408.3	-	11	1911	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	ADAM10_ENST00000396140.2_Missense_Mutation_p.P189S|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	490	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTTCCCTCTGGTTGATTTGCA	0.398																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1468-1470)Cca>Tca		ADAM metallopeptidase domain 10							322.0	268.0	286.0					15																	58913713		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58913713G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1468C>T	15.37:g.58913713G>A	ENSP00000260408:p.Pro490Ser					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.P189S	p.P490S	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	11	1911	-			490			Disintegrin.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1468C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	8.180	0.793726	0.16327	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.25414	1.8;3.11	5.61	3.56	0.40772	Blood coagulation inhibitor, Disintegrin (5);	0.142966	0.64402	D	0.000005	T	0.17916	0.0430	L	0.39692	1.235	0.20873	N	0.99984	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.15870	0.004;0.014;0.014	T	0.25710	-1.0124	10	0.06757	T	0.87	-3.3354	11.7562	0.51875	0.0676:0.3525:0.5799:0.0	.	189;309;490	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	S	490;309;189	ENSP00000260408:P490S;ENSP00000379444:P189S	ENSP00000260408:P490S	P	-	1	0	ADAM10	56701005	0.180000	0.23148	0.858000	0.33744	0.980000	0.70556	0.895000	0.28363	1.455000	0.47813	0.609000	0.83330	CCA		0.398	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		69	79	0	0	0	1	0	69	79				
HSPG2	3339	broad.mit.edu	37	1	22201441	22201441	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22201441G>A	ENST00000374695.3	-	26	3436	c.3357C>T	c.(3355-3357)ccC>ccT	p.P1119P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1119	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTTCCAGCGCGGGGTCCTGGC	0.682																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(3355-3357)ccC>ccT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						42.0	38.0	39.0					1																	22201441		2202	4300	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22201441G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3357C>T	1.37:g.22201441G>A							p.P1119P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	26	3436	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1119			Laminin IV type A 2.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.3357C>T	CCDS30625.1																																																																																				0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	11	0	0	0	1	0	4	11				
PPP2R4	5524	broad.mit.edu	37	9	131899914	131899914	+	Silent	SNP	C	C	T	rs150647017	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131899914C>T	ENST00000337738.1	+	9	1101	c.834C>T	c.(832-834)gcC>gcT	p.A278A	PPP2R4_ENST00000524946.2_5'Flank|PPP2R4_ENST00000348141.5_Silent_p.A249A|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000423100.1_5'Flank|PPP2R4_ENST00000432124.1_5'Flank|PPP2R4_ENST00000436883.1_5'Flank|PPP2R4_ENST00000358994.4_Silent_p.A243A|PPP2R4_ENST00000355007.3_Silent_p.A201A|PPP2R4_ENST00000414510.1_5'Flank|PPP2R4_ENST00000393370.2_Silent_p.A243A|PPP2R4_ENST00000357197.4_Silent_p.A214A|PPP2R4_ENST00000435305.1_5'Flank|PPP2R4_ENST00000452489.2_Silent_p.A278A	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	278					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ATGAGAAGGCCGTGAATGAGA	0.557																																					Colon(158;2158 2504 4450 20433)	ENST00000337738.1																			0				breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(832-834)gcC>gcT		protein phosphatase 2A activator, regulatory subunit 4		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	134.0	103.0	114.0		624,729,729,834,603	-10.8	0.2	9	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R4	NM_001193397.1,NM_021131.4,NM_178000.2,NM_178001.2,NM_178003.2	,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,	208/289,243/324,243/324,278/359,201/282	131899914	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5524				ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding	g.chr9:131899914C>T	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.834C>T	9.37:g.131899914C>T						PPP2R4_ENST00000452489.2_Silent_p.A278A|PPP2R4_ENST00000355007.3_Silent_p.A201A|PPP2R4_ENST00000358994.4_Silent_p.A243A|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Silent_p.A243A|PPP2R4_ENST00000348141.5_Silent_p.A249A|PPP2R4_ENST00000357197.4_Silent_p.A214A	p.A278A	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	9	1101	+		Medulloblastoma(224;0.235)	278					A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Silent	SNP	ENST00000337738.1	37	c.834C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.206|8.206	0.799350|0.799350	0.16397|0.16397	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000119383|ENSG00000119383	ENST00000411917|ENST00000455240	.|.	.|.	.|.	5.41|5.41	-10.8|-10.8	0.00216|0.00216	.|.	.|.	.|.	.|.	.|.	T|T	0.41236|0.41236	0.1150|0.1150	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48779|0.48779	-0.9005|-0.9005	4|4	.|.	.|.	.|.	-13.0533|-13.0533	5.0493|5.0493	0.14499|0.14499	0.0676:0.2243:0.275:0.4332|0.0676:0.2243:0.275:0.4332	.|.	.|.	.|.	.|.	L|C	48|57	.|.	.|.	P|R	+|+	2|1	0|0	PPP2R4|PPP2R4	130939735|130939735	0.000000|0.000000	0.05858|0.05858	0.210000|0.210000	0.23637|0.23637	0.911000|0.911000	0.54048|0.54048	-4.041000|-4.041000	0.00307|0.00307	-2.584000|-2.584000	0.00460|0.00460	-2.591000|-2.591000	0.00164|0.00164	CCG|CGT		0.557	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131		12	4	0	0	0	1	0	12	4				
CDH6	1004	broad.mit.edu	37	5	31302366	31302366	+	Silent	SNP	C	C	T	rs148607405	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:31302366C>T	ENST00000265071.2	+	6	1225	c.960C>T	c.(958-960)acC>acT	p.T320T	CDH6_ENST00000514738.1_Silent_p.T265T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGTCATCACCGACCAGGAAA	0.453																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(958-960)acC>acT		cadherin 6, type 2, K-cadherin (fetal kidney)		C		1,4405	2.1+/-5.4	0,1,2202	115.0	109.0	111.0		960	-11.6	0.3	5	dbSNP_134	111	1,8599		0,1,4299	no	coding-synonymous	CDH6	NM_004932.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		320/791	31302366	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31302366C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.960C>T	5.37:g.31302366C>T						CDH6_ENST00000514738.1_Silent_p.T265T	p.T320T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			6	1225	+			320			Cadherin 3.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.960C>T	CCDS3894.1																																																																																				0.453	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		21	42	0	0	0	1	0	21	42				
IFIT5	24138	broad.mit.edu	37	10	91177400	91177400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91177400C>T	ENST00000371795.4	+	2	657	c.444C>T	c.(442-444)ctC>ctT	p.L148L	IFIT5_ENST00000416601.1_Silent_p.L148L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	148					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						GCTGGGCACTCTTGAAATTTG	0.428																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(442-444)ctC>ctT		interferon-induced protein with tetratricopeptide repeats 5							75.0	77.0	76.0					10																	91177400		2203	4300	6503	SO:0001819	synonymous_variant	24138						binding	g.chr10:91177400C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.444C>T	10.37:g.91177400C>T						IFIT5_ENST00000416601.1_Silent_p.L148L	p.L148L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	657	+			148					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	c.444C>T	CCDS7403.1																																																																																				0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		43	55	0	0	0	1	0	43	55				
KAL1	3730	broad.mit.edu	37	X	8503691	8503691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8503691C>T	ENST00000262648.3	-	12	1932	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	595	Fibronectin type-III 4. {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						TGTCTGCTTTCCGTAGTGACC	0.498																																						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.(1783-1785)Gaa>Aaa		Kallmann syndrome 1 sequence							142.0	107.0	119.0					X																	8503691		2203	4298	6501	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:8503691C>T		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.1783G>A	X.37:g.8503691C>T	ENSP00000262648:p.Glu595Lys					KAL1_ENST00000481896.1_5'UTR	p.E595K	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			12	1932	-			595			Fibronectin type-III 4.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1783G>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532806	0.64972	.	.	ENSG00000011201	ENST00000262648	T	0.58506	0.33	4.43	4.43	0.53597	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.47716	1.5	0.50813	D	0.999898	D	0.65815	0.995	D	0.69142	0.962	T	0.68089	-0.5501	10	0.39692	T	0.17	-38.1005	15.3661	0.74523	0.0:1.0:0.0:0.0	.	595	P23352	KALM_HUMAN	K	595	ENSP00000262648:E595K	ENSP00000262648:E595K	E	-	1	0	KAL1	8463691	1.000000	0.71417	0.659000	0.29680	0.360000	0.29518	6.629000	0.74267	1.807000	0.52817	0.600000	0.82982	GAA		0.498	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		29	22	0	0	0	1	0	29	22				
TTC39C	125488	broad.mit.edu	37	18	21649177	21649177	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:21649177C>A	ENST00000317571.3	+	4	638	c.402C>A	c.(400-402)atC>atA	p.I134I	TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Silent_p.I73I	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	134										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GGCAGATAATCATAGCTGACT	0.413																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(400-402)atC>atA		tetratricopeptide repeat domain 39C							99.0	90.0	93.0					18																	21649177		2203	4300	6503	SO:0001819	synonymous_variant	125488						binding	g.chr18:21649177C>A	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.402C>A	18.37:g.21649177C>A						TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Silent_p.I73I	p.I134I	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			4	638	+			134					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Silent	SNP	ENST00000317571.3	37	c.402C>A	CCDS45839.1																																																																																				0.413	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		32	51	1	0	8.69298e-16	1	8.84117e-16	32	51				
PCK1	5105	broad.mit.edu	37	20	56139322	56139322	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:56139322G>A	ENST00000319441.4	+	7	1223	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PCK1_ENST00000535860.1_Silent_p.K221K|PCK1_ENST00000543666.1_Silent_p.K36K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	353					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCATCCAGAAGAACACAATCT	0.527																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1057-1059)aaG>aaA		phosphoenolpyruvate carboxykinase 1 (soluble)							107.0	98.0	101.0					20																	56139322		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139322G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1059G>A	20.37:g.56139322G>A						PCK1_ENST00000535860.1_Silent_p.K221K|PCK1_ENST00000543666.1_Silent_p.K36K	p.K353K	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1223	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		353					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.1059G>A	CCDS13460.1																																																																																				0.527	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			30	42	0	0	0	1	0	30	42				
ZNF737	100129842	broad.mit.edu	37	19	20748444	20748444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20748444C>T	ENST00000427401.4	-	1	97	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF737_ENST00000596797.1_Splice_Site_p.M1I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	1					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCACTCTCACCATTTCTAGGC	0.637																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.e1+1		zinc finger protein 737							50.0	48.0	49.0					19																	20748444		692	1591	2283	SO:0001630	splice_region_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20748444C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.3+1G>A	19.37:g.20748444C>T						CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Splice_Site_p.M1_splice	p.M1_splice	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			1	97	-			1					C9JHM3	Splice_Site	SNP	ENST00000427401.4	37	c.3_splice	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.737318	0.30774	.	.	ENSG00000237440	ENST00000427401	T	0.05649	3.41	0.1	0.1	0.14510	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.80722	D	1	B	0.24043	0.096	B	0.27608	0.081	T	0.44081	-0.9351	6	.	.	.	.	.	.	.	.	1	C9JHM3	.	I	1	ENSP00000395733:M1I	.	M	-	3	0	ZNF737	20540284	0.085000	0.21516	0.047000	0.18901	0.047000	0.14425	0.189000	0.17037	0.170000	0.19704	0.173000	0.16961	ATG		0.637	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289	Missense_Mutation	26	61	0	0	0	1	0	26	61				
FOLH1B	219595	broad.mit.edu	37	11	89431691	89431691	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89431691G>A	ENST00000532352.1	+	0	1973							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGGCCTGGGGAGATGTGAAG	0.473																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							146.0	138.0	141.0					11																	89431691		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89431691G>A	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431691G>A										Q9HBA9	FOH1B_HUMAN			0	1973	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.473	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		43	79	0	0	0	1	0	43	79				
C14orf79	122616	broad.mit.edu	37	14	105452938	105452938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452938C>T	ENST00000547315.1	+	1	809	c.170C>T	c.(169-171)cCc>cTc	p.P57L	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATCTCCATGCCCCGTGAGGGC	0.602																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(169-171)cCc>cTc		chromosome 14 open reading frame 79							69.0	80.0	76.0					14																	105452938		2062	4197	6259	SO:0001583	missense	122616							g.chr14:105452938C>T		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.170C>T	14.37:g.105452938C>T	ENSP00000450114:p.Pro57Leu						p.P57L	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	809	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	57					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.170C>T	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568731	0.13560	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.3	-0.0716	0.13742	.	.	.	.	.	T	0.12347	0.0300	N	0.04508	-0.205	0.09310	N	0.999998	B	0.14805	0.011	B	0.08055	0.003	T	0.30909	-0.9962	8	0.08381	T	0.77	1.3446	3.6061	0.08043	0.0:0.4534:0.2606:0.286	.	57	Q96F83	CN079_HUMAN	L	57	.	ENSP00000374614:P57L	P	+	2	0	C14orf79	104523983	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.529000	0.02223	-0.332000	0.08489	0.486000	0.48141	CCC		0.602	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		26	51	0	0	0	1	0	26	51				
PLA2G3	50487	broad.mit.edu	37	22	31536191	31536191	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:31536191C>T	ENST00000215885.3	-	1	402	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	50					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTGAGCATCCTTGGCCAGGA	0.662																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(148-150)aaG>aaA		phospholipase A2, group III							68.0	71.0	70.0					22																	31536191		2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31536191C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.150G>A	22.37:g.31536191C>T							p.K50K	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	402	-			50					O95768	Silent	SNP	ENST00000215885.3	37	c.150G>A	CCDS13889.1																																																																																				0.662	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		29	75	0	0	0	1	0	29	75				
PRSS36	146547	broad.mit.edu	37	16	31157264	31157264	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157264A>T	ENST00000268281.4	-	6	624	c.566T>A	c.(565-567)cTc>cAc	p.L189H	PRSS36_ENST00000569305.1_Missense_Mutation_p.L189H|PRSS36_ENST00000418068.2_Missense_Mutation_p.L189H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	189	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCCAGGGGAGAGGCAGAGG	0.602																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(565-567)cTc>cAc		protease, serine, 36							37.0	35.0	36.0					16																	31157264		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157264A>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.566T>A	16.37:g.31157264A>T	ENSP00000268281:p.Leu189His					PRSS36_ENST00000569305.1_Missense_Mutation_p.L189H|PRSS36_ENST00000418068.2_Missense_Mutation_p.L189H	p.L189H	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	624	-			189			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.566T>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483839	0.26598	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89123	-2.47;-2.47	5.04	1.03	0.20045	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.86598	0.5971	L	0.39566	1.225	0.09310	N	0.999997	D;D;D	0.63046	0.975;0.992;0.992	P;P;P	0.59889	0.65;0.865;0.865	T	0.74797	-0.3543	9	0.13853	T	0.58	.	3.9372	0.09311	0.3784:0.3819:0.2397:0.0	.	189;189;189	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	H	189	ENSP00000268281:L189H;ENSP00000407160:L189H	ENSP00000268281:L189H	L	-	2	0	PRSS36	31064765	0.003000	0.15002	0.985000	0.45067	0.805000	0.45488	0.639000	0.24690	0.336000	0.23639	0.402000	0.26972	CTC		0.602	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		18	14	0	0	0	1	0	18	14				
EPPK1	83481	broad.mit.edu	37	8	144940490	144940490	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144940490G>A	ENST00000525985.1	-	2	7003	c.6932C>T	c.(6931-6933)aCc>aTc	p.T2311I				P58107	EPIPL_HUMAN	epiplakin 1	2311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGGGGTCGGTGTAGCCGGT	0.697																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6931-6933)aCc>aTc		epiplakin 1							166.0	164.0	165.0					8																	144940490		2181	4265	6446	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940490G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6932C>T	8.37:g.144940490G>A	ENSP00000436337:p.Thr2311Ile						p.T2311I			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7003	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2311					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6932C>T		.	.	.	.	.	.	.	.	.	.	G	19.57	3.853055	0.71719	.	.	ENSG00000227184	ENST00000525985	T	0.68479	-0.33	4.63	3.71	0.42584	.	.	.	.	.	T	0.72260	0.3438	L	0.43152	1.355	0.28540	N	0.912163	D	0.57257	0.979	D	0.66979	0.948	T	0.61662	-0.7017	9	0.21014	T	0.42	.	12.6615	0.56815	0.0:0.1665:0.8335:0.0	.	2311	E9PPU0	.	I	2311	ENSP00000436337:T2311I	ENSP00000436337:T2311I	T	-	2	0	EPPK1	145012478	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.367000	0.07553	2.416000	0.81992	0.586000	0.80456	ACC		0.697	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	353	0	0	0	1	0	19	353				
NSD1	64324	broad.mit.edu	37	5	176636701	176636701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176636701C>T	ENST00000439151.2	+	5	1346	c.1301C>T	c.(1300-1302)cCc>cTc	p.P434L	NSD1_ENST00000361032.4_Missense_Mutation_p.P331L|NSD1_ENST00000347982.4_Missense_Mutation_p.P165L|NSD1_ENST00000354179.4_Missense_Mutation_p.P165L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	434					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATGATGTTCCCAAGGGGTCA	0.378			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(1300-1302)cCc>cTc		nuclear receptor binding SET domain protein 1							84.0	80.0	82.0					5																	176636701		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176636701C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1301C>T	5.37:g.176636701C>T	ENSP00000395929:p.Pro434Leu	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.P165L|NSD1_ENST00000361032.4_Missense_Mutation_p.P331L|NSD1_ENST00000354179.4_Missense_Mutation_p.P165L	p.P434L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1346	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	434					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1301C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351786	0.24512	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92858	-3.0;-3.01;-3.0;-3.12	5.32	5.32	0.75619	.	0.101938	0.44285	D	0.000466	D	0.83585	0.5286	L	0.27053	0.805	0.45366	D	0.998356	B;B;B	0.31931	0.347;0.095;0.188	B;B;B	0.26416	0.069;0.051;0.039	T	0.79834	-0.1636	9	.	.	.	.	8.6075	0.33782	0.0:0.8639:0.0:0.1361	.	165;331;434	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	L	165;165;434;165;331	ENSP00000346111:P165L;ENSP00000395929:P434L;ENSP00000343209:P165L;ENSP00000354310:P331L	.	P	+	2	0	NSD1	176569307	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.307000	0.51888	2.485000	0.83878	0.591000	0.81541	CCC		0.378	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	38	0	0	0	1	0	25	38				
MAST3	23031	broad.mit.edu	37	19	18232672	18232672	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18232672C>T	ENST00000262811.6	+	4	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	58							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCAGCAGCCCCTTGGATAGT	0.637																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(172-174)cCc>cTc		microtubule associated serine/threonine kinase 3							51.0	59.0	56.0					19																	18232672		2110	4252	6362	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18232672C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.173C>T	19.37:g.18232672C>T	ENSP00000262811:p.Pro58Leu						p.P58L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			4	173	+			58					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.173C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662484	0.88251	.	.	ENSG00000099308	ENST00000262811	T	0.52754	0.65	4.46	4.46	0.54185	Microtubule-associated serine/threonine-protein kinase, domain (1);	.	.	.	.	T	0.73768	0.3629	M	0.90977	3.165	0.80722	D	1	P	0.49961	0.93	D	0.63877	0.919	T	0.81193	-0.1044	9	0.87932	D	0	-22.2522	16.287	0.82725	0.0:1.0:0.0:0.0	.	58	O60307	MAST3_HUMAN	L	58	ENSP00000262811:P58L	ENSP00000262811:P58L	P	+	2	0	MAST3	18093672	0.998000	0.40836	0.996000	0.52242	0.887000	0.51463	5.469000	0.66749	2.307000	0.77673	0.491000	0.48974	CCC		0.637	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		22	31	0	0	0	1	0	22	31				
NLRP13	126204	broad.mit.edu	37	19	56423611	56423611	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56423611C>T	ENST00000342929.3	-	5	1571	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	NLRP13_ENST00000588751.1_Silent_p.K524K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	524	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.K524N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGTCATTGATCTTTTGAAGAA	0.438																																						ENST00000588751.1																			1	Substitution - Missense(1)	p.K524N(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(1570-1572)aaG>aaA		NLR family, pyrin domain containing 13							70.0	73.0	72.0					19																	56423611		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423611C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1572G>A	19.37:g.56423611C>T						NLRP13_ENST00000342929.3_Silent_p.K524K	p.K524K			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1596	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	524			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1572G>A	CCDS33119.1																																																																																				0.438	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		29	44	0	0	0	1	0	29	44				
OR11G2	390439	broad.mit.edu	37	14	20665863	20665863	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20665863C>T	ENST00000357366.3	+	1	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGGCCAACTTCCTCTCTGACA	0.502																																						ENST00000357366.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(367-369)ttC>ttT		olfactory receptor, family 11, subfamily G, member 2							80.0	68.0	72.0					14																	20665863		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665863C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.369C>T	14.37:g.20665863C>T							p.F123F	NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	369	+	all_cancers(95;0.00108)		123					Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.369C>T	CCDS32032.1																																																																																				0.502	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			14	19	0	0	0	1	0	14	19				
TMUB2	79089	broad.mit.edu	37	17	42268212	42268212	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42268212T>A	ENST00000587989.1	+	4	1099	c.946T>A	c.(946-948)Ttt>Att	p.F316I	TMUB2_ENST00000446571.3_Missense_Mutation_p.F259I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000319511.6_Missense_Mutation_p.F296I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.F316I|TMUB2_ENST00000357984.3_Missense_Mutation_p.F296I|TMUB2_ENST00000589785.1_Missense_Mutation_p.F296I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	316						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTCCTAGTATTTGGGATGTA	0.517																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(886-888)Ttt>Att		transmembrane and ubiquitin-like domain containing 2							122.0	119.0	120.0					17																	42268212		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268212T>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.946T>A	17.37:g.42268212T>A	ENSP00000466971:p.Phe316Ile					TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.F316I|TMUB2_ENST00000538716.2_Missense_Mutation_p.F316I|TMUB2_ENST00000589785.1_Missense_Mutation_p.F296I|TMUB2_ENST00000446571.3_Missense_Mutation_p.F259I|TMUB2_ENST00000357984.3_Missense_Mutation_p.F296I	p.F296I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1536	+		Breast(137;0.00765)|Prostate(33;0.0181)	316					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.886T>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061535	0.93846	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.54866	0.62;0.58;0.55;0.58	5.41	5.41	0.78517	.	0.050479	0.85682	D	0.000000	T	0.68787	0.3039	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.994	T	0.71517	-0.4569	10	0.72032	D	0.01	-13.8254	14.5526	0.68078	0.0:0.0:0.0:1.0	.	259;296;316	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	I	259;296;316;296	ENSP00000413127:F259I;ENSP00000350672:F296I;ENSP00000444565:F316I;ENSP00000313214:F296I	ENSP00000313214:F296I	F	+	1	0	TMUB2	39623738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.276000	0.75962	0.454000	0.30748	TTT		0.517	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		53	82	0	0	0	1	0	53	82				
ARHGEF16	27237	broad.mit.edu	37	1	3386050	3386050	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3386050C>T	ENST00000378378.4	+	6	1320	c.915C>T	c.(913-915)atC>atT	p.I305I	ARHGEF16_ENST00000378371.2_Silent_p.I17I|ARHGEF16_ENST00000413250.2_5'Flank|ARHGEF16_ENST00000378373.1_Silent_p.I17I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	305	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCCTGAGCATCCTGGTGGAGG	0.622																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(913-915)atC>atT		Rho guanine nucleotide exchange factor (GEF) 16							180.0	130.0	147.0					1																	3386050		2203	4300	6503	SO:0001819	synonymous_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3386050C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.915C>T	1.37:g.3386050C>T						ARHGEF16_ENST00000378371.2_Silent_p.I17I|ARHGEF16_ENST00000378373.1_Silent_p.I17I	p.I305I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	6	1320	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	305			DH.|Required for RHOG activation and mediates interaction with EPHA2.		Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	c.915C>T	CCDS46.2																																																																																				0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		31	29	0	0	0	1	0	31	29				
ZFAND1	79752	broad.mit.edu	37	8	82627224	82627224	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82627224C>T	ENST00000220669.5	-	4	282	c.264G>A	c.(262-264)ctG>ctA	p.L88L	ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.L88L|ZFAND1_ENST00000523096.1_Silent_p.L88L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	88							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCAATCACCTCAGGCAAAAAT	0.393																																						ENST00000220669.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(262-264)ctG>ctA		zinc finger, AN1-type domain 1							131.0	119.0	123.0					8																	82627224		2203	4300	6503	SO:0001819	synonymous_variant	79752						zinc ion binding	g.chr8:82627224C>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.264G>A	8.37:g.82627224C>T						ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.L88L|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.L88L|ZFAND1_ENST00000521287.1_5'UTR	p.L88L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN			4	282	-			88					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Silent	SNP	ENST00000220669.5	37	c.264G>A	CCDS6232.1																																																																																				0.393	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699		34	53	0	0	0	1	0	34	53				
ZNF626	199777	broad.mit.edu	37	19	20808016	20808016	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20808016G>A	ENST00000601440.1	-	4	813	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCCAGTATGAATTTTCTTA	0.388																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(667-669)Cat>Tat		zinc finger protein 626							49.0	52.0	51.0					19																	20808016		2148	4273	6421	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808016G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.667C>T	19.37:g.20808016G>A	ENSP00000469958:p.His223Tyr					CTC-513N18.7_ENST00000595094.1_lincRNA	p.H223Y	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	813	-			223					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.667C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	11.13	1.548091	0.27652	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68449	0.3002	M	0.90705	3.14	0.80722	D	1	B	0.29909	0.261	B	0.38842	0.283	T	0.65957	-0.6042	8	0.56958	D	0.05	.	6.9412	0.24494	1.0E-4:0.0:0.9999:0.0	.	223	Q68DY1	ZN626_HUMAN	Y	223;147;223	.	ENSP00000445201:H223Y	H	-	1	0	ZNF626	20599856	1.000000	0.71417	0.428000	0.26697	0.426000	0.31534	6.134000	0.71689	0.162000	0.19483	0.165000	0.16767	CAT		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		20	27	0	0	0	1	0	20	27				
VCX3B	425054	broad.mit.edu	37	X	8434164	8434164	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434164G>A	ENST00000381032.1	+	3	788	c.481G>A	c.(481-483)Gag>Aag	p.E161K	VCX3B_ENST00000444481.1_Missense_Mutation_p.E131K|VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000453306.1_Missense_Mutation_p.E161K|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	161	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAGGAACCACT	0.587																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(481-483)Gag>Aag		variable charge, X-linked 3B							21.0	65.0	52.0					X																	8434164		1469	3801	5270	SO:0001583	missense	425054					nucleolus		g.chrX:8434164G>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.481G>A	X.37:g.8434164G>A	ENSP00000370420:p.Glu161Lys					VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.E131K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E161K|VCX3B_ENST00000440654.2_Intron	p.E161K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	788	+			161			11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.481G>A	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	G	7.044	0.563133	0.13498	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481	T;T;T	0.29655	1.56;1.56;2.12	0.693	0.693	0.18056	.	.	.	.	.	T	0.18087	0.0434	L	0.34521	1.04	0.26157	N	0.980051	P	0.41041	0.736	B	0.31614	0.133	T	0.14062	-1.0486	9	0.87932	D	0	.	7.2309	0.26043	1.0E-4:0.0:0.9999:0.0	.	131	Q9H321	VCX3B_HUMAN	K	161;161;131	ENSP00000370420:E161K;ENSP00000411785:E161K;ENSP00000414780:E131K	ENSP00000370420:E161K	E	+	1	0	VCX3B	8394164	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	1.500000	0.35682	0.671000	0.31185	0.498000	0.49722	GAG		0.587	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			45	346	0	0	0	1	0	45	346				
WNT7A	7476	broad.mit.edu	37	3	13916522	13916522	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13916522G>T	ENST00000285018.4	-	2	524	c.220C>A	c.(220-222)Cag>Aag	p.Q74K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	74					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGAAACTGACACTCGTCC	0.612																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(220-222)Cag>Aag		wingless-type MMTV integration site family, member 7A							62.0	55.0	58.0					3																	13916522		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916522G>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.220C>A	3.37:g.13916522G>T	ENSP00000285018:p.Gln74Lys					WNT7A_ENST00000497808.1_5'UTR	p.Q74K	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			2	524	-			74					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.220C>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	g	35	5.418002	0.96092	.	.	ENSG00000154764	ENST00000285018	T	0.76968	-1.06	5.31	5.31	0.75309	.	0.068751	0.64402	D	0.000010	T	0.81403	0.4815	L	0.60845	1.875	0.80722	D	1	P	0.36354	0.549	P	0.45232	0.474	T	0.80964	-0.1147	10	0.46703	T	0.11	.	18.9939	0.92804	0.0:0.0:1.0:0.0	.	74	O00755	WNT7A_HUMAN	K	74	ENSP00000285018:Q74K	ENSP00000285018:Q74K	Q	-	1	0	WNT7A	13891523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.765000	0.98953	2.481000	0.83766	0.651000	0.88453	CAG		0.612	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		25	42	1	0	1.42536e-11	1	1.44175e-11	25	42				
PLEKHM1	9842	broad.mit.edu	37	17	43522844	43522844	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:43522844G>A	ENST00000430334.3	-	9	2962	c.2829C>T	c.(2827-2829)ctC>ctT	p.L943L	PLEKHM1_ENST00000421073.2_Silent_p.L854L|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	943					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACCTCTTGCTGAGCTCCTTCA	0.557																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(2827-2829)ctC>ctT		pleckstrin homology domain containing, family M (with RUN domain) member 1							28.0	25.0	26.0					17																	43522844		2200	4292	6492	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43522844G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2829C>T	17.37:g.43522844G>A						PLEKHM1_ENST00000421073.2_Silent_p.L854L|PLEKHM1_ENST00000580404.1_5'UTR	p.L943L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			9	2962	-	Renal(3;0.0405)		943					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.2829C>T	CCDS32671.1																																																																																				0.557	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		15	23	0	0	0	1	0	15	23				
SIN3A	25942	broad.mit.edu	37	15	75693073	75693073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75693073C>T	ENST00000394947.3	-	11	2049	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	SIN3A_ENST00000394949.4_Missense_Mutation_p.E579K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E579K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGCCTTACCTCTTTACAGAGA	0.463																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(1735-1737)Gag>Aag		SIN3 transcription regulator family member A							65.0	57.0	59.0					15																	75693073		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75693073C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1735G>A	15.37:g.75693073C>T	ENSP00000378402:p.Glu579Lys					SIN3A_ENST00000360439.4_Missense_Mutation_p.E579K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E579K	p.E579K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			11	2049	-			579			Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.			Missense_Mutation	SNP	ENST00000394947.3	37	c.1735G>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937011	0.92458	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50548	0.74;0.74;0.74	5.64	5.64	0.86602	Histone deacetylase interacting (2);	0.044861	0.85682	D	0.000000	T	0.53786	0.1818	M	0.62154	1.92	0.80722	D	1	P	0.39782	0.688	B	0.42692	0.395	T	0.54410	-0.8298	10	0.48119	T	0.1	-29.6524	18.7029	0.91627	0.0:1.0:0.0:0.0	.	579	Q96ST3	SIN3A_HUMAN	K	579	ENSP00000378402:E579K;ENSP00000378403:E579K;ENSP00000353622:E579K	ENSP00000353622:E579K	E	-	1	0	SIN3A	73480126	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.817000	0.86213	2.656000	0.90262	0.460000	0.39030	GAG		0.463	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		9	14	0	0	0	1	0	9	14				
SBSPON	157869	broad.mit.edu	37	8	73979610	73979610	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73979610G>A	ENST00000297354.6	-	5	965	c.761C>T	c.(760-762)tCt>tTt	p.S254F	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	254					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S249C(1)									AGCTGGACAAGAACACTGGTC	0.353																																						ENST00000297354.6																			1	Substitution - Missense(1)	p.S249C(1)	lung(1)								c.(760-762)tCt>tTt		somatomedin B and thrombospondin, type 1 domain containing							92.0	87.0	89.0					8																	73979610		1829	4082	5911	SO:0001583	missense	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73979610G>A		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.761C>T	8.37:g.73979610G>A	ENSP00000297354:p.Ser254Phe					SBSPON_ENST00000519697.1_5'UTR	p.S254F	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN			5	965	-			254					A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	c.761C>T	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193105	0.78902	.	.	ENSG00000164764	ENST00000297354	T	0.26957	1.7	5.79	5.79	0.91817	.	0.381500	0.30565	N	0.009358	T	0.53270	0.1786	M	0.73962	2.25	0.50813	D	0.999894	D	0.76494	0.999	D	0.67548	0.952	T	0.53655	-0.8408	10	0.72032	D	0.01	-8.6861	19.6818	0.95967	0.0:0.0:1.0:0.0	.	254	Q8IVN8	RPESP_HUMAN	F	254	ENSP00000297354:S254F	ENSP00000297354:S254F	S	-	2	0	C8orf84	74142164	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.417000	0.73337	2.740000	0.93945	0.644000	0.83932	TCT		0.353	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225		18	34	0	0	0	1	0	18	34				
HSPG2	3339	broad.mit.edu	37	1	22178595	22178595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22178595G>A	ENST00000374695.3	-	53	6935	c.6856C>T	c.(6856-6858)Cct>Tct	p.P2286S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2286	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCCGGGCAGGGAGGCTGCCC	0.667																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(6856-6858)Cct>Tct		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						47.0	47.0	47.0					1																	22178595		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178595G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6856C>T	1.37:g.22178595G>A	ENSP00000363827:p.Pro2286Ser					HSPG2_ENST00000430507.1_3'UTR	p.P2286S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	53	6935	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2286			Ig-like C2-type 8.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.6856C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956578	0.53293	.	.	ENSG00000142798	ENST00000374695	T	0.64991	-0.13	5.34	5.34	0.76211	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38217	N	0.001762	T	0.67702	0.2921	L	0.39020	1.185	0.39327	D	0.965345	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66468	-0.5916	10	0.33940	T	0.23	.	10.0475	0.42195	0.0917:0.0:0.9083:0.0	.	226;2286	Q59EG0;P98160	.;PGBM_HUMAN	S	2286	ENSP00000363827:P2286S	ENSP00000363827:P2286S	P	-	1	0	HSPG2	22051182	0.999000	0.42202	0.983000	0.44433	0.701000	0.40568	4.834000	0.62774	2.504000	0.84457	0.561000	0.74099	CCT		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	47	0	0	0	1	0	16	47				
FMN2	56776	broad.mit.edu	37	1	240371745	240371745	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371745C>T	ENST00000319653.9	+	5	3863	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACCTCCTCCCTTGCCAGGTA	0.642																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3631-3633)ccC>ccT		formin 2							21.0	21.0	21.0					1																	240371745		2202	4300	6502	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371745C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3633C>T	1.37:g.240371745C>T							p.P1211P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3863	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1211			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3633C>T	CCDS31069.2																																																																																				0.642	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	3	0	0	0	1	0	5	3				
ZSWIM3	140831	broad.mit.edu	37	20	44505937	44505937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:44505937G>A	ENST00000255152.2	+	2	949	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R241Q	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	247							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CGAGAAAGTCGAGTGGTGCAC	0.532																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(739-741)cGa>cAa		zinc finger, SWIM-type containing 3							74.0	71.0	72.0					20																	44505937		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505937G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.740G>A	20.37:g.44505937G>A	ENSP00000255152:p.Arg247Gln					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R241Q	p.R247Q	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	949	+		Myeloproliferative disorder(115;0.0122)	247					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.740G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804127	0.70682	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.28895	1.59;1.59	5.49	5.49	0.81192	MULE transposase domain (1);	0.092032	0.46442	D	0.000298	T	0.38214	0.1032	L	0.48642	1.525	0.28951	N	0.890388	D;D	0.89917	1.0;0.999	D;D	0.68353	0.957;0.937	T	0.27226	-1.0080	10	0.02654	T	1	-10.8571	9.183	0.37154	0.1915:0.0:0.8085:0.0	.	241;247	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	Q	247;241	ENSP00000255152:R247Q;ENSP00000406313:R241Q	ENSP00000255152:R247Q	R	+	2	0	ZSWIM3	43939344	0.988000	0.35896	0.994000	0.49952	0.988000	0.76386	2.633000	0.46519	2.865000	0.98341	0.655000	0.94253	CGA		0.532	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		34	49	0	0	0	1	0	34	49				
SP100	6672	broad.mit.edu	37	2	231380099	231380099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380099C>T	ENST00000264052.5	+	25	2739	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	795					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTGGCCTGTCCATTGATGAT	0.463																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2383-2385)tCc>tTc		SP100 nuclear antigen							60.0	63.0	62.0					2																	231380099		2202	4300	6502	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380099C>T	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2384C>T	2.37:g.231380099C>T	ENSP00000264052:p.Ser795Phe					SP100_ENST00000340126.4_Intron	p.S795F	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2739	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	795					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.2384C>T	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147910	0.57151	.	.	ENSG00000067066	ENST00000264052	D	0.98192	-4.78	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.98782	0.9590	H	0.95679	3.705	0.80722	D	1	D	0.54397	0.966	P	0.61533	0.89	D	0.97927	1.0318	9	0.87932	D	0	.	6.0348	0.19702	0.0:0.9995:0.0:5.0E-4	.	795	P23497	SP100_HUMAN	F	795	ENSP00000264052:S795F	ENSP00000264052:S795F	S	+	2	0	SP100	231088343	1.000000	0.71417	0.387000	0.26183	0.388000	0.30384	5.264000	0.65513	0.202000	0.20498	0.205000	0.17691	TCC		0.463	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		23	22	0	0	0	1	0	23	22				
PNPLA7	375775	broad.mit.edu	37	9	140391671	140391671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391671C>T	ENST00000277531.4	-	17	2092	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	PNPLA7_ENST00000406427.1_Missense_Mutation_p.G661R|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242R	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGTACTCCCCGGCCAGGCGC	0.667																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1981-1983)Ggg>Agg		patatin-like phospholipase domain containing 7							30.0	30.0	30.0					9																	140391671		2194	4292	6486	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140391671C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1906G>A	9.37:g.140391671C>T	ENSP00000277531:p.Gly636Arg					PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636R|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242R	p.G661R	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2317	-	all_cancers(76;0.126)		636					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1981G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876933	0.72180	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.53	3.61	0.41365	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.057170	0.64402	D	0.000001	D	0.93621	0.7963	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	D	0.93763	0.7068	10	0.87932	D	0	-22.7636	13.12	0.59321	0.1616:0.8384:0.0:0.0	.	661;636	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	R	242;636;661;636;627	ENSP00000360512:G242R;ENSP00000277531:G636R;ENSP00000384610:G661R;ENSP00000400582:G627R	ENSP00000277531:G636R	G	-	1	0	PNPLA7	139511492	0.997000	0.39634	0.786000	0.31890	0.452000	0.32318	4.572000	0.60886	1.008000	0.39264	0.462000	0.41574	GGG		0.667	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		8	7	0	0	0	1	0	8	7				
CYP11A1	1583	broad.mit.edu	37	15	74631110	74631110	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74631110C>T	ENST00000268053.6	-	8	1391		c.e8-1		CYP11A1_ENST00000358632.4_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCACCAGTGTCTGGGGCAAGG	0.582																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e8-1		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						59.0	58.0	58.0					15																	74631110		2197	4297	6494	SO:0001630	splice_region_variant	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74631110C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1237-1G>A	15.37:g.74631110C>T						CYP11A1_ENST00000419019.2_Splice_Site|CYP11A1_ENST00000268053.6_Splice_Site		NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			8	1458	-								A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Splice_Site	SNP	ENST00000268053.6	37		CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111819	0.56398	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2052	0.89852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP11A1	72418163	1.000000	0.71417	0.896000	0.35187	0.567000	0.35839	7.235000	0.78143	2.393000	0.81446	0.549000	0.68633	.		0.582	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1		Intron	16	22	0	0	0	1	0	16	22				
FYCO1	79443	broad.mit.edu	37	3	46008175	46008175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008175G>A	ENST00000296137.2	-	8	2856	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	FYCO1_ENST00000535325.1_Missense_Mutation_p.S884F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCTTCCTCGGAGCTGCATTT	0.657																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2650-2652)tCc>tTc		FYVE and coiled-coil domain containing 1							31.0	29.0	30.0					3																	46008175		2203	4299	6502	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008175G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2651C>T	3.37:g.46008175G>A	ENSP00000296137:p.Ser884Phe					FYCO1_ENST00000535325.1_Missense_Mutation_p.S884F	p.S884F	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2856	-			884					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.2651C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395223	0.04899	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.77620	-1.11;-1.11	5.51	5.51	0.81932	.	0.411593	0.27927	N	0.017291	T	0.67411	0.2890	L	0.57536	1.79	0.09310	N	1	P;P	0.47302	0.893;0.554	B;B	0.38616	0.277;0.192	T	0.61004	-0.7150	10	0.10377	T	0.69	-13.8608	8.4988	0.33146	0.1308:0.0:0.8692:0.0	.	884;884	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	F	884	ENSP00000296137:S884F;ENSP00000441178:S884F	ENSP00000296137:S884F	S	-	2	0	FYCO1	45983179	0.873000	0.30073	0.274000	0.24659	0.102000	0.19082	4.584000	0.60971	2.595000	0.87683	0.655000	0.94253	TCC		0.657	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		11	23	0	0	0	1	0	11	23				
IDUA	3425	broad.mit.edu	37	4	981721	981721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981721G>A	ENST00000247933.4	+	2	371	c.283G>A	c.(283-285)Gag>Aag	p.E95K	IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	95					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)			CTGGCTGCTGGAGCTTGTCAC	0.677																																						ENST00000247933.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(283-285)Gag>Aag		iduronidase, alpha-L-	Laronidase(DB00090)						23.0	18.0	20.0					4																	981721		2179	4280	6459	SO:0001583	missense	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:981721G>A	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.283G>A	4.37:g.981721G>A	ENSP00000247933:p.Glu95Lys					IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron	p.E95K	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		2	371	+			95					B3KWK6	Missense_Mutation	SNP	ENST00000247933.4	37	c.283G>A	CCDS3343.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052967	0.75960	.	.	ENSG00000127415	ENST00000247933	D	0.94417	-3.42	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.224065	0.37577	N	0.002035	D	0.93818	0.8023	M	0.64404	1.975	0.80722	D	1	P	0.45283	0.855	P	0.46825	0.528	D	0.93827	0.7124	10	0.62326	D	0.03	.	12.5332	0.56128	0.0:0.0:1.0:0.0	.	95	P35475	IDUA_HUMAN	K	95	ENSP00000247933:E95K	ENSP00000247933:E95K	E	+	1	0	IDUA	971721	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	7.703000	0.84585	1.509000	0.48786	0.462000	0.41574	GAG		0.677	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		3	11	0	0	0	1	0	3	11				
NFKBIZ	64332	broad.mit.edu	37	3	101571959	101571959	+	Missense_Mutation	SNP	G	G	A	rs201726156		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571959G>A	ENST00000326172.5	+	5	704	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197R|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ACCAACGCCCGGGGAGAGCAT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19932	0.001		0.0	False		,,,				2504	0.0					ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(589-591)Ggg>Agg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							77.0	83.0	81.0					3																	101571959		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101571959G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.589G>A	3.37:g.101571959G>A	ENSP00000325663:p.Gly197Arg					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97R|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197R	p.G197R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	704	+			197					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.589G>A	CCDS2946.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.916	1.210916	0.22289	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.52983	0.68;0.64;0.67;0.71	5.6	5.6	0.85130	.	0.760357	0.12487	N	0.464620	T	0.27731	0.0682	N	0.14661	0.345	0.09310	N	1	P;P	0.42123	0.771;0.643	B;B	0.35114	0.196;0.098	T	0.08659	-1.0711	10	0.49607	T	0.09	-10.0856	7.3152	0.26498	0.202:0.0:0.798:0.0	.	197;197	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	R	97;97;197;197;97	ENSP00000419800:G97R;ENSP00000377618:G97R;ENSP00000325593:G197R;ENSP00000325663:G197R	ENSP00000325593:G197R	G	+	1	0	NFKBIZ	103054649	0.045000	0.20229	0.010000	0.14722	0.668000	0.39293	2.459000	0.45023	2.636000	0.89361	0.655000	0.94253	GGG		0.438	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		30	49	0	0	0	1	0	30	49				
CATSPERD	257062	broad.mit.edu	37	19	5749141	5749141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:5749141G>A	ENST00000381624.3	+	11	995	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	312					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TATAACTCGGGAGGATAATTT	0.403																																						ENST00000381624.3																			0											c.(934-936)Gag>Aag		catsper channel auxiliary subunit delta							84.0	83.0	83.0					19																	5749141		1858	4108	5966	SO:0001583	missense	257062					integral to membrane		g.chr19:5749141G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.934G>A	19.37:g.5749141G>A	ENSP00000371037:p.Glu312Lys					CATSPERD_ENST00000381614.2_5'UTR	p.E312K	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			11	995	+			312					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.934G>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	14.60	2.584759	0.46110	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.27256	1.68	3.26	-0.66	0.11421	.	0.512242	0.14478	U	0.317129	T	0.24470	0.0593	L	0.52573	1.65	0.19575	N	0.999964	B	0.33171	0.4	B	0.36808	0.233	T	0.24977	-1.0145	10	0.66056	D	0.02	-7.8531	10.7122	0.45990	0.0:0.5897:0.4103:0.0	.	312	Q86XM0	TM146_HUMAN	K	238;312	ENSP00000371037:E312K	ENSP00000371037:E312K	E	+	1	0	TMEM146	5700141	0.000000	0.05858	0.001000	0.08648	0.106000	0.19336	-0.008000	0.12788	0.004000	0.14682	0.447000	0.29281	GAG		0.403	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		23	12	0	0	0	1	0	23	12				
CRAMP1L	57585	broad.mit.edu	37	16	1716089	1716089	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716089G>A	ENST00000397412.3	+	15	2867	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R920Q|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R923Q|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R301Q			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GGTTCGTTCCGGCCCATCCAG	0.627																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2767-2769)cGg>cAg		Crm, cramped-like (Drosophila)							31.0	37.0	35.0					16																	1716089		2018	4164	6182	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1716089G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2768G>A	16.37:g.1716089G>A	ENSP00000380559:p.Arg923Gln					CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R920Q|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R923Q|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R301Q|LA16c-431H6.6_ENST00000454337.1_3'UTR	p.R923Q			Q96RY5	CRML_HUMAN			15	2867	+			923					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2768G>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	35	5.471138	0.96274	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	L	0.36672	1.1	0.53005	D	0.999961	D	0.89917	1.0	D	0.83275	0.996	T	0.69800	-0.5047	9	0.56958	D	0.05	-41.0539	17.4691	0.87641	0.0:0.0:1.0:0.0	.	923	Q96RY5	CRML_HUMAN	Q	923;923;920;301	.	ENSP00000262317:R301Q	R	+	2	0	CRAMP1L	1656090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.652000	0.83633	2.630000	0.89119	0.655000	0.94253	CGG		0.627	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	8	0	0	0	1	0	4	8				
IQCE	23288	broad.mit.edu	37	7	2613060	2613060	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2613060C>T	ENST00000402050.2	+	6	587	c.403C>T	c.(403-405)Cct>Tct	p.P135S	IQCE_ENST00000438376.2_Missense_Mutation_p.P119S|IQCE_ENST00000325979.7_Missense_Mutation_p.P70S|IQCE_ENST00000404984.1_Missense_Mutation_p.P84S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	135						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AGGTCATGTCCCTGGGACTCC	0.348																																						ENST00000402050.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(403-405)Cct>Tct		IQ motif containing E							154.0	138.0	143.0					7																	2613060		1837	4084	5921	SO:0001583	missense	23288							g.chr7:2613060C>T	AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.403C>T	7.37:g.2613060C>T	ENSP00000385597:p.Pro135Ser					IQCE_ENST00000438376.2_Missense_Mutation_p.P119S|IQCE_ENST00000404984.1_Missense_Mutation_p.P84S|IQCE_ENST00000325979.7_Missense_Mutation_p.P70S	p.P135S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)	6	587	+		Ovarian(82;0.0112)	135					Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	ENST00000402050.2	37	c.403C>T	CCDS43542.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891631	0.72524	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45	5.46	4.57	0.56435	.	0.356381	0.28572	N	0.014876	T	0.13713	0.0332	L	0.47016	1.485	0.24330	N	0.995005	D;D;D;P;D;P	0.67145	0.989;0.989;0.996;0.937;0.989;0.897	P;P;P;P;P;B	0.57468	0.666;0.666;0.821;0.453;0.666;0.357	T	0.06058	-1.0848	10	0.37606	T	0.19	-8.1091	12.2815	0.54767	0.0:0.9152:0.0:0.0848	.	70;119;70;135;135;119	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	S	135;84;171;119;70;70;70	ENSP00000385597:P135S;ENSP00000385945:P84S;ENSP00000404643:P171S;ENSP00000396178:P119S;ENSP00000313772:P70S;ENSP00000413570:P70S	ENSP00000313772:P70S	P	+	1	0	IQCE	2579586	0.734000	0.28142	0.012000	0.15200	0.746000	0.42486	2.678000	0.46900	1.269000	0.44280	0.655000	0.94253	CCT		0.348	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558		17	39	0	0	0	1	0	17	39				
NCOR2	9612	broad.mit.edu	37	12	124824683	124824683	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824683G>A	ENST00000405201.1	-	37	5556	c.5556C>T	c.(5554-5556)tcC>tcT	p.S1852S	NCOR2_ENST00000404121.2_Silent_p.S1413S|NCOR2_ENST00000404621.1_Silent_p.S1842S|NCOR2_ENST00000397355.1_Silent_p.S1843S|NCOR2_ENST00000356219.3_Silent_p.S1859S|NCOR2_ENST00000429285.2_Silent_p.S1842S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1863	Poly-Gly.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGGGCATGGGAGTGGGAGG	0.667																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5575-5577)tcC>tcT		nuclear receptor corepressor 2							55.0	63.0	60.0					12																	124824683		2075	4195	6270	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824683G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5556C>T	12.37:g.124824683G>A						NCOR2_ENST00000404621.1_Silent_p.S1842S|NCOR2_ENST00000429285.2_Silent_p.S1842S|NCOR2_ENST00000405201.1_Silent_p.S1852S|NCOR2_ENST00000404121.2_Silent_p.S1413S|NCOR2_ENST00000397355.1_Silent_p.S1843S	p.S1859S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	38	5732	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1863					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5577C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	1.669	-0.509443	0.04231	.	.	ENSG00000196498	ENST00000440187;ENST00000453428	.	.	.	4.18	0.59	0.17458	.	.	.	.	.	T	0.45458	0.1343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-5.8762	3.9751	0.09470	0.342:0.1977:0.4603:0.0	.	.	.	.	S	87;182	.	.	P	-	1	0	NCOR2	123390636	0.408000	0.25360	0.366000	0.25914	0.227000	0.25037	-0.278000	0.08490	0.215000	0.20761	-0.424000	0.05967	CCA		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		34	26	0	0	0	1	0	34	26				
LTBP1	4052	broad.mit.edu	37	2	33246017	33246017	+	Missense_Mutation	SNP	C	C	T	rs377502460		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246017C>T	ENST00000404816.2	+	3	960	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	LTBP1_ENST00000354476.3_Missense_Mutation_p.R203W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	203	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GATGTGTCTCCGGCCACAACT	0.502																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(607-609)Cgg>Tgg		latent transforming growth factor beta binding protein 1		C	TRP/ARG	0,4406		0,0,2203	193.0	198.0	196.0		607	4.8	1.0	2		196	2,8596		0,2,4297	no	missense	LTBP1	NM_206943.2	101	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	203/1722	33246017	2,13002	2203	4299	6502	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246017C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.607C>T	2.37:g.33246017C>T	ENSP00000386043:p.Arg203Trp					LTBP1_ENST00000354476.3_Missense_Mutation_p.R203W	p.R203W			Q14766	LTBP1_HUMAN			3	960	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	203			EGF-like 1.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.607C>T	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917926	0.73098	0.0	2.33E-4	ENSG00000049323	ENST00000404816;ENST00000354476	D;D	0.91894	-2.93;-2.93	4.8	4.8	0.61643	.	.	.	.	.	D	0.94653	0.8276	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.62491	0.903	D	0.95297	0.8400	9	0.87932	D	0	.	18.2483	0.89995	0.0:1.0:0.0:0.0	.	203	Q14766-4	.	W	203	ENSP00000386043:R203W;ENSP00000346467:R203W	ENSP00000346467:R203W	R	+	1	2	LTBP1	33099521	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.768000	0.55295	2.359000	0.80004	0.637000	0.83480	CGG		0.502	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		104	168	0	0	0	1	0	104	168				
RIMBP3	85376	broad.mit.edu	37	22	20457162	20457162	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457162C>T	ENST00000426804.1	-	1	4624	c.4140G>A	c.(4138-4140)aaG>aaA	p.K1380K	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1380										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCTGCTCCTCCTTCAAAACGT	0.587																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4138-4140)aaG>aaA		RIMS binding protein 3							65.0	76.0	72.0					22																	20457162		1971	4182	6153	SO:0001819	synonymous_variant	85376							g.chr22:20457162C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4140G>A	22.37:g.20457162C>T							p.K1380K	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4624	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.4140G>A	CCDS46665.1																																																																																				0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		9	16	0	0	0	1	0	9	16				
ZNF350	59348	broad.mit.edu	37	19	52468506	52468506	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52468506T>C	ENST00000243644.4	-	5	1427	c.1200A>G	c.(1198-1200)agA>agG	p.R400R	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	400					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGCCATAGGGTCTCTCTCCTG	0.453																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1198-1200)agA>agG		zinc finger protein 350							79.0	73.0	75.0					19																	52468506		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468506T>C	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.1200A>G	19.37:g.52468506T>C						HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.R400R	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1427	-		all_neural(266;0.0505)	400					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1200A>G	CCDS12845.1																																																																																				0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		17	28	0	0	0	1	0	17	28				
ANKK1	255239	broad.mit.edu	37	11	113270783	113270783	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113270783C>T	ENST00000303941.3	+	8	2186	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	698							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCGCCCACCTGGCCGCCCT	0.627																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(2092-2094)Ctg>Ttg		ankyrin repeat and kinase domain containing 1							32.0	38.0	36.0					11																	113270783		2030	4166	6196	SO:0001819	synonymous_variant	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270783C>T	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.2092C>T	11.37:g.113270783C>T							p.L698L	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	2186	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	698						Silent	SNP	ENST00000303941.3	37	c.2092C>T	CCDS44734.1																																																																																				0.627	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		24	28	0	0	0	1	0	24	28				
UPK2	7379	broad.mit.edu	37	11	118827128	118827128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118827128G>A	ENST00000264031.2	+	1	103	c.68G>A	c.(67-69)gGg>gAg	p.G23E	RP11-158I9.7_ENST00000584831.1_RNA|UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	23					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTGTCCCCAGGGGCTGCAGGT	0.642																																						ENST00000264031.2																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(67-69)gGg>gAg		uroplakin 2																																				SO:0001583	missense	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118827128G>A	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.68G>A	11.37:g.118827128G>A	ENSP00000264031:p.Gly23Glu					UPK2_ENST00000534788.1_Intron	p.G23E	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	103	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	23					B0YJ92|O00457|Q53YV0	Missense_Mutation	SNP	ENST00000264031.2	37	c.68G>A	CCDS8404.1	.	.	.	.	.	.	.	.	.	.	G	8.049	0.765606	0.15914	.	.	ENSG00000110375	ENST00000264031	T	0.49139	0.79	5.22	2.23	0.28157	.	0.392203	0.21810	N	0.068799	T	0.37571	0.1008	L	0.54323	1.7	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.37820	-0.9689	10	0.72032	D	0.01	-4.4032	3.7344	0.08504	0.0912:0.1542:0.5761:0.1786	.	23	O00526	UPK2_HUMAN	E	23	ENSP00000264031:G23E	ENSP00000264031:G23E	G	+	2	0	UPK2	118332338	0.504000	0.26123	0.014000	0.15608	0.098000	0.18820	1.407000	0.34657	0.749000	0.32854	0.561000	0.74099	GGG		0.642	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	NM_006760		24	29	0	0	0	1	0	24	29				
TSHZ1	10194	broad.mit.edu	37	18	72999357	72999357	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72999357C>T	ENST00000580243.1	+	2	2343	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	TSHZ1_ENST00000322038.5_Silent_p.S620S			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	665					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGAAGAGCTCCCTGGCCAAGG	0.557																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1858-1860)tcC>tcT		teashirt zinc finger homeobox 1							99.0	88.0	92.0					18																	72999357		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999357C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1995C>T	18.37:g.72999357C>T						TSHZ1_ENST00000580243.1_Silent_p.S665S	p.S620S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2444	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	665					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.1860C>T																																																																																					0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		26	46	0	0	0	1	0	26	46				
MFHAS1	9258	broad.mit.edu	37	8	8750011	8750011	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750011C>T	ENST00000276282.6	-	1	1144	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	186										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCCACGTCCAGGGTGCGCA	0.682																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(556-558)ctG>ctA		malignant fibrous histiocytoma amplified sequence 1							22.0	26.0	24.0					8																	8750011		2196	4294	6490	SO:0001819	synonymous_variant	9258							g.chr8:8750011C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.558G>A	8.37:g.8750011C>T							p.L186L	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1144	-		Hepatocellular(245;0.217)	186					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.558G>A	CCDS34844.1																																																																																				0.682	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		8	8	0	0	0	1	0	8	8				
ITGA11	22801	broad.mit.edu	37	15	68624319	68624319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:68624319G>A	ENST00000315757.7	-	14	1734	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	ITGA11_ENST00000423218.2_Nonsense_Mutation_p.R550*	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	550					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|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)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TTGAGGTCTCGAACTGAGGCA	0.537																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(1648-1650)Cga>Tga		integrin, alpha 11	Tirofiban(DB00775)						62.0	60.0	61.0					15																	68624319		1968	4156	6124	SO:0001587	stop_gained	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68624319G>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1648C>T	15.37:g.68624319G>A	ENSP00000327290:p.Arg550*					ITGA11_ENST00000315757.7_Nonsense_Mutation_p.R550*	p.R550*			Q9UKX5	ITA11_HUMAN			14	1743	-			550					J3KQM2|Q8WYI8|Q9UKQ1	Nonsense_Mutation	SNP	ENST00000315757.7	37	c.1648C>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771388	0.90108	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	.	.	.	4.71	2.69	0.31865	.	0.249773	0.38663	N	0.001605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	12.5083	0.55993	0.0:0.0:0.6974:0.3025	.	.	.	.	X	550;550;185;550	.	ENSP00000327290:R550X	R	-	1	2	ITGA11	66411373	0.915000	0.31059	0.014000	0.15608	0.579000	0.36224	4.491000	0.60326	0.948000	0.37687	0.462000	0.41574	CGA		0.537	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	14	0	0	0	1	0	10	14				
GKN1	56287	broad.mit.edu	37	2	69207908	69207908	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:69207908C>T	ENST00000377938.2	+	6	616	c.553C>T	c.(553-555)Cta>Tta	p.L185L		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	185					digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GACCAGTGTACTATGGATTGT	0.373																																						ENST00000377938.2																			0				breast(2)|large_intestine(4)|lung(5)	11						c.(553-555)Cta>Tta		gastrokine 1							126.0	120.0	122.0					2																	69207908		2203	4300	6503	SO:0001819	synonymous_variant	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207908C>T	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.553C>T	2.37:g.69207908C>T							p.L185L	NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN			6	616	+			185					Q8IUA9	Silent	SNP	ENST00000377938.2	37	c.553C>T	CCDS1891.2																																																																																				0.373	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617		20	29	0	0	0	1	0	20	29				
ARHGAP21	57584	broad.mit.edu	37	10	24908778	24908778	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24908778G>A	ENST00000396432.2	-	9	2532	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	ARHGAP21_ENST00000320481.6_Silent_p.S469S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	681					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATAAAGAGGGGGATTTCCCAG	0.483																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2044-2046)tcC>tcT		Rho GTPase activating protein 21							56.0	55.0	56.0					10																	24908778		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908778G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2046C>T	10.37:g.24908778G>A						ARHGAP21_ENST00000320481.6_Silent_p.S469S	p.S682S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			9	2532	-			681					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.2046C>T	CCDS7144.2																																																																																				0.483	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		17	37	0	0	0	1	0	17	37				
BRD8	10902	broad.mit.edu	37	5	137500054	137500054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137500054C>T	ENST00000254900.5	-	13	2151	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	BRD8_ENST00000455658.2_Missense_Mutation_p.E553K|BRD8_ENST00000411594.2_Missense_Mutation_p.E597K|BRD8_ENST00000230901.5_Missense_Mutation_p.E667K|BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000402931.1_Missense_Mutation_p.E594K	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	594					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGGATCTTCAATGGGATTT	0.413																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(1780-1782)Gaa>Aaa		bromodomain containing 8							145.0	139.0	141.0					5																	137500054		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137500054C>T	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1780G>A	5.37:g.137500054C>T	ENSP00000254900:p.Glu594Lys					BRD8_ENST00000455658.2_Missense_Mutation_p.E553K|BRD8_ENST00000402931.1_Missense_Mutation_p.E594K|BRD8_ENST00000230901.5_Missense_Mutation_p.E667K|BRD8_ENST00000411594.2_Missense_Mutation_p.E597K|BRD8_ENST00000515014.1_5'UTR	p.E594K	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		13	2151	-			594					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1780G>A	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908042	0.72868	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.2	5.2	0.72013	.	0.433914	0.26286	N	0.025258	T	0.50973	0.1647	L	0.27053	0.805	0.52099	D	0.999941	D;D;P;B;D;P;B;D	0.69078	0.981;0.984;0.872;0.068;0.986;0.822;0.4;0.997	P;P;B;B;P;B;B;P	0.58520	0.652;0.449;0.171;0.022;0.793;0.194;0.121;0.84	T	0.43426	-0.9392	10	0.35671	T	0.21	-7.8073	16.0396	0.80654	0.0:1.0:0.0:0.0	.	553;578;373;667;597;488;667;594	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	K	594;623;592;667;594;597;488;553;62	ENSP00000254900:E594K;ENSP00000398067:E623K;ENSP00000398873:E592K;ENSP00000230901:E667K;ENSP00000384845:E594K;ENSP00000394330:E597K;ENSP00000408396:E553K;ENSP00000426385:E62K	ENSP00000230901:E667K	E	-	1	0	BRD8	137527953	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.599000	0.61076	2.709000	0.92574	0.491000	0.48974	GAA		0.413	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		35	72	0	0	0	1	0	35	72				
CFAP61	26074	broad.mit.edu	37	20	20150022	20150022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20150022C>T	ENST00000245957.5	+	13	1379	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		435										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTCCTCATCCAGAACTTCGT	0.458																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1303-1305)Cag>Tag		chromosome 20 open reading frame 26							121.0	107.0	112.0					20																	20150022		2203	4300	6503	SO:0001587	stop_gained	26074							g.chr20:20150022C>T																												ENST00000245957.5:c.1303C>T	20.37:g.20150022C>T	ENSP00000245957:p.Gln435*					C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.Q435*	p.Q435*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	13	1379	+			435					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	ENST00000245957.5	37	c.1303C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.622068	0.98396	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000245957;ENST00000377306;ENST00000451767	.	.	.	5.87	5.87	0.94306	.	0.071693	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	17.4969	0.87720	0.0:1.0:0.0:0.0	.	.	.	.	X	375;29;435;435;435	.	ENSP00000245957:Q435X	Q	+	1	0	C20orf26	20098022	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.308000	0.65768	2.941000	0.99782	0.655000	0.94253	CAG		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	51	0	0	0	1	0	25	51				
PPP2R3A	5523	broad.mit.edu	37	3	135721087	135721087	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135721087C>T	ENST00000264977.3	+	2	1364	c.747C>T	c.(745-747)atC>atT	p.I249I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	249					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACAGACATCATAAAACAAT	0.318																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(745-747)atC>atT		protein phosphatase 2, regulatory subunit B'', alpha							49.0	52.0	51.0					3																	135721087		2202	4300	6502	SO:0001819	synonymous_variant	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721087C>T	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.747C>T	3.37:g.135721087C>T						PPP2R3A_ENST00000490467.1_Intron	p.I249I	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	1364	+			249					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Silent	SNP	ENST00000264977.3	37	c.747C>T	CCDS3087.1																																																																																				0.318	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		18	25	0	0	0	1	0	18	25				
SH3RF2	153769	broad.mit.edu	37	5	145439428	145439428	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145439428G>A	ENST00000511217.1	+	8	1607		c.e8-1		SH3RF2_ENST00000359120.4_Splice_Site|SH3RF2_ENST00000511705.1_Splice_Site			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2						negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAATTCCCCAGATGGATCCCT	0.597																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.e8-1		SH3 domain containing ring finger 2							37.0	38.0	38.0					5																	145439428		2203	4299	6502	SO:0001630	splice_region_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439428G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1556-1G>A	5.37:g.145439428G>A						SH3RF2_ENST00000359120.4_Splice_Site|SH3RF2_ENST00000511705.1_Splice_Site				Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1607	+								A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Splice_Site	SNP	ENST00000511217.1	37		CCDS4280.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486823	0.63962	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8695	0.79101	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH3RF2	145419621	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.815000	0.69215	2.246000	0.74042	0.536000	0.68110	.		0.597	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	Intron	15	42	0	0	0	1	0	15	42				
BPIFB3	359710	broad.mit.edu	37	20	31652273	31652273	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31652273C>T	ENST00000375494.3	+	7	663	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	221	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCCTGGTGTCCCTTGGGGCTC	0.527																																						ENST00000375494.3																			0											c.(661-663)tcC>tcT		BPI fold containing family B, member 3							87.0	71.0	76.0					20																	31652273		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31652273C>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.663C>T	20.37:g.31652273C>T							p.S221S	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			7	663	+			221			Leu-rich.		Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.663C>T	CCDS13212.1																																																																																				0.527	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		15	33	0	0	0	1	0	15	33				
FOLH1B	219595	broad.mit.edu	37	11	89405125	89405125	+	RNA	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:89405125A>T	ENST00000532352.1	+	0	1065							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGAGTGGAGCAGCTGTTGTTC	0.418																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							199.0	179.0	185.0					11																	89405125		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405125A>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405125A>T										Q9HBA9	FOH1B_HUMAN			0	1065	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.418	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		25	43	0	0	0	1	0	25	43				
DIP2B	57609	broad.mit.edu	37	12	51135298	51135298	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51135298G>A	ENST00000301180.5	+	37	4488	c.4454G>A	c.(4453-4455)cGg>cAg	p.R1485Q	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1485						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCGGTGTCCCGGATCCACAGA	0.463																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4453-4455)cGg>cAg		DIP2 disco-interacting protein 2 homolog B (Drosophila)							149.0	124.0	132.0					12																	51135298		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51135298G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4454G>A	12.37:g.51135298G>A	ENSP00000301180:p.Arg1485Gln						p.R1485Q	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			37	4488	+			1485					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4454G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	35	5.572743	0.96553	.	.	ENSG00000066084	ENST00000301180	T	0.10288	2.89	5.06	5.06	0.68205	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.32615	0.0835	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00533	-1.1685	10	0.38643	T	0.18	-15.7798	18.5847	0.91185	0.0:0.0:1.0:0.0	.	1485	Q9P265	DIP2B_HUMAN	Q	1485	ENSP00000301180:R1485Q	ENSP00000301180:R1485Q	R	+	2	0	DIP2B	49421565	1.000000	0.71417	0.569000	0.28460	0.895000	0.52256	9.601000	0.98297	2.783000	0.95769	0.655000	0.94253	CGG		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		27	36	0	0	0	1	0	27	36				
TGM3	7053	broad.mit.edu	37	20	2308911	2308911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308911G>A	ENST00000381458.5	+	9	1296	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	411					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACAGTGGAAGAATTCCGTGA	0.537																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1231-1233)aaG>aaA		transglutaminase 3	L-Glutamine(DB00130)						143.0	106.0	119.0					20																	2308911		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308911G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1233G>A	20.37:g.2308911G>A							p.K411K	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			9	1296	+			411					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.1233G>A	CCDS33435.1																																																																																				0.537	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		26	54	0	0	0	1	0	26	54				
NKRF	55922	broad.mit.edu	37	X	118723541	118723541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118723541G>A	ENST00000371527.1	-	2	2499	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	NKRF_ENST00000304449.5_Missense_Mutation_p.S616F|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.S631F	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	616	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGGCTCTCGGAGCGGGCGTA	0.443																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1846-1848)tCc>tTc		NFKB repressing factor							151.0	132.0	139.0					X																	118723541		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723541G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1847C>T	X.37:g.118723541G>A	ENSP00000360582:p.Ser616Phe					NKRF_ENST00000304449.5_Missense_Mutation_p.S616F|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.S631F	p.S616F	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2499	-			616			R3H.		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1847C>T	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085570	0.55861	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.53206	0.63;0.63;0.63	5.77	5.77	0.91146	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.89095	3.005	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.80082	-0.1531	10	0.87932	D	0	-10.2051	17.805	0.88599	0.0:0.0:1.0:0.0	.	616	O15226	NKRF_HUMAN	F	616;616;631	ENSP00000360582:S616F;ENSP00000304803:S616F;ENSP00000442308:S631F	ENSP00000304803:S616F	S	-	2	0	NKRF	118607569	1.000000	0.71417	0.941000	0.38009	0.826000	0.46750	9.428000	0.97476	2.424000	0.82194	0.600000	0.82982	TCC		0.443	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		60	96	0	0	0	1	0	60	96				
KBTBD2	25948	broad.mit.edu	37	7	32910196	32910196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32910196C>A	ENST00000304056.4	-	4	1332	c.633G>T	c.(631-633)caG>caT	p.Q211H	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	211										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			AAGACAAATACTGGGATCGTG	0.403																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(631-633)caG>caT		kelch repeat and BTB (POZ) domain containing 2							108.0	105.0	106.0					7																	32910196		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32910196C>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.633G>T	7.37:g.32910196C>A	ENSP00000302586:p.Gln211His					AVL9_ENST00000404479.1_Intron	p.Q211H	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1332	-			211					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.633G>T	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091022	0.55968	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.69561	-0.41	5.72	4.84	0.62591	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.31207	0.915	0.58432	D	0.999999	D	0.67145	0.996	D	0.79108	0.992	T	0.74444	-0.3663	10	0.49607	T	0.09	.	14.8938	0.70627	0.0:0.9312:0.0:0.0688	.	211	Q8IY47	KBTB2_HUMAN	H	211;18	ENSP00000302586:Q211H	ENSP00000302586:Q211H	Q	-	3	2	KBTBD2	32876721	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.562000	0.49601	0.655000	0.94253	CAG		0.403	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		37	72	1	0	1.30998e-17	1	1.33394e-17	37	72				
IGHV1-18	28468	broad.mit.edu	37	14	106641986	106641986	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106641986G>A	ENST00000390605.2	-	0	70									immunoglobulin heavy variable 1-18																		GGATGCTCCAGGTCCAGTCCA	0.542																																						ENST00000390605.2																			0																				54.0	52.0	53.0					14																	106641986		1911	4117	6028			28468							g.chr14:106641986G>A	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641986G>A														0	70	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.542	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		10	20	0	0	0	1	0	10	20				
WNT1	7471	broad.mit.edu	37	12	49373452	49373452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49373452G>A	ENST00000293549.3	+	2	342	c.306G>A	c.(304-306)tgG>tgA	p.W102*		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	102					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|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 transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		ATCGCCGCTGGAACTGTCCCA	0.662																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(304-306)tgG>tgA		wingless-type MMTV integration site family, member 1							33.0	33.0	33.0					12																	49373452		2203	4300	6503	SO:0001587	stop_gained	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373452G>A	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.306G>A	12.37:g.49373452G>A	ENSP00000293549:p.Trp102*						p.W102*	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	342	+			102					Q5U0N2	Nonsense_Mutation	SNP	ENST00000293549.3	37	c.306G>A	CCDS8776.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137639	0.94517	.	.	ENSG00000125084	ENST00000293549	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3259	0.87246	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	ENSP00000293549:W102X	W	+	3	0	WNT1	47659719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.612000	0.98347	2.607000	0.88179	0.655000	0.94253	TGG		0.662	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			20	32	0	0	0	1	0	20	32				
KIRREL2	84063	broad.mit.edu	37	19	36351463	36351463	+	Silent	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351463A>T	ENST00000360202.5	+	7	1020	c.822A>T	c.(820-822)ccA>ccT	p.P274P	KIRREL2_ENST00000262625.7_Silent_p.P274P|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.P274P|KIRREL2_ENST00000347900.6_Silent_p.P224P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	274	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCGCGGGCCAAGGTTAGAGG	0.647																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(820-822)ccA>ccT		kin of IRRE like 2 (Drosophila)							51.0	57.0	55.0					19																	36351463		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351463A>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.822A>T	19.37:g.36351463A>T						KIRREL2_ENST00000347900.6_Silent_p.P224P|KIRREL2_ENST00000586102.2_Silent_p.P254P|KIRREL2_ENST00000262625.7_Silent_p.P274P|KIRREL2_ENST00000592409.1_Silent_p.P274P|NPHS1_ENST00000591817.1_Intron	p.P274P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1020	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		274			Ig-like C2-type 3.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.822A>T	CCDS12481.1																																																																																				0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		33	49	0	0	0	1	0	33	49				
TCHHL1	126637	broad.mit.edu	37	1	152057805	152057805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152057805C>T	ENST00000368806.1	-	3	2417	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	785							calcium ion binding (GO:0005509)	p.D785Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGCTCTTGGTCTCTCTGCATC	0.488																																						ENST00000368806.1																			1	Substitution - Missense(1)	p.D785Y(1)	lung(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2353-2355)Gac>Aac		trichohyalin-like 1							168.0	157.0	161.0					1																	152057805		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057805C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2353G>A	1.37:g.152057805C>T	ENSP00000357796:p.Asp785Asn						p.D785N	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2417	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		785					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2353G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.069163	0.36470	.	.	ENSG00000182898	ENST00000368806	T	0.30182	1.54	4.89	2.98	0.34508	.	0.178406	0.27113	N	0.020873	T	0.11239	0.0274	L	0.53249	1.67	0.09310	N	1	B	0.31611	0.331	B	0.28709	0.093	T	0.09465	-1.0673	10	0.39692	T	0.17	-2.291	7.9005	0.29731	0.0:0.8002:0.0:0.1998	.	785	Q5QJ38	TCHL1_HUMAN	N	785	ENSP00000357796:D785N	ENSP00000357796:D785N	D	-	1	0	TCHHL1	150324429	0.000000	0.05858	0.007000	0.13788	0.102000	0.19082	0.548000	0.23314	1.060000	0.40578	0.655000	0.94253	GAC		0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		40	43	0	0	0	1	0	40	43				
ARL14	80117	broad.mit.edu	37	3	160395579	160395579	+	Silent	SNP	C	C	A	rs201138551		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:160395579C>A	ENST00000320767.2	+	1	632	c.445C>A	c.(445-447)Cgg>Agg	p.R149R		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	149					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TTGCAGTGACCGGAACTGGTA	0.502																																						ENST00000320767.2																			0				lung(6)	6						c.(445-447)Cgg>Agg		ADP-ribosylation factor-like 14							51.0	49.0	50.0					3																	160395579		2203	4300	6503	SO:0001819	synonymous_variant	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395579C>A	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.445C>A	3.37:g.160395579C>A							p.R149R	NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	632	+			149					Q9H655	Silent	SNP	ENST00000320767.2	37	c.445C>A	CCDS3192.1																																																																																				0.502	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		27	31	1	0	7.92952e-12	1	8.02318e-12	27	31				
HFM1	164045	broad.mit.edu	37	1	91731618	91731618	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91731618G>A	ENST00000370425.3	-	36	4028	c.3930C>T	c.(3928-3930)ccC>ccT	p.P1310P	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Silent_p.P989P|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1310					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACTCTTGAAGGGGTAGCTTAC	0.363																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3928-3930)ccC>ccT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							171.0	155.0	160.0					1																	91731618		1842	4078	5920	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91731618G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3930C>T	1.37:g.91731618G>A						HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Silent_p.P989P|HFM1_ENST00000462405.1_Intron	p.P1310P	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	36	4028	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1310					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3930C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	4.979	0.181855	0.09495	.	.	ENSG00000162669	ENST00000430465	T	0.60171	0.21	5.18	-0.422	0.12329	.	0.977685	0.08333	N	0.962032	T	0.09024	0.0223	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.18650	-1.0330	7	0.09338	T	0.73	.	1.5378	0.02549	0.2778:0.1424:0.4343:0.1455	.	.	.	.	L	522	ENSP00000387661:P522L	ENSP00000387661:P522L	P	-	2	0	HFM1	91504206	0.001000	0.12720	0.003000	0.11579	0.863000	0.49368	-0.354000	0.07681	-0.017000	0.14103	-0.150000	0.13652	CCC		0.363	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		14	45	0	0	0	1	0	14	45				
FAM90A1	55138	broad.mit.edu	37	12	8377331	8377331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8377331G>A	ENST00000538603.1	-	4	656	c.98C>T	c.(97-99)cCc>cTc	p.P33L	FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	33							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ATCGGGCGGGGGAGCCCTTGG	0.642																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(97-99)cCc>cTc		family with sequence similarity 90, member A1							9.0	13.0	12.0					12																	8377331		2185	4259	6444	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8377331G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.98C>T	12.37:g.8377331G>A	ENSP00000445418:p.Pro33Leu					FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33L	p.P33L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	4	656	-			33					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.98C>T	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	12.06	1.824334	0.32237	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.14391	2.51;2.51	0.706	0.706	0.18133	.	.	.	.	.	T	0.23886	0.0578	L	0.47016	1.485	0.09310	N	1	D	0.67145	0.996	D	0.65684	0.937	T	0.10200	-1.0640	8	0.40728	T	0.16	-42.1669	.	.	.	.	33	Q86YD7	F90A1_HUMAN	L	33	ENSP00000307798:P33L;ENSP00000445418:P33L	ENSP00000307798:P33L	P	-	2	0	FAM90A1	8268598	0.018000	0.18449	0.010000	0.14722	0.046000	0.14306	0.297000	0.19101	0.668000	0.31126	0.196000	0.17591	CCC		0.642	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		3	4	0	0	0	1	0	3	4				
USP51	158880	broad.mit.edu	37	X	55513685	55513685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55513685C>T	ENST00000500968.3	-	2	1770	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	563	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GGCACTGCTTCCTAGGTGCTC	0.468																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1687-1689)gGa>gAa		ubiquitin specific peptidase 51							73.0	57.0	62.0					X																	55513685		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513685C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1688G>A	X.37:g.55513685C>T	ENSP00000423333:p.Gly563Glu					USP51_ENST00000586165.1_5'UTR	p.G563E	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	1770	-			563					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1688G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.234560	0.58886	.	.	ENSG00000247746	ENST00000500968	T	0.02236	4.38	2.96	2.96	0.34315	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.06826	0.0174	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34079	-0.9843	10	0.54805	T	0.06	.	11.1537	0.48476	0.0:1.0:0.0:0.0	.	563	Q70EK9	UBP51_HUMAN	E	563	ENSP00000423333:G563E	ENSP00000423333:G563E	G	-	2	0	USP51	55530410	1.000000	0.71417	0.966000	0.40874	0.971000	0.66376	6.583000	0.74053	1.758000	0.51981	0.455000	0.32223	GGA		0.468	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		20	34	0	0	0	1	0	20	34				
STAB1	23166	broad.mit.edu	37	3	52557097	52557097	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52557097G>T	ENST00000321725.6	+	63	7043	c.6967G>T	c.(6967-6969)Ggg>Tgg	p.G2323W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2323	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACGTGCAATGGGAAGCTGCT	0.627																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(6967-6969)Ggg>Tgg		stabilin 1							94.0	94.0	94.0					3																	52557097		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557097G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6967G>T	3.37:g.52557097G>T	ENSP00000312946:p.Gly2323Trp						p.G2323W	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	63	7043	+			2323			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.6967G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247343	0.59103	.	.	ENSG00000010327	ENST00000321725	D	0.92099	-2.97	5.74	5.74	0.90152	FAS1 domain (2);	0.184631	0.46758	D	0.000279	D	0.96371	0.8816	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96431	0.9319	10	0.87932	D	0	.	19.5294	0.95222	0.0:0.0:1.0:0.0	.	210;2323	B3KSK0;Q9NY15	.;STAB1_HUMAN	W	2323	ENSP00000312946:G2323W	ENSP00000312946:G2323W	G	+	1	0	STAB1	52532137	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	7.637000	0.83313	2.712000	0.92718	0.561000	0.74099	GGG		0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		43	85	1	0	3.05275e-18	1	3.11142e-18	43	85				
DENND4B	9909	broad.mit.edu	37	1	153914419	153914419	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153914419G>A	ENST00000361217.4	-	6	1399	c.981C>T	c.(979-981)ttC>ttT	p.F327F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	327	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGGCAGGGAAGGCAGGCC	0.692																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(979-981)ttC>ttT		DENN/MADD domain containing 4B							35.0	43.0	40.0					1																	153914419		2171	4263	6434	SO:0001819	synonymous_variant	9909							g.chr1:153914419G>A	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.981C>T	1.37:g.153914419G>A							p.F327F	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1399	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		327			DENN.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.981C>T	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417027	0.25552	.	.	ENSG00000198837	ENST00000472932	.	.	.	4.39	3.48	0.39840	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41805	-0.9488	4	.	.	.	-19.7494	8.4633	0.32940	0.1898:0.0:0.8102:0.0	.	.	.	.	F	176	.	.	S	-	2	0	DENND4B	152181043	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.434000	0.44802	1.085000	0.41206	0.462000	0.41574	TCC		0.692	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		12	18	0	0	0	1	0	12	18				
TRIM39	56658	broad.mit.edu	37	6	30309968	30309968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309968C>T	ENST00000396547.1	+	8	1649	c.1489C>T	c.(1489-1491)Cca>Tca	p.P497S	TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S|RPP21_ENST00000433076.2_5'Flank|RPP21_ENST00000428040.2_5'Flank|RPP21_ENST00000436442.2_5'Flank|TRIM39_ENST00000376659.5_Missense_Mutation_p.P467S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S|RPP21_ENST00000442966.2_5'Flank|TRIM39-RPP21_ENST00000513556.1_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	497	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P497S(1)		ovary(3)	3						CCTCTTCTACCCAGGCATCCG	0.527																																						ENST00000376659.5																			1	Substitution - Missense(1)	p.P497S(1)	lung(1)	ovary(3)	3						c.(1399-1401)Cca>Tca		tripartite motif containing 39							88.0	84.0	85.0					6																	30309968		1511	2708	4219	SO:0001583	missense	56658							g.chr6:30309968C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1489C>T	6.37:g.30309968C>T	ENSP00000379796:p.Pro497Ser					TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S|TRIM39_ENST00000396547.1_Missense_Mutation_p.P497S	p.P467S	NM_172016.2	NP_742013.1					8	1997	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.1399C>T	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895834	0.72639	.	.	ENSG00000204599	ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.076345	0.56097	D	0.000032	T	0.80788	0.4690	M	0.79926	2.475	0.44194	D	0.997014	D;D	0.89917	1.0;0.979	D;B	0.75484	0.986;0.446	T	0.80188	-0.1486	10	0.54805	T	0.06	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	497;467	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	S	467;497;497;467;467;467;497	ENSP00000379800:P467S;ENSP00000365844:P497S;ENSP00000439400:P467S;ENSP00000379797:P467S;ENSP00000365847:P467S;ENSP00000379796:P497S	ENSP00000365844:P497S	P	+	1	0	TRIM39	30417947	0.912000	0.30974	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.941000	0.99782	0.655000	0.94253	CCA		0.527	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		31	14	0	0	0	1	0	31	14				
MCM3AP	8888	broad.mit.edu	37	21	47678978	47678978	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678978G>A	ENST00000397708.1	-	17	3863	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Silent_p.V1203V			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1203	CID.				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)					GGGCCACACGGACCCTCTGGT	0.537																																						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.(3607-3609)gtC>gtT		minichromosome maintenance complex component 3 associated protein							115.0	106.0	109.0					21																	47678978		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47678978G>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.3609C>T	21.37:g.47678978G>A						MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.V1203V|MCM3AP_ENST00000467026.1_5'UTR	p.V1203V			O60318	MCM3A_HUMAN			17	3863	-	Breast(49;0.112)		1203					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.3609C>T	CCDS13734.1																																																																																				0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		5	85	0	0	0	1	0	5	85				
SLC27A5	10998	broad.mit.edu	37	19	59010872	59010872	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010872C>T	ENST00000263093.2	-	7	1763	c.1654G>A	c.(1654-1656)Ggg>Agg	p.G552R	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AAGGTGTCCCCGAGGCGGTCG	0.667																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1654-1656)Ggg>Agg		solute carrier family 27 (fatty acid transporter), member 5							42.0	41.0	41.0					19																	59010872		2203	4299	6502	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010872C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1654G>A	19.37:g.59010872C>T	ENSP00000263093:p.Gly552Arg					SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R	p.G552R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1763	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	552					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1654G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838119	0.91117	.	.	ENSG00000083807	ENST00000263093	T	0.50548	0.74	5.26	4.22	0.49857	AMP-dependent synthetase/ligase (1);	0.053037	0.85682	D	0.000000	T	0.78220	0.4249	H	0.97852	4.09	0.47009	D	0.999287	D	0.89917	1.0	D	0.91635	0.999	D	0.83905	0.0292	10	0.87932	D	0	-24.5005	10.4473	0.44501	0.0:0.9086:0.0:0.0914	.	552	Q9Y2P5	S27A5_HUMAN	R	552	ENSP00000263093:G552R	ENSP00000263093:G552R	G	-	1	0	SLC27A5	63702684	1.000000	0.71417	0.404000	0.26397	0.982000	0.71751	5.274000	0.65569	1.359000	0.45940	0.462000	0.41574	GGG		0.667	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		15	23	0	0	0	1	0	15	23				
TTN	7273	broad.mit.edu	37	2	179585147	179585147	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179585147C>T	ENST00000591111.1	-	78	22615	c.22391G>A	c.(22390-22392)gGa>gAa	p.G7464E	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6537E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G7781E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13019	Ig-like 56.				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)			CGTGTCACTTCCCACCTCATT	0.383																																						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.(23341-23343)gGa>gAa		titin							151.0	141.0	144.0					2																	179585147		1898	4124	6022	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585147C>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.22391G>A	2.37:g.179585147C>T	ENSP00000465570:p.Gly7464Glu					TTN_ENST00000342992.6_Missense_Mutation_p.G6537E|TTN_ENST00000591111.1_Missense_Mutation_p.G7464E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G7781E	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)		80	23566	-			7464			Ig-like 60.		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.23342G>A		.	.	.	.	.	.	.	.	.	.	C	13.60	2.284206	0.40394	.	.	ENSG00000155657	ENST00000342992	T	0.73152	-0.72	5.91	5.04	0.67666	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80944	0.4721	H	0.95712	3.71	0.80722	D	1	P	0.46859	0.885	B	0.42386	0.386	D	0.86739	0.1953	9	0.87932	D	0	.	15.0353	0.71741	0.0:0.9321:0.0:0.0679	.	7464	Q8WZ42	TITIN_HUMAN	E	6537	ENSP00000343764:G6537E	ENSP00000343764:G6537E	G	-	2	0	TTN	179293392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.505000	0.48720	0.650000	0.86243	GGA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	59	0	0	0	1	0	32	59				
ZNF662	389114	broad.mit.edu	37	3	42954791	42954791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:42954791C>T	ENST00000541208.1	+	4	619	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					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(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCTGATTTGTCCGGGTAAGTG	0.423																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(250-252)Ccg>Tcg		zinc finger protein 662							89.0	90.0	90.0					3																	42954791		2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42954791C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.250C>T	3.37:g.42954791C>T	ENSP00000446208:p.Pro84Ser					KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S	p.P84S			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	4	619	+			84					A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.250C>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.790891	0.00623	.	.	ENSG00000182983	ENST00000440367;ENST00000541208	T;T	0.40476	1.03;1.03	3.11	-1.45	0.08828	.	.	.	.	.	T	0.19366	0.0465	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27262	-1.0079	9	0.09590	T	0.72	.	3.145	0.06468	0.3663:0.2313:0.0:0.4024	.	84	Q6ZS27	ZN662_HUMAN	S	84	ENSP00000405047:P84S;ENSP00000446208:P84S	ENSP00000405047:P84S	P	+	1	0	ZNF662	42929795	0.000000	0.05858	0.224000	0.23877	0.164000	0.22412	-0.338000	0.07842	-0.015000	0.14150	-0.518000	0.04402	CCG		0.423	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		19	33	0	0	0	1	0	19	33				
SLCO1B1	10599	broad.mit.edu	37	12	21355470	21355470	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21355470G>A	ENST00000256958.2	+	10	1277	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	394					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G394E(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTTTTAGGAGGATATATCATT	0.289																																						ENST00000256958.2																			1	Substitution - Missense(1)	p.G394E(1)	skin(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1180-1182)gGa>gAa		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						61.0	61.0	61.0					12																	21355470		2203	4297	6500	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21355470G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1181G>A	12.37:g.21355470G>A	ENSP00000256958:p.Gly394Glu						p.G394E	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			10	1277	+			394					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1181G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517933	0.64634	.	.	ENSG00000134538	ENST00000256958	T	0.81078	-1.45	3.23	3.23	0.37069	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91673	0.7368	H	0.95437	3.67	0.46478	D	0.99906	D	0.89917	1.0	D	0.87578	0.998	D	0.93262	0.6644	10	0.87932	D	0	.	11.7732	0.51970	0.0:0.0:1.0:0.0	.	394	Q9Y6L6	SO1B1_HUMAN	E	394	ENSP00000256958:G394E	ENSP00000256958:G394E	G	+	2	0	SLCO1B1	21246737	1.000000	0.71417	0.969000	0.41365	0.271000	0.26615	7.001000	0.76297	1.783000	0.52377	0.484000	0.47621	GGA		0.289	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		15	26	0	0	0	1	0	15	26				
NEB	4703	broad.mit.edu	37	2	152497159	152497159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:152497159G>A	ENST00000172853.10	-	61	8542	c.8395C>T	c.(8395-8397)Cgt>Tgt	p.R2799C	NEB_ENST00000604864.1_Missense_Mutation_p.R2799C|NEB_ENST00000397345.3_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C|NEB_ENST00000409198.1_Missense_Mutation_p.R2799C|NEB_ENST00000427231.2_Missense_Mutation_p.R2799C			P20929	NEBU_HUMAN	nebulin	2799					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTGCTTACGATAGCCTTCT	0.433																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(8395-8397)Cgt>Tgt		nebulin							110.0	101.0	104.0					2																	152497159		1844	4093	5937	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497159G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8395C>T	2.37:g.152497159G>A	ENSP00000172853:p.Arg2799Cys					NEB_ENST00000409198.1_Missense_Mutation_p.R2799C|NEB_ENST00000172853.10_Missense_Mutation_p.R2799C|NEB_ENST00000427231.2_Missense_Mutation_p.R2799C|NEB_ENST00000604864.1_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C	p.R2799C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8597	-			2799					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8395C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.676074	0.88445	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.48201	0.82;3.07;3.07;0.82	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76424	-0.2964	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2799	P20929	NEBU_HUMAN	C	2799	ENSP00000386259:R2799C;ENSP00000380505:R2799C;ENSP00000416578:R2799C;ENSP00000172853:R2799C	ENSP00000172853:R2799C	R	-	1	0	NEB	152205405	0.974000	0.33945	1.000000	0.80357	0.940000	0.58332	2.560000	0.45896	2.941000	0.99782	0.655000	0.94253	CGT		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		43	81	0	0	0	1	0	43	81				
FARP1	10160	broad.mit.edu	37	13	99064191	99064191	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99064191C>T	ENST00000319562.6	+	16	1994	c.1729C>T	c.(1729-1731)Ccg>Tcg	p.P577S	FARP1_ENST00000376586.2_Missense_Mutation_p.P577S|FARP1_ENST00000595437.1_Missense_Mutation_p.P577S	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	577	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)			GGACGCCATGCCGGAAGCACT	0.443																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1729-1731)Ccg>Tcg		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							162.0	158.0	159.0					13																	99064191		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.chr13:99064191C>T	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.1729C>T	13.37:g.99064191C>T	ENSP00000322926:p.Pro577Ser					FARP1_ENST00000319562.6_Missense_Mutation_p.P577S|FARP1_ENST00000595437.1_Missense_Mutation_p.P577S	p.P577S			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		16	2065	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		577			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1729C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084183	0.55861	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.61627	0.09;0.09	5.91	5.06	0.68205	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.77219	0.4098	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.981;0.997	T	0.81118	-0.1078	10	0.87932	D	0	.	15.273	0.73720	0.0:0.9329:0.0:0.067	.	577;577	Q9Y4F1;C9JME2	FARP1_HUMAN;.	S	577;282;577	ENSP00000365771:P577S;ENSP00000322926:P577S	ENSP00000322926:P577S	P	+	1	0	FARP1	97862192	1.000000	0.71417	0.998000	0.56505	0.027000	0.11550	7.445000	0.80570	1.500000	0.48636	0.655000	0.94253	CCG		0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		47	119	0	0	0	1	0	47	119				
FMR1NB	158521	broad.mit.edu	37	X	147063088	147063088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147063088G>A	ENST00000370467.3	+	1	240	c.166G>A	c.(166-168)Gga>Aga	p.G56R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	56						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTCAGCCAGGATGGCGGGA	0.547																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(166-168)Gga>Aga		fragile X mental retardation 1 neighbor							101.0	92.0	95.0					X																	147063088		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063088G>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.166G>A	X.37:g.147063088G>A	ENSP00000359498:p.Gly56Arg						p.G56R	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			1	240	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.166G>A	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	G	1.836	-0.468623	0.04445	.	.	ENSG00000176988	ENST00000370467	T	0.53206	0.63	1.91	-3.83	0.04269	.	.	.	.	.	T	0.35307	0.0927	N	0.12182	0.205	0.09310	N	1	D	0.65815	0.995	D	0.66979	0.948	T	0.13442	-1.0509	9	0.18276	T	0.48	2.0E-4	0.6753	0.00865	0.4255:0.1769:0.2179:0.1796	.	56	Q8N0W7	FMR1N_HUMAN	R	56	ENSP00000359498:G56R	ENSP00000359498:G56R	G	+	1	0	FMR1NB	146870780	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.695000	0.01913	-1.613000	0.01577	-1.182000	0.01712	GGA		0.547	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		39	63	0	0	0	1	0	39	63				
ARL6IP5	10550	broad.mit.edu	37	3	69151019	69151019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:69151019G>A	ENST00000273258.3	+	2	310	c.206G>A	c.(205-207)gGa>gAa	p.G69E	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	69					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		ATGATCCTGGGAGGAATCGTG	0.493																																						ENST00000273258.3																			0				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(205-207)gGa>gAa		ADP-ribosylation-like factor 6 interacting protein 5							99.0	86.0	90.0					3																	69151019		2203	4300	6503	SO:0001583	missense	10550				L-glutamate transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:69151019G>A	AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.206G>A	3.37:g.69151019G>A	ENSP00000273258:p.Gly69Glu					ARL6IP5_ENST00000478935.1_Intron	p.G69E	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)	2	310	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	69					B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	ENST00000273258.3	37	c.206G>A	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422631	0.83559	.	.	ENSG00000144746	ENST00000273258;ENST00000412089	T	0.81330	-1.48	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.91882	0.7430	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.92683	0.6160	10	0.72032	D	0.01	-10.708	19.9981	0.97395	0.0:0.0:1.0:0.0	.	69	O75915	PRAF3_HUMAN	E	69	ENSP00000273258:G69E	ENSP00000273258:G69E	G	+	2	0	ARL6IP5	69233709	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	9.476000	0.97823	2.729000	0.93468	0.655000	0.94253	GGA		0.493	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407		14	23	0	0	0	1	0	14	23				
STAG1	10274	broad.mit.edu	37	3	136141885	136141885	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:136141885A>C	ENST00000383202.2	-	17	1908	c.1652T>G	c.(1651-1653)gTg>gGg	p.V551G	STAG1_ENST00000536929.1_Splice_Site_p.V135G|STAG1_ENST00000434713.2_Splice_Site_p.V325G|STAG1_ENST00000236698.5_Splice_Site_p.V551G	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	551					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGCAGTTAGCACCTAGAAACA	0.299																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.e17-1		stromal antigen 1							82.0	76.0	78.0					3																	136141885		2200	4295	6495	SO:0001630	splice_region_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141885A>C	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1651-1T>G	3.37:g.136141885A>C						STAG1_ENST00000236698.5_Splice_Site_p.V551_splice|STAG1_ENST00000434713.2_Splice_Site_p.V325_splice|STAG1_ENST00000536929.1_Splice_Site_p.V135_splice	p.V551_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			17	1908	-			551					O00539|Q6P275	Splice_Site	SNP	ENST00000383202.2	37	c.1650_splice	CCDS3090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.77|15.77	2.930773|2.930773	0.52866|0.52866	.|.	.|.	ENSG00000118007|ENSG00000118007	ENST00000492318|ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.|T;T;T;T	.|0.34667	.|1.76;1.79;1.85;1.35	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Armadillo-type fold (1);	.|0.058746	.|0.64402	.|D	.|0.000002	T|T	0.50446|0.50446	0.1616|0.1616	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	.|B;D;B	.|0.67145	.|0.001;0.996;0.002	.|B;P;B	.|0.62649	.|0.002;0.905;0.008	T|T	0.36866|0.36866	-0.9730|-0.9730	5|10	.|0.21014	.|T	.|0.42	.|.	16.0273|16.0273	0.80551|0.80551	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|568;551;551	.|Q4LE48;Q6P275;Q8WVM7	.|.;.;STAG1_HUMAN	G|G	162|551;551;325;135	.|ENSP00000372689:V551G;ENSP00000236698:V551G;ENSP00000404396:V325G;ENSP00000445787:V135G	.|ENSP00000236698:V551G	C|V	-|-	1|2	0|0	STAG1|STAG1	137624575|137624575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.910000|8.910000	0.92685|0.92685	2.185000|2.185000	0.69588|0.69588	0.529000|0.529000	0.55759|0.55759	TGC|GTG		0.299	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	Missense_Mutation	8	10	0	0	0	1	0	8	10				
EP400	57634	broad.mit.edu	37	12	132471080	132471080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471080C>T	ENST00000333577.4	+	7	2168	c.2059C>T	c.(2059-2061)Cct>Tct	p.P687S	EP400_ENST00000389561.2_Missense_Mutation_p.P651S|EP400_ENST00000389562.2_Missense_Mutation_p.P650S|EP400_ENST00000332482.4_Missense_Mutation_p.P614S|EP400_ENST00000330386.6_Missense_Mutation_p.P651S			Q96L91	EP400_HUMAN	E1A binding protein p400	687					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACAAGGCTCCCTGTGGACCC	0.657																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2059-2061)Cct>Tct		E1A binding protein p400							73.0	68.0	70.0					12																	132471080		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471080C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2059C>T	12.37:g.132471080C>T	ENSP00000333602:p.Pro687Ser					EP400_ENST00000389561.2_Missense_Mutation_p.P651S|EP400_ENST00000330386.6_Missense_Mutation_p.P651S|EP400_ENST00000389562.2_Missense_Mutation_p.P650S|EP400_ENST00000332482.4_Missense_Mutation_p.P614S	p.P687S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	7	2168	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	687					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.2059C>T		.	.	.	.	.	.	.	.	.	.	C	3.277	-0.147800	0.06627	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89123	-2.45;-2.46;-2.46;-2.46;-2.47	5.49	2.59	0.31030	.	0.719651	0.14092	N	0.341923	T	0.76241	0.3960	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.16603	0.004;0.002;0.004;0.018;0.004	B;B;B;B;B	0.16289	0.007;0.007;0.007;0.015;0.007	T	0.57648	-0.7775	10	0.07990	T	0.79	.	5.1039	0.14773	0.0:0.376:0.343:0.281	.	651;651;650;687;614	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	S	614;687;651;650;614;651;687;651;651	ENSP00000333602:P687S;ENSP00000374212:P651S;ENSP00000374213:P650S;ENSP00000331737:P614S;ENSP00000330620:P651S	ENSP00000330620:P651S	P	+	1	0	EP400	131037033	0.004000	0.15560	0.004000	0.12327	0.140000	0.21249	0.561000	0.23515	0.223000	0.20920	0.467000	0.42956	CCT		0.657	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		39	95	0	0	0	1	0	39	95				
APC	324	broad.mit.edu	37	5	112177570	112177570	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112177570C>T	ENST00000457016.1	+	16	6659	c.6279C>T	c.(6277-6279)tcC>tcT	p.S2093S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S2093S|APC_ENST00000257430.4_Silent_p.S2093S			P25054	APC_HUMAN	adenomatous polyposis coli	2093	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGGTCTATCCCCTGATTCAG	0.378		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6277-6279)tcC>tcT		adenomatous polyposis coli							91.0	94.0	93.0					5																	112177570		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177570C>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6279C>T	5.37:g.112177570C>T		TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S2093S|APC_ENST00000257430.4_Silent_p.S2093S	p.S2093S			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6659	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2093			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.6279C>T	CCDS4107.1																																																																																				0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		34	65	0	0	0	1	0	34	65				
HCAR3	8843	broad.mit.edu	37	12	123200389	123200389	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123200389G>A	ENST00000528880.2	-	1	1050	c.896C>T	c.(895-897)cCa>cTa	p.P299L	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	299					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	GGGAAAGGATGGGCTGGAGAA	0.527																																						ENST00000528880.2																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(895-897)cCa>cTa		hydroxycarboxylic acid receptor 3	Mepenzolate(DB04843)|Niacin(DB00627)						20.0	27.0	25.0					12																	123200389		2130	4289	6419	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200389G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.896C>T	12.37:g.123200389G>A	ENSP00000436714:p.Pro299Leu					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.P299L	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN			1	1050	-			299					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.896C>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	18.42	3.619524	0.66787	.	.	ENSG00000255398	ENST00000528880	T	0.38560	1.13	3.26	3.26	0.37387	.	.	.	.	.	T	0.50205	0.1602	L	0.61218	1.895	0.58432	D	0.999993	D	0.59357	0.985	P	0.52598	0.703	T	0.54768	-0.8244	9	0.52906	T	0.07	.	12.3914	0.55360	0.0:0.0:1.0:0.0	.	299	E9PI97	.	L	299	ENSP00000436714:P299L	ENSP00000436714:P299L	P	-	2	0	HCAR3	121766342	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	5.779000	0.68948	1.514000	0.48869	0.184000	0.17185	CCA		0.527	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		26	16	0	0	0	1	0	26	16				
SALL3	27164	broad.mit.edu	37	18	76753296	76753296	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76753296C>T	ENST00000537592.2	+	2	1305	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	SALL3_ENST00000536229.3_Silent_p.L302L|SALL3_ENST00000575389.2_Silent_p.L435L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	435					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACAGCGCGCTCCAGATCCACC	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(904-906)ctC>ctT		spalt-like transcription factor 3							28.0	22.0	24.0					18																	76753296		2202	4298	6500	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753296C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1305C>T	18.37:g.76753296C>T						SALL3_ENST00000575389.2_Silent_p.L435L|SALL3_ENST00000537592.2_Silent_p.L435L	p.L302L			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1615	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	435					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.906C>T	CCDS12013.1																																																																																				0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	13	0	0	0	1	0	8	13				
FYB	2533	broad.mit.edu	37	5	39127891	39127891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39127891G>A	ENST00000351578.6	-	11	2049	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	FYB_ENST00000505428.1_Missense_Mutation_p.P620L|FYB_ENST00000540520.1_Missense_Mutation_p.P630L|FYB_ENST00000515010.1_Missense_Mutation_p.P620L|FYB_ENST00000512982.1_Missense_Mutation_p.P620L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	620	Poly-Pro.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTCATCATCTGGTGGTGGAGG	0.328																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1858-1860)cCa>cTa		FYN binding protein							108.0	101.0	103.0					5																	39127891		1839	4098	5937	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39127891G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1859C>T	5.37:g.39127891G>A	ENSP00000316460:p.Pro620Leu					FYB_ENST00000512982.1_Missense_Mutation_p.P620L|FYB_ENST00000540520.1_Missense_Mutation_p.P630L|FYB_ENST00000515010.1_Missense_Mutation_p.P620L|FYB_ENST00000505428.1_Missense_Mutation_p.P620L	p.P620L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		11	2049	-	all_lung(31;0.000343)		620			Poly-Pro.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1859C>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617638	0.46736	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.27256	1.68;1.68;1.72;1.72;1.74	5.56	4.64	0.57946	.	1.359770	0.04177	N	0.325763	T	0.51635	0.1686	M	0.75447	2.3	0.39960	D	0.974652	D;D	0.59767	0.986;0.986	P;P	0.56343	0.796;0.796	T	0.38156	-0.9674	10	0.59425	D	0.04	-8.1088	15.4475	0.75243	0.0:0.1376:0.8624:0.0	.	630;620	B4DLN2;O15117	.;FYB_HUMAN	L	620;620;620;620;630;620	ENSP00000316460:P620L;ENSP00000426346:P620L;ENSP00000425845:P620L;ENSP00000427114:P620L;ENSP00000442840:P630L	ENSP00000316460:P620L	P	-	2	0	FYB	39163648	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	3.366000	0.52343	2.780000	0.95670	0.585000	0.79938	CCA		0.328	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		6	10	0	0	0	1	0	6	10				
ANKFY1	51479	broad.mit.edu	37	17	4085590	4085590	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4085590G>A	ENST00000341657.4	-	15	2042	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	ANKFY1_ENST00000570535.1_Silent_p.L711L|ANKFY1_ENST00000573722.1_5'Flank|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L670L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	669	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CATCAACTACGAGTGGAAGCT	0.557																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2005-2007)ctC>ctT		ankyrin repeat and FYVE domain containing 1							133.0	133.0	133.0					17																	4085590		2016	4171	6187	SO:0001819	synonymous_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4085590G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2007C>T	17.37:g.4085590G>A						CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L670L|ANKFY1_ENST00000570535.1_Silent_p.L711L	p.L669L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			15	2042	-			669					A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37	c.2007C>T																																																																																					0.557	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		52	107	0	0	0	1	0	52	107				
CCDC160	347475	broad.mit.edu	37	X	133378999	133378999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:133378999G>A	ENST00000517294.1	+	3	552	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	57										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAGTTTCAGGAAGAAAGTAA	0.313																																						ENST00000517294.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						c.(169-171)Gaa>Aaa		coiled-coil domain containing 160							21.0	19.0	20.0					X																	133378999		1792	4050	5842	SO:0001583	missense	347475							g.chrX:133378999G>A	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.169G>A	X.37:g.133378999G>A	ENSP00000427951:p.Glu57Lys					CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K	p.E57K			A6NGH7	CC160_HUMAN			3	552	+			57						Missense_Mutation	SNP	ENST00000517294.1	37	c.169G>A	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101002	0.37048	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.16	4.29	0.51040	.	0.000000	0.53938	D	0.000054	T	0.41119	0.1145	L	0.32530	0.975	0.36241	D	0.853254	B	0.31413	0.322	B	0.31812	0.136	T	0.51865	-0.8651	9	0.87932	D	0	2.1892	9.2874	0.37766	0.1825:0.0:0.8175:0.0	.	57	A6NGH7	CC160_HUMAN	K	57	.	ENSP00000359845:E57K	E	+	1	0	CCDC160	133206665	1.000000	0.71417	0.307000	0.25127	0.023000	0.10783	2.080000	0.41586	1.065000	0.40693	0.594000	0.82650	GAA		0.313	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		11	9	0	0	0	1	0	11	9				
PDIA5	10954	broad.mit.edu	37	3	122808107	122808107	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122808107C>T	ENST00000316218.7	+	2	230	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	45					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTCAGAACCCGGAATAATG	0.527																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(133-135)acC>acT		protein disulfide isomerase family A, member 5							142.0	140.0	141.0					3																	122808107		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122808107C>T	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.135C>T	3.37:g.122808107C>T							p.T45T	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	2	230	+			45					D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.135C>T	CCDS3020.1																																																																																				0.527	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		40	74	0	0	0	1	0	40	74				
PALLD	23022	broad.mit.edu	37	4	169632828	169632828	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:169632828C>T	ENST00000505667.1	+	10	1891	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	PALLD_ENST00000335742.7_Missense_Mutation_p.S191F|PALLD_ENST00000261509.6_Missense_Mutation_p.S573F|PALLD_ENST00000512127.1_Missense_Mutation_p.S191F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	573					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GAGACAAGTTCCTTGGAGTTG	0.478									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(571-573)tCc>tTc		palladin, cytoskeletal associated protein							79.0	71.0	74.0					4																	169632828		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169632828C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1718C>T	4.37:g.169632828C>T	ENSP00000425556:p.Ser573Phe					PALLD_ENST00000512127.1_Missense_Mutation_p.S191F|PALLD_ENST00000505667.1_Missense_Mutation_p.S573F|PALLD_ENST00000261509.6_Missense_Mutation_p.S573F	p.S191F			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	10	1929	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	573					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.572C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073473	0.36566	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.64803	-0.11;-0.12;0.16;-0.06	5.81	5.81	0.92471	.	0.000000	0.31909	U	0.006868	T	0.67534	0.2903	L	0.57536	1.79	0.26041	N	0.981609	P;B;P	0.51933	0.612;0.145;0.949	B;B;P	0.49752	0.278;0.092;0.621	T	0.65676	-0.6110	10	0.59425	D	0.04	.	15.5514	0.76155	0.0:0.8627:0.1373:0.0	.	573;191;573	B7ZMM5;B3KTG2;B2RTX2	.;.;.	F	573;191;573;191	ENSP00000261509:S573F;ENSP00000336735:S191F;ENSP00000425556:S573F;ENSP00000426947:S191F	ENSP00000261509:S573F	S	+	2	0	PALLD	169869403	1.000000	0.71417	0.165000	0.22776	0.146000	0.21551	3.224000	0.51238	2.756000	0.94617	0.655000	0.94253	TCC		0.478	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		25	28	0	0	0	1	0	25	28				
DOT1L	84444	broad.mit.edu	37	19	2216629	2216629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2216629C>T	ENST00000398665.3	+	20	2309	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	758					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCCGGCCGCGCCTGGAG	0.677																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2272-2274)cCg>cTg		DOT1-like histone H3K79 methyltransferase							29.0	36.0	34.0					19																	2216629		2024	4119	6143	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216629C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2273C>T	19.37:g.2216629C>T	ENSP00000381657:p.Pro758Leu						p.P758L	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2309	+		Hepatocellular(1079;0.137)	758					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2273C>T	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.511|9.511	1.105719|1.105719	0.20632|0.20632	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482|ENST00000440640	T|.	0.23147|.	1.92|.	5.21|5.21	1.74|1.74	0.24563|0.24563	.|.	0.297616|.	0.37809|.	N|.	0.001928|.	T|T	0.51432|0.51432	0.1674|0.1674	L|L	0.44542|0.44542	1.39|1.39	0.39206|0.39206	D|D	0.963237|0.963237	B;B|.	0.30526|.	0.004;0.283|.	B;B|.	0.22152|.	0.001;0.038|.	T|T	0.44892|0.44892	-0.9298|-0.9298	10|5	0.87932|.	D|.	0|.	-10.4324|-10.4324	6.5883|6.5883	0.22632|0.22632	0.5228:0.3836:0.0:0.0935|0.5228:0.3836:0.0:0.0935	.|.	758;758|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	L|C	758|545	ENSP00000381657:P758L|.	ENSP00000221482:P758L|.	P|R	+|+	2|1	0|0	DOT1L|DOT1L	2167629|2167629	0.048000|0.048000	0.20356|0.20356	0.538000|0.538000	0.28064|0.28064	0.048000|0.048000	0.14542|0.14542	1.918000|1.918000	0.40006|0.40006	0.593000|0.593000	0.29745|0.29745	-0.824000|-0.824000	0.03097|0.03097	CCG|CGC		0.677	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		27	21	0	0	0	1	0	27	21				
SLITRK4	139065	broad.mit.edu	37	X	142718348	142718348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142718348G>A	ENST00000381779.4	-	2	802	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L193F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L193F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	193						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAAGGGAGCTTCTGGATT	0.418																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(577-579)Ctc>Ttc		SLIT and NTRK-like family, member 4							78.0	75.0	76.0					X																	142718348		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718348G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.577C>T	X.37:g.142718348G>A	ENSP00000371198:p.Leu193Phe					SLITRK4_ENST00000338017.4_Missense_Mutation_p.L193F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L193F	p.L193F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	802	-	Acute lymphoblastic leukemia(192;6.56e-05)		193					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.577C>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774356	0.49786	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.58060	0.36;0.36;0.36	5.59	3.76	0.43208	.	0.072844	0.56097	D	0.000024	T	0.61098	0.2320	M	0.81239	2.535	0.53688	D	0.999975	P	0.42337	0.776	P	0.51170	0.661	T	0.62779	-0.6782	10	0.62326	D	0.03	-7.6516	4.8825	0.13686	0.0833:0.1428:0.6241:0.1499	.	193	Q8IW52	SLIK4_HUMAN	F	193	ENSP00000371198:L193F;ENSP00000349400:L193F;ENSP00000336627:L193F	ENSP00000336627:L193F	L	-	1	0	SLITRK4	142546014	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.637000	0.67854	1.086000	0.41228	0.600000	0.82982	CTC		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		47	71	0	0	0	1	0	47	71				
PTCHD4	442213	broad.mit.edu	37	6	47846284	47846284	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:47846284A>G	ENST00000339488.4	-	3	2329	c.2296T>C	c.(2296-2298)Ttt>Ctt	p.F766L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	766						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CCAATAAGAAAAGAAGTAACA	0.443																																						ENST00000339488.4																			0											c.(2296-2298)Ttt>Ctt		patched domain containing 4							74.0	72.0	73.0					6																	47846284		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846284A>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2296T>C	6.37:g.47846284A>G	ENSP00000341914:p.Phe766Leu						p.F766L	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2329	-			766					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2296T>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	15.75	2.925342	0.52759	.	.	ENSG00000244694	ENST00000339488	D	0.85088	-1.94	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	L	0.51422	1.61	0.80722	D	1	B	0.21905	0.062	B	0.31245	0.126	T	0.77294	-0.2641	10	0.52906	T	0.07	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	766	Q6ZW05	CF138_HUMAN	L	766	ENSP00000341914:F766L	ENSP00000341914:F766L	F	-	1	0	C6orf138	47954243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.963000	0.76055	2.307000	0.77673	0.528000	0.53228	TTT		0.443	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		14	12	0	0	0	1	0	14	12				
SLC35G3	146861	broad.mit.edu	37	17	33520508	33520508	+	Silent	SNP	C	C	T	rs530925246		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:33520508C>T	ENST00000297307.5	-	1	904	c.819G>A	c.(817-819)gcG>gcA	p.A273A	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	273	EamA 2.					integral component of membrane (GO:0016021)											CCTTGGTGACCGCATAGCCCA	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19425	0.0		0.0	False		,,,				2504	0.0					ENST00000297307.5																			0											c.(817-819)gcG>gcA		solute carrier family 35, member G3							155.0	140.0	145.0					17																	33520508		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520508C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.819G>A	17.37:g.33520508C>T							p.A273A	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	904	-			273			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.819G>A	CCDS11293.1																																																																																				0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		52	103	0	0	0	1	0	52	103				
TDRD1	56165	broad.mit.edu	37	10	115973130	115973130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115973130G>A	ENST00000369280.1	+	15	2317	c.1857G>A	c.(1855-1857)tgG>tgA	p.W619*	TDRD1_ENST00000422662.1_Nonsense_Mutation_p.W223*|TDRD1_ENST00000251864.2_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.W562*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W619*			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	619					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAGGAATTTGGACTCCAGAAG	0.353																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1855-1857)tgG>tgA		tudor domain containing 1							65.0	67.0	67.0					10																	115973130		2203	4300	6503	SO:0001587	stop_gained	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115973130G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1857G>A	10.37:g.115973130G>A	ENSP00000358286:p.Trp619*					TDRD1_ENST00000369280.1_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.W562*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.W223*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W619*	p.W619*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	15	2010	+		Colorectal(252;0.172)|Breast(234;0.188)	619					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	37	c.1857G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.894732	0.98548	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.77	5.77	0.91146	.	0.134432	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7499	18.1638	0.89718	0.0:0.0:1.0:0.0	.	.	.	.	X	619;619;562;223;619	.	ENSP00000251864:W619X	W	+	3	0	TDRD1	115963120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.494000	0.81503	2.709000	0.92574	0.643000	0.83706	TGG		0.353	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			27	52	0	0	0	1	0	27	52				
KLHL10	317719	broad.mit.edu	37	17	39994346	39994346	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39994346G>A	ENST00000293303.4	+	1	315	c.162G>A	c.(160-162)aaG>aaA	p.K54K	NT5C3B_ENST00000435506.2_5'Flank|NT5C3B_ENST00000521789.1_5'Flank|NT5C3B_ENST00000269534.8_5'Flank|RN7SL871P_ENST00000583512.1_RNA|KLHL10_ENST00000485613.1_Intron	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	54	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GTGCCCATAAGAACATCCTCT	0.468																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(160-162)aaG>aaA		kelch-like family member 10							159.0	156.0	157.0					17																	39994346		2029	4175	6204	SO:0001819	synonymous_variant	317719					cytoplasm		g.chr17:39994346G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.162G>A	17.37:g.39994346G>A						KLHL10_ENST00000485613.1_Intron	p.K54K	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			1	315	+		Breast(137;0.000162)	54			BTB.		Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	c.162G>A	CCDS42340.1																																																																																				0.468	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		25	41	0	0	0	1	0	25	41				
NBAS	51594	broad.mit.edu	37	2	15555680	15555680	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15555680G>A	ENST00000281513.5	-	25	2952	c.2927C>T	c.(2926-2928)tCc>tTc	p.S976F	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	976					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATCTGGTTTGGAATGCTGAAA	0.343																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2926-2928)tCc>tTc		neuroblastoma amplified sequence							55.0	61.0	59.0					2																	15555680		2203	4299	6502	SO:0001583	missense	51594							g.chr2:15555680G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2927C>T	2.37:g.15555680G>A	ENSP00000281513:p.Ser976Phe					NBAS_ENST00000441750.1_Intron	p.S976F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2952	-			976					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2927C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307981	0.60305	.	.	ENSG00000151779	ENST00000281513	T	0.20463	2.07	6.17	6.17	0.99709	Secretory pathway Sec39 (1);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.44605	-0.9317	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	976	A2RRP1	NBAS_HUMAN	F	976	ENSP00000281513:S976F	ENSP00000281513:S976F	S	-	2	0	NBAS	15473131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.320000	0.96346	2.941000	0.99782	0.655000	0.94253	TCC		0.343	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		19	41	0	0	0	1	0	19	41				
FARP1	10160	broad.mit.edu	37	13	99043110	99043110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:99043110G>A	ENST00000319562.6	+	11	1329	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	FARP1_ENST00000376586.2_Missense_Mutation_p.G355E|FARP1_ENST00000595437.1_Missense_Mutation_p.G355E	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	355					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)			AAAGAAGGAGGACATAAGAAG	0.443																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1063-1065)gGa>gAa		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							162.0	147.0	152.0					13																	99043110		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.chr13:99043110G>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.1064G>A	13.37:g.99043110G>A	ENSP00000322926:p.Gly355Glu					FARP1_ENST00000319562.6_Missense_Mutation_p.G355E|FARP1_ENST00000595437.1_Missense_Mutation_p.G355E	p.G355E			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		11	1400	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		355					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1064G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981976	0.53827	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	D;D	0.86097	-2.07;-2.07	5.66	5.66	0.87406	FERM adjacent (FA) (1);	0.052356	0.85682	D	0.000000	D	0.83547	0.5278	N	0.02973	-0.45	0.58432	D	0.999998	D;B	0.71674	0.998;0.014	D;B	0.69824	0.966;0.022	D	0.88261	0.2923	10	0.56958	D	0.05	.	19.7365	0.96208	0.0:0.0:1.0:0.0	.	355;355	Q9Y4F1;C9JME2	FARP1_HUMAN;.	E	355;60;355	ENSP00000365771:G355E;ENSP00000322926:G355E	ENSP00000322926:G355E	G	+	2	0	FARP1	97841111	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.079000	0.71291	2.672000	0.90937	0.655000	0.94253	GGA		0.443	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		34	50	0	0	0	1	0	34	50				
DOK5	55816	broad.mit.edu	37	20	53208341	53208341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:53208341G>A	ENST00000262593.5	+	5	946	c.596G>A	c.(595-597)gGg>gAg	p.G199E	DOK5_ENST00000395939.1_Missense_Mutation_p.G91E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	199	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTGAGGCAGGGAGGTGAGTT	0.458																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(595-597)gGg>gAg		docking protein 5							109.0	94.0	99.0					20																	53208341		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53208341G>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.596G>A	20.37:g.53208341G>A	ENSP00000262593:p.Gly199Glu					DOK5_ENST00000395939.1_Missense_Mutation_p.G91E	p.G199E	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		5	946	+			199			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.596G>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917497	0.92249	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.97598	-4.45;-4.45	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.965;1.0	D	0.99338	1.0911	10	0.72032	D	0.01	-8.1638	18.3134	0.90208	0.0:0.0:1.0:0.0	.	91;199	Q9P104-2;Q9P104	.;DOK5_HUMAN	E	199;91	ENSP00000262593:G199E;ENSP00000379270:G91E	ENSP00000262593:G199E	G	+	2	0	DOK5	52641748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.795000	0.99099	2.668000	0.90789	0.650000	0.86243	GGG		0.458	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			15	42	0	0	0	1	0	15	42				
UBBP4	23666	broad.mit.edu	37	17	21731267	21731267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:21731267C>T	ENST00000584755.1	+	2	966	c.569C>T	c.(568-570)cCg>cTg	p.P190L	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.P190R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCGATCAGCAGA	0.547																																						ENST00000584755.1																			1	Substitution - Missense(1)	p.P190R(1)	lung(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(568-570)cCg>cTg																																						SO:0001583	missense	23666							g.chr17:21731267C>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.569C>T	17.37:g.21731267C>T	ENSP00000463647:p.Pro190Leu					UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR	p.P190L							2	966	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.569C>T																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			23	41	0	0	0	1	0	23	41				
LRP1B	53353	broad.mit.edu	37	2	141243018	141243018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141243018C>T	ENST00000389484.3	-	59	10290	c.9319G>A	c.(9319-9321)Gaa>Aaa	p.E3107K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3107					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTCTTTTTTCTGTGTCAGAC	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9319-9321)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							146.0	138.0	141.0					2																	141243018		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243018C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9319G>A	2.37:g.141243018C>T	ENSP00000374135:p.Glu3107Lys	TSP Lung(27;0.18)					p.E3107K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	59	10290	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3107					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9319G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600479	0.66332	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93488	-3.23	5.44	4.56	0.56223	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.46567	1.45	0.49213	D	0.999766	B	0.21606	0.058	B	0.23275	0.045	D	0.85887	0.1426	10	0.13470	T	0.59	.	15.9002	0.79369	0.1366:0.8634:0.0:0.0	.	3107	Q9NZR2	LRP1B_HUMAN	K	3107;3045	ENSP00000374135:E3107K	ENSP00000374135:E3107K	E	-	1	0	LRP1B	140959488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.501000	0.81600	1.404000	0.46819	0.655000	0.94253	GAA		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		18	41	0	0	0	1	0	18	41				
A2M	2	broad.mit.edu	37	12	9246163	9246163	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:9246163A>T	ENST00000318602.7	-	18	2445	c.2138T>A	c.(2137-2139)aTg>aAg	p.M713K		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	713	Bait region.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GCCTCTTCCCATTACATCTGA	0.433																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(2137-2139)aTg>aAg		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						75.0	68.0	70.0					12																	9246163		1898	4122	6020	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9246163A>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2138T>A	12.37:g.9246163A>T	ENSP00000323929:p.Met713Lys						p.M713K	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			18	2445	-			713			Bait region.		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2138T>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	6.792	0.515188	0.12944	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.27720	1.65	4.17	2.96	0.34315	.	10.639900	0.00166	N	0.000000	T	0.33990	0.0882	L	0.59436	1.845	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.21381	-1.0247	10	0.27082	T	0.32	.	8.7932	0.34863	0.8088:0.1912:0.0:0.0	.	713	P01023	A2MG_HUMAN	K	713;728	ENSP00000323929:M713K	ENSP00000323929:M713K	M	-	2	0	A2M	9137430	0.022000	0.18835	0.002000	0.10522	0.012000	0.07955	1.693000	0.37742	0.679000	0.31345	0.460000	0.39030	ATG		0.433	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		8	10	0	0	0	1	0	8	10				
RAI1	10743	broad.mit.edu	37	17	17701185	17701185	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17701185C>T	ENST00000353383.1	+	3	5392	c.4923C>T	c.(4921-4923)tcC>tcT	p.S1641S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1641	Ser-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		cctcgttctcctTGGATGCAG	0.647																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(4921-4923)tcC>tcT		retinoic acid induced 1							77.0	85.0	83.0					17																	17701185		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701185C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4923C>T	17.37:g.17701185C>T						RAI1_ENST00000261641.6_Intron	p.S1641S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5392	+			1641			Ser-rich.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4923C>T	CCDS11188.1																																																																																				0.647	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		22	37	0	0	0	1	0	22	37				
POU2F1	5451	broad.mit.edu	37	1	167368547	167368547	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167368547G>A	ENST00000541643.3	+	13	1487	c.1325G>A	c.(1324-1326)aGt>aAt	p.S442N	POU2F1_ENST00000420254.3_Missense_Mutation_p.S442N|POU2F1_ENST00000367862.5_Missense_Mutation_p.S454N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S402N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.S465N			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	442					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCACCAAGCAGTGGTGGGACC	0.433																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1360-1362)aGt>aAt		POU class 2 homeobox 1							87.0	92.0	90.0					1																	167368547		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167368547G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1325G>A	1.37:g.167368547G>A	ENSP00000441285:p.Ser442Asn					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.S442N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S442N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S402N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S465N	p.S454N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			12	1596	+			442					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1361G>A		.	.	.	.	.	.	.	.	.	.	G	18.32	3.597080	0.66332	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.86366	-2.11;-2.1;-2.1;-2.11;-2.1;-2.1;-2.02	6.17	6.17	0.99709	.	0.224744	0.64402	D	0.000011	T	0.72740	0.3498	N	0.14661	0.345	0.46131	D	0.998887	B;B;B;B;B	0.21606	0.014;0.002;0.023;0.058;0.014	B;B;B;B;B	0.18561	0.007;0.003;0.015;0.022;0.004	T	0.66803	-0.5831	10	0.39692	T	0.17	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	402;442;454;440;442	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	N	465;402;440;442;442;454;350	ENSP00000356840:S465N;ENSP00000401217:S402N;ENSP00000356839:S440N;ENSP00000414660:S442N;ENSP00000441285:S442N;ENSP00000356836:S454N;ENSP00000415993:S350N	ENSP00000356836:S454N	S	+	2	0	POU2F1	165635171	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.586000	0.67503	2.941000	0.99782	0.655000	0.94253	AGT		0.433	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		48	51	0	0	0	1	0	48	51				
ARMC7	79637	broad.mit.edu	37	17	73125084	73125084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73125084C>T	ENST00000245543.1	+	3	850	c.548C>T	c.(547-549)tCt>tTt	p.S183F	NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	183						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGCGCACTCTGCCCTGGGT	0.697																																						ENST00000245543.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(547-549)tCt>tTt		armadillo repeat containing 7							15.0	15.0	15.0					17																	73125084		2195	4272	6467	SO:0001583	missense	79637						binding	g.chr17:73125084C>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.548C>T	17.37:g.73125084C>T	ENSP00000245543:p.Ser183Phe					ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	p.S183F	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	850	+	all_lung(278;0.14)|Lung NSC(278;0.168)		183					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.548C>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826571	0.71143	.	.	ENSG00000125449	ENST00000245543	T	0.65732	-0.17	5.18	5.18	0.71444	.	0.185974	0.46145	D	0.000304	T	0.61438	0.2347	L	0.43152	1.355	0.80722	D	1	P	0.40398	0.716	B	0.41764	0.366	T	0.66752	-0.5844	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	183	Q9H6L4	ARMC7_HUMAN	F	183	ENSP00000245543:S183F	ENSP00000245543:S183F	S	+	2	0	ARMC7	70636679	0.995000	0.38212	0.977000	0.42913	0.899000	0.52679	3.246000	0.51414	2.595000	0.87683	0.655000	0.94253	TCT		0.697	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		21	13	0	0	0	1	0	21	13				
PPP6R3	55291	broad.mit.edu	37	11	68367938	68367938	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68367938T>A	ENST00000393800.2	+	20	2422	c.2168T>A	c.(2167-2169)tTt>tAt	p.F723Y	PPP6R3_ENST00000534534.1_Missense_Mutation_p.F491Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.F694Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.F643Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.F723Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.F723Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.F717Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.F688Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.F677Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.F643Y	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	723					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGGCTTCTTTTTCAGAGTTC	0.537																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2167-2169)tTt>tAt		protein phosphatase 6, regulatory subunit 3							131.0	113.0	119.0					11																	68367938		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68367938T>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2168T>A	11.37:g.68367938T>A	ENSP00000377389:p.Phe723Tyr					PPP6R3_ENST00000524845.1_Missense_Mutation_p.F694Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.F723Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.F643Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.F677Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.F723Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.F491Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.F643Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.F688Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.F717Y	p.F723Y			Q5H9R7	PP6R3_HUMAN			20	2435	+			723					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2168T>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.011504	0.54468	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.56	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	L	0.57536	1.79	0.31884	N	0.618052	D;D;D;D;D;D;D;D	0.89917	0.998;0.981;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.995;0.931;0.996;0.997;0.996;0.991;0.996;0.999	T	0.68127	-0.5491	10	0.44086	T	0.13	.	11.7748	0.51979	0.1318:0.0:0.0:0.8682	.	406;491;643;694;717;723;723;643	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	Y	723;723;491;694;677;717;723;643;643;688;430	ENSP00000377388:F723Y;ENSP00000377389:F723Y;ENSP00000434429:F491Y;ENSP00000431415:F694Y;ENSP00000265637:F677Y;ENSP00000433058:F717Y;ENSP00000377390:F723Y;ENSP00000265636:F643Y;ENSP00000437329:F643Y;ENSP00000433565:F688Y;ENSP00000436209:F430Y	ENSP00000265636:F643Y	F	+	2	0	PPP6R3	68124514	1.000000	0.71417	0.028000	0.17463	0.342000	0.28953	5.384000	0.66225	0.906000	0.36621	0.533000	0.62120	TTT		0.537	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		17	31	0	0	0	1	0	17	31				
SIX3	6496	broad.mit.edu	37	2	45169576	45169576	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169576C>T	ENST00000260653.3	+	1	675	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	111	Interaction with AES. {ECO:0000250|UniProtKB:Q62233}.				brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGGCCGCTTCCTCTGGTCGC	0.692																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(331-333)ttC>ttT		SIX homeobox 3							10.0	12.0	12.0					2																	45169576		1930	3980	5910	SO:0001819	synonymous_variant	6496				visual perception	nucleus		g.chr2:45169576C>T	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.333C>T	2.37:g.45169576C>T							p.F111F	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	675	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	111					D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	c.333C>T	CCDS1821.1																																																																																				0.692	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		10	21	0	0	0	1	0	10	21				
PHF13	148479	broad.mit.edu	37	1	6680239	6680239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680239C>T	ENST00000377648.4	+	3	900	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGGACTCCGATACTCCC	0.587																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(517-519)tCc>tTc		PHD finger protein 13							33.0	37.0	36.0					1																	6680239		2203	4300	6503	SO:0001583	missense	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680239C>T	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.518C>T	1.37:g.6680239C>T	ENSP00000366876:p.Ser173Phe					PHF13_ENST00000495385.1_Intron	p.S173F	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	900	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	173					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	ENST00000377648.4	37	c.518C>T	CCDS85.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629774	0.67015	.	.	ENSG00000116273	ENST00000377648	T	0.49432	0.78	5.77	4.85	0.62838	.	0.199278	0.45867	D	0.000328	T	0.40498	0.1119	L	0.54323	1.7	0.58432	D	0.999995	P	0.41947	0.766	B	0.30029	0.11	T	0.46816	-0.9164	10	0.66056	D	0.02	-3.7384	15.3407	0.74293	0.1405:0.8595:0.0:0.0	.	173	Q86YI8	PHF13_HUMAN	F	173	ENSP00000366876:S173F	ENSP00000366876:S173F	S	+	2	0	PHF13	6602826	0.999000	0.42202	0.906000	0.35671	0.539000	0.34962	4.305000	0.59110	1.424000	0.47217	0.561000	0.74099	TCC		0.587	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	23	0	0	0	1	0	11	23				
EGFLAM	133584	broad.mit.edu	37	5	38370429	38370429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38370429C>T	ENST00000354891.3	+	6	923	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	EGFLAM_ENST00000322350.5_Missense_Mutation_p.H193Y	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	193	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCTCAATCCATGAGCGGAT	0.493																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(577-579)Cat>Tat		EGF-like, fibronectin type III and laminin G domains							97.0	92.0	93.0					5																	38370429		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370429C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.577C>T	5.37:g.38370429C>T	ENSP00000346964:p.His193Tyr					EGFLAM_ENST00000354891.3_Missense_Mutation_p.H193Y	p.H193Y	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			6	923	+	all_lung(31;0.000385)		193			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.577C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483061	0.44147	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57273	0.41;0.41	5.82	2.75	0.32379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.440505	0.25747	N	0.028569	T	0.35595	0.0937	N	0.16201	0.385	0.80722	D	1	B;B	0.25048	0.117;0.096	B;B	0.32090	0.14;0.086	T	0.15178	-1.0446	10	0.66056	D	0.02	-10.0523	8.1893	0.31359	0.3026:0.5106:0.1868:0.0	.	193;193	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	Y	193	ENSP00000346964:H193Y;ENSP00000313084:H193Y	ENSP00000313084:H193Y	H	+	1	0	EGFLAM	38406186	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	2.697000	0.47060	0.304000	0.22809	0.561000	0.74099	CAT		0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		20	31	0	0	0	1	0	20	31				
XIRP2	129446	broad.mit.edu	37	2	168100278	168100278	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100278C>T	ENST00000409195.1	+	9	2465	c.2376C>T	c.(2374-2376)gtC>gtT	p.V792V	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V570V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V792V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	617					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAAAGTTGTCCGAGGAATAT	0.408																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2374-2376)gtC>gtT		xin actin-binding repeat containing 2							71.0	68.0	69.0					2																	168100278		1851	4091	5942	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100278C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2376C>T	2.37:g.168100278C>T						XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V792V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V570V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	p.V792V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2465	+			617					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2376C>T	CCDS42769.1																																																																																				0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	47	0	0	0	1	0	24	47				
ZMIZ1	57178	broad.mit.edu	37	10	81049555	81049555	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81049555C>T	ENST00000334512.5	+	9	1021	c.449C>T	c.(448-450)tCt>tTt	p.S150F	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	150					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCTATGACTCTGTCCCTTGG	0.602																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(448-450)tCt>tTt		zinc finger, MIZ-type containing 1							163.0	127.0	139.0					10																	81049555		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81049555C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.449C>T	10.37:g.81049555C>T	ENSP00000334474:p.Ser150Phe					ZMIZ1_ENST00000478357.1_3'UTR	p.S150F	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		9	1021	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		150					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.449C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534471	0.85812	.	.	ENSG00000108175	ENST00000334512;ENST00000394592;ENST00000360331;ENST00000372347	D	0.97352	-4.35	5.41	5.41	0.78517	.	0.000000	0.41500	D	0.000868	D	0.98033	0.9352	M	0.70275	2.135	0.80722	D	1	D;D	0.59767	0.986;0.967	P;P	0.61275	0.858;0.886	D	0.98886	1.0771	10	0.87932	D	0	-1.0912	19.1887	0.93654	0.0:1.0:0.0:0.0	.	60;150	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	F	150;150;80;64	ENSP00000334474:S150F	ENSP00000334474:S150F	S	+	2	0	ZMIZ1	80719561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.641000	0.67881	2.529000	0.85273	0.563000	0.77884	TCT		0.602	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		30	61	0	0	0	1	0	30	61				
FABP1	2168	broad.mit.edu	37	2	88425817	88425817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88425817C>T	ENST00000295834.3	-	2	216	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_Missense_Mutation_p.E40K	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	40					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGCACGATTTCCGACACCCCC	0.527																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(118-120)Gaa>Aaa		fatty acid binding protein 1, liver							311.0	259.0	276.0					2																	88425817		2203	4300	6503	SO:0001583	missense	2168				organ morphogenesis			g.chr2:88425817C>T	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.118G>A	2.37:g.88425817C>T	ENSP00000295834:p.Glu40Lys					FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E40K	p.E40K			P07148	FABPL_HUMAN			2	149	-			40						Missense_Mutation	SNP	ENST00000295834.3	37	c.118G>A	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203359	0.95033	.	.	ENSG00000163586	ENST00000295834;ENST00000393750	T;T	0.20200	2.09;2.09	5.81	5.81	0.92471	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.60265	-0.7297	10	0.87932	D	0	.	18.7029	0.91627	0.0:1.0:0.0:0.0	.	40;40	A8MW49;P07148	.;FABPL_HUMAN	K	40	ENSP00000295834:E40K;ENSP00000377351:E40K	ENSP00000295834:E40K	E	-	1	0	FABP1	88206932	1.000000	0.71417	0.222000	0.23844	0.804000	0.45430	7.094000	0.76944	2.765000	0.95021	0.558000	0.71614	GAA		0.527	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		86	159	0	0	0	1	0	86	159				
FRMPD3	84443	broad.mit.edu	37	X	106808122	106808122	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:106808122G>A	ENST00000276185.4	+	13	1221	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	407	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACCAGGATGAGAAGCAGTCGG	0.557																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(1219-1221)gaG>gaA		FERM and PDZ domain containing 3							197.0	175.0	182.0					X																	106808122		876	1991	2867	SO:0001819	synonymous_variant	84443					cytoskeleton		g.chrX:106808122G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1221G>A	X.37:g.106808122G>A							p.E407E			Q5JV73	FRPD3_HUMAN			13	1221	+			407			FERM.		Q96JK8	Silent	SNP	ENST00000276185.4	37	c.1221G>A																																																																																					0.557	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		93	114	0	0	0	1	0	93	114				
MT1X	4501	broad.mit.edu	37	16	56717159	56717159	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:56717159C>T	ENST00000394485.4	+	2	211				MT1X_ENST00000562939.1_Silent_p.F37F|RP11-343H19.2_ENST00000567563.1_RNA	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X						cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(2)	2						GCAGGGCCTTCCCTGCGAATC	0.572																																						ENST00000562939.1																			0				kidney(2)	2						c.(109-111)ttC>ttT		metallothionein 1X							57.0	52.0	54.0					16																	56717159		2198	4300	6498	SO:0001627	intron_variant	4501				response to metal ion		metal ion binding	g.chr16:56717159C>T	BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"""Metallothioneins"""	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	ENST00000394485.4:c.94+17C>T	16.37:g.56717159C>T						RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000394485.4_Intron	p.F37F			P80297	MT1X_HUMAN			2	182	+			37			Alpha.		A8MUC7	Silent	SNP	ENST00000394485.4	37	c.111C>T	CCDS10768.1																																																																																				0.572	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1	NM_005952		29	22	0	0	0	1	0	29	22				
DACT1	51339	broad.mit.edu	37	14	59113391	59113391	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:59113391G>A	ENST00000335867.4	+	4	2074	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	DACT1_ENST00000541264.2_Missense_Mutation_p.E403K|DACT1_ENST00000395153.3_Missense_Mutation_p.E647K|DACT1_ENST00000556859.1_Missense_Mutation_p.E403K			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	684					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTCCTCGGCCGAGATTTCCTA	0.692																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(1939-1941)Gag>Aag		dishevelled-binding antagonist of beta-catenin 1							13.0	15.0	14.0					14																	59113391		2176	4271	6447	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113391G>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2050G>A	14.37:g.59113391G>A	ENSP00000337439:p.Glu684Lys					DACT1_ENST00000395151.3_Missense_Mutation_p.E403K|DACT1_ENST00000556859.1_Missense_Mutation_p.E403K|DACT1_ENST00000541264.2_Missense_Mutation_p.E403K|DACT1_ENST00000335867.4_Missense_Mutation_p.E684K	p.E647K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2086	+			684					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1939G>A	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116367	0.77323	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.82823	2.61	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.82188	-0.0581	10	0.87932	D	0	-26.704	15.7626	0.78096	0.0:0.0:0.8625:0.1375	.	647;684	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	K	403;403;647;684;403	ENSP00000451598:E403K;ENSP00000378581:E403K;ENSP00000378582:E647K;ENSP00000337439:E684K;ENSP00000442850:E403K	ENSP00000337439:E684K	E	+	1	0	DACT1	58183144	1.000000	0.71417	0.196000	0.23383	0.593000	0.36681	7.014000	0.76380	1.338000	0.45544	0.563000	0.77884	GAG		0.692	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		12	23	0	0	0	1	0	12	23				
ZNF347	84671	broad.mit.edu	37	19	53643936	53643936	+	Silent	SNP	C	C	T	rs186503642	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53643936C>T	ENST00000334197.7	-	5	2213	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ZNF347_ENST00000601469.2_Silent_p.G716G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G716G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	715					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAAAGGCTTTCCCACACTGAT	0.423																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2146-2148)ggG>ggA		zinc finger protein 347							159.0	149.0	152.0					19																	53643936		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643936C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2145G>A	19.37:g.53643936C>T						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G716G|ZNF347_ENST00000334197.7_Silent_p.G715G	p.G716G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2574	-			715					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.2148G>A	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		47	87	0	0	0	1	0	47	87				
HPS5	11234	broad.mit.edu	37	11	18327005	18327005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18327005G>A	ENST00000349215.3	-	8	1137	c.860C>T	c.(859-861)tCc>tTc	p.S287F	HPS5_ENST00000438420.2_Missense_Mutation_p.S173F|HPS5_ENST00000531848.1_Missense_Mutation_p.S173F|HPS5_ENST00000396253.3_Missense_Mutation_p.S173F	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	287					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAAAGACTGGGAGGATCCAGC	0.338									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(517-519)tCc>tTc		Hermansky-Pudlak syndrome 5							95.0	92.0	93.0					11																	18327005		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18327005G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.860C>T	11.37:g.18327005G>A	ENSP00000265967:p.Ser287Phe					HPS5_ENST00000438420.2_Missense_Mutation_p.S173F|HPS5_ENST00000349215.3_Missense_Mutation_p.S287F|HPS5_ENST00000531848.1_Missense_Mutation_p.S173F	p.S173F	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			7	980	-			287					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.518C>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016970	0.35606	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.56776	0.44;0.44;0.44;1.45	5.67	2.67	0.31697	.	0.514918	0.23541	N	0.047072	T	0.45216	0.1331	L	0.58101	1.795	0.18873	N	0.999982	B	0.33919	0.432	B	0.33620	0.167	T	0.40627	-0.9553	10	0.52906	T	0.07	.	7.5778	0.27946	0.0687:0.1222:0.6828:0.1263	.	287	Q9UPZ3	HPS5_HUMAN	F	173;173;287;173	ENSP00000379552:S173F;ENSP00000399590:S173F;ENSP00000265967:S287F;ENSP00000431758:S173F	ENSP00000265967:S287F	S	-	2	0	HPS5	18283581	0.833000	0.29383	0.969000	0.41365	0.922000	0.55478	1.912000	0.39946	0.821000	0.34540	0.585000	0.79938	TCC		0.338	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		18	39	0	0	0	1	0	18	39				
UTRN	7402	broad.mit.edu	37	6	145093100	145093100	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:145093100C>T	ENST00000367545.3	+	58	8553	c.8553C>T	c.(8551-8553)tcC>tcT	p.S2851S	UTRN_ENST00000367526.4_Silent_p.S406S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2851	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTTCAATCCCTTGGTAAGT	0.274																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8551-8553)tcC>tcT		utrophin							63.0	69.0	67.0					6																	145093100		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093100C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8553C>T	6.37:g.145093100C>T						UTRN_ENST00000367526.4_Silent_p.S406S	p.S2851S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8553	+		Ovarian(120;0.218)	2851			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8553C>T	CCDS34547.1																																																																																				0.274	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	54	0	0	0	1	0	5	54				
IL6ST	3572	broad.mit.edu	37	5	55253116	55253116	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:55253116G>A	ENST00000381298.2	-	9	1289	c.977C>T	c.(976-978)cCa>cTa	p.P326L	IL6ST_ENST00000502326.3_Missense_Mutation_p.P326L|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.P326L|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	326					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTAGATGGTCCTAAAGA	0.303			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(976-978)cCa>cTa		interleukin 6 signal transducer (gp130, oncostatin M receptor)							76.0	81.0	80.0					5																	55253116		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55253116G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.977C>T	5.37:g.55253116G>A	ENSP00000370698:p.Pro326Leu					IL6ST_ENST00000336909.5_Missense_Mutation_p.P326L|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Intron	p.P326L	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			9	1289	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	326			Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.977C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398908	0.83120	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	D;D;D	0.85088	-1.94;-1.94;-1.94	5.15	5.15	0.70609	Fibronectin, type III (2);	0.105137	0.64402	D	0.000003	D	0.93109	0.7806	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;0.98;1.0	D;P;D	0.79108	0.992;0.634;0.992	D	0.94054	0.7320	10	0.87932	D	0	.	17.9689	0.89107	0.0:0.0:1.0:0.0	.	326;326;326	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	L	326	ENSP00000370698:P326L;ENSP00000338799:P326L;ENSP00000370694:P326L	ENSP00000338799:P326L	P	-	2	0	IL6ST	55288873	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.431000	0.73395	2.533000	0.85409	0.585000	0.79938	CCA		0.303	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		29	50	0	0	0	1	0	29	50				
OSBPL3	26031	broad.mit.edu	37	7	24902874	24902874	+	Missense_Mutation	SNP	G	G	A	rs374921777		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:24902874G>A	ENST00000313367.2	-	9	1266	c.815C>T	c.(814-816)tCg>tTg	p.S272L	OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	272					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCTCCTGTGCGATCTTTTTTC	0.458																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(814-816)tCg>tTg		oxysterol binding protein-like 3							122.0	107.0	112.0					7																	24902874		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24902874G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.815C>T	7.37:g.24902874G>A	ENSP00000315410:p.Ser272Leu					OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron	p.S272L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			9	1266	-			272					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.815C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	9.822	1.186173	0.21870	.	.	ENSG00000070882	ENST00000313367;ENST00000353930;ENST00000396429	T;T;T	0.40476	2.31;1.03;1.03	5.87	5.87	0.94306	.	0.484249	0.22185	N	0.063453	T	0.24160	0.0585	N	0.11427	0.14	0.42541	D	0.993075	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.12889	-1.0530	10	0.15499	T	0.54	-2.7747	13.419	0.60985	0.0714:0.0:0.9286:0.0	.	272;272;272	Q9H4L5-7;Q9H4L5-3;Q9H4L5	.;.;OSBL3_HUMAN	L	272	ENSP00000315410:S272L;ENSP00000315277:S272L;ENSP00000379706:S272L	ENSP00000315410:S272L	S	-	2	0	OSBPL3	24869399	0.619000	0.27059	0.908000	0.35775	0.805000	0.45488	2.892000	0.48625	2.780000	0.95670	0.655000	0.94253	TCG		0.458	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			36	48	0	0	0	1	0	36	48				
SYCP1	6847	broad.mit.edu	37	1	115430287	115430287	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115430287G>A	ENST00000369522.3	+	15	1471	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E411K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	411					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTACCATGGAGCTTCAAAA	0.249																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1231-1233)Gag>Aag		synaptonemal complex protein 1							45.0	51.0	49.0					1																	115430287		2190	4263	6453	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115430287G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1231G>A	1.37:g.115430287G>A	ENSP00000358535:p.Glu411Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.E411K	p.E411K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	1471	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	411					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1231G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238252	0.39598	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56103	0.48;0.48;0.48	5.04	2.09	0.27110	.	0.479499	0.23060	N	0.052384	T	0.21761	0.0524	L	0.41824	1.3	0.35773	D	0.821059	B;B	0.18310	0.027;0.027	B;B	0.24006	0.05;0.05	T	0.03315	-1.1049	10	0.48119	T	0.1	-2.6379	5.3628	0.16098	0.1843:0.1656:0.6501:0.0	.	411;411	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	411	ENSP00000358535:E411K;ENSP00000410011:E411K;ENSP00000358531:E411K	ENSP00000358531:E411K	E	+	1	0	SYCP1	115231810	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.662000	0.37418	0.154000	0.19237	0.603000	0.83216	GAG		0.249	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		7	37	0	0	0	1	0	7	37				
NONO	4841	broad.mit.edu	37	X	70514363	70514363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70514363C>T	ENST00000276079.8	+	5	840	c.635C>T	c.(634-636)tCc>tTc	p.S212F	NONO_ENST00000373841.1_Missense_Mutation_p.S212F|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.S123F|NONO_ENST00000373856.3_Missense_Mutation_p.S212F	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	212	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTGAAGGCTCCTTCCTGCTA	0.488			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(367-369)tCc>tTc		non-POU domain containing, octamer-binding							43.0	37.0	39.0					X																	70514363		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514363C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.635C>T	X.37:g.70514363C>T	ENSP00000276079:p.Ser212Phe					NONO_ENST00000276079.8_Missense_Mutation_p.S212F|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S212F|NONO_ENST00000373841.1_Missense_Mutation_p.S212F	p.S123F	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			3	1011	+	Renal(35;0.156)		212			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.368C>T	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.68|15.68	2.906232|2.906232	0.52333|0.52333	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.|T;T;T;T	.|0.18502	.|2.21;2.21;2.21;2.21	4.87|4.87	4.87|4.87	0.63330|0.63330	.|RNA recognition motif domain (2);	.|0.116802	.|0.56097	.|D	.|0.000021	T|T	0.14399|0.14399	0.0348|0.0348	N|N	0.21448|0.21448	0.665|0.665	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.12013	.|0.005	.|B	.|0.15052	.|0.012	T|T	0.04537|0.04537	-1.0944|-1.0944	5|10	.|0.46703	.|T	.|0.11	-7.1544|-7.1544	17.3063|17.3063	0.87196|0.87196	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|212	.|Q15233	.|NONO_HUMAN	S|F	74|123;212;212;212	.|ENSP00000441364:S123F;ENSP00000276079:S212F;ENSP00000362963:S212F;ENSP00000362947:S212F	.|ENSP00000276079:S212F	P|S	+|+	1|2	0|0	NONO|NONO	70431088|70431088	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.777000|3.777000	0.55364|0.55364	2.269000|2.269000	0.75478|0.75478	0.529000|0.529000	0.55759|0.55759	CCT|TCC		0.488	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		12	13	0	0	0	1	0	12	13				
LRP5	4041	broad.mit.edu	37	11	68115391	68115391	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68115391C>T	ENST00000294304.7	+	2	274	c.168C>T	c.(166-168)acC>acT	p.T56T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	56	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGTCCACCATCGTGGTCA	0.637																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(166-168)acC>acT		low density lipoprotein receptor-related protein 5							43.0	44.0	43.0					11																	68115391		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68115391C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.168C>T	11.37:g.68115391C>T							p.T56T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			2	274	+			56			Beta-propeller 1.		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.168C>T	CCDS8181.1																																																																																				0.637	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		28	43	0	0	0	1	0	28	43				
RPL3	6122	broad.mit.edu	37	22	39711393	39711393	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39711393G>A	ENST00000216146.4	-	5	842	c.669C>T	c.(667-669)acC>acT	p.T223T	RPL3_ENST00000401609.1_Silent_p.T171T|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	223					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	CTTTGCCCTTGGTCACCCCGA	0.577																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(667-669)acC>acT		ribosomal protein L3							125.0	113.0	117.0					22																	39711393		2203	4300	6503	SO:0001819	synonymous_variant	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39711393G>A	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.669C>T	22.37:g.39711393G>A						RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.T171T	p.T223T	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			5	842	-	Melanoma(58;0.04)		223					B2RDV9|Q15548|Q5I0G0	Silent	SNP	ENST00000216146.4	37	c.669C>T	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	G	9.892	1.204386	0.22205	.	.	ENSG00000100316	ENST00000427905	.	.	.	5.15	2.91	0.33838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6164	0.28160	0.0759:0.0:0.6195:0.3046	.	.	.	.	X	255	.	.	Q	-	1	0	RPL3	38041339	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.389000	0.44407	1.122000	0.41944	0.462000	0.41574	CAA		0.577	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		71	77	0	0	0	1	0	71	77				
DPEP1	1800	broad.mit.edu	37	16	89702965	89702965	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:89702965G>A	ENST00000393092.3	+	5	686	c.395G>A	c.(394-396)gGg>gAg	p.G132E	DPEP1_ENST00000421184.1_Missense_Mutation_p.G132E|DPEP1_ENST00000261615.4_Missense_Mutation_p.G132E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	132					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	TTCCGGGAAGGGAAGGTGGCC	0.662																																						ENST00000393092.3																			0				large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14						c.(394-396)gGg>gAg		dipeptidase 1 (renal)	Cilastatin(DB01597)						53.0	50.0	51.0					16																	89702965		2189	4294	6483	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89702965G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.395G>A	16.37:g.89702965G>A	ENSP00000376807:p.Gly132Glu					DPEP1_ENST00000261615.4_Missense_Mutation_p.G132E|DPEP1_ENST00000421184.1_Missense_Mutation_p.G132E	p.G132E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	5	686	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	132					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.395G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	17.09	3.299146	0.60195	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.27557	1.66;1.66;1.66	5.27	3.07	0.35406	.	0.377649	0.30501	N	0.009498	T	0.52693	0.1750	M	0.91090	3.175	0.09310	N	1	B	0.31193	0.312	P	0.48571	0.582	T	0.53187	-0.8474	10	0.56958	D	0.05	-24.8758	6.5139	0.22236	0.4801:0.0:0.5199:0.0	.	132	P16444	DPEP1_HUMAN	E	132	ENSP00000397313:G132E;ENSP00000376807:G132E;ENSP00000261615:G132E	ENSP00000261615:G132E	G	+	2	0	DPEP1	88230466	0.000000	0.05858	0.097000	0.21041	0.773000	0.43773	0.826000	0.27407	0.555000	0.29079	0.550000	0.68814	GGG		0.662	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		26	30	0	0	0	1	0	26	30				
NPAS1	4861	broad.mit.edu	37	19	47539225	47539225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47539225G>A	ENST00000602212.1	+	6	746	c.526G>A	c.(526-528)Gag>Aag	p.E176K	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.E176K|NPAS1_ENST00000439365.2_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	176	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCGGCAGGTGGAGATGACGGG	0.682											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(526-528)Gag>Aag		neuronal PAS domain protein 1							16.0	15.0	15.0					19																	47539225		2200	4298	6498	SO:0001583	missense	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47539225G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.526G>A	19.37:g.47539225G>A	ENSP00000469142:p.Glu176Lys		OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.E176K|NPAS1_ENST00000439365.2_5'UTR	p.E176K			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	6	746	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	176			PAS 1.		B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.526G>A	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.651137	0.96714	.	.	ENSG00000130751	ENST00000449844	T	0.25085	1.82	5.13	5.13	0.70059	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.93720	3.45	0.80722	D	1	P	0.45902	0.868	P	0.49683	0.619	T	0.64706	-0.6344	10	0.87932	D	0	.	14.0682	0.64844	0.0:0.0:1.0:0.0	.	176	Q99742	NPAS1_HUMAN	K	176	ENSP00000405290:E176K	ENSP00000405290:E176K	E	+	1	0	NPAS1	52231065	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.552000	0.90682	2.395000	0.81488	0.561000	0.74099	GAG		0.682	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		3	7	0	0	0	1	0	3	7				
ARHGAP4	393	broad.mit.edu	37	X	153184378	153184378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153184378G>A	ENST00000350060.5	-	7	981	c.940C>T	c.(940-942)Cct>Tct	p.P314S	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.P354S|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P291S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P293S	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	314					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTGGAGGATCCAGGGCC	0.647																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1060-1062)Cct>Tct		Rho GTPase activating protein 4							76.0	70.0	72.0					X																	153184378		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184378G>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.940C>T	X.37:g.153184378G>A	ENSP00000203786:p.Pro314Ser					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P291S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P314S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P293S	p.P354S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			8	1117	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		314					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1060C>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.152956	0.21371	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;2.38	4.89	4.89	0.63831	.	0.000000	0.41823	D	0.000814	T	0.28134	0.0694	L	0.28400	0.85	0.38159	D	0.938986	P;P	0.41929	0.765;0.584	B;B	0.34180	0.177;0.177	T	0.15292	-1.0442	10	0.10636	T	0.68	.	9.999	0.41918	0.0987:0.0:0.9013:0.0	.	354;314	Q86UY3;P98171	.;RHG04_HUMAN	S	354;314;293;291;89	ENSP00000359045:P354S;ENSP00000203786:P314S;ENSP00000359033:P293S;ENSP00000444169:P291S;ENSP00000398019:P89S	ENSP00000203786:P314S	P	-	1	0	ARHGAP4	152837572	1.000000	0.71417	0.693000	0.30195	0.564000	0.35744	2.968000	0.49224	2.155000	0.67459	0.525000	0.51046	CCT		0.647	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		63	79	0	0	0	1	0	63	79				
KIRREL2	84063	broad.mit.edu	37	19	36351847	36351847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36351847C>T	ENST00000360202.5	+	8	1163	c.965C>T	c.(964-966)tCc>tTc	p.S322F	KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	322	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCCGTGTCCGTGGACGTG	0.677																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(964-966)tCc>tTc		kin of IRRE like 2 (Drosophila)							20.0	23.0	22.0					19																	36351847		2195	4293	6488	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351847C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.965C>T	19.37:g.36351847C>T	ENSP00000353331:p.Ser322Phe					KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|NPHS1_ENST00000591817.1_Intron	p.S322F	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1163	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		322			Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.965C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	c	14.95	2.688706	0.48097	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.13196	2.61;2.61;2.61	4.48	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.490020	0.17382	N	0.176263	T	0.28200	0.0696	L	0.56280	1.765	0.18873	N	0.999988	D;P;D;D;D	0.59767	0.963;0.955;0.963;0.986;0.974	P;P;P;P;P	0.60541	0.771;0.66;0.876;0.804;0.804	T	0.02774	-1.1112	10	0.56958	D	0.05	-12.8537	12.5508	0.56225	0.0:1.0:0.0:0.0	.	322;302;322;272;322	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	F	322;272;322;302	ENSP00000262625:S322F;ENSP00000345067:S272F;ENSP00000353331:S322F	ENSP00000262625:S322F	S	+	2	0	KIRREL2	41043687	0.000000	0.05858	0.144000	0.22314	0.031000	0.12232	0.683000	0.25349	2.332000	0.79248	0.450000	0.29827	TCC		0.677	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		9	29	0	0	0	1	0	9	29				
ZNF337	26152	broad.mit.edu	37	20	25655810	25655810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655810C>T	ENST00000376436.1	-	4	2653	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R705K|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673K|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	705					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTGTGTATTCTTTCATGCAC	0.453																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2113-2115)aGa>aAa		zinc finger protein 337							240.0	228.0	232.0					20																	25655810		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25655810C>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2114G>A	20.37:g.25655810C>T	ENSP00000365619:p.Arg705Lys					RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R705K|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673K	p.R705K							4	2653	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.2114G>A	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	15.44	2.833251	0.50951	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18338	2.22;2.22;2.22	1.47	0.429	0.16506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.33245	0.995	0.09310	N	1	D;D	0.59767	0.96;0.986	P;P	0.46685	0.524;0.524	T	0.16928	-1.0386	9	0.49607	T	0.09	.	5.7241	0.18002	0.5659:0.4341:0.0:0.0	.	673;705	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	K	705;705;593;673	ENSP00000365619:R705K;ENSP00000252979:R705K;ENSP00000442181:R673K	ENSP00000252979:R705K	R	-	2	0	ZNF337	25603810	0.000000	0.05858	0.000000	0.03702	0.929000	0.56500	0.138000	0.16016	0.161000	0.19458	0.298000	0.19748	AGA		0.453	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			61	108	0	0	0	1	0	61	108				
MAGEE1	57692	broad.mit.edu	37	X	75648905	75648905	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75648905G>A	ENST00000361470.2	+	1	860	c.582G>A	c.(580-582)gaG>gaA	p.E194E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	194	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCCTGATGAGGGACCAAGCA	0.697																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(580-582)gaG>gaA		melanoma antigen family E, 1							29.0	25.0	26.0					X																	75648905		2199	4296	6495	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648905G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.582G>A	X.37:g.75648905G>A							p.E194E	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	860	+			194			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.582G>A	CCDS14433.1																																																																																				0.697	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	24	0	0	0	1	0	6	24				
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Missense_Mutation	SNP	C	C	T	rs121913384		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:21971096C>T	ENST00000304494.5	-	2	532	c.262G>A	c.(262-264)Gag>Aag	p.E88K	CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102E|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(304-306)gGa>gAa		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971096C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>A	9.37:g.21971096C>T	ENSP00000307101:p.Glu88Lys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K	p.G102E			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	597	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0		A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.305G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.960185|3.960185	0.74016|0.74016	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	D;D|D;D	0.93426|0.87334	-3.22;-3.22|-2.24;-2.13	5.93|5.93	5.93|5.93	0.95920|0.95920	Ankyrin repeat-containing domain (4);|.	.|0.215520	.|0.23483	.|N	.|0.047681	D|D	0.83399|0.83399	0.5246|0.5246	L|L	0.32530|0.32530	0.975|0.975	0.39248|0.39248	D|D	0.963978|0.963978	D|P	0.64830|0.38597	0.994|0.639	P|B	0.53185|0.37198	0.72|0.243	D|D	0.85634|0.85634	0.1272|0.1272	9|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88|143	P42771|Q8N726	CD2A1_HUMAN|CD2A2_HUMAN	K|E	88|143;102	ENSP00000307101:E88K;ENSP00000394932:E88K|ENSP00000355153:G143E;ENSP00000432664:G102E	ENSP00000307101:E88K|ENSP00000355153:G143E	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		12	4	0	0	0	1	0	12	4				
GBP6	163351	broad.mit.edu	37	1	89845978	89845978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89845978C>T	ENST00000370456.4	+	6	752	c.659C>T	c.(658-660)cCc>cTc	p.P220L	GBP6_ENST00000535065.1_Missense_Mutation_p.P90L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	220	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P220L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCAATTTTCCCAGGGAGTGC	0.403																																						ENST00000370456.4																			1	Substitution - Missense(1)	p.P220L(1)	ovary(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(658-660)cCc>cTc		guanylate binding protein family, member 6							82.0	82.0	82.0					1																	89845978		2203	4300	6503	SO:0001583	missense	163351						GTP binding|GTPase activity	g.chr1:89845978C>T	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.659C>T	1.37:g.89845978C>T	ENSP00000359485:p.Pro220Leu					GBP6_ENST00000535065.1_Missense_Mutation_p.P90L	p.P220L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	6	752	+		Lung NSC(277;0.0908)	220					A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	c.659C>T	CCDS723.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892042	0.33442	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.60424	0.19;0.19	4.54	1.63	0.23807	Guanylate-binding protein, N-terminal (1);	0.322691	0.27294	N	0.020032	T	0.40372	0.1114	M	0.85630	2.765	0.09310	N	1	B	0.30741	0.293	B	0.31686	0.134	T	0.44329	-0.9335	10	0.66056	D	0.02	-0.0168	7.8433	0.29410	0.0:0.7171:0.0:0.2829	.	220	Q6ZN66	GBP6_HUMAN	L	191;220;90	ENSP00000359485:P220L;ENSP00000442530:P90L	ENSP00000359485:P220L	P	+	2	0	GBP6	89618566	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.839000	0.39220	0.043000	0.15746	-0.229000	0.12294	CCC		0.403	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		15	34	0	0	0	1	0	15	34				
URB2	9816	broad.mit.edu	37	1	229772433	229772433	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:229772433C>T	ENST00000258243.2	+	4	2209	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	691						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACTAGTTTCCGGTCTGAAG	0.438																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(2071-2073)ttC>ttT		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							136.0	146.0	143.0					1																	229772433		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772433C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2073C>T	1.37:g.229772433C>T							p.F691F	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	2209	+			691					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.2073C>T	CCDS31052.1																																																																																				0.438	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		113	38	0	0	0	1	0	113	38				
DNAH11	8701	broad.mit.edu	37	7	21698455	21698455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21698455G>A	ENST00000409508.3	+	30	5165	c.5134G>A	c.(5134-5136)Gaa>Aaa	p.E1712K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E1717K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1717	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						GACTATGCAAGAAACGGTGCG	0.423									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.(5149-5151)Gaa>Aaa		dynein, axonemal, heavy chain 11							46.0	43.0	44.0					7																	21698455		1885	4103	5988	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.chr7:21698455G>A	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.5134G>A	7.37:g.21698455G>A	ENSP00000475939:p.Glu1712Lys					DNAH11_ENST00000409508.3_Missense_Mutation_p.E1712K	p.E1717K			Q96DT5	DYH11_HUMAN			30	5180	+			1717			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5149G>A		.	.	.	.	.	.	.	.	.	.	G	4.789	0.146771	0.09134	.	.	ENSG00000105877	ENST00000328843	T	0.60171	0.21	5.92	5.04	0.67666	Dynein heavy chain, domain-2 (1);	1.358220	0.04176	N	0.325600	T	0.41858	0.1177	.	.	.	0.09310	N	1	B	0.19445	0.036	B	0.26969	0.075	T	0.24621	-1.0155	9	0.06625	T	0.88	.	11.9302	0.52843	0.1498:0.0:0.8502:0.0	.	1717	Q96DT5	DYH11_HUMAN	K	1717	ENSP00000330671:E1717K	ENSP00000330671:E1717K	E	+	1	0	DNAH11	21664980	0.063000	0.20901	0.007000	0.13788	0.305000	0.27757	1.353000	0.34045	1.528000	0.49103	0.603000	0.83216	GAA		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		10	8	0	0	0	1	0	10	8				
IDS	3423	broad.mit.edu	37	X	148568458	148568458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148568458G>A	ENST00000340855.6	-	8	1387	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	IDS_ENST00000490775.1_5'Flank|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.P182L|IDS_ENST00000422081.2_Missense_Mutation_p.P182L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	393					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTTATACCTGGCTCCATCAA	0.433																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1177-1179)cCa>cTa		iduronate 2-sulfatase							52.0	52.0	52.0					X																	148568458		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148568458G>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1178C>T	X.37:g.148568458G>A	ENSP00000339801:p.Pro393Leu					IDS_ENST00000541269.1_Missense_Mutation_p.P182L|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA	p.P393L	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			8	1387	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		393					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.1178C>T	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	g	14.68	2.607333	0.46527	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99907	-7.8;-7.8	5.27	5.27	0.74061	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.568597	0.18201	N	0.148506	D	0.99704	0.9887	M	0.83223	2.63	0.80722	D	1	B;B	0.30870	0.298;0.154	B;B	0.31101	0.122;0.124	D	0.97878	1.0290	10	0.56958	D	0.05	.	12.6167	0.56580	0.0:0.0:0.8341:0.1659	.	303;393	B4DGD7;P22304	.;IDS_HUMAN	L	393;182	ENSP00000339801:P393L;ENSP00000441261:P182L	ENSP00000339801:P393L	P	-	2	0	IDS	148376363	1.000000	0.71417	0.935000	0.37517	0.704000	0.40688	2.893000	0.48633	2.356000	0.79943	0.525000	0.51046	CCA		0.433	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			29	40	0	0	0	1	0	29	40				
VWF	7450	broad.mit.edu	37	12	6167114	6167114	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6167114G>A	ENST00000261405.5	-	14	1884	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	544	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACCCGGGGCTCCGCCAGC	0.662																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1630-1632)Ccc>Tcc		von Willebrand factor	Antihemophilic Factor(DB00025)						55.0	58.0	57.0					12																	6167114		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167114G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1630C>T	12.37:g.6167114G>A	ENSP00000261405:p.Pro544Ser						p.P544S	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			14	1884	-			544			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1630C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140457	0.21205	.	.	ENSG00000110799	ENST00000261405	T	0.32515	1.45	4.94	-1.7	0.08159	von Willebrand factor, type D domain (1);	0.387634	0.18949	N	0.126732	T	0.24699	0.0599	N	0.11106	0.095	0.58432	D	0.999999	B;D	0.69078	0.013;0.997	B;D	0.75484	0.004;0.986	T	0.27673	-1.0067	10	0.19147	T	0.46	.	5.2138	0.15332	0.2073:0.518:0.1693:0.1055	.	544;544	B4DNX0;P04275	.;VWF_HUMAN	S	544	ENSP00000261405:P544S	ENSP00000261405:P544S	P	-	1	0	VWF	6037375	0.841000	0.29509	0.977000	0.42913	0.181000	0.23173	-0.056000	0.11787	-0.545000	0.06224	0.491000	0.48974	CCC		0.662	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		24	67	0	0	0	1	0	24	67				
FAT4	79633	broad.mit.edu	37	4	126370528	126370528	+	Missense_Mutation	SNP	C	C	T	rs267600011		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126370528C>T	ENST00000394329.3	+	9	8370	c.8357C>T	c.(8356-8358)cCc>cTc	p.P2786L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1084L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2786	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAAATTCCCCCTTAGGATAC	0.363																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8356-8358)cCc>cTc		FAT atypical cadherin 4							105.0	114.0	111.0					4																	126370528		2192	4296	6488	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370528C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8357C>T	4.37:g.126370528C>T	ENSP00000377862:p.Pro2786Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.P1084L	p.P2786L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8370	+			2786			Cadherin 27.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8357C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539308	0.65085	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01647	4.71;4.71	5.61	4.76	0.60689	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004038	T	0.07324	0.0185	M	0.62209	1.925	0.58432	D	0.999996	P;P;D	0.89917	0.775;0.909;1.0	B;P;D	0.91635	0.267;0.771;0.999	T	0.17410	-1.0370	10	0.42905	T	0.14	.	9.5616	0.39373	0.1433:0.7863:0.0:0.0704	.	1084;2786;2786	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	2786;1084	ENSP00000377862:P2786L;ENSP00000335169:P1084L	ENSP00000335169:P1084L	P	+	2	0	FAT4	126589978	0.999000	0.42202	0.096000	0.21009	0.953000	0.61014	5.904000	0.69886	1.474000	0.48178	0.655000	0.94253	CCC		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		63	68	0	0	0	1	0	63	68				
ZNF747	65988	broad.mit.edu	37	16	30544332	30544332	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30544332G>A	ENST00000252799.3	-	0	1291				ZNF747_ENST00000569360.1_Missense_Mutation_p.R161W|ZNF747_ENST00000535210.1_Missense_Mutation_p.R161W|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000568028.1_Missense_Mutation_p.R161W|ZNF747_ENST00000395094.3_3'UTR	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CTCCGGCGCCGGGCCTTGGAC	0.711																																						ENST00000569360.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(481-483)Cgg>Tgg		zinc finger protein 747							24.0	29.0	27.0					16																	30544332		2194	4299	6493	SO:0001624	3_prime_UTR_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544332G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*48C>T	16.37:g.30544332G>A						ZNF747_ENST00000568028.1_Missense_Mutation_p.R161W|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.R161W	p.R161W			Q9BV97	ZN747_HUMAN			3	653	-			0					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.481C>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131780	0.37630	.	.	ENSG00000169955	ENST00000535210	T	0.05513	3.43	2.11	1.09	0.20402	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37820	-0.9689	6	0.44086	T	0.13	.	5.7502	0.18142	0.0:0.0:0.6821:0.3179	.	.	.	.	W	161	ENSP00000441702:R161W	ENSP00000441702:R161W	R	-	1	2	ZNF747	30451833	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.348000	0.20031	0.415000	0.25817	0.313000	0.20887	CGG		0.711	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		25	21	0	0	0	1	0	25	21				
NOX3	50508	broad.mit.edu	37	6	155750157	155750157	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:155750157G>A	ENST00000159060.2	-	9	1018	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	306	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGTTCCAGGACTCCAGAG	0.488																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(916-918)Ctg>Ttg		NADPH oxidase 3							97.0	98.0	97.0					6																	155750157		2203	4300	6503	SO:0001819	synonymous_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750157G>A	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.916C>T	6.37:g.155750157G>A							p.L306L	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1018	-		Breast(66;0.0183)	306			FAD-binding FR-type.		Q9HBJ9	Silent	SNP	ENST00000159060.2	37	c.916C>T	CCDS5250.1																																																																																				0.488	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			39	30	0	0	0	1	0	39	30				
SERPINB12	89777	broad.mit.edu	37	18	61233999	61233999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:61233999G>A	ENST00000269491.1	+	7	973	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	SERPINB12_ENST00000382768.1_Missense_Mutation_p.E345K	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	325					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TATCTTTGATGAAACGAGGGC	0.443																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(1033-1035)Gaa>Aaa		serpin peptidase inhibitor, clade B (ovalbumin), member 12							166.0	165.0	166.0					18																	61233999		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61233999G>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.973G>A	18.37:g.61233999G>A	ENSP00000269491:p.Glu325Lys					SERPINB12_ENST00000269491.1_Missense_Mutation_p.E325K	p.E345K			Q96P63	SPB12_HUMAN			7	1033	+			325					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1033G>A	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892893	0.33442	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84442	-1.85;-1.85	5.81	4.92	0.64577	Serpin domain (3);	0.168750	0.41938	D	0.000796	D	0.87657	0.6232	L	0.54908	1.71	0.09310	N	1	D;D	0.69078	0.997;0.989	D;P	0.65443	0.935;0.862	T	0.77963	-0.2390	10	0.12430	T	0.62	.	11.4108	0.49925	0.0:0.2543:0.6141:0.1316	.	345;325	Q3SYB4;Q96P63	.;SPB12_HUMAN	K	325;345	ENSP00000269491:E325K;ENSP00000372218:E345K	ENSP00000269491:E325K	E	+	1	0	SERPINB12	59384979	0.000000	0.05858	0.778000	0.31720	0.658000	0.38924	0.557000	0.23454	1.425000	0.47237	0.655000	0.94253	GAA		0.443	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		75	110	0	0	0	1	0	75	110				
DDX6	1656	broad.mit.edu	37	11	118656871	118656871	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118656871G>A	ENST00000526070.2	-	2	450	c.90C>T	c.(88-90)ggC>ggT	p.G30G	DDX6_ENST00000534980.1_Silent_p.G30G|DDX6_ENST00000264018.4_Silent_p.G30G	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	30					cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CTCCTCCAGGGCCACCAGTGG	0.502			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(88-90)ggC>ggT		DEAD (Asp-Glu-Ala-Asp) box helicase 6							102.0	102.0	102.0					11																	118656871		1925	4131	6056	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118656871G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.90C>T	11.37:g.118656871G>A						DDX6_ENST00000534980.1_Silent_p.G30G|DDX6_ENST00000526070.2_Silent_p.G30G	p.G30G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	2	395	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	30					Q5D048	Silent	SNP	ENST00000526070.2	37	c.90C>T	CCDS44751.1																																																																																				0.502	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		32	56	0	0	0	1	0	32	56				
CFB	629	broad.mit.edu	37	6	31917212	31917212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917212G>A	ENST00000425368.2	+	10	1799	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	CFB_ENST00000556679.1_Missense_Mutation_p.G931E|CFB_ENST00000477310.1_Missense_Mutation_p.G780E|CFB_ENST00000456570.1_Missense_Mutation_p.G931E|CFB_ENST00000497841.1_3'UTR	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	429	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TATGTGTTTGGGGTCGGGCCT	0.478																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2791-2793)gGg>gAg		complement factor B							82.0	84.0	83.0					6																	31917212		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917212G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1286G>A	6.37:g.31917212G>A	ENSP00000416561:p.Gly429Glu					CFB_ENST00000477310.1_Missense_Mutation_p.G780E|CFB_ENST00000556679.1_Missense_Mutation_p.G931E|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Missense_Mutation_p.G429E	p.G931E			P00751	CFAB_HUMAN			22	2847	+			429					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2792G>A	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.479904|3.479904	0.63849|0.63849	.|.	.|.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000243649	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310|ENST00000483004	D;D;D;D|D	0.84944|0.85013	-1.92;-1.92;-1.92;-1.92|-1.93	5.71|5.71	5.71|5.71	0.89125|0.89125	von Willebrand factor, type A (3);|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000050|0.000050	D|D	0.91791|0.91791	0.7403|0.7403	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.92730|0.92730	0.6199|0.6199	10|8	0.87932|0.72032	D|D	0|0.01	-28.4679|-28.4679	15.36|15.36	0.74464|0.74464	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	931;429;429|.	B4E1Z4;P00751;P00751-2|.	.;CFAB_HUMAN;.|.	E|R	931;429;931;780|42	ENSP00000451848:G931E;ENSP00000416561:G429E;ENSP00000410815:G931E;ENSP00000418996:G780E|ENSP00000419887:G42R	ENSP00000416561:G429E|ENSP00000419887:G42R	G|G	+|+	2|1	0|0	CFB;XXbac-BPG116M5.17|CFB	32025191|32025191	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.180000|0.180000	0.23129|0.23129	6.408000|6.408000	0.73285|0.73285	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.478	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		23	17	0	0	0	1	0	23	17				
SLC27A1	376497	broad.mit.edu	37	19	17611616	17611616	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17611616G>A	ENST00000252595.7	+	10	1664	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523K|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	523					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCACCACCGAGGTGGAGGG	0.657																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1567-1569)Gag>Aag		solute carrier family 27 (fatty acid transporter), member 1							57.0	54.0	55.0					19																	17611616		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611616G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1567G>A	19.37:g.17611616G>A	ENSP00000252595:p.Glu523Lys					SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344K|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523K	p.E523K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			10	1664	+			523					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1567G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499437	0.85069	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.72394	-0.65;-0.65	4.54	4.54	0.55810	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93446	0.6798	10	0.87932	D	0	-34.2203	14.7589	0.69590	0.0:0.0:1.0:0.0	.	344;523	B7Z662;Q6PCB7	.;S27A1_HUMAN	K	523	ENSP00000413424:E523K;ENSP00000252595:E523K	ENSP00000252595:E523K	E	+	1	0	SLC27A1	17472616	1.000000	0.71417	0.943000	0.38184	0.556000	0.35491	9.294000	0.96088	2.082000	0.62665	0.561000	0.74099	GAG		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		12	32	0	0	0	1	0	12	32				
TPBG	7162	broad.mit.edu	37	6	83075788	83075788	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83075788C>T	ENST00000369750.3	+	2	1727	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	TPBG_ENST00000543496.1_Silent_p.F370F|TPBG_ENST00000535040.1_Silent_p.F370F			Q13641	TPBG_HUMAN	trophoblast glycoprotein	370					cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GCGCTATTTTCCTCCTGGTTT	0.463																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(1108-1110)ttC>ttT		trophoblast glycoprotein							102.0	101.0	101.0					6																	83075788		2203	4300	6503	SO:0001819	synonymous_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83075788C>T	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.1110C>T	6.37:g.83075788C>T						TPBG_ENST00000535040.1_Silent_p.F370F|TPBG_ENST00000543496.1_Silent_p.F370F	p.F370F			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1727	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	370					A8K555	Silent	SNP	ENST00000369750.3	37	c.1110C>T	CCDS4995.1																																																																																				0.463	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			31	27	0	0	0	1	0	31	27				
VCX3B	425054	broad.mit.edu	37	X	8434194	8434194	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:8434194G>A	ENST00000381032.1	+	3	818	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	VCX3B_ENST00000444481.1_Missense_Mutation_p.E141K|VCX3B_ENST00000381029.4_Missense_Mutation_p.E139K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E171K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E121K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	171	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGCGAGGTGGAAGAACCACT	0.587																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(511-513)Gaa>Aaa		variable charge, X-linked 3B							17.0	54.0	44.0					X																	8434194		1432	3792	5224	SO:0001583	missense	425054					nucleolus		g.chrX:8434194G>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.511G>A	X.37:g.8434194G>A	ENSP00000370420:p.Glu171Lys					VCX3B_ENST00000381029.4_Missense_Mutation_p.E139K|VCX3B_ENST00000444481.1_Missense_Mutation_p.E141K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E171K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E121K	p.E171K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	818	+			171			11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.511G>A	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	g	6.129	0.392072	0.11581	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.29655	2.04;2.12;2.33;1.56;2.33	0.705	0.705	0.18127	.	.	.	.	.	T	0.12689	0.0308	N	0.24115	0.695	0.09310	N	1	B;B	0.33528	0.416;0.416	B;B	0.24701	0.055;0.055	T	0.19095	-1.0316	9	0.07644	T	0.81	.	3.828	0.08863	0.0:1.0E-4:0.5773:0.4226	.	141;121	Q9H321;E7ERZ8	VCX3B_HUMAN;.	K	171;171;141;121;139	ENSP00000370420:E171K;ENSP00000411785:E171K;ENSP00000414780:E141K;ENSP00000410372:E121K;ENSP00000370417:E139K	ENSP00000370417:E139K	E	+	1	0	VCX3B	8394194	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.628000	0.00873	0.695000	0.31675	0.525000	0.51046	GAA		0.587	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			36	315	0	0	0	1	0	36	315				
ZFYVE20	64145	broad.mit.edu	37	3	15115502	15115502	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15115502G>T	ENST00000253699.3	-	14	2755	c.2142C>A	c.(2140-2142)ccC>ccA	p.P714P	ZFYVE20_ENST00000476527.2_Silent_p.P714P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	714	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGATACAGGTGGGTTCCTCAA	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(2140-2142)ccC>ccA		zinc finger, FYVE domain containing 20							90.0	90.0	90.0					3																	15115502		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115502G>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.2142C>A	3.37:g.15115502G>T						ZFYVE20_ENST00000476527.2_Silent_p.P714P	p.P714P	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2755	-			714			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.2142C>A	CCDS2623.1																																																																																				0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		38	70	1	0	1.66425e-11	1	1.68238e-11	38	70				
C1QTNF9B	387911	broad.mit.edu	37	13	24466137	24466137	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:24466137C>T	ENST00000382140.2	-	5	353	c.293G>A	c.(292-294)gGa>gAa	p.G98E	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.G98E|MIPEP_ENST00000382172.3_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	98	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCCATGTTTTCCTGGGGATCC	0.517																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(292-294)gGa>gAa		C1q and tumor necrosis factor related protein 9B							44.0	59.0	54.0					13																	24466137		2201	4294	6495	SO:0001583	missense	387911					collagen		g.chr13:24466137C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.293G>A	13.37:g.24466137C>T	ENSP00000371575:p.Gly98Glu					C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G98E|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA	p.G98E	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	361	-			98			Collagen-like 2.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.293G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	18.65	3.669077	0.67814	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.99176	-5.52;-5.52	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97540	1.0085	10	0.87932	D	0	.	16.7528	0.85490	0.0:1.0:0.0:0.0	.	98	B2RNN3	C1T9B_HUMAN	E	98	ENSP00000371572:G98E;ENSP00000371575:G98E	ENSP00000371572:G98E	G	-	2	0	C1QTNF9B	23364137	1.000000	0.71417	0.983000	0.44433	0.467000	0.32768	7.354000	0.79424	1.950000	0.56595	0.456000	0.33151	GGA		0.517	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		26	87	0	0	0	1	0	26	87				
FCGBP	8857	broad.mit.edu	37	19	40398045	40398045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40398045G>A	ENST00000221347.6	-	14	6929	c.6922C>T	c.(6922-6924)Cct>Tct	p.P2308S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2308						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACTGCAGGACAGAGGCCT	0.692																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(6922-6924)Cct>Tct		Fc fragment of IgG binding protein							25.0	28.0	27.0					19																	40398045		2117	3802	5919	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40398045G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6922C>T	19.37:g.40398045G>A	ENSP00000221347:p.Pro2308Ser						p.P2308S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		14	6929	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2308					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.6922C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	1.112	-0.657973	0.03454	.	.	ENSG00000090920	ENST00000221347	T	0.77489	-1.1	2.17	2.17	0.27698	Uncharacterised domain, cysteine-rich (2);	.	.	.	.	T	0.51398	0.1672	N	0.03324	-0.35	0.25881	N	0.983583	P	0.38280	0.625	B	0.39738	0.308	T	0.46925	-0.9156	9	0.09084	T	0.74	.	6.6822	0.23127	0.0:0.0:0.5555:0.4445	.	2308	Q9Y6R7	FCGBP_HUMAN	S	2308	ENSP00000221347:P2308S	ENSP00000221347:P2308S	P	-	1	0	FCGBP	45089885	0.298000	0.24417	0.919000	0.36401	0.756000	0.42949	0.694000	0.25512	1.529000	0.49120	0.479000	0.44913	CCT		0.692	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		20	58	0	0	0	1	0	20	58				
SYNE2	23224	broad.mit.edu	37	14	64421611	64421611	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64421611C>T	ENST00000344113.4	+	8	977	c.765C>T	c.(763-765)atC>atT	p.I255I	SYNE2_ENST00000341472.5_Silent_p.I255I|SYNE2_ENST00000356081.3_Silent_p.I255I|SYNE2_ENST00000358025.3_Silent_p.I255I|SYNE2_ENST00000554584.1_Silent_p.I255I|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	255	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATTAAAAATCCCCAGATTGC	0.368																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(763-765)atC>atT		spectrin repeat containing, nuclear envelope 2							83.0	74.0	76.0					14																	64421611		1812	4083	5895	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421611C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.765C>T	14.37:g.64421611C>T						SYNE2_ENST00000356081.3_Silent_p.I255I|SYNE2_ENST00000344113.4_Silent_p.I255I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I255I|SYNE2_ENST00000341472.5_Silent_p.I255I	p.I255I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	995	+			255			Actin-binding.|CH 2.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.765C>T	CCDS41963.1																																																																																				0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		21	33	0	0	0	1	0	21	33				
MCTP1	79772	broad.mit.edu	37	5	94204083	94204083	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:94204083A>G	ENST00000515393.1	-	17	2390	c.2391T>C	c.(2389-2391)agT>agC	p.S797S	MCTP1_ENST00000312216.8_Silent_p.S576S|MCTP1_ENST00000505208.1_Silent_p.S576S|MCTP1_ENST00000429576.2_Silent_p.S530S|MCTP1_ENST00000505078.1_Silent_p.S313S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	797					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATCAAAGCAACTATTAACGT	0.348																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2389-2391)agT>agC		multiple C2 domains, transmembrane 1							81.0	72.0	75.0					5																	94204083		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94204083A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2391T>C	5.37:g.94204083A>G						MCTP1_ENST00000505078.1_Silent_p.S313S|MCTP1_ENST00000429576.2_Silent_p.S530S|MCTP1_ENST00000312216.8_Silent_p.S576S|MCTP1_ENST00000505208.1_Silent_p.S576S	p.S797S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	17	2390	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	797					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.2391T>C	CCDS34203.1																																																																																				0.348	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		15	13	0	0	0	1	0	15	13				
CASP3	836	broad.mit.edu	37	4	185552944	185552944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185552944C>T	ENST00000308394.4	-	6	720	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CASP3_ENST00000393588.4_Missense_Mutation_p.G153E|CASP3_ENST00000517513.1_Missense_Mutation_p.G153E|CASP3_ENST00000523916.1_Missense_Mutation_p.G153E|CASP3_ENST00000393585.2_Missense_Mutation_p.G153E	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	153					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	TTTGGGTTTTCCAGTTAGACT	0.353																																						ENST00000308394.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(457-459)gGa>gAa		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						73.0	72.0	72.0					4																	185552944		2202	4300	6502	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185552944C>T	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.458G>A	4.37:g.185552944C>T	ENSP00000311032:p.Gly153Glu					CASP3_ENST00000393588.4_Missense_Mutation_p.G153E|CASP3_ENST00000393585.2_Missense_Mutation_p.G153E|CASP3_ENST00000517513.1_Missense_Mutation_p.G153E|CASP3_ENST00000523916.1_Missense_Mutation_p.G153E	p.G153E	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	6	720	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	153					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.458G>A	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035816	0.93630	.	.	ENSG00000164305	ENST00000308394;ENST00000393585;ENST00000523916;ENST00000517513;ENST00000393588	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.74	5.74	0.90152	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.966	D;P	0.70935	0.971;0.676	T	0.79940	-0.1591	10	0.39692	T	0.17	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	153;153	P42574;A8MVM1	CASP3_HUMAN;.	E	153	ENSP00000311032:G153E;ENSP00000377210:G153E;ENSP00000428929:G153E;ENSP00000428372:G153E;ENSP00000377213:G153E	ENSP00000311032:G153E	G	-	2	0	CASP3	185789938	1.000000	0.71417	0.955000	0.39395	0.998000	0.95712	7.762000	0.85270	2.716000	0.92895	0.561000	0.74099	GGA		0.353	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		16	39	0	0	0	1	0	16	39				
PCDH9	5101	broad.mit.edu	37	13	67799719	67799719	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799719G>A	ENST00000377865.2	-	1	2988	c.2854C>T	c.(2854-2856)Cca>Tca	p.P952S	PCDH9_ENST00000456367.1_Missense_Mutation_p.P952S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952S|PCDH9_ENST00000544246.1_Missense_Mutation_p.P952S			Q9HC56	PCDH9_HUMAN	protocadherin 9	952					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTGTCTGGTTTGAGATGA	0.507																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2854-2856)Cca>Tca		protocadherin 9							143.0	144.0	144.0					13																	67799719		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799719G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2854C>T	13.37:g.67799719G>A	ENSP00000367096:p.Pro952Ser					PCDH9_ENST00000377865.2_Missense_Mutation_p.P952S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952S	p.P952S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3545	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	952					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2854C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685425	0.47991	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	5.73	5.73	0.89815	Protocadherin (1);	0.057400	0.64402	D	0.000001	T	0.57592	0.2064	M	0.68952	2.095	0.49798	D	0.999829	P;D;P;P	0.55800	0.801;0.973;0.471;0.801	P;P;P;P	0.56042	0.692;0.79;0.566;0.79	T	0.60301	-0.7290	10	0.87932	D	0	.	15.3901	0.74735	0.0:0.1387:0.8613:0.0	.	952;952;952;952	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	952	ENSP00000442186:P952S;ENSP00000367096:P952S;ENSP00000401699:P952S;ENSP00000332060:P952S;ENSP00000367092:P952S	ENSP00000332060:P952S	P	-	1	0	PCDH9	66697720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.705000	0.68355	2.709000	0.92574	0.655000	0.94253	CCA		0.507	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		37	71	0	0	0	1	0	37	71				
UBN2	254048	broad.mit.edu	37	7	138968645	138968645	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138968645C>T	ENST00000473989.3	+	15	2994	c.2994C>T	c.(2992-2994)ccC>ccT	p.P998P	UBN2_ENST00000288561.8_Silent_p.P915P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	998	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GGTCCCACCCCCTGGTTTCTA	0.493																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2743-2745)ccC>ccT		ubinuclein 2							78.0	77.0	78.0					7																	138968645		1908	4142	6050	SO:0001819	synonymous_variant	254048							g.chr7:138968645C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2994C>T	7.37:g.138968645C>T						UBN2_ENST00000473989.2_Silent_p.P998P	p.P915P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2994	+			998			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	c.2745C>T	CCDS43655.2																																																																																				0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		30	67	0	0	0	1	0	30	67				
RERE	473	broad.mit.edu	37	1	8420763	8420763	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8420763G>A	ENST00000337907.3	-	19	3438	c.2804C>T	c.(2803-2805)cCc>cTc	p.P935L	RERE_ENST00000377464.1_Missense_Mutation_p.P667L|RERE_ENST00000400908.2_Missense_Mutation_p.P935L|RERE_ENST00000476556.1_Missense_Mutation_p.P381L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	935	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTGGGGGATGGGAGTGGTAGG	0.697																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2803-2805)cCc>cTc		arginine-glutamic acid dipeptide (RE) repeats							16.0	21.0	19.0					1																	8420763		2182	4259	6441	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420763G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2804C>T	1.37:g.8420763G>A	ENSP00000338629:p.Pro935Leu					RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.P667L|RERE_ENST00000400908.2_Missense_Mutation_p.P935L|RERE_ENST00000476556.1_Missense_Mutation_p.P381L	p.P935L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3438	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	935			Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.2804C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786606	0.49997	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.51325	0.71;0.71;0.71	5.26	4.35	0.52113	.	.	.	.	.	T	0.64114	0.2569	M	0.67953	2.075	0.80722	D	1	B;D	0.76494	0.001;0.999	B;D	0.72338	0.005;0.977	T	0.63972	-0.6516	9	0.41790	T	0.15	-14.0353	12.6137	0.56565	0.0809:0.0:0.9191:0.0	.	667;935	B1AKN3;Q9P2R6	.;RERE_HUMAN	L	935;667;381;935	ENSP00000338629:P935L;ENSP00000366684:P667L;ENSP00000383700:P935L	ENSP00000338629:P935L	P	-	2	0	RERE	8343350	1.000000	0.71417	0.988000	0.46212	0.013000	0.08279	4.977000	0.63792	1.220000	0.43490	0.609000	0.83330	CCC		0.697	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			12	26	0	0	0	1	0	12	26				
MUC4	4585	broad.mit.edu	37	3	195518076	195518076	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195518076G>A	ENST00000463781.3	-	2	834	c.375C>T	c.(373-375)tcC>tcT	p.S125S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S125S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	130					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTGACACTGGAGGGAAATG	0.448																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(373-375)tcC>tcT		mucin 4, cell surface associated							188.0	165.0	172.0					3																	195518076		1989	4166	6155	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195518076G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.375C>T	3.37:g.195518076G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S125S	p.S125S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	834	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	130					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.375C>T	CCDS54700.1																																																																																				0.448	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		20	35	0	0	0	1	0	20	35				
USP51	158880	broad.mit.edu	37	X	55515083	55515083	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:55515083G>A	ENST00000500968.3	-	2	372	c.290C>T	c.(289-291)cCc>cTc	p.P97L	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	97	Pro-rich.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CGGGCAAACGGGCGAGGAGCT	0.756																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(289-291)cCc>cTc		ubiquitin specific peptidase 51							11.0	11.0	11.0					X																	55515083		2180	4260	6440	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515083G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.290C>T	X.37:g.55515083G>A	ENSP00000423333:p.Pro97Leu					USP51_ENST00000586165.1_Intron	p.P97L	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	372	-			97			Pro-rich.		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.290C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	4.992	0.184156	0.09495	.	.	ENSG00000247746	ENST00000500968	T	0.10763	2.84	2.65	-0.257	0.12979	.	0.189357	0.22273	U	0.062227	T	0.05318	0.0141	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	10	0.87932	D	0	.	5.1636	0.15073	0.4878:0.0:0.5122:0.0	.	97	Q70EK9	UBP51_HUMAN	L	97	ENSP00000423333:P97L	ENSP00000423333:P97L	P	-	2	0	USP51	55531808	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.369000	0.20416	-0.179000	0.10654	-0.339000	0.08088	CCC		0.756	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		7	10	0	0	0	1	0	7	10				
FOSL2	2355	broad.mit.edu	37	2	28627144	28627144	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28627144C>T	ENST00000264716.4	+	2	1136	c.273C>T	c.(271-273)gtC>gtT	p.V91V	FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000545753.1_Silent_p.V52V|FOSL2_ENST00000379619.1_Silent_p.V66V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	91					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGCCTCTGTCCCTGGACACA	0.637																																						ENST00000264716.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(271-273)gtC>gtT		FOS-like antigen 2							108.0	106.0	107.0					2																	28627144		2203	4300	6503	SO:0001819	synonymous_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28627144C>T		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.273C>T	2.37:g.28627144C>T						FOSL2_ENST00000545753.1_Silent_p.V52V|FOSL2_ENST00000379619.1_Silent_p.V66V|FOSL2_ENST00000460736.1_3'UTR	p.V91V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			2	1136	+	Acute lymphoblastic leukemia(172;0.155)		91					B2RD58|B3KP27|B4DYV4|Q6FG46	Silent	SNP	ENST00000264716.4	37	c.273C>T	CCDS1766.1																																																																																				0.637	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		54	82	0	0	0	1	0	54	82				
RNF135	84282	broad.mit.edu	37	17	29324271	29324271	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29324271G>A	ENST00000328381.5	+	4	1564	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	RNF135_ENST00000324689.4_Nonsense_Mutation_p.W176*|RNF135_ENST00000535306.2_Nonsense_Mutation_p.W252*|RNF135_ENST00000443677.2_Nonsense_Mutation_p.W128*	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	231					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AGAACTCCTGGAAGCCCCGTC	0.483																																						ENST00000535306.2																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(754-756)tgG>tgA		ring finger protein 135							100.0	94.0	96.0					17																	29324271		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29324271G>A	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.691G>A	17.37:g.29324271G>A	ENSP00000328340:p.Glu231Lys					RNF135_ENST00000324689.4_Nonsense_Mutation_p.W176*|RNF135_ENST00000443677.2_Nonsense_Mutation_p.W128*|RNF135_ENST00000328381.5_Missense_Mutation_p.E231K	p.W252*	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN			5	770	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	0			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Nonsense_Mutation	SNP	ENST00000328381.5	37	c.756G>A	CCDS11262.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.29|12.29|12.29	1.894688|1.894688|1.894688	0.33442|0.33442|0.33442	.|.|.	.|.|.	ENSG00000181481|ENSG00000181481|ENSG00000181481	ENST00000328381;ENST00000535605|ENST00000434242|ENST00000324689;ENST00000535306;ENST00000443677	T|.|.	0.54866|.|.	0.55|.|.	4.72|4.72|4.72	2.72|2.72|2.72	0.32119|0.32119|0.32119	.|.|.	0.368387|.|.	0.19933|.|.	N|.|.	0.102809|.|.	T|T|.	0.45074|0.45074|.	0.1324|0.1324|.	L|L|L	0.59436|0.59436|0.59436	1.845|1.845|1.845	0.44736|0.44736|0.44736	A|A|A	0.997732|0.997732|0.997732	B|.|.	0.21452|.|.	0.056|.|.	B|.|.	0.15870|.|.	0.014|.|.	T|T|.	0.48387|0.48387|.	-0.9040|-0.9040|.	9|4|.	0.16420|.|0.02654	T|.|T	0.52|.|1	-3.0461|-3.0461|-3.0461	7.9698|7.9698|7.9698	0.30122|0.30122|0.30122	0.196:0.0:0.804:0.0|0.196:0.0:0.804:0.0|0.196:0.0:0.804:0.0	.|.|.	231|.|.	Q8IUD6|.|.	RN135_HUMAN|.|.	K|E|X	231;50|36|176;252;62	ENSP00000328340:E231K|.|.	ENSP00000328340:E231K|.|ENSP00000323693:W176X	E|G|W	+|+|+	1|2|3	0|0|0	RNF135|RNF135|RNF135	26348397|26348397|26348397	0.010000|0.010000|0.010000	0.17322|0.17322|0.17322	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.055000|0.055000|0.055000	0.15305|0.15305|0.15305	0.706000|0.706000|0.706000	0.25690|0.25690|0.25690	0.695000|0.695000|0.695000	0.31675|0.31675|0.31675	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|GGA|TGG		0.483	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		34	50	0	0	0	1	0	34	50				
NPBWR2	2832	broad.mit.edu	37	20	62737767	62737767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62737767C>T	ENST00000369768.1	-	1	757	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	140					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TATCGGTCCACGCTCATCACG	0.647																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(418-420)Gtg>Atg		neuropeptides B/W receptor 2							36.0	32.0	33.0					20																	62737767		2201	4295	6496	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737767C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.418G>A	20.37:g.62737767C>T	ENSP00000358783:p.Val140Met						p.V140M	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	757	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		140					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.418G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582319	0.28180	.	.	ENSG00000125522	ENST00000369768	T	0.44083	0.93	3.9	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	0.283290	0.28431	U	0.015372	T	0.50411	0.1614	M	0.76328	2.33	0.22226	N	0.999276	D	0.65815	0.995	P	0.58970	0.849	T	0.48736	-0.9009	10	0.56958	D	0.05	.	6.5104	0.22218	0.0:0.3751:0.1326:0.4923	.	140	P48146	NPBW2_HUMAN	M	140	ENSP00000358783:V140M	ENSP00000358783:V140M	V	-	1	0	NPBWR2	62208211	0.973000	0.33851	0.000000	0.03702	0.020000	0.10135	0.402000	0.20965	-1.037000	0.03283	-0.339000	0.08088	GTG		0.647	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		16	29	0	0	0	1	0	16	29				
OPRK1	4986	broad.mit.edu	37	8	54147344	54147344	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:54147344G>A	ENST00000265572.3	-	3	882	c.585C>T	c.(583-585)gtC>gtT	p.V195V	OPRK1_ENST00000524278.1_Silent_p.V106V|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V195V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGCCTCCAAGGACTATTGCAG	0.438																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(583-585)gtC>gtT		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						102.0	97.0	98.0					8																	54147344		2203	4300	6503	SO:0001819	synonymous_variant	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147344G>A		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.585C>T	8.37:g.54147344G>A						RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V195V|OPRK1_ENST00000524278.1_Silent_p.V106V	p.V195V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			3	882	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	195					E5RHC9|Q499G4	Silent	SNP	ENST00000265572.3	37	c.585C>T	CCDS6152.1																																																																																				0.438	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			20	67	0	0	0	1	0	20	67				
ADAM21P1	145241	broad.mit.edu	37	14	70713044	70713044	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70713044G>A	ENST00000530196.1	-	0	1474					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AAAAGCACAGGGAGCCCCAGG	0.488																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713044G>A			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713044G>A								NR_003951.1						0	1474	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.488	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		19	29	0	0	0	1	0	19	29				
CD74	972	broad.mit.edu	37	5	149782189	149782189	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:149782189C>T	ENST00000009530.7	-	8	819		c.e8-1		CD74_ENST00000353334.6_Splice_Site|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Splice_Site			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain						activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGTGACTCTGCAAAGGAG	0.592			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.e7-1		CD74 molecule, major histocompatibility complex, class II invariant chain							117.0	97.0	104.0					5																	149782189		2203	4300	6503	SO:0001630	splice_region_variant	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149782189C>T		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.818-1G>A	5.37:g.149782189C>T						CD74_ENST00000009530.7_Splice_Site|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Splice_Site		NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	805	-		all_hematologic(541;0.224)						A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Splice_Site	SNP	ENST00000009530.7	37		CCDS47309.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643516	0.67244	.	.	ENSG00000019582	ENST00000377795;ENST00000353334;ENST00000518797;ENST00000009530	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1886	0.59697	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD74	149762382	1.000000	0.71417	0.921000	0.36526	0.498000	0.33706	3.166000	0.50785	2.384000	0.81235	0.555000	0.69702	.		0.592	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355	Intron	51	71	0	0	0	1	0	51	71				
LPAR4	2846	broad.mit.edu	37	X	78010777	78010777	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78010777C>T	ENST00000435339.3	+	2	797	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	137					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGGATCGTTTCCTGGCCATTG	0.483																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(409-411)ttC>ttT		lysophosphatidic acid receptor 4							234.0	165.0	188.0					X																	78010777		2203	4299	6502	SO:0001819	synonymous_variant	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010777C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.411C>T	X.37:g.78010777C>T						LPAR4_ENST00000373301.2_Silent_p.F137F	p.F137F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	816	+			137					B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	ENST00000435339.3	37	c.411C>T	CCDS14441.1																																																																																				0.483	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		56	87	0	0	0	1	0	56	87				
ZNF366	167465	broad.mit.edu	37	5	71739682	71739682	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739682G>A	ENST00000318442.5	-	5	2626	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CAGAAAAAGAGGGGCCCCGCC	0.498																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2134-2136)ccC>ccT		zinc finger protein 366							63.0	74.0	71.0					5																	71739682		2203	4300	6503	SO:0001819	synonymous_variant	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739682G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2136C>T	5.37:g.71739682G>A							p.P712P	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2626	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	712					Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	c.2136C>T	CCDS4015.1																																																																																				0.498	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			41	85	0	0	0	1	0	41	85				
OR4C3	256144	broad.mit.edu	37	11	48346832	48346832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48346832G>A	ENST00000319856.4	+	1	361	c.340G>A	c.(340-342)Ggg>Agg	p.G114R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	87						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ATTGTATGAGGGGAGAACCAT	0.448																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(340-342)Ggg>Agg		olfactory receptor, family 4, subfamily C, member 3							244.0	231.0	235.0					11																	48346832		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346832G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.340G>A	11.37:g.48346832G>A	ENSP00000321419:p.Gly114Arg						p.G114R	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	361	+			87					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.340G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	2.096	-0.407274	0.04832	.	.	ENSG00000176547	ENST00000319856	T	0.02916	4.11	5.78	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.241112	0.29814	N	0.011131	T	0.01061	0.0035	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49698	-0.8912	10	0.19147	T	0.46	.	7.4211	0.27073	0.3953:0.0:0.6047:0.0	.	87	Q8NH37	OR4C3_HUMAN	R	114	ENSP00000321419:G114R	ENSP00000321419:G114R	G	+	1	0	OR4C3	48303408	0.000000	0.05858	0.158000	0.22627	0.415000	0.31203	-0.144000	0.10280	0.836000	0.34901	0.478000	0.44815	GGG		0.448	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		49	226	0	0	0	1	0	49	226				
HIVEP3	59269	broad.mit.edu	37	1	42046085	42046085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:42046085G>A	ENST00000372583.1	-	4	5269	c.4384C>T	c.(4384-4386)Ctt>Ttt	p.L1462F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1462F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1462F|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L1462F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1462					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCAGCTCAAGTTTTTCATCT	0.527																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(4384-4386)Ctt>Ttt		human immunodeficiency virus type I enhancer binding protein 3							105.0	108.0	107.0					1																	42046085		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046085G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.4384C>T	1.37:g.42046085G>A	ENSP00000361664:p.Leu1462Phe					HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1462F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1462F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1462F	p.L1462F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	5398	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1462					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.4384C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018764	0.19355	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08807	3.06;3.05;3.05;3.06	5.37	4.46	0.54185	.	0.152029	0.30999	N	0.008457	T	0.06917	0.0176	L	0.33485	1.01	0.20196	N	0.999928	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.003	T	0.27872	-1.0061	10	0.33940	T	0.23	-0.0258	8.6946	0.34287	0.2291:0.0:0.7709:0.0	.	1462;1462	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	1462	ENSP00000361665:L1462F;ENSP00000361664:L1462F;ENSP00000247584:L1462F;ENSP00000410828:L1462F	ENSP00000247584:L1462F	L	-	1	0	HIVEP3	41818672	0.451000	0.25705	0.966000	0.40874	0.998000	0.95712	0.454000	0.21827	1.507000	0.48752	0.655000	0.94253	CTT		0.527	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		44	48	0	0	0	1	0	44	48				
TTN	7273	broad.mit.edu	37	2	179639648	179639648	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179639648C>T	ENST00000591111.1	-	29	7014	c.6790G>A	c.(6790-6792)Ggt>Agt	p.G2264S	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.G2218S|TTN_ENST00000342992.6_Splice_Site_p.G2264S|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.G2264S|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Splice_Site_p.G2218S|TTN_ENST00000360870.5_Splice_Site_p.G2264S|TTN_ENST00000460472.2_Splice_Site_p.G2218S			Q8WZ42	TITIN_HUMAN	titin	12587	Ig-like 12.				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)			TGTTGAATACCTTCAACAATA	0.358																																						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.e29+1		titin							93.0	87.0	89.0					2																	179639648		2203	4300	6503	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639648C>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.6790+1G>A	2.37:g.179639648C>T						TTN_ENST00000342992.6_Splice_Site_p.G2264_splice|TTN_ENST00000591111.1_Splice_Site_p.G2264_splice|TTN_ENST00000359218.5_Splice_Site_p.G2218_splice|TTN_ENST00000360870.5_Splice_Site_p.G2264_splice|TTN_ENST00000342175.6_Splice_Site_p.G2218_splice|TTN_ENST00000460472.2_Splice_Site_p.G2218_splice	p.G2264_splice	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)		29	7014	-			1988			Ig-like 12.		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	Splice_Site	SNP	ENST00000591111.1	37	c.6790_splice		.	.	.	.	.	.	.	.	.	.	C	15.84	2.951264	0.53186	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.02;-0.07;-0.05;0.3	5.62	5.62	0.85841	Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.80834	0.4699	M	0.64997	1.995	0.40134	D	0.976755	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;1.0	T	0.79638	-0.1720	8	.	.	.	.	19.653	0.95825	0.0:1.0:0.0:0.0	.	2218;2218;2218;2264;2264	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2264;2218;2218;2218;2218;2264	ENSP00000343764:G2264S;ENSP00000434586:G2218S;ENSP00000340554:G2218S;ENSP00000352154:G2218S;ENSP00000354117:G2264S	.	G	-	1	0	TTN	179347893	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.089000	0.71384	2.648000	0.89879	0.557000	0.71058	GGT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	23	30	0	0	0	1	0	23	30				
FAT4	79633	broad.mit.edu	37	4	126240237	126240237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240237C>T	ENST00000394329.3	+	1	2684	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGACAACTCTCCCCATTTCCT	0.473																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2671-2673)Ccc>Tcc		FAT atypical cadherin 4							45.0	45.0	45.0					4																	126240237		1953	4164	6117	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240237C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2671C>T	4.37:g.126240237C>T	ENSP00000377862:p.Pro891Ser						p.P891S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2684	+			891			Cadherin 8.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2671C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960386	0.74016	.	.	ENSG00000196159	ENST00000394329	D	0.84800	-1.9	5.37	5.37	0.77165	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34314	U	0.004063	D	0.95872	0.8656	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97411	1.0002	10	0.66056	D	0.02	.	19.1285	0.93396	0.0:1.0:0.0:0.0	.	891	Q6V0I7	FAT4_HUMAN	S	891	ENSP00000377862:P891S	ENSP00000377862:P891S	P	+	1	0	FAT4	126459687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.512000	0.84698	0.655000	0.94253	CCC		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	26	0	0	0	1	0	9	26				
SLC7A10	56301	broad.mit.edu	37	19	33702161	33702161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33702161C>T	ENST00000253188.4	-	7	1132	c.986G>A	c.(985-987)gGg>gAg	p.G329E		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	329					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACCATTGATCCCTCCGAAGGT	0.597																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(985-987)gGg>gAg		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							95.0	77.0	83.0					19																	33702161		2203	4300	6503	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33702161C>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.986G>A	19.37:g.33702161C>T	ENSP00000253188:p.Gly329Glu						p.G329E	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			7	1132	-	Esophageal squamous(110;0.137)		329					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.986G>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876726	0.72180	.	.	ENSG00000130876	ENST00000253188	D	0.90261	-2.64	5.45	5.45	0.79879	Amino acid permease domain (1);	0.101185	0.64402	D	0.000002	D	0.96128	0.8738	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96653	0.9483	10	0.87932	D	0	.	18.2649	0.90049	0.0:1.0:0.0:0.0	.	329	Q9NS82	AAA1_HUMAN	E	329	ENSP00000253188:G329E	ENSP00000253188:G329E	G	-	2	0	SLC7A10	38394001	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	7.783000	0.85696	2.577000	0.86979	0.467000	0.42956	GGG		0.597	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		22	45	0	0	0	1	0	22	45				
DHFRL1	200895	broad.mit.edu	37	3	93780144	93780144	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93780144C>A	ENST00000394221.2	-	2	661	c.212G>T	c.(211-213)aGa>aTa	p.R71I	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71I|NSUN3_ENST00000314622.4_5'Flank	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413																																						ENST00000394221.2																			0				kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(211-213)aGa>aTa		dihydrofolate reductase-like 1							121.0	124.0	123.0					3																	93780144		2203	4300	6503	SO:0001583	missense	200895				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	g.chr3:93780144C>A	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.212G>T	3.37:g.93780144C>A	ENSP00000377768:p.Arg71Ile					DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71I	p.R71I	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN			2	661	-			71			DHFR.		D3DN30|Q6P4I9	Missense_Mutation	SNP	ENST00000394221.2	37	c.212G>T	CCDS2926.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146839	0.57151	.	.	ENSG00000178700	ENST00000314636;ENST00000394221;ENST00000496983	D;D;D	0.81739	-1.53;-1.53;-1.53	0.811	0.811	0.18739	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	0.000000	0.85682	U	0.000000	D	0.92675	0.7672	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90755	0.4660	10	0.87932	D	0	-13.7779	7.4961	0.27490	0.0:1.0:0.0:0.0	.	71	Q86XF0	DYRL1_HUMAN	I	71	ENSP00000319170:R71I;ENSP00000377768:R71I;ENSP00000420810:R71I	ENSP00000319170:R71I	R	-	2	0	DHFRL1	95262834	1.000000	0.71417	0.979000	0.43373	0.863000	0.49368	4.387000	0.59626	0.747000	0.32809	0.449000	0.29647	AGA		0.413	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		61	90	1	0	9.77497e-20	1	9.97196e-20	61	90				
SIGLEC8	27181	broad.mit.edu	37	19	51961433	51961433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961433C>T	ENST00000321424.3	-	1	275	c.209G>A	c.(208-210)gGa>gAa	p.G70E	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G70E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G70E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	70	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTCTGTCTCCTGCCCGGAA	0.592																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(208-210)gGa>gAa		sialic acid binding Ig-like lectin 8							148.0	125.0	133.0					19																	51961433		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961433C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.209G>A	19.37:g.51961433C>T	ENSP00000321077:p.Gly70Glu					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G70E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G70E	p.G70E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	275	-		all_neural(266;0.0199)	70			Ig-like V-type.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.209G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.340604	0.24339	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.65364	-0.15;-0.15;-0.15	2.04	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.625902	0.13084	N	0.415027	T	0.71533	0.3351	M	0.66506	2.035	0.09310	N	1	D;P;B	0.76494	0.999;0.909;0.279	D;B;B	0.71184	0.972;0.25;0.316	T	0.56974	-0.7890	10	0.30854	T	0.27	.	7.6512	0.28350	0.0:1.0:0.0:0.0	.	70;70;70	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	E	70	ENSP00000389142:G70E;ENSP00000321077:G70E;ENSP00000339448:G70E	ENSP00000321077:G70E	G	-	2	0	SIGLEC8	56653245	0.000000	0.05858	0.016000	0.15963	0.042000	0.13812	-0.468000	0.06656	1.434000	0.47414	0.508000	0.49915	GGA		0.592	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		43	62	0	0	0	1	0	43	62				
MYO3A	53904	broad.mit.edu	37	10	26436377	26436377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26436377G>A	ENST00000265944.5	+	23	2690	c.2524G>A	c.(2524-2526)Gga>Aga	p.G842R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	842	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAATGCAAGTGGATTCTTAGC	0.408																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(2524-2526)Gga>Aga		myosin IIIA							193.0	162.0	172.0					10																	26436377		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26436377G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2524G>A	10.37:g.26436377G>A	ENSP00000265944:p.Gly842Arg					MYO3A_ENST00000543632.1_Intron	p.G842R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			23	2690	+			842			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2524G>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150852	0.94645	.	.	ENSG00000095777	ENST00000265944	T	0.75477	-0.94	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.095984	0.64402	D	0.000001	D	0.89560	0.6750	M	0.93375	3.41	0.80722	D	1	D	0.65815	0.995	D	0.64595	0.927	D	0.91270	0.5043	10	0.56958	D	0.05	.	19.5226	0.95192	0.0:0.0:1.0:0.0	.	842	Q8NEV4	MYO3A_HUMAN	R	842	ENSP00000265944:G842R	ENSP00000265944:G842R	G	+	1	0	MYO3A	26476383	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.813000	0.99286	2.690000	0.91761	0.555000	0.69702	GGA		0.408	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		27	67	0	0	0	1	0	27	67				
SIGLEC6	946	broad.mit.edu	37	19	52034538	52034538	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52034538C>T	ENST00000425629.3	-	2	457	c.303G>A	c.(301-303)agG>agA	p.R101R	SIGLEC6_ENST00000343300.4_Silent_p.R101R|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000436458.1_Silent_p.R65R|SIGLEC6_ENST00000346477.3_Silent_p.R101R|SIGLEC6_ENST00000391797.3_Silent_p.R101R|SIGLEC6_ENST00000359982.4_Silent_p.R101R	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	101	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGCAGTTCTTCCTTCTGGGAT	0.537																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(301-303)agG>agA		sialic acid binding Ig-like lectin 6							77.0	84.0	82.0					19																	52034538		2187	4292	6479	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034538C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.303G>A	19.37:g.52034538C>T						SIGLEC6_ENST00000436458.1_Silent_p.R65R|SIGLEC6_ENST00000343300.4_Silent_p.R101R|SIGLEC6_ENST00000391797.3_Silent_p.R101R|SIGLEC6_ENST00000425629.3_Silent_p.R101R|SIGLEC6_ENST00000359982.4_Silent_p.R101R	p.R101R	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	371	-		all_neural(266;0.0199)	101			Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.303G>A	CCDS12834.3																																																																																				0.537	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		26	59	0	0	0	1	0	26	59				
CSHL1	1444	broad.mit.edu	37	17	61987974	61987974	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61987974G>A	ENST00000309894.5	-	3	190				CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000392824.4_Silent_p.P107P|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TTACTCTTCTGGGAACCTGGC	0.522																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(319-321)ccC>ccT		chorionic somatomammotropin hormone-like 1																																				SO:0001627	intron_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987974G>A	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.191-79C>T	17.37:g.61987974G>A						CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	p.P107P			Q14406	CSHL_HUMAN			2	382	-			0					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.321C>T	CCDS11652.1																																																																																				0.522	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		30	44	0	0	0	1	0	30	44				
ENOX2	10495	broad.mit.edu	37	X	129813718	129813718	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129813718G>A	ENST00000370927.1	-	4	366	c.345C>T	c.(343-345)ctC>ctT	p.L115L	ENOX2_ENST00000394363.1_Silent_p.L86L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Silent_p.L86L|ENOX2_ENST00000338144.3_Silent_p.L115L			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	115	Pro-rich.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CAGGAGGTGGGAGATCTAAGT	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(343-345)ctC>ctT		ecto-NOX disulfide-thiol exchanger 2							81.0	72.0	75.0					X																	129813718		2203	4300	6503	SO:0001819	synonymous_variant	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129813718G>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.345C>T	X.37:g.129813718G>A						ENOX2_ENST00000370935.1_Silent_p.L86L|ENOX2_ENST00000394363.1_Silent_p.L86L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.L115L	p.L115L	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			7	762	-			115			Pro-rich.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	c.345C>T	CCDS14626.1																																																																																				0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		28	57	0	0	0	1	0	28	57				
RELN	5649	broad.mit.edu	37	7	103301848	103301848	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103301848C>T	ENST00000428762.1	-	12	1575	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	RELN_ENST00000343529.5_Silent_p.G472G|RELN_ENST00000424685.2_Silent_p.G472G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	472					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCTCAGGTTCCCATAACCGG	0.438																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(1414-1416)ggG>ggA		reelin							166.0	118.0	134.0					7																	103301848		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103301848C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1416G>A	7.37:g.103301848C>T						RELN_ENST00000343529.5_Silent_p.G472G|RELN_ENST00000424685.2_Silent_p.G472G	p.G472G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	12	1575	-			472					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.1416G>A	CCDS47680.1																																																																																				0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		25	63	0	0	0	1	0	25	63				
MYO3A	53904	broad.mit.edu	37	10	26500951	26500951	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:26500951G>A	ENST00000265944.5	+	0	5076				MYO3A_ENST00000543632.1_Silent_p.G652G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGCAGCAGGGGCCAAGCAGGC	0.706																																						ENST00000543632.1																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1954-1956)ggG>ggA		myosin IIIA																																				SO:0001624	3_prime_UTR_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500951G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.*59G>A	10.37:g.26500951G>A						MYO3A_ENST00000265944.5_3'UTR	p.G652G			Q8NEV4	MYO3A_HUMAN			17	2016	+			0			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1956G>A	CCDS7148.1																																																																																				0.706	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		7	4	0	0	0	1	0	7	4				
ESRRG	2104	broad.mit.edu	37	1	216850733	216850733	+	Missense_Mutation	SNP	C	C	T	rs199995809	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:216850733C>T	ENST00000408911.3	-	2	310	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	ESRRG_ENST00000366940.2_Missense_Mutation_p.V30I|ESRRG_ENST00000493603.1_Missense_Mutation_p.V30I|ESRRG_ENST00000359162.2_Missense_Mutation_p.V30I|ESRRG_ENST00000366938.2_Missense_Mutation_p.V30I|ESRRG_ENST00000361525.3_Missense_Mutation_p.V30I|ESRRG_ENST00000366937.1_Missense_Mutation_p.V58I|ESRRG_ENST00000463665.1_Missense_Mutation_p.V30I|ESRRG_ENST00000360012.3_Missense_Mutation_p.V30I|ESRRG_ENST00000391890.3_Missense_Mutation_p.V30I|ESRRG_ENST00000493748.1_Missense_Mutation_p.V30I|ESRRG_ENST00000361395.2_Missense_Mutation_p.V30I|ESRRG_ENST00000487276.1_Missense_Mutation_p.V30I	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	53					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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 positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGGTGGTTGACGCTGTCCGTC	0.547													C|||	2	0.000399361	0.0	0.0029	5008	,	,		20442	0.0		0.0	False		,,,				2504	0.0					ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(88-90)Gtc>Atc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98.0	88.0	91.0		88,157,88,88	5.2	1.0	1		91	0,8600		0,0,4300	yes	missense,missense,missense,missense	ESRRG	NM_001134285.2,NM_001438.3,NM_206594.2,NM_206595.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	30/436,53/459,30/436,30/436	216850733	1,13005	2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216850733C>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.157G>A	1.37:g.216850733C>T	ENSP00000386171:p.Val53Ile					ESRRG_ENST00000493603.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366937.1_Missense_Mutation_p.V58I|ESRRG_ENST00000487276.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366940.2_Missense_Mutation_p.V30I|ESRRG_ENST00000361395.2_Missense_Mutation_p.V30I|ESRRG_ENST00000360012.3_Missense_Mutation_p.V30I|ESRRG_ENST00000359162.2_Missense_Mutation_p.V30I|ESRRG_ENST00000366938.2_Missense_Mutation_p.V30I|ESRRG_ENST00000408911.3_Missense_Mutation_p.V53I|ESRRG_ENST00000463665.1_Missense_Mutation_p.V30I|ESRRG_ENST00000361525.3_Missense_Mutation_p.V30I|ESRRG_ENST00000493748.1_Missense_Mutation_p.V30I	p.V30I	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	4	605	-			53					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.88G>A	CCDS41468.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.044	0.563198	0.13498	2.27E-4	0.0	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275;ENST00000469486;ENST00000459955;ENST00000481543	D;D;D;D;D;D;D;D;D;D;D;D;D;D;T;T;T	0.94417	-3.14;-3.14;-3.13;-3.13;-3.14;-3.14;-3.14;-3.14;-3.14;-3.16;-3.42;-3.14;-3.14;-2.96;0.96;0.95;0.94	6.16	5.16	0.70880	.	0.159316	0.56097	D	0.000038	D	0.86936	0.6053	L	0.29908	0.895	0.37977	D	0.933481	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.78081	-0.2343	10	0.13853	T	0.58	.	4.1543	0.10252	0.0:0.7031:0.0:0.2969	.	30;58;53	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	I	30;30;58;53;30;30;30;30;30;30;30;30;30;30;30;30;30;30	ENSP00000355225:V30I;ENSP00000355907:V30I;ENSP00000355904:V58I;ENSP00000386171:V53I;ENSP00000352077:V30I;ENSP00000354584:V30I;ENSP00000355905:V30I;ENSP00000353108:V30I;ENSP00000419594:V30I;ENSP00000375761:V30I;ENSP00000418629:V30I;ENSP00000419155:V30I;ENSP00000417374:V30I;ENSP00000419514:V30I;ENSP00000417900:V30I;ENSP00000420370:V30I;ENSP00000418895:V30I	ENSP00000346386:V30I	V	-	1	0	ESRRG	214917356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.626000	0.37039	2.937000	0.99478	0.650000	0.86243	GTC		0.547	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		4	56	0	0	0	1	0	4	56				
CD300LF	146722	broad.mit.edu	37	17	72691918	72691918	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72691918G>A	ENST00000326165.6	-	6	774	c.663C>T	c.(661-663)acC>acT	p.T221T	CD300LF_ENST00000464910.1_Silent_p.T224T|CD300LF_ENST00000583937.1_Silent_p.T236T|CD300LF_ENST00000581500.1_Missense_Mutation_p.H232Y|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000301573.9_Missense_Mutation_p.H237Y|CD300LF_ENST00000343125.4_Missense_Mutation_p.H187Y|CD300LF_ENST00000361254.4_Missense_Mutation_p.H232Y|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_Missense_Mutation_p.H187Y	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	221					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAAGCTTCGTGGTAGCCTTTT	0.632																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(559-561)Cac>Tac		CD300 molecule-like family member f							97.0	84.0	89.0					17																	72691918		2203	4300	6503	SO:0001819	synonymous_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72691918G>A	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.663C>T	17.37:g.72691918G>A						RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.H232Y|CD300LF_ENST00000326165.6_Silent_p.T221T|CD300LF_ENST00000464910.1_Silent_p.T224T|CD300LF_ENST00000301573.9_Missense_Mutation_p.H237Y|CD300LF_ENST00000583937.1_Silent_p.T236T|CD300LF_ENST00000361254.4_Missense_Mutation_p.H232Y|CD300LF_ENST00000343125.4_Missense_Mutation_p.H187Y	p.H187Y			Q8TDQ1	CLM1_HUMAN			6	835	-			0					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.559C>T	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202295	0.22121	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125	T;T;T	0.05649	3.41;3.59;3.46	4.39	-1.66	0.08265	.	.	.	.	.	T	0.04815	0.0130	.	.	.	0.09310	N	1	P;P;P	0.38020	0.615;0.615;0.615	B;B;B	0.37267	0.245;0.245;0.245	T	0.35798	-0.9774	8	0.87932	D	0	.	2.8067	0.05429	0.2971:0.0:0.3646:0.3383	.	232;187;237	Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5	.;.;.	Y	237;232;187	ENSP00000301573:H237Y;ENSP00000355294:H232Y;ENSP00000343751:H187Y	ENSP00000301573:H237Y	H	-	1	0	CD300LF	70203513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.795000	0.04580	-0.034000	0.13713	-0.140000	0.14226	CAC		0.632	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		21	32	0	0	0	1	0	21	32				
SYNPO2L	79933	broad.mit.edu	37	10	75406700	75406700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75406700G>A	ENST00000394810.2	-	4	2859	c.2710C>T	c.(2710-2712)Ccc>Tcc	p.P904S	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P680S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	904	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					AGCACAGTGGGAGCCAGGGGT	0.642																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2710-2712)Ccc>Tcc		synaptopodin 2-like							37.0	39.0	39.0					10																	75406700		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406700G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2710C>T	10.37:g.75406700G>A	ENSP00000378289:p.Pro904Ser					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P680S	p.P904S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2859	-	Prostate(51;0.0112)		904			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2710C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	2.939	-0.219283	0.06061	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.25749	1.78;2.07	4.93	3.05	0.35203	.	0.087449	0.49305	D	0.000156	T	0.21761	0.0524	L	0.32530	0.975	0.42144	D	0.991526	P;P	0.37276	0.454;0.589	B;B	0.39258	0.154;0.295	T	0.02087	-1.1216	10	0.24483	T	0.36	-4.0692	15.2058	0.73177	0.0:0.2669:0.7331:0.0	.	904;680	Q9H987;Q9H987-2	SYP2L_HUMAN;.	S	680;904	ENSP00000361964:P680S;ENSP00000378289:P904S	ENSP00000361964:P680S	P	-	1	0	SYNPO2L	75076706	1.000000	0.71417	0.664000	0.29753	0.320000	0.28249	5.568000	0.67385	0.638000	0.30545	0.561000	0.74099	CCC		0.642	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		26	48	0	0	0	1	0	26	48				
PIK3CG	5294	broad.mit.edu	37	7	106509197	106509197	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106509197G>T	ENST00000359195.3	+	2	1501	c.1191G>T	c.(1189-1191)agG>agT	p.R397S	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397S	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	397	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTTGCCAAAGGAGAACCAGCC	0.507																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1189-1191)agG>agT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							58.0	63.0	61.0					7																	106509197		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509197G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1191G>T	7.37:g.106509197G>T	ENSP00000352121:p.Arg397Ser					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397S	p.R397S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1501	+			397					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1191G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	1.568	-0.534919	0.04082	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76968	-1.06;-1.06;-1.06	5.73	0.269	0.15631	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.174644	0.64402	D	0.000007	T	0.57154	0.2034	L	0.27053	0.805	0.41761	D	0.98971	B	0.06786	0.001	B	0.15870	0.014	T	0.35919	-0.9769	10	0.10377	T	0.69	-16.4295	7.0409	0.25019	0.3813:0.1204:0.4983:0.0	.	397	P48736	PK3CG_HUMAN	S	397	ENSP00000392258:R397S;ENSP00000419260:R397S;ENSP00000352121:R397S	ENSP00000352121:R397S	R	+	3	2	PIK3CG	106296433	0.912000	0.30974	0.757000	0.31301	0.994000	0.84299	0.230000	0.17852	0.361000	0.24292	0.655000	0.94253	AGG		0.507	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			28	36	1	0	1.75199e-13	1	1.77698e-13	28	36				
RASGRP3	25780	broad.mit.edu	37	2	33768606	33768606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33768606C>T	ENST00000403687.3	+	13	2046	c.1306C>T	c.(1306-1308)Cat>Tat	p.H436Y	RASGRP3_ENST00000407811.1_Missense_Mutation_p.H435Y|RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.H436Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	436	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGATCACGACCATGATGGGTA	0.368																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(1306-1308)Cat>Tat		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							112.0	102.0	105.0					2																	33768606		1849	4105	5954	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33768606C>T	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1306C>T	2.37:g.33768606C>T	ENSP00000384192:p.His436Tyr					RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.H436Y|RASGRP3_ENST00000407811.1_Missense_Mutation_p.H435Y	p.H436Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			13	2046	+	all_hematologic(175;0.115)		436			EF-hand 1.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.1306C>T	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.653932	0.67472	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.68903	-0.36;-0.36;-0.36	5.54	5.54	0.83059	EF-hand-like domain (1);	0.057898	0.64402	D	0.000003	T	0.63271	0.2497	N	0.08118	0	0.49051	D	0.999749	B;B	0.30114	0.269;0.146	P;B	0.46299	0.511;0.209	T	0.66432	-0.5925	10	0.51188	T	0.08	-1.7501	19.4767	0.94992	0.0:1.0:0.0:0.0	.	435;436	D6W583;Q8IV61	.;GRP3_HUMAN	Y	436;436;435	ENSP00000385886:H436Y;ENSP00000384192:H436Y;ENSP00000383917:H435Y	ENSP00000385886:H436Y	H	+	1	0	RASGRP3	33622110	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.982000	0.56909	2.601000	0.87937	0.563000	0.77884	CAT		0.368	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		3	15	0	0	0	1	0	3	15				
RTN3	10313	broad.mit.edu	37	11	63486458	63486458	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63486458T>A	ENST00000377819.5	+	3	638	c.484T>A	c.(484-486)Ttc>Atc	p.F162I	RTN3_ENST00000339997.4_Missense_Mutation_p.F143I|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.F50I|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	162					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCAGCCAGTTTCCCAGAGCA	0.458																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(484-486)Ttc>Atc		reticulon 3							76.0	78.0	77.0					11																	63486458		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63486458T>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.484T>A	11.37:g.63486458T>A	ENSP00000367050:p.Phe162Ile					RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.F143I|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.F50I	p.F162I	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	638	+			162					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.484T>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958775	0.34565	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798;ENST00000545432;ENST00000543552	T;T;T;T;T	0.61980	1.05;1.07;0.87;0.1;0.06	5.77	-1.49	0.08718	.	1.642690	0.03328	N	0.192956	T	0.45657	0.1353	N	0.19112	0.55	0.47341	D	0.99939	B;B;B	0.14438	0.01;0.006;0.01	B;B;B	0.19946	0.016;0.012;0.027	T	0.26950	-1.0088	10	0.87932	D	0	1.8674	3.2711	0.06882	0.2733:0.2573:0.0:0.4694	.	50;162;143	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	I	162;143;50;69;61	ENSP00000367050:F162I;ENSP00000344106:F143I;ENSP00000442733:F50I;ENSP00000441614:F69I;ENSP00000442080:F61I	ENSP00000344106:F143I	F	+	1	0	RTN3	63243034	0.780000	0.28664	0.136000	0.22124	0.897000	0.52465	0.178000	0.16820	-0.518000	0.06452	0.482000	0.46254	TTC		0.458	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		30	38	0	0	0	1	0	30	38				
MAST4	375449	broad.mit.edu	37	5	66461819	66461819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461819C>T	ENST00000403625.2	+	29	7107	c.6812C>T	c.(6811-6813)cCc>cTc	p.P2271L	MAST4_ENST00000404260.3_Missense_Mutation_p.P2274L|MAST4_ENST00000261569.7_Missense_Mutation_p.P2077L|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAAGGTGGGCCCTCTGTCCCA	0.627											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6820-6822)cCc>cTc		microtubule associated serine/threonine kinase family member 4							35.0	43.0	40.0					5																	66461819		2011	4155	6166	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461819C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6812C>T	5.37:g.66461819C>T	ENSP00000385727:p.Pro2271Leu		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000261569.7_Missense_Mutation_p.P2077L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271L|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082L	p.P2274L			O15021	MAST4_HUMAN		Lung(70;0.011)	29	7129	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2274					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6821C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	9.835	1.189413	0.21954	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.66638	-0.19;-0.19;-0.22;-0.22;-0.2	4.7	1.2	0.21068	.	0.714764	0.12662	N	0.449503	T	0.45836	0.1362	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.21895	-1.0232	10	0.18276	T	0.48	-2.9762	4.8786	0.13668	0.1417:0.5656:0.0:0.2927	.	2274;2082	O15021;O15021-3	MAST4_HUMAN;.	L	2274;2271;2082;2092;2092;2077	ENSP00000385048:P2274L;ENSP00000385727:P2271L;ENSP00000384313:P2082L;ENSP00000384099:P2092L;ENSP00000261569:P2077L	ENSP00000261569:P2077L	P	+	2	0	MAST4	66497575	0.000000	0.05858	0.002000	0.10522	0.241000	0.25554	0.765000	0.26546	0.333000	0.23563	0.561000	0.74099	CCC		0.627	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			10	30	0	0	0	1	0	10	30				
FAM53C	51307	broad.mit.edu	37	5	137680634	137680634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137680634C>T	ENST00000239906.5	+	4	685	c.257C>T	c.(256-258)tCc>tTc	p.S86F	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.S86F	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	86										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGGGGAAACTCCCCCAAGGAG	0.622																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(256-258)tCc>tTc		family with sequence similarity 53, member C							89.0	82.0	84.0					5																	137680634		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137680634C>T	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.257C>T	5.37:g.137680634C>T	ENSP00000239906:p.Ser86Phe					FAM53C_ENST00000434981.2_Missense_Mutation_p.S86F|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	p.S86F	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	685	+			86					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.257C>T	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652549	0.67472	.	.	ENSG00000120709	ENST00000434981;ENST00000239906;ENST00000511276	T;T;T	0.50548	0.74;0.74;0.74	5.19	5.19	0.71726	.	0.124959	0.56097	D	0.000034	T	0.61489	0.2351	L	0.46157	1.445	0.80722	D	1	D	0.65815	0.995	D	0.76071	0.987	T	0.62863	-0.6764	10	0.87932	D	0	-12.1418	13.9192	0.63921	0.0:0.8465:0.1535:0.0	.	86	Q9NYF3	FA53C_HUMAN	F	86;86;76	ENSP00000403705:S86F;ENSP00000239906:S86F;ENSP00000427610:S76F	ENSP00000239906:S86F	S	+	2	0	FAM53C	137708533	0.888000	0.30383	0.997000	0.53966	0.885000	0.51271	0.972000	0.29409	2.705000	0.92388	0.655000	0.94253	TCC		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		43	61	0	0	0	1	0	43	61				
TENC1	23371	broad.mit.edu	37	12	53453557	53453557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453557G>A	ENST00000314250.6	+	18	2422	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K	TENC1_ENST00000314276.3_Missense_Mutation_p.R721K|TENC1_ENST00000549700.1_Missense_Mutation_p.R711K|TENC1_ENST00000552570.1_Missense_Mutation_p.R711K|TENC1_ENST00000451358.1_Missense_Mutation_p.R701K|TENC1_ENST00000379902.3_Missense_Mutation_p.R587K|TENC1_ENST00000546602.1_Missense_Mutation_p.R711K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGCTGGAGAGGGAGGCTGGA	0.662																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(2131-2133)aGg>aAg		tensin like C1 domain containing phosphatase (tensin 2)							35.0	31.0	32.0					12																	53453557		2196	4284	6480	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53453557G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2132G>A	12.37:g.53453557G>A	ENSP00000319684:p.Arg711Lys					TENC1_ENST00000451358.1_Missense_Mutation_p.R701K|TENC1_ENST00000552570.1_Missense_Mutation_p.R711K|TENC1_ENST00000314276.3_Missense_Mutation_p.R721K|TENC1_ENST00000546602.1_Missense_Mutation_p.R711K|TENC1_ENST00000379902.3_Missense_Mutation_p.R587K|TENC1_ENST00000549700.1_Missense_Mutation_p.R711K	p.R711K	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	2422	+			711					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.2132G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487867	0.44249	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.3;-3.3;-3.31;-3.31	4.54	4.54	0.55810	.	0.077349	0.53938	D	0.000055	D	0.92485	0.7614	N	0.19112	0.55	0.34888	D	0.745263	P;D;P;D	0.56035	0.902;0.974;0.841;0.974	P;D;P;D	0.70487	0.87;0.953;0.745;0.969	D	0.92289	0.5840	10	0.25751	T	0.34	.	12.9913	0.58620	0.0:0.0:1.0:0.0	.	711;711;711;721	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	K	587;721;711;701;711;711;711	ENSP00000369232:R587K;ENSP00000319756:R721K;ENSP00000319684:R711K;ENSP00000393362:R701K;ENSP00000449363:R711K;ENSP00000447021:R711K;ENSP00000449361:R711K	ENSP00000319684:R711K	R	+	2	0	TENC1	51739824	0.994000	0.37717	1.000000	0.80357	0.976000	0.68499	2.362000	0.44169	2.528000	0.85240	0.563000	0.77884	AGG		0.662	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		14	25	0	0	0	1	0	14	25				
MAP1S	55201	broad.mit.edu	37	19	17838567	17838567	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17838567C>T	ENST00000324096.4	+	5	2525	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.P766S|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	792	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGAGTCCCTGCCCACCCTGTC	0.687																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(2374-2376)Ccc>Tcc		microtubule-associated protein 1S							23.0	23.0	23.0					19																	17838567		2197	4298	6495	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17838567C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2374C>T	19.37:g.17838567C>T	ENSP00000325313:p.Pro792Ser					MAP1S_ENST00000544059.2_Missense_Mutation_p.P766S|MAP1S_ENST00000597681.1_3'UTR	p.P792S	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	2525	+			792			Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.2374C>T	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212105	0.58452	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18338	2.22;2.22	4.67	4.67	0.58626	.	0.000000	0.50627	D	0.000107	T	0.36991	0.0987	L	0.54323	1.7	0.33091	D	0.537886	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.50980	-0.8763	10	0.72032	D	0.01	-26.4861	15.0571	0.71921	0.0:1.0:0.0:0.0	.	766;792	B4DH53;Q66K74	.;MAP1S_HUMAN	S	792;766	ENSP00000325313:P792S;ENSP00000439243:P766S	ENSP00000325313:P792S	P	+	1	0	MAP1S	17699567	0.349000	0.24870	0.998000	0.56505	0.302000	0.27658	1.875000	0.39578	2.133000	0.65898	0.655000	0.94253	CCC		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		7	7	0	0	0	1	0	7	7				
EGFLAM	133584	broad.mit.edu	37	5	38407185	38407185	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:38407185T>A	ENST00000354891.3	+	8	1430	c.1084T>A	c.(1084-1086)Tac>Aac	p.Y362N	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y128N|EGFLAM_ENST00000322350.5_Missense_Mutation_p.Y362N	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	362	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCAATGACTACACCTGGGG	0.537																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1084-1086)Tac>Aac		EGF-like, fibronectin type III and laminin G domains							73.0	71.0	72.0					5																	38407185		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407185T>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1084T>A	5.37:g.38407185T>A	ENSP00000346964:p.Tyr362Asn					EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y128N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y362N	p.Y362N	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			8	1430	+	all_lung(31;0.000385)		362			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1084T>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255324	0.80135	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79352	0.84;0.69;-1.26	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.058967	0.64402	D	0.000001	D	0.85566	0.5726	M	0.63843	1.955	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.553	D;D;P	0.91635	0.999;0.999;0.542	T	0.82404	-0.0474	10	0.19147	T	0.46	-1.6563	16.3453	0.83126	0.0:0.0:0.0:1.0	.	128;362;362	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	N	362;362;128;128	ENSP00000346964:Y362N;ENSP00000313084:Y362N;ENSP00000337607:Y128N	ENSP00000313084:Y362N	Y	+	1	0	EGFLAM	38442942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.310000	0.78947	2.261000	0.74972	0.533000	0.62120	TAC		0.537	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		28	37	0	0	0	1	0	28	37				
RPN1	6184	broad.mit.edu	37	3	128348886	128348886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128348886T>A	ENST00000296255.3	-	5	992	c.944A>T	c.(943-945)gAa>gTa	p.E315V	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.E143V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	315					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGGCCGGATTTCCATCTCTAC	0.493			T	EVI1	AML																																	ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(943-945)gAa>gTa		ribophorin I							93.0	88.0	90.0					3																	128348886		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128348886T>A		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.944A>T	3.37:g.128348886T>A	ENSP00000296255:p.Glu315Val					RPN1_ENST00000497289.1_Missense_Mutation_p.E143V	p.E315V	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	5	992	-			315					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.944A>T	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854632	0.91355	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.85197	2.74	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.82583	-0.0385	9	0.48119	T	0.1	-18.0077	15.2926	0.73879	0.0:0.0:0.0:1.0	.	315	P04843	RPN1_HUMAN	V	315;143;86;289	.	ENSP00000296255:E315V	E	-	2	0	RPN1	129831576	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.587000	0.82613	2.014000	0.59158	0.482000	0.46254	GAA		0.493	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		16	38	0	0	0	1	0	16	38				
TTN	7273	broad.mit.edu	37	2	179644006	179644006	+	Missense_Mutation	SNP	C	C	T	rs199889888		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179644006C>T	ENST00000591111.1	-	23	4137	c.3913G>A	c.(3913-3915)Ggg>Agg	p.G1305R	TTN_ENST00000342175.6_Missense_Mutation_p.G1259R|TTN_ENST00000342992.6_Missense_Mutation_p.G1305R|TTN_ENST00000589042.1_Missense_Mutation_p.G1305R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G1259R|TTN_ENST00000360870.5_Missense_Mutation_p.G1305R|TTN_ENST00000460472.2_Missense_Mutation_p.G1259R			Q8WZ42	TITIN_HUMAN	titin	33502	Ig-like 5.				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)			ACACCCATCCCCTCAAGAATT	0.348																																						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.(3913-3915)Ggg>Agg		titin							52.0	54.0	53.0					2																	179644006		2203	4298	6501	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644006C>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.3913G>A	2.37:g.179644006C>T	ENSP00000465570:p.Gly1305Arg					TTN_ENST00000342992.6_Missense_Mutation_p.G1305R|TTN_ENST00000591111.1_Missense_Mutation_p.G1305R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G1259R|TTN_ENST00000360870.5_Missense_Mutation_p.G1305R|TTN_ENST00000342175.6_Missense_Mutation_p.G1259R|TTN_ENST00000460472.2_Missense_Mutation_p.G1259R	p.G1305R	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)		23	4137	-			1305			Ig-like 5.		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.3913G>A		.	.	.	.	.	.	.	.	.	.	C	16.50	3.139995	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93327	0.7873	H	0.95539	3.685	0.47819	D	0.999528	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.94658	0.7845	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1259;1259;1259;1305;1305	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1305;1259;1259;1259;1259;1305	ENSP00000343764:G1305R;ENSP00000434586:G1259R;ENSP00000340554:G1259R;ENSP00000352154:G1259R;ENSP00000354117:G1305R	ENSP00000340554:G1259R	G	-	1	0	TTN	179352251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.711000	0.92665	0.655000	0.94253	GGG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	49	0	0	0	1	0	17	49				
SIM2	6493	broad.mit.edu	37	21	38072052	38072052	+	Silent	SNP	G	G	A	rs566219140		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:38072052G>A	ENST00000290399.6	+	1	619	c.6G>A	c.(4-6)aaG>aaA	p.K2K	AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Silent_p.K2K	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	2	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCGCGATGAAGGAGAAGTCCA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		12394	0.0		0.0	False		,,,				2504	0.001					ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(4-6)aaG>aaA		single-minded family bHLH transcription factor 2							108.0	87.0	94.0					21																	38072052		2202	4300	6502	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38072052G>A		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.6G>A	21.37:g.38072052G>A						AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Silent_p.K2K	p.K2K	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			1	619	+			2					O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.6G>A	CCDS13646.1																																																																																				0.672	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		14	3	0	0	0	1	0	14	3				
NCKAP5	344148	broad.mit.edu	37	2	133540565	133540565	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133540565G>A	ENST00000409261.1	-	14	4192	c.3819C>T	c.(3817-3819)gcC>gcT	p.A1273A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1273A|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1273										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTGGCTGCGGGCTTTGGCGC	0.532																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3817-3819)gcC>gcT		NCK-associated protein 5							97.0	98.0	98.0					2																	133540565		2020	4179	6199	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540565G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3819C>T	2.37:g.133540565G>A						NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1273A	p.A1273A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4192	-			1273					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3819C>T	CCDS46418.1																																																																																				0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		39	66	0	0	0	1	0	39	66				
TRPA1	8989	broad.mit.edu	37	8	72958801	72958801	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72958801T>G	ENST00000262209.4	-	17	2215	c.2008A>C	c.(2008-2010)Acc>Ccc	p.T670P	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	670					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTTTTTTTGGTGAATTCTAAT	0.294																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2008-2010)Acc>Ccc		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						139.0	152.0	148.0					8																	72958801		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72958801T>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2008A>C	8.37:g.72958801T>G	ENSP00000262209:p.Thr670Pro					RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.T670P	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		17	2215	-			670					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2008A>C	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.301105	0.23650	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.79033	-1.23;-1.23	4.36	4.36	0.52297	.	0.378811	0.28403	N	0.015480	T	0.78496	0.4292	M	0.62723	1.935	0.09310	N	1	P	0.51351	0.944	P	0.48114	0.567	T	0.70901	-0.4746	10	0.31617	T	0.26	-16.2858	13.9975	0.64411	0.0:0.0:0.0:1.0	.	670	O75762	TRPA1_HUMAN	P	522;670	ENSP00000428151:T522P;ENSP00000262209:T670P	ENSP00000262209:T670P	T	-	1	0	TRPA1	73121355	0.991000	0.36638	0.191000	0.23289	0.086000	0.17979	2.923000	0.48868	1.945000	0.56424	0.454000	0.30748	ACC		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		29	42	0	0	0	1	0	29	42				
NBN	4683	broad.mit.edu	37	8	90958432	90958432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:90958432G>A	ENST00000265433.3	-	13	2160	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F	NBN_ENST00000409330.1_Missense_Mutation_p.S587F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	669					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGATTTCTGGAAGTAGAGTT	0.328								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(2005-2007)tCc>tTc	Homologous recombination	nibrin							111.0	112.0	112.0					8																	90958432		2203	4298	6501	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90958432G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2006C>T	8.37:g.90958432G>A	ENSP00000265433:p.Ser669Phe					NBN_ENST00000409330.1_Missense_Mutation_p.S587F	p.S669F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		13	2160	-			669					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.2006C>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	6.532	0.466405	0.12402	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.60672	0.18;0.17	5.56	1.55	0.23275	.	0.463209	0.25277	N	0.031824	T	0.34600	0.0903	L	0.29908	0.895	0.09310	N	0.999995	P;P	0.43287	0.802;0.65	B;B	0.33196	0.15;0.159	T	0.29212	-1.0019	10	0.66056	D	0.02	0.7939	4.424	0.11495	0.0698:0.3235:0.3188:0.2879	.	669;669	A6H8Y5;O60934	.;NBN_HUMAN	F	669;587	ENSP00000265433:S669F;ENSP00000386924:S587F	ENSP00000265433:S669F	S	-	2	0	NBN	91027608	0.323000	0.24643	0.222000	0.23844	0.099000	0.18886	0.448000	0.21726	0.064000	0.16427	-0.291000	0.09656	TCC		0.328	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		20	54	0	0	0	1	0	20	54				
FBXO34	55030	broad.mit.edu	37	14	55818703	55818703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:55818703T>C	ENST00000313833.4	+	2	1840	c.1595T>C	c.(1594-1596)gTa>gCa	p.V532A	FBXO34_ENST00000440021.1_Missense_Mutation_p.V532A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	532										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAGCCATTTGTACTGCCAGCC	0.498																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1594-1596)gTa>gCa		F-box protein 34							128.0	124.0	126.0					14																	55818703		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818703T>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1595T>C	14.37:g.55818703T>C	ENSP00000313159:p.Val532Ala					FBXO34_ENST00000440021.1_Missense_Mutation_p.V532A	p.V532A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1840	+			532					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1595T>C	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.785885	0.00078	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16597	2.33;2.33	5.23	-5.21	0.02815	.	1.098060	0.07076	N	0.836227	T	0.07052	0.0179	N	0.20401	0.57	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	10	0.02654	T	1	-22.4612	5.4425	0.16517	0.4014:0.4179:0.0:0.1807	.	532	Q9NWN3	FBX34_HUMAN	A	532	ENSP00000313159:V532A;ENSP00000394117:V532A	ENSP00000313159:V532A	V	+	2	0	FBXO34	54888456	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.892000	0.04131	-0.830000	0.04262	-0.274000	0.10170	GTA		0.498	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			54	91	0	0	0	1	0	54	91				
EN2	2020	broad.mit.edu	37	7	155251019	155251019	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:155251019G>A	ENST00000297375.4	+	0	196				AC008060.8_ENST00000419225.1_lincRNA	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2						hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGCCGAAGGCTGATTTGGA	0.701																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4								engrailed homeobox 2																																						2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155251019G>A		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.-54G>A	7.37:g.155251019G>A								NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	196	+	all_neural(206;0.119)	all_hematologic(28;0.0592)						A4D252|Q549U3|Q9UD58	Translation_Start_Site	SNP	ENST00000297375.4	37		CCDS5940.1																																																																																				0.701	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		6	8	0	0	0	1	0	6	8				
RAB11FIP2	22841	broad.mit.edu	37	10	119799987	119799987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799987G>A	ENST00000355624.3	-	2	882	c.443C>T	c.(442-444)aCc>aTc	p.T148I	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.T148I|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CATACTTGCGGTCATATTGTT	0.333																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(442-444)aCc>aTc		RAB11 family interacting protein 2 (class I)							127.0	108.0	114.0					10																	119799987		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799987G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.443C>T	10.37:g.119799987G>A	ENSP00000347839:p.Thr148Ile					RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.T148I	p.T148I	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	882	-		Colorectal(252;0.235)	148					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.443C>T	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233333	0.79688	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.42513	0.97;0.97	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.045875	0.85682	D	0.000000	T	0.59307	0.2184	M	0.85197	2.74	0.80722	D	1	P;P	0.46512	0.879;0.879	P;P	0.47162	0.54;0.54	T	0.67432	-0.5672	10	0.72032	D	0.01	-22.1	19.5154	0.95162	0.0:0.0:1.0:0.0	.	148;148	Q3I768;Q7L804	.;RFIP2_HUMAN	I	148	ENSP00000347839:T148I;ENSP00000358200:T148I	ENSP00000347839:T148I	T	-	2	0	RAB11FIP2	119789977	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.813000	0.99286	2.685000	0.91497	0.655000	0.94253	ACC		0.333	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		19	32	0	0	0	1	0	19	32				
KIAA0100	9703	broad.mit.edu	37	17	26964946	26964946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26964946C>T	ENST00000528896.2	-	14	1753	c.1679G>A	c.(1678-1680)aGg>aAg	p.R560K	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R417K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R417K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	560						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGAAGAGTGCCTAGAGACAGC	0.478																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1678-1680)aGg>aAg		KIAA0100							104.0	90.0	94.0					17																	26964946		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26964946C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1679G>A	17.37:g.26964946C>T	ENSP00000436773:p.Arg560Lys					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R417K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R417K	p.R560K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			14	1753	-	Lung NSC(42;0.00431)		560					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1679G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	2.918	-0.223736	0.06061	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.21734	1.99;1.99	5.76	3.64	0.41730	FMP27, N-terminal (1);	0.591567	0.19338	N	0.116737	T	0.08802	0.0218	N	0.14661	0.345	0.09310	N	0.999998	B	0.23128	0.08	B	0.19666	0.026	T	0.36696	-0.9737	10	0.05436	T	0.98	.	5.7637	0.18215	0.0:0.6707:0.1602:0.1691	.	560	Q14667	K0100_HUMAN	K	560;560;560;417	ENSP00000436773:R560K;ENSP00000446443:R417K	ENSP00000005905:R560K	R	-	2	0	KIAA0100	23989073	0.002000	0.14202	0.982000	0.44146	0.902000	0.53008	0.326000	0.19646	1.417000	0.47077	0.563000	0.77884	AGG		0.478	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		21	28	0	0	0	1	0	21	28				
BMP7	655	broad.mit.edu	37	20	55803323	55803323	+	Silent	SNP	C	C	T	rs139592459	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55803323C>T	ENST00000395863.3	-	2	1078	c.573G>A	c.(571-573)cgG>cgA	p.R191R	BMP7_ENST00000395864.3_Silent_p.R191R|BMP7_ENST00000450594.2_Silent_p.R191R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	191					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|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 localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AAACGCTGATCCGGAACGTCT	0.552																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(571-573)cgG>cgA		bone morphogenetic protein 7							130.0	131.0	131.0					20																	55803323		2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55803323C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.573G>A	20.37:g.55803323C>T						BMP7_ENST00000450594.2_Silent_p.R191R|BMP7_ENST00000395864.3_Silent_p.R191R	p.R191R	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		2	1078	-	all_lung(29;0.0133)|Melanoma(10;0.242)		191					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.573G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543531	0.27563	.	.	ENSG00000101144	ENST00000433911	.	.	.	5.63	1.44	0.22558	.	.	.	.	.	T	0.60663	0.2286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54774	-0.8243	4	.	.	.	.	11.4347	0.50062	0.0:0.5517:0.3828:0.0656	.	.	.	.	N	77	.	.	D	-	1	0	BMP7	55236730	0.986000	0.35501	0.998000	0.56505	0.989000	0.77384	0.232000	0.17891	0.038000	0.15604	-0.165000	0.13383	GAT		0.552	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			64	113	0	0	0	1	0	64	113				
NDN	4692	broad.mit.edu	37	15	23932306	23932306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932306G>A	ENST00000331837.4	-	1	144	c.59C>T	c.(58-60)tCc>tTc	p.S20F		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					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)		GTGCACCTCGGAGTTGGGGGC	0.667									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.(58-60)tCc>tTc		necdin, melanoma antigen (MAGE) family member							22.0	21.0	22.0					15																	23932306		1724	3425	5149	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.chr15:23932306G>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.59C>T	15.37:g.23932306G>A	ENSP00000332643:p.Ser20Phe						p.S20F	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	144	-		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)	20					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.59C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718676	0.30503	.	.	ENSG00000182636	ENST00000331837	T	0.02472	4.28	3.75	0.492	0.16872	.	3.865590	0.00714	N	0.000847	T	0.02970	0.0088	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.31751	0.135	T	0.49579	-0.8925	10	0.62326	D	0.03	.	11.9942	0.53191	0.0:0.5084:0.4916:0.0	.	20	Q99608	NECD_HUMAN	F	20	ENSP00000332643:S20F	ENSP00000332643:S20F	S	-	2	0	NDN	21483399	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.235000	0.17948	-0.014000	0.14175	0.561000	0.74099	TCC		0.667	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		14	10	0	0	0	1	0	14	10				
GLI3	2737	broad.mit.edu	37	7	42017192	42017192	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:42017192G>A	ENST00000395925.3	-	12	1861	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	593					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGTTTGGCGCGATCAGAGGCA	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1777-1779)Cgc>Tgc		GLI family zinc finger 3							222.0	183.0	196.0					7																	42017192		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017192G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1777C>T	7.37:g.42017192G>A	ENSP00000379258:p.Arg593Cys		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_ENST00000479210.1_5'UTR	p.R593C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			12	1861	-			593					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1777C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304426	0.60305	.	.	ENSG00000106571	ENST00000395925	T	0.36157	1.27	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	N	0.21097	0.63	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.41052	-0.9530	10	0.87932	D	0	.	14.1349	0.65281	0.0:0.0:0.7366:0.2634	.	593	P10071	GLI3_HUMAN	C	593	ENSP00000379258:R593C	ENSP00000379258:R593C	R	-	1	0	GLI3	41983717	1.000000	0.71417	0.932000	0.37286	0.426000	0.31534	3.821000	0.55700	2.745000	0.94114	0.655000	0.94253	CGC		0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		21	33	0	0	0	1	0	21	33				
PDE6B	5158	broad.mit.edu	37	4	657938	657938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:657938C>T	ENST00000496514.1	+	17	2078	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.S686F|PDE6B_ENST00000429163.2_Missense_Mutation_p.S407F			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	686					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTGGATGAGTCCAAGAACTAC	0.617																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2056-2058)tCc>tTc		phosphodiesterase 6B, cGMP-specific, rod, beta							114.0	111.0	112.0					4																	657938		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:657938C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2057C>T	4.37:g.657938C>T	ENSP00000420295:p.Ser686Phe					PDE6B_ENST00000496514.1_Missense_Mutation_p.S686F|PDE6B_ENST00000429163.2_Missense_Mutation_p.S407F	p.S686F	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			17	2100	+			686					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2057C>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409431	0.62399	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163;ENST00000471824	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	3.94	3.94	0.45596	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.128152	0.56097	D	0.000040	D	0.83339	0.5233	L	0.51422	1.61	0.54753	D	0.999988	P;P	0.44380	0.834;0.801	P;P	0.49421	0.61;0.476	D	0.84223	0.0462	10	0.48119	T	0.1	.	13.8293	0.63370	0.0:1.0:0.0:0.0	.	686;686	P35913;P35913-2	PDE6B_HUMAN;.	F	686;686;407;46	ENSP00000255622:S686F;ENSP00000420295:S686F;ENSP00000406334:S407F;ENSP00000417852:S46F	ENSP00000255622:S686F	S	+	2	0	PDE6B	647938	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	5.430000	0.66501	1.885000	0.54596	0.484000	0.47621	TCC		0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		32	34	0	0	0	1	0	32	34				
ISM2	145501	broad.mit.edu	37	14	77942412	77942412	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77942412G>A	ENST00000342219.4	-	7	1298	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	ISM2_ENST00000429906.1_Silent_p.F333F|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Silent_p.F326F|ISM2_ENST00000412904.1_Silent_p.F333F	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	414	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACTTGATTAGGAAGTCGCTCT	0.602																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(976-978)ttC>ttT		isthmin 2							48.0	50.0	49.0					14																	77942412		2202	4300	6502	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77942412G>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1242C>T	14.37:g.77942412G>A						ISM2_ENST00000429906.1_Silent_p.F333F|ISM2_ENST00000342219.4_Silent_p.F414F|ISM2_ENST00000412904.1_Silent_p.F333F|ISM2_ENST00000493585.1_3'UTR	p.F326F			Q6H9L7	ISM2_HUMAN			8	1369	-			414					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Silent	SNP	ENST00000342219.4	37	c.978C>T	CCDS9864.1																																																																																				0.602	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		30	41	0	0	0	1	0	30	41				
MYH10	4628	broad.mit.edu	37	17	8398529	8398529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8398529C>T	ENST00000269243.4	-	29	4027	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K	MYH10_ENST00000379980.4_Missense_Mutation_p.E1313K|MYH10_ENST00000360416.3_Missense_Mutation_p.E1328K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1318K	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1297					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCTGCTTCTTCCAGAAGGGTG	0.423																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3982-3984)Gaa>Aaa		myosin, heavy chain 10, non-muscle							120.0	115.0	117.0					17																	8398529		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8398529C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3889G>A	17.37:g.8398529C>T	ENSP00000269243:p.Glu1297Lys					MYH10_ENST00000379980.4_Missense_Mutation_p.E1313K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1318K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1297K	p.E1328K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			31	4120	-			1297					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3982G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203883	0.79127	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.88	4.88	0.63580	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.78456	2.415	0.80722	D	1	B;B;B	0.29571	0.249;0.209;0.249	B;B;B	0.36030	0.216;0.138;0.216	D	0.84637	0.0693	10	0.72032	D	0.01	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	1306;1328;1297	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	K	1297;1328;1318;1313	ENSP00000269243:E1297K;ENSP00000353590:E1328K;ENSP00000379539:E1318K;ENSP00000369315:E1313K	ENSP00000269243:E1297K	E	-	1	0	MYH10	8339254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.852000	0.48310	2.688000	0.91661	0.655000	0.94253	GAA		0.423	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			22	43	0	0	0	1	0	22	43				
TRAV6	6956	broad.mit.edu	37	14	22237280	22237280	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22237280C>T	ENST00000390428.3	+	0	364									T cell receptor alpha variable 6																		TCACAGCCTCCCAGCCTGCAG	0.463																																						ENST00000390428.3																			0																				151.0	152.0	152.0					14																	22237280		2009	4181	6190			6956							g.chr14:22237280C>T	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22237280C>T														0	364	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.463	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		58	129	0	0	0	1	0	58	129				
GAS8	2622	broad.mit.edu	37	16	90095716	90095716	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90095716G>A	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.P12L|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ggggtgacctggagactcctg	0.582																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(34-36)cCa>cTa		chromosome 16 open reading frame 3							43.0	49.0	47.0					16																	90095716		2188	4284	6472	SO:0001627	intron_variant	750							g.chr16:90095716G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1586G>A	16.37:g.90095716G>A						GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron	p.P12L	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	593	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	12					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.35C>T	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631474	0.14322	.	.	ENSG00000221819	ENST00000408886	T	0.56275	0.47	1.06	1.06	0.20224	.	.	.	.	.	T	0.27063	0.0663	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.19353	-1.0308	6	.	.	.	.	5.4615	0.16619	0.0:0.0:1.0:0.0	.	.	.	.	L	12	ENSP00000386218:P12L	.	P	-	2	0	C16orf3	88623217	0.017000	0.18338	0.010000	0.14722	0.013000	0.08279	1.330000	0.33781	0.867000	0.35654	0.462000	0.41574	CCA		0.582	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			24	43	0	0	0	1	0	24	43				
PRSS50	29122	broad.mit.edu	37	3	46755991	46755991	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46755991C>T	ENST00000460241.1	-	9	2141	c.471G>A	c.(469-471)tgG>tgA	p.W157*	PRSS50_ENST00000315170.7_Splice_Site_p.W157*			Q9UI38	TSP50_HUMAN	protease, serine, 50	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TAACATCACGCCTAGGGGGGC	0.637																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.e9-1		protease, serine, 50							41.0	30.0	34.0					3																	46755991		2195	4300	6495	SO:0001630	splice_region_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46755991C>T	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.471-1G>A	3.37:g.46755991C>T						PRSS50_ENST00000315170.7_Splice_Site_p.W157_splice	p.W157_splice			Q9UI38	TSP50_HUMAN			9	2141	-			157			Peptidase S1.			Splice_Site	SNP	ENST00000460241.1	37	c.470_splice	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836597	0.32421	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	.	.	.	3.43	2.52	0.30459	.	1.180830	0.06460	N	0.729303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.6812	0.34209	0.0:0.7659:0.2341:0.0	.	.	.	.	X	71;157;157	.	ENSP00000326598:W157X	W	-	3	0	PRSS50	46730995	0.927000	0.31430	0.133000	0.22050	0.104000	0.19210	1.838000	0.39211	0.986000	0.38683	0.555000	0.69702	TGG		0.637	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1		Nonsense_Mutation	6	6	0	0	0	1	0	6	6				
CMTM5	116173	broad.mit.edu	37	14	23848308	23848308	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848308G>A	ENST00000339180.4	+	4	765	c.549G>A	c.(547-549)cgG>cgA	p.R183R	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Silent_p.R65R|CMTM5_ENST00000359320.3_Silent_p.R116R|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Silent_p.R78R			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TGACCTCCCGGGACGGAGCTG	0.582																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(346-348)cgG>cgA		CKLF-like MARVEL transmembrane domain containing 5							88.0	75.0	79.0					14																	23848308		2203	4300	6503	SO:0001819	synonymous_variant	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23848308G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.549G>A	14.37:g.23848308G>A						CMTM5_ENST00000555731.1_Silent_p.R78R|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.R183R|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Silent_p.R65R	p.R116R	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	3	792	+	all_cancers(95;2e-05)		183			MARVEL.		E9PH91|Q5PY48	Silent	SNP	ENST00000339180.4	37	c.348G>A																																																																																					0.582	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			8	22	0	0	0	1	0	8	22				
TRPM8	79054	broad.mit.edu	37	2	234871983	234871983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234871983C>T	ENST00000324695.4	+	13	1751	c.1711C>T	c.(1711-1713)Cag>Tag	p.Q571*	TRPM8_ENST00000433712.2_Nonsense_Mutation_p.Q259*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	571					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGCCATTCTTCAGAATAAGAA	0.463																																						ENST00000324695.4																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(1711-1713)Cag>Tag		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						75.0	68.0	70.0					2																	234871983		2203	4300	6503	SO:0001587	stop_gained	79054					integral to membrane		g.chr2:234871983C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1711C>T	2.37:g.234871983C>T	ENSP00000323926:p.Gln571*					TRPM8_ENST00000433712.2_Nonsense_Mutation_p.Q259*	p.Q571*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	13	1751	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	571					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Nonsense_Mutation	SNP	ENST00000324695.4	37	c.1711C>T	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	39	7.752198	0.98471	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-30.2113	17.8245	0.88660	0.0:1.0:0.0:0.0	.	.	.	.	X	571;259	.	ENSP00000323926:Q571X	Q	+	1	0	TRPM8	234536722	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.506000	0.73712	2.614000	0.88457	0.655000	0.94253	CAG		0.463	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		18	9	0	0	0	1	0	18	9				
ABRA	137735	broad.mit.edu	37	8	107782412	107782412	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782412G>A	ENST00000311955.3	-	1	61	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTTCGCCCGGAGCCATGCTG	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(7-9)Ccg>Tcg		actin-binding Rho activating protein							31.0	35.0	33.0					8																	107782412		2202	4291	6493	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782412G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.7C>T	8.37:g.107782412G>A	ENSP00000311436:p.Pro3Ser						p.P3S	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	61	-			3						Missense_Mutation	SNP	ENST00000311955.3	37	c.7C>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416563	0.62511	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.66	5.66	0.87406	.	0.350088	0.31051	N	0.008354	T	0.67230	0.2871	L	0.60455	1.87	0.34773	D	0.733891	D	0.57257	0.979	P	0.52957	0.714	T	0.77256	-0.2655	9	0.87932	D	0	-3.7204	17.9308	0.88996	0.0:0.0:1.0:0.0	.	3	Q8N0Z2	ABRA_HUMAN	S	3	.	ENSP00000311436:P3S	P	-	1	0	ABRA	107851588	1.000000	0.71417	0.991000	0.47740	0.642000	0.38348	3.335000	0.52105	2.648000	0.89879	0.655000	0.94253	CCG		0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		10	38	0	0	0	1	0	10	38				
TJP3	27134	broad.mit.edu	37	19	3740700	3740700	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3740700C>T	ENST00000541714.2	+	14	2244	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	TJP3_ENST00000539908.2_Silent_p.D558D|TJP3_ENST00000262968.9_Silent_p.D627D|TJP3_ENST00000382008.3_Silent_p.D608D|TJP3_ENST00000589378.1_Silent_p.D603D|TJP3_ENST00000587686.1_Silent_p.D613D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	594	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGAGGACCTCTCAGCTC	0.701																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1780-1782)gaC>gaT		tight junction protein 3							22.0	25.0	24.0					19																	3740700		2201	4300	6501	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3740700C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1782C>T	19.37:g.3740700C>T						TJP3_ENST00000262968.9_Silent_p.D627D|TJP3_ENST00000589378.1_Silent_p.D603D|TJP3_ENST00000539908.2_Silent_p.D558D|TJP3_ENST00000587686.1_Silent_p.D613D|TJP3_ENST00000382008.3_Silent_p.D608D	p.D594D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	14	2244	+			608			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.1782C>T	CCDS32873.2																																																																																				0.701	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			6	4	0	0	0	1	0	6	4				
CIITA	4261	broad.mit.edu	37	16	11000703	11000703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000703C>T	ENST00000324288.8	+	11	1487	c.1354C>T	c.(1354-1356)Ccc>Tcc	p.P452S	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	452	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTTCTCTGTCCCCTGCCATTG	0.632			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1354-1356)Ccc>Tcc		class II, major histocompatibility complex, transactivator							60.0	58.0	59.0					16																	11000703		2194	4298	6492	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000703C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1354C>T	16.37:g.11000703C>T	ENSP00000316328:p.Pro452Ser					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.P452S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1487	+			452			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.1354C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803045	0.31869	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.79845	-1.31	5.03	2.93	0.34026	NACHT nucleoside triphosphatase (1);	0.665589	0.13383	N	0.392002	T	0.78629	0.4313	N	0.21282	0.65	0.26754	N	0.970143	D;P;D;D	0.89917	0.973;0.872;0.983;1.0	P;P;P;D	0.91635	0.764;0.739;0.652;0.999	T	0.65578	-0.6134	10	0.15066	T	0.55	.	7.4535	0.27252	0.1639:0.4762:0.3599:0.0	.	452;452;404;452	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	S	452;404	ENSP00000316328:P452S	ENSP00000316328:P452S	P	+	1	0	CIITA	10908204	0.983000	0.35010	0.614000	0.29051	0.166000	0.22503	3.224000	0.51238	2.325000	0.78763	0.561000	0.74099	CCC		0.632	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		44	77	0	0	0	1	0	44	77				
PRR5	55615	broad.mit.edu	37	22	45132948	45132948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:45132948G>A	ENST00000336985.6	+	8	1265	c.988G>A	c.(988-990)Gag>Aag	p.E330K	ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000403581.1_Missense_Mutation_p.E353K|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.E321K	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	330					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCAGCCCCCTGAGCAGGGCTT	0.711																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(1057-1059)Gag>Aag		proline rich 5 (renal)							16.0	19.0	18.0					22																	45132948		2197	4289	6486	SO:0001583	missense	55615							g.chr22:45132948G>A	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.988G>A	22.37:g.45132948G>A	ENSP00000337464:p.Glu330Lys					ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.E330K|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR	p.E353K	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1666	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.1057G>A	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	G	9.962	1.223012	0.22457	.	.	ENSG00000186654	ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	T;T;T	0.30182	1.55;1.54;1.55	5.22	0.495	0.16890	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001	B;B;B;B;B	0.09377	0.001;0.001;0.004;0.001;0.002	T	0.33059	-0.9883	8	.	.	.	.	7.7977	0.29156	0.1406:0.2478:0.6116:0.0	.	294;353;229;330;330	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	K	321;294;353;330	ENSP00000006251:E321K;ENSP00000384848:E353K;ENSP00000337464:E330K	.	E	+	1	0	PRR5	43511612	0.011000	0.17503	0.001000	0.08648	0.483000	0.33249	1.114000	0.31196	0.216000	0.20781	0.491000	0.48974	GAG		0.711	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		16	28	0	0	0	1	0	16	28				
MATN1	4146	broad.mit.edu	37	1	31194585	31194585	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:31194585C>T	ENST00000373765.4	-	2	143	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	36	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCGCGTCCGGCAGAGAT	0.577																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(106-108)cgG>cgA		matrilin 1, cartilage matrix protein							34.0	36.0	36.0					1																	31194585		2203	4299	6502	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31194585C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.108G>A	1.37:g.31194585C>T						MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	p.R36R	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	2	143	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	36			VWFA 1.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.108G>A	CCDS336.1																																																																																				0.577	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		12	35	0	0	0	1	0	12	35				
PKHD1	5314	broad.mit.edu	37	6	51720722	51720722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51720722G>A	ENST00000371117.3	-	49	8155	c.7880C>T	c.(7879-7881)tCt>tTt	p.S2627F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2627F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2627					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGGTTCTCAGATTGCAATGA	0.408																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7879-7881)tCt>tTt		polycystic kidney and hepatic disease 1 (autosomal recessive)							171.0	175.0	174.0					6																	51720722		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51720722G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7880C>T	6.37:g.51720722G>A	ENSP00000360158:p.Ser2627Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2627F	p.S2627F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			49	8155	-	Lung NSC(77;0.0605)		2627					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7880C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.411961	0.00191	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;D	0.82081	-1.33;-1.57	6.17	3.67	0.42095	.	0.198323	0.45606	N	0.000350	T	0.19685	0.0473	N	0.00182	-1.905	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46624	-0.9178	10	0.02654	T	1	.	8.6742	0.34170	0.8508:0.0:0.1492:0.0	.	2627;2627;2627	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2627	ENSP00000360158:S2627F;ENSP00000341097:S2627F	ENSP00000341097:S2627F	S	-	2	0	PKHD1	51828681	0.926000	0.31397	0.002000	0.10522	0.008000	0.06430	3.230000	0.51286	0.557000	0.29117	-0.290000	0.09829	TCT		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	80	0	0	0	1	0	17	80				
ARHGEF17	9828	broad.mit.edu	37	11	73073652	73073652	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73073652C>T	ENST00000263674.3	+	14	5219	c.4869C>T	c.(4867-4869)ctC>ctT	p.L1623L		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1623					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CGCCGGGCCTCGGCGAGGGTG	0.701																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(4867-4869)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 17							16.0	21.0	19.0					11																	73073652		2188	4266	6454	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73073652C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.4869C>T	11.37:g.73073652C>T							p.L1623L	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			14	5219	+			1623					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.4869C>T	CCDS8221.1																																																																																				0.701	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		16	15	0	0	0	1	0	16	15				
FAT2	2196	broad.mit.edu	37	5	150946583	150946583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150946583G>A	ENST00000261800.5	-	1	1922	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	637	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTTCAGGGAATAACTGGT	0.413																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1909-1911)tCc>tTc		FAT atypical cadherin 2							96.0	98.0	97.0					5																	150946583		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946583G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1910C>T	5.37:g.150946583G>A	ENSP00000261800:p.Ser637Phe						p.S637F	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1922	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	637			Cadherin 5.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1910C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.514	0.095337	0.08681	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.78	2.96	0.34315	Cadherin (5);Cadherin-like (1);	0.185433	0.38663	N	0.001605	T	0.40473	0.1118	L	0.48260	1.515	0.28113	N	0.930917	B	0.10296	0.003	B	0.12156	0.007	T	0.33954	-0.9848	10	0.49607	T	0.09	.	4.8025	0.13303	0.1342:0.1211:0.6197:0.125	.	637	Q9NYQ8	FAT2_HUMAN	F	637	ENSP00000261800:S637F	ENSP00000261800:S637F	S	-	2	0	FAT2	150926776	0.991000	0.36638	0.230000	0.23976	0.613000	0.37349	0.983000	0.29552	0.882000	0.36016	0.655000	0.94253	TCC		0.413	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		38	59	0	0	0	1	0	38	59				
DHCR24	1718	broad.mit.edu	37	1	55317918	55317918	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55317918G>A	ENST00000371269.3	-	9	1637	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	DHCR24_ENST00000535035.1_Silent_p.A472A|DHCR24_ENST00000537443.1_Silent_p.A297A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	513					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						AGTGCCTGGCGGCCTTGCAGA	0.572																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(1537-1539)gcC>gcT		24-dehydrocholesterol reductase							85.0	77.0	80.0					1																	55317918		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55317918G>A	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1539C>T	1.37:g.55317918G>A						DHCR24_ENST00000535035.1_Silent_p.A472A|DHCR24_ENST00000537443.1_Silent_p.A297A	p.A513A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			9	1637	-			513					B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.1539C>T	CCDS600.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311287	0.23821	.	.	ENSG00000116133	ENST00000436604	.	.	.	5.58	-8.31	0.01001	.	.	.	.	.	T	0.44705	0.1306	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51012	-0.8759	4	.	.	.	-13.9098	6.6718	0.23072	0.6275:0.1655:0.1236:0.0834	.	.	.	.	C	151	.	.	R	-	1	0	DHCR24	55090506	0.000000	0.05858	0.608000	0.28969	0.974000	0.67602	-2.149000	0.01291	-1.301000	0.02338	0.561000	0.74099	CGC		0.572	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		28	23	0	0	0	1	0	28	23				
TRAV12-2	28673	broad.mit.edu	37	14	22356114	22356114	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22356114C>T	ENST00000390437.2	+	0	78									T cell receptor alpha variable 12-2																		AAATTTGAATCCTCAGTGAAC	0.348																																						ENST00000390437.2																			0																				83.0	79.0	80.0					14																	22356114		1822	4079	5901			28673							g.chr14:22356114C>T	AE000659		14q11.2	2012-02-07			ENSG00000211789	ENSG00000211789		"""T cell receptors / TRA locus"""	12106	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168994		14.37:g.22356114C>T														0	78	+									RNA	SNP	ENST00000390437.2	37																																																																																						0.348	TRAV12-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401892.1	NG_001332		7	12	0	0	0	1	0	7	12				
PEG3	5178	broad.mit.edu	37	19	57333096	57333096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57333096G>A	ENST00000326441.9	-	7	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	198					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCACCACAGGAAGGGAAAGA	0.537																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(592-594)Cct>Tct		paternally expressed 3							163.0	147.0	152.0					19																	57333096		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333096G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.592C>T	19.37:g.57333096G>A	ENSP00000326581:p.Pro198Ser					PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S	p.P198S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	955	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	198					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.592C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664980	0.67700	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.07216	3.21;3.21;3.94;3.94	3.57	3.57	0.40892	.	0.000000	0.40469	N	0.001087	T	0.15565	0.0375	L	0.27053	0.805	.	.	.	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.994;0.994;0.998	T	0.09037	-1.0693	9	0.72032	D	0.01	-13.3581	10.9666	0.47416	0.0:0.0:1.0:0.0	.	73;198;132;73	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	S	73;73;198;198;198	ENSP00000375589:P73S;ENSP00000221722:P73S;ENSP00000326581:P198S;ENSP00000403051:P198S	ENSP00000221722:P73S	P	-	1	0	ZIM2	62024908	0.990000	0.36364	0.801000	0.32222	0.959000	0.62525	4.196000	0.58407	2.322000	0.78497	0.563000	0.77884	CCT		0.537	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			54	92	0	0	0	1	0	54	92				
TNXB	7148	broad.mit.edu	37	6	32036477	32036477	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036477C>T	ENST00000375244.3	-	17	6111	c.5910G>A	c.(5908-5910)gaG>gaA	p.E1970E	TNXB_ENST00000375247.2_Silent_p.E1970E			P22105	TENX_HUMAN	tenascin XB	2052	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTTCTCCTCCTCCGGGACTG	0.632																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5908-5910)gaG>gaA		tenascin XB							38.0	43.0	42.0					6																	32036477		1984	4141	6125	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036477C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5910G>A	6.37:g.32036477C>T						TNXB_ENST00000375247.2_Silent_p.E1970E	p.E1970E			P22105	TENX_HUMAN			17	6111	-			2052			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.5910G>A																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		27	19	0	0	0	1	0	27	19				
RTKN2	219790	broad.mit.edu	37	10	63959550	63959550	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:63959550G>A	ENST00000373789.3	-	11	1353	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	RTKN2_ENST00000315289.2_Silent_p.F221F|RTKN2_ENST00000395265.1_Silent_p.F440F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	419					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTTTGTCAAGAACAAAGGTG	0.398																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1255-1257)ttC>ttT		rhotekin 2							146.0	127.0	133.0					10																	63959550		2203	4300	6503	SO:0001819	synonymous_variant	219790				signal transduction	intracellular		g.chr10:63959550G>A	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1257C>T	10.37:g.63959550G>A						RTKN2_ENST00000315289.2_Silent_p.F221F|RTKN2_ENST00000395265.1_Silent_p.F440F	p.F419F	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			11	1353	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		419					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	c.1257C>T	CCDS7263.1																																																																																				0.398	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		23	41	0	0	0	1	0	23	41				
LRIG2	9860	broad.mit.edu	37	1	113666513	113666513	+	Silent	SNP	C	C	T	rs570546974		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:113666513C>T	ENST00000361127.5	+	18	3186	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	996					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCAGCGGCCCGTGTGGAACA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17022	0.0		0.0	False		,,,				2504	0.0					ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(2986-2988)ccC>ccT		leucine-rich repeats and immunoglobulin-like domains 2							61.0	52.0	55.0					1																	113666513		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113666513C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2988C>T	1.37:g.113666513C>T						LRIG2_ENST00000492207.1_3'UTR	p.P996P	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	18	3186	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	996					Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.2988C>T	CCDS30808.1																																																																																				0.433	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		11	13	0	0	0	1	0	11	13				
GRIPAP1	56850	broad.mit.edu	37	X	48841725	48841725	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48841725C>T	ENST00000376441.1	-	14	1166	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E325K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E347K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E333K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	378						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATAAGGTCCTCGTACTCAGCC	0.532																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(973-975)Gag>Aag		GRIP1 associated protein 1							156.0	102.0	120.0					X																	48841725		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48841725C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1132G>A	X.37:g.48841725C>T	ENSP00000365624:p.Glu378Lys					GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E347K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E378K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E333K	p.E325K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			13	1005	-			378					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.973G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	c	13.94	2.386180	0.42308	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.31	3.41	0.39046	.	0.000000	0.64402	D	0.000004	T	0.21761	0.0524	L	0.55481	1.735	0.40001	D	0.975168	B;B;B	0.22211	0.038;0.066;0.014	B;B;B	0.19391	0.025;0.019;0.003	T	0.05699	-1.0869	10	0.15499	T	0.54	-9.0059	9.9048	0.41370	0.0:0.8883:0.0:0.1117	.	325;268;378	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	347;333;378;347;325	ENSP00000365608:E347K;ENSP00000365627:E333K;ENSP00000365624:E378K;ENSP00000365606:E325K	ENSP00000365606:E325K	E	-	1	0	GRIPAP1	48726669	0.999000	0.42202	0.815000	0.32552	0.768000	0.43524	3.958000	0.56737	0.599000	0.29845	0.458000	0.33432	GAG		0.532	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		22	28	0	0	0	1	0	22	28				
ZNF253	56242	broad.mit.edu	37	19	20002804	20002804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:20002804C>T	ENST00000589717.1	+	4	840	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.H174Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	250				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAAGAAAATTCATACTGGAGA	0.403																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(748-750)Cat>Tat		zinc finger protein 253							46.0	51.0	49.0					19																	20002804		2166	4281	6447	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002804C>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.748C>T	19.37:g.20002804C>T	ENSP00000468720:p.His250Tyr					ZNF253_ENST00000355650.4_Missense_Mutation_p.H174Y	p.H250Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	840	+			250	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.748C>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	13.89	2.373406	0.42105	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.80613	0.4656	M	0.93898	3.47	0.35026	D	0.758358	D	0.89917	1.0	D	0.97110	1.0	T	0.82246	-0.0552	7	.	.	.	.	7.1488	0.25597	0.0:1.0:0.0:0.0	.	250	O75346	ZN253_HUMAN	Y	250	.	.	H	+	1	0	ZNF253	19863804	0.998000	0.40836	0.015000	0.15790	0.015000	0.08874	5.226000	0.65299	0.293000	0.22520	0.298000	0.19748	CAT		0.403	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		23	32	0	0	0	1	0	23	32				
PCDH1	5097	broad.mit.edu	37	5	141236840	141236840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141236840C>T	ENST00000287008.3	-	4	3443	c.3296G>A	c.(3295-3297)gGa>gAa	p.G1099E	PCDH1_ENST00000503492.1_Missense_Mutation_p.G367E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCATCTCTCCTATGCTGCC	0.597																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(3295-3297)gGa>gAa		protocadherin 1							62.0	58.0	59.0					5																	141236840		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141236840C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3296G>A	5.37:g.141236840C>T	ENSP00000287008:p.Gly1099Glu					PCDH1_ENST00000503492.1_Missense_Mutation_p.G367E	p.G1099E	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	4	3443	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	0					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3296G>A	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934761	0.73442	.	.	ENSG00000156453	ENST00000503492;ENST00000287008	T;T	0.64085	0.12;-0.08	5.23	5.23	0.72850	.	0.000000	0.43579	U	0.000543	T	0.69251	0.3090	N	0.25789	0.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72097	-0.4393	10	0.56958	D	0.05	.	16.2921	0.82757	0.0:1.0:0.0:0.0	.	1099	Q08174-2	.	E	367;1099	ENSP00000424667:G367E;ENSP00000287008:G1099E	ENSP00000287008:G1099E	G	-	2	0	PCDH1	141217024	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.433000	0.82419	0.455000	0.32223	GGA		0.597	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2	NM_032420		22	25	0	0	0	1	0	22	25				
CLCNKB	1188	broad.mit.edu	37	1	16383004	16383004	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16383004G>A	ENST00000375679.4	+	19	2127		c.e19+1		CLCNKB_ENST00000375667.3_Splice_Site|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGTGGAGGTACCAGGGTC	0.627											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.e19+1		chloride channel, voltage-sensitive Kb							143.0	135.0	138.0					1																	16383004		2203	4300	6503	SO:0001630	splice_region_variant	1188							g.chr1:16383004G>A	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.2016+1G>A	1.37:g.16383004G>A			OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKB_ENST00000375667.3_Splice_Site		NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	19	2127	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Splice_Site	SNP	ENST00000375679.4	37		CCDS168.1	.	.	.	.	.	.	.	.	.	.	.	11.84	1.758579	0.31137	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6631	0.68888	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCNKB	16255591	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	3.866000	0.56040	2.260000	0.74910	0.555000	0.69702	.		0.627	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	Intron	56	64	0	0	0	1	0	56	64				
KIF6	221458	broad.mit.edu	37	6	39507891	39507891	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:39507891G>A	ENST00000287152.7	-	13	1627	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	KIF6_ENST00000373215.3_Silent_p.F511F|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Silent_p.F511F|KIF6_ENST00000373213.4_Silent_p.F350F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	511					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCCTAGGCGGAAGGGTGGGC	0.498																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1531-1533)ttC>ttT		kinesin family member 6							192.0	194.0	193.0					6																	39507891		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507891G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1533C>T	6.37:g.39507891G>A						KIF6_ENST00000373213.4_Silent_p.F350F|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.F511F|KIF6_ENST00000373216.3_Silent_p.F511F	p.F511F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1627	-			511					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1533C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	5.186	0.219821	0.09863	.	.	ENSG00000164627	ENST00000458470	.	.	.	6.04	1.03	0.20045	.	.	.	.	.	T	0.10465	0.0256	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	.	5.1235	0.14873	0.3112:0.0:0.5514:0.1374	.	.	.	.	F	403	.	.	S	-	2	0	KIF6	39615869	0.035000	0.19736	0.015000	0.15790	0.060000	0.15804	-0.070000	0.11523	0.448000	0.26722	0.563000	0.77884	TCC		0.498	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		9	124	0	0	0	1	0	9	124				
FAM174B	400451	broad.mit.edu	37	15	93162622	93162622	+	3'UTR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93162622C>T	ENST00000327355.5	-	0	842				FAM174B_ENST00000555748.1_Silent_p.K40K|FAM174B_ENST00000555696.1_Silent_p.K40K|FAM174B_ENST00000553393.1_Intron|FAM174B_ENST00000555064.1_Silent_p.K40K|RP11-386M24.9_ENST00000607766.1_RNA	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B							integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						AGGTCCAGTCCTTCACACCCC	0.522																																						ENST00000555748.1																			0				endometrium(2)|lung(1)	3						c.(118-120)aaG>aaA		family with sequence similarity 174, member B							63.0	65.0	64.0					15																	93162622		687	1589	2276	SO:0001624	3_prime_UTR_variant	400451					integral to membrane		g.chr15:93162622C>T		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.*64G>A	15.37:g.93162622C>T						FAM174B_ENST00000555696.1_Silent_p.K40K|FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000555064.1_Silent_p.K40K|FAM174B_ENST00000327355.5_3'UTR	p.K40K			Q3ZCQ3	F174B_HUMAN			3	473	-			0					Q3ZCR9|Q8NBH7	Silent	SNP	ENST00000327355.5	37	c.120G>A	CCDS45355.1																																																																																				0.522	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		12	16	0	0	0	1	0	12	16				
TARBP1	6894	broad.mit.edu	37	1	234529521	234529521	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234529521G>A	ENST00000040877.1	-	27	4305	c.4306C>T	c.(4306-4308)Ccg>Tcg	p.P1436S	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1436					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTGTTCCACGGGATAATCTTC	0.458																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(4306-4308)Ccg>Tcg		TAR (HIV-1) RNA binding protein 1							96.0	100.0	99.0					1																	234529521		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529521G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4306C>T	1.37:g.234529521G>A	ENSP00000040877:p.Pro1436Ser					TARBP1_ENST00000483404.1_5'UTR	p.P1436S	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		27	4305	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1436					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4306C>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196700	0.58126	.	.	ENSG00000059588	ENST00000040877	T	0.14022	2.54	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29971	-0.9994	10	0.46703	T	0.11	-20.3495	17.0766	0.86588	0.0:0.0:1.0:0.0	.	1436	Q13395	TARB1_HUMAN	S	1436	ENSP00000040877:P1436S	ENSP00000040877:P1436S	P	-	1	0	TARBP1	232596144	1.000000	0.71417	0.993000	0.49108	0.021000	0.10359	9.016000	0.93645	2.257000	0.74773	0.555000	0.69702	CCG		0.458	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		29	39	0	0	0	1	0	29	39				
STK17B	9262	broad.mit.edu	37	2	197021263	197021263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:197021263G>A	ENST00000263955.4	-	3	521	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	RP11-347P5.1_ENST00000606818.1_RNA|STK17B_ENST00000409228.1_Missense_Mutation_p.H79Y	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GCAATCTCGTGTAAAATTTCT	0.348																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(235-237)Cac>Tac		serine/threonine kinase 17b							96.0	89.0	92.0					2																	197021263		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197021263G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.235C>T	2.37:g.197021263G>A	ENSP00000263955:p.His79Tyr					STK17B_ENST00000409228.1_Missense_Mutation_p.H79Y	p.H79Y	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		3	521	-			79			Protein kinase.			Missense_Mutation	SNP	ENST00000263955.4	37	c.235C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500471	0.64298	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.49139	0.79;0.79	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000085	T	0.66723	0.2818	L	0.58101	1.795	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	T	0.68697	-0.5340	10	0.72032	D	0.01	.	18.7644	0.91866	0.0:0.0:1.0:0.0	.	79	O94768	ST17B_HUMAN	Y	79	ENSP00000263955:H79Y;ENSP00000386853:H79Y	ENSP00000263955:H79Y	H	-	1	0	STK17B	196729508	1.000000	0.71417	0.913000	0.36048	0.552000	0.35366	5.979000	0.70508	2.658000	0.90341	0.650000	0.86243	CAC		0.348	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			33	47	0	0	0	1	0	33	47				
DCAF8L2	347442	broad.mit.edu	37	X	27766219	27766219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:27766219G>A	ENST00000451261.2	+	5	1606	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	403										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGATAAGAAAGAAAACAATGG	0.413																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(1207-1209)Gaa>Aaa		DDB1 and CUL4 associated factor 8-like 2							180.0	127.0	143.0					X																	27766219		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766219G>A		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1207G>A	X.37:g.27766219G>A	ENSP00000462745:p.Glu403Lys						p.E403K	NM_001136533.1	NP_001130005.1					5	1606	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1207G>A	CCDS59162.1																																																																																				0.413	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		26	26	0	0	0	1	0	26	26				
GRIA4	2893	broad.mit.edu	37	11	105775945	105775945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105775945G>A	ENST00000530497.1	+	8	1076	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	GRIA4_ENST00000393127.2_Missense_Mutation_p.G359E|GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E|GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	359					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGGCTGACAGGGAATGTTCAG	0.408																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1075-1077)gGg>gAg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						145.0	135.0	138.0					11																	105775945		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105775945G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1076G>A	11.37:g.105775945G>A	ENSP00000435775:p.Gly359Glu					GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G359E|GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E|GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E	p.G359E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	9	1522	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	359					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1076G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	g	33	5.274355	0.95459	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86;-2.86	5.75	5.75	0.90469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.95623	0.8577	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95358	0.8453	10	0.87932	D	0	.	20.3281	0.98708	0.0:0.0:1.0:0.0	.	359;359;359	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	E	359	ENSP00000376833:G359E;ENSP00000282499:G359E;ENSP00000376835:G359E;ENSP00000415551:G359E;ENSP00000435775:G359E;ENSP00000432180:G359E	ENSP00000282499:G359E	G	+	2	0	GRIA4	105281155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.877000	0.98614	0.645000	0.84053	GGG		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			18	37	0	0	0	1	0	18	37				
SLC35B1	10237	broad.mit.edu	37	17	47780630	47780630	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:47780630C>T	ENST00000240333.6	-	7	803	c.682G>A	c.(682-684)Gag>Aag	p.E228K	SLC35B1_ENST00000415270.2_Missense_Mutation_p.E265K			P78383	S35B1_HUMAN	solute carrier family 35, member B1	228					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CTCAAGAACTCCCAGAGCTCC	0.502																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(682-684)Gag>Aag		solute carrier family 35, member B1							93.0	85.0	87.0					17																	47780630		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780630C>T	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.682G>A	17.37:g.47780630C>T	ENSP00000240333:p.Glu228Lys					SLC35B1_ENST00000415270.2_Missense_Mutation_p.E265K	p.E228K			P78383	S35B1_HUMAN			7	803	-			228					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.682G>A	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904945	0.72868	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334;ENST00000508520;ENST00000502268	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.03	5.03	0.67393	.	0.259000	0.44483	D	0.000459	T	0.30792	0.0776	L	0.42632	1.34	0.80722	D	1	B;B	0.13594	0.008;0.002	B;B	0.16722	0.016;0.01	T	0.05022	-1.0911	10	0.44086	T	0.13	1.1263	18.1392	0.89633	0.0:1.0:0.0:0.0	.	161;228	D3DTX1;P78383	.;S35B1_HUMAN	K	228;265;104;104;161;231;104	ENSP00000240333:E228K;ENSP00000409548:E265K;ENSP00000423323:E161K;ENSP00000424367:E231K	ENSP00000240333:E228K	E	-	1	0	SLC35B1	45135629	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.577000	0.60922	2.595000	0.87683	0.561000	0.74099	GAG		0.502	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		26	40	0	0	0	1	0	26	40				
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:206531C>T	ENST00000356347.3	+	0	133					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTGGATGATTCGTAGCTAAGA	0.632																																						ENST00000356347.3																			0																																																			642280							g.chr4:206531C>T	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206531C>T								NR_027481.1						0	133	+									RNA	SNP	ENST00000356347.3	37																																																																																						0.632	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		9	19	0	0	0	1	0	9	19				
ACSM2A	123876	broad.mit.edu	37	16	20497933	20497933	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:20497933G>A	ENST00000573854.1	+	14	1781	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E	ACSM2A_ENST00000536134.1_Missense_Mutation_p.G328E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G556E|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G477E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G556E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G556E	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	556					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACTGTCACAGGGAAAATTCAA	0.478																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1666-1668)gGg>gAg		acyl-CoA synthetase medium-chain family member 2A							179.0	174.0	176.0					16																	20497933		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20497933G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1667G>A	16.37:g.20497933G>A	ENSP00000459451:p.Gly556Glu					ACSM2A_ENST00000417235.2_Missense_Mutation_p.G477E|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G328E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G556E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G556E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G556E	p.G556E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			14	1781	+			556					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1667G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912974	0.52439	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	3.74	3.74	0.42951	.	0.000000	0.44285	D	0.000480	D	0.84897	0.5574	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87928	0.2708	10	0.87932	D	0	-18.9045	13.5383	0.61659	0.0:0.0:1.0:0.0	.	556	Q08AH3	ACS2A_HUMAN	E	477;556;328;556	ENSP00000392169:G477E;ENSP00000219054:G556E;ENSP00000445082:G328E;ENSP00000379411:G556E	ENSP00000219054:G556E	G	+	2	0	ACSM2A	20405434	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	6.933000	0.75874	1.923000	0.55706	0.306000	0.20318	GGG		0.478	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		56	94	0	0	0	1	0	56	94				
TYRO3	7301	broad.mit.edu	37	15	41865994	41865994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865994C>T	ENST00000263798.3	+	18	2487	c.2263C>T	c.(2263-2265)Ccg>Tcg	p.P755S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAAACAGCCTCCGGAGTGTAT	0.547																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(2263-2265)Ccg>Tcg		TYRO3 protein tyrosine kinase																																				SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865994C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2263C>T	15.37:g.41865994C>T	ENSP00000263798:p.Pro755Ser					TYRO3_ENST00000559066.1_Missense_Mutation_p.P710S	p.P755S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2487	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	755			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2263C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068606	0.36470	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.81996	-1.56	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000763	T	0.80396	0.4615	L	0.27053	0.805	0.58432	D	0.999999	P	0.49635	0.926	P	0.49561	0.615	T	0.76479	-0.2944	10	0.18710	T	0.47	-14.6134	19.5084	0.95130	0.0:1.0:0.0:0.0	.	755	Q06418	TYRO3_HUMAN	S	687;755	ENSP00000263798:P755S	ENSP00000263798:P755S	P	+	1	0	TYRO3	39653286	0.884000	0.30299	0.997000	0.53966	0.957000	0.61999	1.552000	0.36244	2.612000	0.88384	0.655000	0.94253	CCG		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			40	75	0	0	0	1	0	40	75				
BRD4	23476	broad.mit.edu	37	19	15374332	15374332	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15374332C>T	ENST00000263377.2	-	7	1461	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	BRD4_ENST00000371835.4_Missense_Mutation_p.D414N|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000360016.5_Missense_Mutation_p.D414N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	414	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TCCTGAGCATCACGGTACTCA	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1240-1242)Gat>Aat		bromodomain containing 4							141.0	106.0	118.0					19																	15374332		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15374332C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1240G>A	19.37:g.15374332C>T	ENSP00000263377:p.Asp414Asn					BRD4_ENST00000371835.4_Missense_Mutation_p.D414N|BRD4_ENST00000360016.5_Missense_Mutation_p.D414N|BRD4_ENST00000602230.1_5'UTR	p.D414N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1461	-			414			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1240G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550696	0.65311	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.17854	2.25;2.25;2.25	4.58	4.58	0.56647	Bromodomain (5);	0.000000	0.64402	D	0.000004	T	0.26340	0.0643	L	0.33339	1.005	0.49389	D	0.999783	P;B;D	0.56287	0.943;0.017;0.975	P;B;P	0.57371	0.553;0.031;0.819	T	0.01290	-1.1394	10	0.37606	T	0.19	-16.6166	16.5278	0.84336	0.0:1.0:0.0:0.0	.	414;414;414	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	414	ENSP00000263377:D414N;ENSP00000360901:D414N;ENSP00000353112:D414N	ENSP00000263377:D414N	D	-	1	0	BRD4	15235332	1.000000	0.71417	0.925000	0.36789	0.967000	0.64934	6.037000	0.70956	2.271000	0.75665	0.407000	0.27541	GAT		0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		22	34	0	0	0	1	0	22	34				
WAC	51322	broad.mit.edu	37	10	28900804	28900804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28900804C>T	ENST00000354911.4	+	10	1551	c.1390C>T	c.(1390-1392)Cct>Tct	p.P464S	WAC_ENST00000375664.4_Missense_Mutation_p.P419S|WAC_ENST00000375646.1_Missense_Mutation_p.P312S|WAC_ENST00000347934.4_Missense_Mutation_p.P361S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	464					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAACACAGTCCCTATCAAACC	0.418																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1255-1257)Cct>Tct		WW domain containing adaptor with coiled-coil							162.0	134.0	144.0					10																	28900804		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28900804C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1390C>T	10.37:g.28900804C>T	ENSP00000346986:p.Pro464Ser					WAC_ENST00000347934.4_Missense_Mutation_p.P361S|WAC_ENST00000375646.1_Missense_Mutation_p.P312S|WAC_ENST00000354911.4_Missense_Mutation_p.P464S	p.P419S			Q9BTA9	WAC_HUMAN			10	1864	+			464					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1255C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800761	0.50315	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000338396	T;T;T;T	0.26810	1.94;1.71;1.81;1.94	5.64	5.64	0.86602	.	0.046428	0.85682	D	0.000000	T	0.21881	0.0527	N	0.11560	0.145	0.80722	D	1	B;P;B	0.40970	0.23;0.734;0.147	B;B;B	0.43478	0.047;0.421;0.021	T	0.05241	-1.0897	10	0.49607	T	0.09	-17.6534	20.0769	0.97748	0.0:1.0:0.0:0.0	.	419;361;464	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	S	419;312;361;464;27	ENSP00000364816:P419S;ENSP00000364797:P312S;ENSP00000311106:P361S;ENSP00000346986:P464S	ENSP00000341462:P27S	P	+	1	0	WAC	28940810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.842000	0.62831	2.820000	0.97059	0.650000	0.86243	CCT		0.418	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		45	65	0	0	0	1	0	45	65				
LARS2	23395	broad.mit.edu	37	3	45530194	45530194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45530194C>T	ENST00000415258.1	+	11	1270	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	LARS2_ENST00000265537.3_Missense_Mutation_p.P377S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.P334S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	377					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AATAGGAATTCCCAGTACTAG	0.458																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1129-1131)Ccc>Tcc		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						76.0	73.0	74.0					3																	45530194		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45530194C>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1129C>T	3.37:g.45530194C>T	ENSP00000408576:p.Pro377Ser					LARS2_ENST00000414984.1_Missense_Mutation_p.P334S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P377S	p.P377S			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	11	1270	+			377						Missense_Mutation	SNP	ENST00000415258.1	37	c.1129C>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926734	0.92319	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.36699	1.36;1.36;1.24	5.82	5.82	0.92795	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);	0.000000	0.85682	D	0.000000	T	0.76688	0.4022	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85161	0.0992	10	0.87932	D	0	-29.0795	20.0991	0.97865	0.0:1.0:0.0:0.0	.	334;377	E9PHM2;Q15031	.;SYLM_HUMAN	S	377;377;334	ENSP00000265537:P377S;ENSP00000408576:P377S;ENSP00000412893:P334S	ENSP00000265537:P377S	P	+	1	0	LARS2	45505198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.226000	0.72277	2.752000	0.94435	0.655000	0.94253	CCC		0.458	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		21	45	0	0	0	1	0	21	45				
C2orf16	84226	broad.mit.edu	37	2	27802341	27802341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802341G>A	ENST00000408964.2	+	1	2953	c.2902G>A	c.(2902-2904)Ggt>Agt	p.G968S	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTTATCATGGTCATAAGAA	0.413																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2902-2904)Ggt>Agt		chromosome 2 open reading frame 16							88.0	84.0	85.0					2																	27802341		1880	4100	5980	SO:0001583	missense	84226							g.chr2:27802341G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2902G>A	2.37:g.27802341G>A	ENSP00000386190:p.Gly968Ser						p.G968S	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2953	+	Acute lymphoblastic leukemia(172;0.155)		968					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2902G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	8.872	0.949505	0.18356	.	.	ENSG00000221843	ENST00000408964	T	0.05649	3.41	5.65	0.188	0.15114	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.38327	0.271	T	0.42699	-0.9436	9	0.13470	T	0.59	.	5.7757	0.18277	0.3613:0.1479:0.4908:0.0	.	968	Q68DN1	CB016_HUMAN	S	968	ENSP00000386190:G968S	ENSP00000386190:G968S	G	+	1	0	C2orf16	27655845	0.004000	0.15560	0.001000	0.08648	0.142000	0.21351	0.400000	0.20932	0.056000	0.16144	-0.218000	0.12543	GGT		0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	49	0	0	0	1	0	18	49				
GMEB2	26205	broad.mit.edu	37	20	62221768	62221768	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62221768G>A	ENST00000266068.1	-	9	1745	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	GMEB2_ENST00000370077.1_Missense_Mutation_p.P423S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	423					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGGGAGGCCGGGGAGCTGGCG	0.692																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(1267-1269)Ccg>Tcg		glucocorticoid modulatory element binding protein 2							11.0	12.0	12.0					20																	62221768		2177	4281	6458	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221768G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1267C>T	20.37:g.62221768G>A	ENSP00000266068:p.Pro423Ser					GMEB2_ENST00000370077.1_Missense_Mutation_p.P423S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372S	p.P423S			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		9	1745	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		423					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.1267C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979731	0.34942	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.68624	-0.34;0.24;0.24	4.67	4.67	0.58626	.	0.205916	0.40640	N	0.001057	T	0.68449	0.3002	M	0.63843	1.955	0.39653	D	0.970496	P	0.41710	0.76	B	0.42112	0.376	T	0.75769	-0.3201	10	0.66056	D	0.02	-23.0293	17.56	0.87903	0.0:0.0:1.0:0.0	.	423	Q9UKD1	GMEB2_HUMAN	S	372;423;423	ENSP00000359086:P372S;ENSP00000359094:P423S;ENSP00000266068:P423S	ENSP00000266068:P423S	P	-	1	0	GMEB2	61692212	1.000000	0.71417	0.278000	0.24718	0.027000	0.11550	4.312000	0.59154	2.311000	0.77944	0.561000	0.74099	CCG		0.692	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		5	11	0	0	0	1	0	5	11				
ATP6V0A4	50617	broad.mit.edu	37	7	138417793	138417793	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138417793C>T	ENST00000310018.2	-	17	2019	c.1737G>A	c.(1735-1737)gaG>gaA	p.E579E	ATP6V0A4_ENST00000393054.1_Silent_p.E579E|ATP6V0A4_ENST00000353492.4_Silent_p.E579E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	579					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TAAAAATCATCTCAGGGATAA	0.433																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1735-1737)gaG>gaA		ATPase, H+ transporting, lysosomal V0 subunit a4							134.0	125.0	128.0					7																	138417793		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138417793C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1737G>A	7.37:g.138417793C>T						ATP6V0A4_ENST00000393054.1_Silent_p.E579E|ATP6V0A4_ENST00000353492.4_Silent_p.E579E	p.E579E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			17	2019	-			579					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.1737G>A	CCDS5849.1																																																																																				0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		25	60	0	0	0	1	0	25	60				
MSR1	4481	broad.mit.edu	37	8	16012590	16012590	+	Missense_Mutation	SNP	C	C	T	rs41440349	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:16012590C>T	ENST00000262101.5	-	6	1002	c.881G>A	c.(880-882)gGa>gAa	p.G294E	MSR1_ENST00000381998.4_Missense_Mutation_p.G294E|MSR1_ENST00000350896.3_Missense_Mutation_p.G294E|MSR1_ENST00000355282.2_Missense_Mutation_p.G294E|MSR1_ENST00000536385.1_Missense_Mutation_p.G68E|MSR1_ENST00000445506.2_Missense_Mutation_p.G312E			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	294	Collagen-like.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ACCTGGAAATCCTCGTGGACC	0.408													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19061	0.0		0.0	False		,,,				2504	0.0					ENST00000350896.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(880-882)gGa>gAa		macrophage scavenger receptor 1		C	GLU/GLY,GLU/GLY,GLU/GLY	2,4404	4.2+/-10.8	0,2,2201	93.0	91.0	92.0		881,881,881	4.9	0.2	8	dbSNP_127	92	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	MSR1	NM_002445.3,NM_138715.2,NM_138716.2	98,98,98	0,9,6494	TT,TC,CC		0.0814,0.0454,0.0692	probably-damaging,probably-damaging,probably-damaging	294/359,294/452,294/389	16012590	9,12997	2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16012590C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.881G>A	8.37:g.16012590C>T	ENSP00000262101:p.Gly294Glu					MSR1_ENST00000445506.2_Missense_Mutation_p.G312E|MSR1_ENST00000262101.5_Missense_Mutation_p.G294E|MSR1_ENST00000536385.1_Missense_Mutation_p.G68E|MSR1_ENST00000355282.2_Missense_Mutation_p.G294E|MSR1_ENST00000381998.4_Missense_Mutation_p.G294E	p.G294E	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	6	1078	-			294			Collagen-like.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.881G>A	CCDS5995.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	24.1	4.489374	0.84962	4.54E-4	8.14E-4	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-4.45;-5.77;-4.45	4.87	4.87	0.63330	.	0.000000	0.56097	D	0.000034	D	0.99414	0.9793	H	0.95504	3.68	0.40594	D	0.981517	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95400	0.8489	10	0.87932	D	0	.	16.3305	0.83010	0.0:1.0:0.0:0.0	rs41440349;rs62622414	68;312;294;294;294	F5GZJ2;B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;.;MSRE_HUMAN	E	294;294;312;294;84;294;68	ENSP00000262100:G294E;ENSP00000262101:G294E;ENSP00000405453:G312E;ENSP00000347430:G294E;ENSP00000430536:G84E;ENSP00000371428:G294E;ENSP00000444414:G68E	ENSP00000262101:G294E	G	-	2	0	MSR1	16056961	0.658000	0.27402	0.163000	0.22734	0.634000	0.38068	3.776000	0.55356	2.627000	0.88993	0.650000	0.86243	GGA		0.408	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			16	31	0	0	0	1	0	16	31				
TPTE	7179	broad.mit.edu	37	21	10934997	10934997	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:10934997C>T	ENST00000361285.4	-	15	1125	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	TPTE_ENST00000342420.5_Splice_Site_p.E228K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.E248K	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	266	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGCACAACTTCCTAAAAAAGA	0.333																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e14-1		transmembrane phosphatase with tensin homology							186.0	172.0	177.0					21																	10934997		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934997C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.796-1G>A	21.37:g.10934997C>T						TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice	p.E248_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	14	1109	-			266			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.741_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	15.30	2.793805	0.50102	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.30981	1.51;1.51;1.51	2.25	2.25	0.28309	Phosphatase tensin type (1);	0.118951	0.56097	U	0.000031	T	0.53514	0.1801	M	0.86178	2.8	0.51482	D	0.999923	D;D;P	0.89917	0.999;1.0;0.883	D;D;P	0.76071	0.972;0.987;0.688	T	0.58526	-0.7621	10	0.87932	D	0	-28.2763	8.1009	0.30857	0.0:1.0:0.0:0.0	.	228;248;266	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	K	248;266;228	ENSP00000298232:E248K;ENSP00000355208:E266K;ENSP00000344441:E228K	ENSP00000298232:E248K	E	-	1	0	TPTE	9956868	1.000000	0.71417	0.988000	0.46212	0.269000	0.26545	4.105000	0.57797	1.585000	0.49928	0.194000	0.17425	GAA		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	25	55	0	0	0	1	0	25	55				
GLRA1	2741	broad.mit.edu	37	5	151202405	151202405	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151202405G>A	ENST00000455880.2	-	9	1489	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	GLRA1_ENST00000545569.1_Silent_p.P310P|GLRA1_ENST00000274576.4_Silent_p.P393P			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	401					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGCAGGAGGGGGGTTGGTGG	0.552																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1177-1179)ccC>ccT		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)																																			SO:0001819	synonymous_variant	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151202405G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1203C>T	5.37:g.151202405G>A						GLRA1_ENST00000455880.2_Silent_p.P401P|GLRA1_ENST00000545569.1_Silent_p.P310P	p.P393P	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1471	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	401					B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	c.1179C>T	CCDS54942.1																																																																																				0.552	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			43	68	0	0	0	1	0	43	68				
ZC3H12B	340554	broad.mit.edu	37	X	64722486	64722486	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:64722486A>T	ENST00000338957.4	+	5	1975	c.1908A>T	c.(1906-1908)ttA>ttT	p.L636F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L625F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	636							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAAGCCTTAACACGAGTGC	0.532																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1906-1908)ttA>ttT		zinc finger CCCH-type containing 12B							60.0	62.0	61.0					X																	64722486		2000	4156	6156	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722486A>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1908A>T	X.37:g.64722486A>T	ENSP00000340839:p.Leu636Phe					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L625F	p.L636F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1975	+			625					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.1908A>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	16.21	3.059404	0.55325	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26067	1.76;1.77	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.49321	0.1550	M	0.70275	2.135	0.48185	D	0.999602	D	0.76494	0.999	D	0.85130	0.997	T	0.52419	-0.8578	10	0.72032	D	0.01	5.0439	12.6781	0.56906	1.0:0.0:0.0:0.0	.	625	Q5HYM0	ZC12B_HUMAN	F	636;625;572	ENSP00000340839:L636F;ENSP00000408077:L625F	ENSP00000218172:L572F	L	+	3	2	ZC3H12B	64639211	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.710000	0.54860	1.876000	0.54355	0.412000	0.27726	TTA		0.532	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		15	20	0	0	0	1	0	15	20				
L1CAM	3897	broad.mit.edu	37	X	153133565	153133565	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133565C>T	ENST00000370060.1	-	15	1905	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	L1CAM_ENST00000370055.1_Silent_p.E567E|L1CAM_ENST00000370057.3_Silent_p.E572E|L1CAM_ENST00000543994.1_Silent_p.E574E|L1CAM_ENST00000538883.1_Silent_p.E574E|L1CAM_ENST00000361699.4_Silent_p.E572E|L1CAM_ENST00000361981.3_Silent_p.E567E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	572	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCCATCCTCTATGAAGT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1714-1716)gaG>gaA		L1 cell adhesion molecule							62.0	53.0	56.0					X																	153133565		2203	4300	6503	SO:0001819	synonymous_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133565C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1716G>A	X.37:g.153133565C>T						L1CAM_ENST00000370055.1_Silent_p.E567E|L1CAM_ENST00000543994.1_Silent_p.E574E|L1CAM_ENST00000361981.3_Silent_p.E567E|L1CAM_ENST00000538883.1_Silent_p.E574E|L1CAM_ENST00000370057.3_Silent_p.E572E|L1CAM_ENST00000361699.4_Silent_p.E572E	p.E572E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			15	1905	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		572			Ig-like C2-type 6.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	c.1716G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	6.077	0.382490	0.11524	.	.	ENSG00000198910	ENST00000455590	.	.	.	5.58	-0.00747	0.14009	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.25400	N	0.988456	.	.	.	.	.	.	T	0.22906	-1.0203	4	.	.	.	.	1.7993	0.03068	0.3139:0.3983:0.1246:0.1632	.	.	.	.	K	30	.	.	R	-	2	0	L1CAM	152786759	0.000000	0.05858	0.061000	0.19648	0.876000	0.50452	-0.446000	0.06837	-0.499000	0.06623	0.468000	0.43344	AGG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		22	37	0	0	0	1	0	22	37				
PLPPR4	9890	broad.mit.edu	37	1	99771258	99771258	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:99771258G>A	ENST00000370185.3	+	7	1481	c.984G>A	c.(982-984)ggG>ggA	p.G328G	LPPR4_ENST00000457765.1_Silent_p.G270G|LPPR4_ENST00000370184.1_Silent_p.G170G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		328					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCTGTGGGGAATTTCCTGC	0.443																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(982-984)ggG>ggA									141.0	141.0	141.0					1																	99771258		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771258G>A																												ENST00000370185.3:c.984G>A	1.37:g.99771258G>A						LPPR4_ENST00000457765.1_Silent_p.G270G|LPPR4_ENST00000370184.1_Silent_p.G170G	p.G328G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1481	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	328					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.984G>A	CCDS757.1																																																																																				0.443	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			32	38	0	0	0	1	0	32	38				
ACD	65057	broad.mit.edu	37	16	67694198	67694198	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67694198G>T	ENST00000393919.4	-	1	448	c.184C>A	c.(184-186)Ctt>Att	p.L62I	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.L62I|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	62					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.L62F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCCTCGGAAGAGGAAGCTCC	0.736																																						ENST00000219251.8																			1	Substitution - Missense(1)	p.L62F(1)	skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(184-186)Ctt>Att		adrenocortical dysplasia homolog (mouse)							14.0	19.0	17.0					16																	67694198		2027	4195	6222	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694198G>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.184C>A	16.37:g.67694198G>T	ENSP00000377496:p.Leu62Ile					ACD_ENST00000393919.4_Missense_Mutation_p.L62I	p.L62I	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	515	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	62					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.184C>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498679	0.85069	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.37411	1.2;1.2	4.46	2.39	0.29439	.	0.601451	0.12929	N	0.427506	T	0.22589	0.0545	N	0.19112	0.55	0.23036	N	0.998395	P;D	0.56035	0.956;0.974	B;B	0.42087	0.207;0.375	T	0.08576	-1.0715	10	0.87932	D	0	-0.0317	6.6483	0.22947	0.2253:0.0:0.7747:0.0	.	62;62	Q96AP0;Q96AP0-2	ACD_HUMAN;.	I	62	ENSP00000219251:L62I;ENSP00000377496:L62I	ENSP00000219251:L62I	L	-	1	0	ACD	66251699	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	0.640000	0.24705	1.056000	0.40484	0.563000	0.77884	CTT		0.736	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		15	19	1	0	9.16793e-09	1	9.23705e-09	15	19				
TENM1	10178	broad.mit.edu	37	X	123630900	123630900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123630900G>A	ENST00000371130.3	-	20	3724	c.3661C>T	c.(3661-3663)Ccc>Tcc	p.P1221S	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000422452.2_Missense_Mutation_p.P1221S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1221					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCCGAGGGAAATATTCTC	0.398																																						ENST00000422452.2																			0											c.(3661-3663)Ccc>Tcc		teneurin transmembrane protein 1							67.0	68.0	68.0					X																	123630900		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123630900G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3661C>T	X.37:g.123630900G>A	ENSP00000360171:p.Pro1221Ser					TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S	p.P1221S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					20	3724	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3661C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790313	0.50102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90955	-2.76;-2.17	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.059445	0.64402	D	0.000002	D	0.88720	0.6513	L	0.45051	1.395	0.80722	D	1	P;B;P	0.35745	0.518;0.376;0.485	B;B;B	0.36666	0.129;0.073;0.23	D	0.88867	0.3330	10	0.66056	D	0.02	.	18.7655	0.91871	0.0:0.0:1.0:0.0	.	1220;1221;1221	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1221	ENSP00000360171:P1221S;ENSP00000403954:P1221S	ENSP00000360171:P1221S	P	-	1	0	ODZ1	123458581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	2.376000	0.81061	0.600000	0.82982	CCC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		48	61	0	0	0	1	0	48	61				
GPR124	25960	broad.mit.edu	37	8	37688398	37688398	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688398C>T	ENST00000412232.2	+	7	902	c.889C>T	c.(889-891)Ctc>Ttc	p.L297F	GPR124_ENST00000315215.7_Missense_Mutation_p.L297F	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	297	Ig-like.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L290F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCGGGCATCCTCCTGGCCGA	0.647																																						ENST00000315215.7																			1	Substitution - Missense(1)	p.L290F(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(889-891)Ctc>Ttc		G protein-coupled receptor 124							55.0	41.0	46.0					8																	37688398		2196	4289	6485	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37688398C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.889C>T	8.37:g.37688398C>T	ENSP00000406367:p.Leu297Phe					GPR124_ENST00000412232.2_Missense_Mutation_p.L297F	p.L297F			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	1252	+			297			Ig-like.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.889C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139224	0.06669	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.57907	0.37;0.53	5.02	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.504894	0.20519	N	0.090723	T	0.20129	0.0484	N	0.01874	-0.695	0.25546	N	0.987132	B;B	0.22276	0.067;0.012	B;B	0.24541	0.054;0.009	T	0.27054	-1.0085	10	0.07482	T	0.82	-18.2695	6.6814	0.23123	0.4381:0.4373:0.1246:0.0	.	297;297	Q96PE1-2;Q96PE1	.;GP124_HUMAN	F	290;297;297	ENSP00000323508:L297F;ENSP00000406367:L297F	ENSP00000323508:L297F	L	+	1	0	GPR124	37807556	0.955000	0.32602	0.997000	0.53966	0.754000	0.42855	1.833000	0.39161	1.076000	0.40961	0.655000	0.94253	CTC		0.647	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	5	0	0	0	1	0	6	5				
KALRN	8997	broad.mit.edu	37	3	123946878	123946878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:123946878C>T	ENST00000240874.3	+	2	266	c.109C>T	c.(109-111)Cct>Tct	p.P37S	KALRN_ENST00000460856.1_Missense_Mutation_p.P37S|KALRN_ENST00000360013.3_Missense_Mutation_p.P37S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	37	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGATGTCCTTCCTATCCTAAA	0.468																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(109-111)Cct>Tct		kalirin, RhoGEF kinase							278.0	263.0	268.0					3																	123946878		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123946878C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.109C>T	3.37:g.123946878C>T	ENSP00000240874:p.Pro37Ser					KALRN_ENST00000240874.3_Missense_Mutation_p.P37S|KALRN_ENST00000460856.1_Missense_Mutation_p.P37S	p.P37S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			2	236	+			37			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.109C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988674	0.53934	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	D;D;D	0.83591	-1.74;-1.74;-1.74	5.03	5.03	0.67393	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.82660	0.5085	M	0.80616	2.505	0.80722	D	1	B;B;B	0.17038	0.011;0.002;0.02	B;B;B	0.25291	0.027;0.003;0.059	T	0.77451	-0.2583	10	0.25751	T	0.34	.	11.9512	0.52956	0.0:0.9207:0.0:0.0793	.	37;37;37	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	S	37	ENSP00000418611:P37S;ENSP00000240874:P37S;ENSP00000353109:P37S	ENSP00000240874:P37S	P	+	1	0	KALRN	125429568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.851000	0.62896	2.616000	0.88540	0.591000	0.81541	CCT		0.468	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		65	101	0	0	0	1	0	65	101				
HTT	3064	broad.mit.edu	37	4	3117072	3117072	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3117072C>T	ENST00000355072.5	+	7	934	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	263					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGTCAAGCTCCCCCACCATTC	0.453																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(787-789)tcC>tcT		huntingtin							81.0	82.0	82.0					4																	3117072		2052	4209	6261	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3117072C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.789C>T	4.37:g.3117072C>T							p.S263S	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	7	934	+		all_epithelial(65;0.18)	263					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.789C>T	CCDS43206.1																																																																																				0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		24	18	0	0	0	1	0	24	18				
RYR2	6262	broad.mit.edu	37	1	237777985	237777985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237777985G>A	ENST00000366574.2	+	37	5874	c.5557G>A	c.(5557-5559)Gaa>Aaa	p.E1853K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.E1851K(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5557-5559)Gaa>Aaa		ryanodine receptor 2 (cardiac)							55.0	58.0	57.0					1																	237777985		1993	4188	6181	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777985G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5557G>A	1.37:g.237777985G>A	ENSP00000355533:p.Glu1853Lys					RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K	p.E1853K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5874	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1853			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5557G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179958	0.78564	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73152	-0.72;-0.72;-0.72	5.62	5.62	0.85841	.	0.184624	0.32719	N	0.005738	T	0.73489	0.3593	L	0.42744	1.35	0.80722	D	1	D	0.57257	0.979	P	0.49999	0.628	T	0.75648	-0.3245	10	0.62326	D	0.03	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1853	Q92736	RYR2_HUMAN	K	1853;1851;1837	ENSP00000355533:E1853K;ENSP00000353174:E1851K;ENSP00000443798:E1837K	ENSP00000353174:E1851K	E	+	1	0	RYR2	235844608	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.901000	0.87382	2.665000	0.90641	0.650000	0.86243	GAA		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	28	0	0	0	1	0	12	28				
C8orf34	116328	broad.mit.edu	37	8	69552622	69552622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:69552622G>A	ENST00000539993.1	+	8	1408	c.859G>A	c.(859-861)Gat>Aat	p.D287N	C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000337103.4_Missense_Mutation_p.D262N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	287										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GGATCTTAATGATTTAAGAAT	0.398																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(784-786)Gat>Aat		chromosome 8 open reading frame 34							74.0	70.0	71.0					8																	69552622		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552622G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.859G>A	8.37:g.69552622G>A	ENSP00000438159:p.Asp287Asn					C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N	p.D262N			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2376	+			287					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.784G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.806582	0.90623	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.64260	0.08;0.15;0.1;-0.09	5.47	5.47	0.80525	.	0.183958	0.56097	D	0.000026	T	0.77691	0.4168	M	0.61703	1.905	0.58432	D	0.999992	D	0.71674	0.998	D	0.81914	0.995	T	0.76008	-0.3116	9	.	.	.	-17.0818	19.333	0.94299	0.0:0.0:1.0:0.0	.	287	Q49A92	CH034_HUMAN	N	373;287;262;31	ENSP00000427820:D373N;ENSP00000438159:D287N;ENSP00000337174:D262N;ENSP00000319532:D31N	.	D	+	1	0	C8orf34	69715176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.571000	0.86741	0.591000	0.81541	GAT		0.398	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		17	21	0	0	0	1	0	17	21				
BCHE	590	broad.mit.edu	37	3	165548246	165548246	+	Silent	SNP	C	C	T	rs537314243		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:165548246C>T	ENST00000264381.3	-	2	742	c.576G>A	c.(574-576)ggG>ggA	p.G192G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	192					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AACCCATGTTCCCTGGAGCCT	0.428																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(574-576)ggG>ggA		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						67.0	71.0	70.0					3																	165548246		2203	4300	6503	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548246C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.576G>A	3.37:g.165548246C>T						BCHE_ENST00000540653.1_Intron	p.G192G	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	742	-			192					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.576G>A	CCDS3198.1																																																																																				0.428	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			28	49	0	0	0	1	0	28	49				
KIAA1549L	25758	broad.mit.edu	37	11	33564449	33564449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:33564449C>T	ENST00000321505.4	+	1	629	c.449C>T	c.(448-450)cCg>cTg	p.P150L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P150L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P150L			Q6ZVL6	K154L_HUMAN	KIAA1549-like	150						integral component of membrane (GO:0016021)											TCTGCTAACCCGCTGCATTTG	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(448-450)cCg>cTg		KIAA1549-like							71.0	70.0	71.0					11																	33564449		1904	4101	6005	SO:0001583	missense	25758							g.chr11:33564449C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.449C>T	11.37:g.33564449C>T	ENSP00000315295:p.Pro150Leu		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P150L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P150L	p.P150L							1	629	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.449C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	6.150	0.395914	0.11638	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.6	-0.0495	0.13834	.	.	.	.	.	T	0.25269	0.0614	N	0.24115	0.695	0.09310	N	1	B;B	0.17465	0.007;0.022	B;B	0.12156	0.001;0.007	T	0.19516	-1.0303	8	0.49607	T	0.09	-0.4046	5.2624	0.15582	0.0:0.5699:0.1525:0.2776	.	150;150	E9PAT2;Q6ZVL6-2	.;.	L	150	.	ENSP00000265654:P150L	P	+	2	0	C11orf41	33521025	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	0.595000	0.24029	-0.090000	0.12462	0.561000	0.74099	CCG		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		34	61	0	0	0	1	0	34	61				
COL19A1	1310	broad.mit.edu	37	6	70589476	70589476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70589476C>T	ENST00000322773.4	+	2	119	c.17C>T	c.(16-18)cCt>cTt	p.P6L	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	6					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTCACTGGCCCTTGGAAACTT	0.433																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(16-18)cCt>cTt		collagen, type XIX, alpha 1							170.0	131.0	144.0					6																	70589476		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70589476C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.17C>T	6.37:g.70589476C>T	ENSP00000316030:p.Pro6Leu					COL19A1_ENST00000476656.1_3'UTR	p.P6L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			2	119	+			6					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.17C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	6.659	0.490168	0.12702	.	.	ENSG00000082293	ENST00000322773	T	0.42131	0.98	5.73	2.79	0.32731	.	0.558948	0.17307	N	0.179026	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06625	-1.0816	10	0.46703	T	0.11	.	7.1961	0.25853	0.0:0.5534:0.2857:0.1608	.	6	Q14993	COJA1_HUMAN	L	6	ENSP00000316030:P6L	ENSP00000316030:P6L	P	+	2	0	COL19A1	70646197	0.554000	0.26522	0.996000	0.52242	0.189000	0.23516	0.183000	0.16919	0.791000	0.33826	-0.244000	0.11960	CCT		0.433	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	47	0	0	0	1	0	5	47				
EXOC4	60412	broad.mit.edu	37	7	133041229	133041229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133041229G>C	ENST00000253861.4	+	6	938	c.909G>C	c.(907-909)ttG>ttC	p.L303F	EXOC4_ENST00000393161.2_Missense_Mutation_p.L303F|EXOC4_ENST00000539845.1_Missense_Mutation_p.L202F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	303					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TAGAGCGCTTGGAGCAGGAGT	0.493																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(907-909)ttG>ttC		exocyst complex component 4							87.0	83.0	85.0					7																	133041229		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133041229G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.909G>C	7.37:g.133041229G>C	ENSP00000253861:p.Leu303Phe					EXOC4_ENST00000539845.1_Missense_Mutation_p.L202F|EXOC4_ENST00000393161.2_Missense_Mutation_p.L303F	p.L303F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			6	938	+		Esophageal squamous(399;0.129)	303					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.909G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889426	0.72524	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.52	2.68	0.31781	.	0.000000	0.64402	D	0.000001	T	0.68016	0.2955	M	0.77313	2.365	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.60886	0.795;0.88	T	0.66176	-0.5989	9	0.62326	D	0.03	.	6.0713	0.19891	0.2753:0.126:0.5987:0.0	.	303;303	Q96A65;Q8TAR2	EXOC4_HUMAN;.	F	303;303;202	.	ENSP00000253861:L303F	L	+	3	2	EXOC4	132691769	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.159000	0.31749	0.357000	0.24183	0.655000	0.94253	TTG		0.493	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		24	36	0	0	0	1	0	24	36				
MECP2	4204	broad.mit.edu	37	X	153296670	153296670	+	Silent	SNP	C	C	T	rs61749722|rs267608506		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153296670C>T	ENST00000303391.6	-	4	858	c.609G>A	c.(607-609)acG>acA	p.T203T	MECP2_ENST00000407218.1_Missense_Mutation_p.R167H|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.T215T	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	203			T -> M. {ECO:0000269|PubMed:11007980, ECO:0000269|PubMed:11055898}.		adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCTCTGACGTGGCCGCCT	0.597													C|||	1	0.000264901	0.0	0.0014	3775	,	,		11596	0.0		0.0	False		,,,				2504	0.0					ENST00000407218.1																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	GRCh37	CI067907	MECP2	I	rs61749722	c.(499-501)cGt>cAt		methyl CpG binding protein 2 (Rett syndrome)							123.0	125.0	125.0					X																	153296670		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296670C>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.609G>A	X.37:g.153296670C>T						MECP2_ENST00000303391.6_Silent_p.T203T|MECP2_ENST00000453960.2_Silent_p.T215T	p.R167H			P51608	MECP2_HUMAN			5	685	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		82		R -> W (in MRXS13).			O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.500G>A	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	C	2.896	-0.228585	0.06022	.	.	ENSG00000169057	ENST00000407218	D	0.97888	-4.59	5.48	-6.31	0.02001	.	.	.	.	.	D	0.95620	0.8576	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.92202	0.5769	6	0.62326	D	0.03	-0.0318	8.1255	0.30997	0.0:0.3404:0.2312:0.4284	rs61749722	.	.	.	H	167	ENSP00000384865:R167H	ENSP00000384865:R167H	R	-	2	0	MECP2	152949864	0.000000	0.05858	0.001000	0.08648	0.305000	0.27757	-1.601000	0.02081	-1.064000	0.03172	-0.192000	0.12808	CGT		0.597	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		118	174	0	0	0	1	0	118	174				
CLASP1	23332	broad.mit.edu	37	2	122104659	122104659	+	Silent	SNP	G	G	A	rs370336289		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122104659G>A	ENST00000263710.4	-	39	4874	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I	CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000455322.2_Silent_p.I1451I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000541859.1_Silent_p.I1212I|CLASP1_ENST00000541377.1_Silent_p.I1434I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1495	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGTCTTCTCCGATTACGGAAT	0.502													G|||	0	0.0	0.0	0.0	5008	,	,		20900	0.0		0.0	False		,,,				2504	0.0					ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(4483-4485)atC>atT		cytoplasmic linker associated protein 1		G	,,,	0,4058		0,0,2029	91.0	92.0	92.0		4308,4284,4302,4485	1.0	1.0	2		92	2,8346		0,2,4172	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLASP1	NM_001142273.1,NM_001142274.1,NM_001207051.1,NM_015282.2	,,,	0,2,6201	AA,AG,GG		0.024,0.0,0.0161	,,,	1436/1480,1428/1472,1434/1478,1495/1539	122104659	2,12404	2029	4174	6203	SO:0001819	synonymous_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122104659G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4485C>T	2.37:g.122104659G>A						CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000541377.1_Silent_p.I1434I|CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000541859.1_Silent_p.I1212I|CLASP1_ENST00000455322.2_Silent_p.I1451I	p.I1495I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			39	4874	-	Renal(3;0.0496)		1495			Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37	c.4485C>T																																																																																					0.502	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		3	7	0	0	0	1	0	3	7				
COPS3	8533	broad.mit.edu	37	17	17163629	17163629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17163629G>A	ENST00000268717.5	-	8	1028	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	COPS3_ENST00000539941.2_Nonsense_Mutation_p.Q288*|COPS3_ENST00000439936.2_Intron	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	308	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GTTAGCCTCTGAATATTCTTC	0.493																																						ENST00000539941.2																			0				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(862-864)Cag>Tag		COP9 signalosome subunit 3							162.0	142.0	149.0					17																	17163629		2203	4300	6503	SO:0001587	stop_gained	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17163629G>A	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.922C>T	17.37:g.17163629G>A	ENSP00000268717:p.Gln308*					COPS3_ENST00000268717.5_Nonsense_Mutation_p.Q308*|COPS3_ENST00000439936.2_Intron	p.Q288*	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN			8	1070	-			308			PCI.		B2R683|B4DY81|O43191|Q7LDR6	Nonsense_Mutation	SNP	ENST00000268717.5	37	c.862C>T	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061703	0.97246	.	.	ENSG00000141030	ENST00000268717;ENST00000539941	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-15.5292	18.3076	0.90188	0.0:0.0:1.0:0.0	.	.	.	.	X	308;288	.	ENSP00000268717:Q308X	Q	-	1	0	COPS3	17104354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.317000	0.96327	2.564000	0.86499	0.655000	0.94253	CAG		0.493	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			38	58	0	0	0	1	0	38	58				
BIRC6	57448	broad.mit.edu	37	2	32824950	32824950	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:32824950C>T	ENST00000421745.2	+	70	14109	c.13975C>T	c.(13975-13977)Ctt>Ttt	p.L4659F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4659	Ubiquitin-conjugating.				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)					CAATCCAAACCTTTATAATGA	0.333																																					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.(13975-13977)Ctt>Ttt		baculoviral IAP repeat containing 6							88.0	84.0	86.0					2																	32824950		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32824950C>T	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.13975C>T	2.37:g.32824950C>T	ENSP00000393596:p.Leu4659Phe						p.L4659F	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			70	14109	+	Acute lymphoblastic leukemia(172;0.155)		4659			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13975C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565625	0.86439	.	.	ENSG00000115760	ENST00000421745	T	0.73469	-0.75	5.69	4.82	0.62117	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059585	0.64402	N	0.000004	D	0.86268	0.5892	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88217	0.2894	10	0.87932	D	0	.	14.468	0.67497	0.0:0.9297:0.0:0.0703	.	4659	Q9NR09	BIRC6_HUMAN	F	4659	ENSP00000393596:L4659F	ENSP00000393596:L4659F	L	+	1	0	BIRC6	32678454	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.784000	0.68990	1.397000	0.46682	0.650000	0.86243	CTT		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		14	13	0	0	0	1	0	14	13				
CSMD3	114788	broad.mit.edu	37	8	113697683	113697683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697683G>A	ENST00000297405.5	-	15	2678	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	812	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCAGCCTGAAATTCCAAT	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2434-2436)Cag>Tag		CUB and Sushi multiple domains 3							82.0	80.0	81.0					8																	113697683		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113697683G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2434C>T	8.37:g.113697683G>A	ENSP00000297405:p.Gln812*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812*	p.Q812*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2678	-			812			CUB 4.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2434C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	44	10.699671	0.99452	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	772;812;152;708;812	.	ENSP00000297405:Q812X	Q	-	1	0	CSMD3	113766859	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	CAG		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	42	0	0	0	1	0	25	42				
C10orf25	220979	broad.mit.edu	37	10	45495857	45495857	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45495857G>A	ENST00000298298.1	-	2	366	c.338C>T	c.(337-339)cCt>cTt	p.P113L	CEP164P1_ENST00000456938.2_RNA|ZNF22_ENST00000298299.3_5'Flank	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	113						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						GGATGGCTGAGGAGGAGCCTG	0.512																																						ENST00000298298.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(337-339)cCt>cTt		chromosome 10 open reading frame 25							78.0	79.0	78.0					10																	45495857		2203	4300	6503	SO:0001583	missense	220979					extracellular region		g.chr10:45495857G>A	AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.338C>T	10.37:g.45495857G>A	ENSP00000298298:p.Pro113Leu						p.P113L	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN			2	366	-			113					A1L424|Q96NM5	Missense_Mutation	SNP	ENST00000298298.1	37	c.338C>T	CCDS31187.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586839	0.28268	.	.	ENSG00000165511	ENST00000298298	T	0.39997	1.05	2.6	1.69	0.24217	.	.	.	.	.	T	0.22003	0.0530	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.22386	0.039	T	0.21690	-1.0238	9	0.87932	D	0	.	5.4106	0.16346	0.161:0.0:0.839:0.0	.	113	Q5T742	CJ025_HUMAN	L	113	ENSP00000298298:P113L	ENSP00000298298:P113L	P	-	2	0	C10orf25	44815863	0.000000	0.05858	0.001000	0.08648	0.719000	0.41307	0.092000	0.15066	0.645000	0.30675	0.563000	0.77884	CCT		0.512	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047763.1	NM_145022		7	14	0	0	0	1	0	7	14				
RERE	473	broad.mit.edu	37	1	8716264	8716264	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8716264C>T	ENST00000337907.3	-	3	727	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RERE_ENST00000400908.2_Silent_p.E31E|RERE_ENST00000400907.2_Silent_p.E31E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	31					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AATTCTCACTCTCTCTTGCTT	0.493																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(91-93)gaG>gaA		arginine-glutamic acid dipeptide (RE) repeats							167.0	169.0	168.0					1																	8716264		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716264C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.93G>A	1.37:g.8716264C>T						RERE_ENST00000400907.2_Silent_p.E31E|RERE_ENST00000400908.2_Silent_p.E31E	p.E31E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	727	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	31					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.93G>A	CCDS95.1																																																																																				0.493	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			100	81	0	0	0	1	0	100	81				
ESPNP	284729	broad.mit.edu	37	1	17030484	17030484	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17030484G>A	ENST00000492551.1	-	0	851					NR_026567.1				espin pseudogene																		TGGAGGAGCAGGAGTCGTAGT	0.622																																						ENST00000492551.1																			0																																																			284729							g.chr1:17030484G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030484G>A								NR_026567.1						0	851	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.622	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	82	0	0	0	1	0	6	82				
ORC1	4998	broad.mit.edu	37	1	52847412	52847412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:52847412G>A	ENST00000371568.3	-	14	2253	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	ORC1_ENST00000371566.1_Nonsense_Mutation_p.Q679*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	679	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTATAGGGCTGGAAGCACATC	0.527																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2035-2037)Cag>Tag		origin recognition complex, subunit 1							105.0	99.0	101.0					1																	52847412		2203	4300	6503	SO:0001587	stop_gained	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52847412G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2035C>T	1.37:g.52847412G>A	ENSP00000360623:p.Gln679*					ORC1_ENST00000371566.1_Nonsense_Mutation_p.Q679*	p.Q679*	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			14	2253	-			679			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Nonsense_Mutation	SNP	ENST00000371568.3	37	c.2035C>T	CCDS566.1	.	.	.	.	.	.	.	.	.	.	G	39	7.690102	0.98434	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.4334	18.4752	0.90790	0.0:0.0:1.0:0.0	.	.	.	.	X	679	.	ENSP00000360621:Q679X	Q	-	1	0	ORC1	52620000	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.996000	0.93539	2.661000	0.90470	0.650000	0.86243	CAG		0.527	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		29	39	0	0	0	1	0	29	39				
KIAA1024	23251	broad.mit.edu	37	15	79749050	79749050	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749050C>T	ENST00000305428.3	+	2	636	c.561C>T	c.(559-561)aaC>aaT	p.N187N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	187						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGGTGAAAAACCGCGCCGCTT	0.577																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(559-561)aaC>aaT		KIAA1024							49.0	53.0	52.0					15																	79749050		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749050C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.561C>T	15.37:g.79749050C>T							p.N187N	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	636	+			187					A7MD43	Silent	SNP	ENST00000305428.3	37	c.561C>T	CCDS32306.1																																																																																				0.577	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		17	37	0	0	0	1	0	17	37				
ZDBF2	57683	broad.mit.edu	37	2	207171881	207171881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207171881C>T	ENST00000374423.3	+	5	3015	c.2629C>T	c.(2629-2631)Cat>Tat	p.H877Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	877							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCGGATTCCCATGCCCCTCT	0.378																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2629-2631)Cat>Tat		zinc finger, DBF-type containing 2							69.0	64.0	66.0					2																	207171881		1837	4095	5932	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171881C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2629C>T	2.37:g.207171881C>T	ENSP00000363545:p.His877Tyr						p.H877Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	3015	+			877					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2629C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.097996	0.01843	.	.	ENSG00000204186	ENST00000374423	T	0.37584	1.19	4.67	-6.06	0.02165	.	1.530770	0.04317	N	0.350037	T	0.08179	0.0204	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30446	-0.9978	10	0.02654	T	1	.	5.4499	0.16556	0.199:0.0782:0.5594:0.1634	.	877	Q9HCK1	ZDBF2_HUMAN	Y	877	ENSP00000363545:H877Y	ENSP00000363545:H877Y	H	+	1	0	ZDBF2	206880126	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	-0.020000	0.12525	-1.066000	0.03164	-0.238000	0.12139	CAT		0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		18	48	0	0	0	1	0	18	48				
USP29	57663	broad.mit.edu	37	19	57640145	57640145	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57640145G>A	ENST00000254181.4	+	4	556	c.102G>A	c.(100-102)aaG>aaA	p.K34K	USP29_ENST00000598197.1_Silent_p.K34K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	34					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGACAAAAGGAAATTAAAC	0.353																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(100-102)aaG>aaA		ubiquitin specific peptidase 29							52.0	53.0	53.0					19																	57640145		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640145G>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.102G>A	19.37:g.57640145G>A						USP29_ENST00000598197.1_Silent_p.K34K	p.K34K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	556	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	34						Silent	SNP	ENST00000254181.4	37	c.102G>A	CCDS33124.1																																																																																				0.353	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			22	30	0	0	0	1	0	22	30				
CHST1	8534	broad.mit.edu	37	11	45671279	45671279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45671279C>T	ENST00000308064.2	-	4	1865	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	399					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACCAGGCTGACCGAGGGGTTC	0.662																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(1195-1197)Gtc>Atc		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							41.0	46.0	44.0					11																	45671279		2203	4295	6498	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671279C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1195G>A	11.37:g.45671279C>T	ENSP00000309270:p.Val399Ile						p.V399I	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1865	-			399					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.1195G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	1.233	-0.623660	0.03636	.	.	ENSG00000175264	ENST00000308064	D	0.96041	-3.89	4.43	-0.986	0.10252	.	0.493983	0.21561	N	0.072565	D	0.82697	0.5093	N	0.04132	-0.27	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.72704	-0.4213	10	0.07813	T	0.8	-16.1572	5.6572	0.17648	0.1359:0.4192:0.0:0.4449	.	399	O43916	CHST1_HUMAN	I	399	ENSP00000309270:V399I	ENSP00000309270:V399I	V	-	1	0	CHST1	45627855	0.006000	0.16342	0.279000	0.24732	0.988000	0.76386	-0.961000	0.03845	-0.150000	0.11195	0.305000	0.20034	GTC		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		24	51	0	0	0	1	0	24	51				
OR8H3	390152	broad.mit.edu	37	11	55890546	55890546	+	Missense_Mutation	SNP	G	G	A	rs547287374		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55890546G>A	ENST00000313472.3	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCACTTCAGGAAAGCAGAAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0					ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(697-699)gGa>gAa		olfactory receptor, family 8, subfamily H, member 3							130.0	122.0	125.0					11																	55890546		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890546G>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.698G>A	11.37:g.55890546G>A	ENSP00000323928:p.Gly233Glu						p.G233E	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	698	+	Esophageal squamous(21;0.00693)		233					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.698G>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929671	0.34096	.	.	ENSG00000181761	ENST00000313472	T	0.00287	8.29	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.00468	0.0015	M	0.86953	2.85	0.09310	N	1	P	0.46512	0.879	P	0.47827	0.558	T	0.27468	-1.0073	10	0.87932	D	0	.	12.4558	0.55704	0.0:0.0:0.8318:0.1682	.	233	Q8N146	OR8H3_HUMAN	E	233	ENSP00000323928:G233E	ENSP00000323928:G233E	G	+	2	0	OR8H3	55647122	0.638000	0.27225	0.992000	0.48379	0.401000	0.30781	2.474000	0.45154	1.734000	0.51633	0.173000	0.16961	GGA		0.398	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		48	48	0	0	0	1	0	48	48				
ASXL3	80816	broad.mit.edu	37	18	31324489	31324489	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324489C>T	ENST00000269197.5	+	12	4677	c.4677C>T	c.(4675-4677)ctC>ctT	p.L1559L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1559					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCACAAGTCTCCGAGAATTAC	0.483											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4675-4677)ctC>ctT		additional sex combs like 3 (Drosophila)							31.0	30.0	30.0					18																	31324489		1925	4145	6070	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324489C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4677C>T	18.37:g.31324489C>T			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.L1559L	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4677	+			1559					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4677C>T	CCDS45847.1																																																																																				0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	15	0	0	0	1	0	12	15				
SCAP	22937	broad.mit.edu	37	3	47462202	47462202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47462202C>T	ENST00000265565.5	-	12	1817	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	SCAP_ENST00000545718.1_Missense_Mutation_p.G77R|SCAP_ENST00000441517.2_Missense_Mutation_p.G214R|SCAP_ENST00000465628.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	469					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTTGGCTGTCCCACTGGCTTG	0.652											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1405-1407)Gga>Aga		SREBF chaperone							50.0	51.0	51.0					3																	47462202		2203	4298	6501	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47462202C>T	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1405G>A	3.37:g.47462202C>T	ENSP00000265565:p.Gly469Arg		OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.G214R|SCAP_ENST00000545718.1_Missense_Mutation_p.G77R	p.G469R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	12	1817	-			469					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.1405G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018563	0.35606	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718;ENST00000383739	T;T;T	0.80393	-1.37;-1.32;0.87	5.27	5.27	0.74061	.	0.244803	0.39274	N	0.001417	T	0.74061	0.3667	L	0.44542	1.39	0.44409	D	0.997326	P;P	0.47106	0.89;0.725	B;B	0.44315	0.446;0.26	T	0.69989	-0.4995	10	0.23302	T	0.38	-29.7893	10.3259	0.43793	0.0:0.8788:0.0:0.1212	.	214;469	F8W921;Q12770	.;SCAP_HUMAN	R	469;96;469;214;77;162	ENSP00000265565:G469R;ENSP00000416847:G214R;ENSP00000438956:G77R	ENSP00000265565:G469R	G	-	1	0	SCAP	47437206	0.992000	0.36948	0.998000	0.56505	0.140000	0.21249	2.640000	0.46579	2.745000	0.94114	0.462000	0.41574	GGA		0.652	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		25	40	0	0	0	1	0	25	40				
SCML1	6322	broad.mit.edu	37	X	17771378	17771378	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17771378G>A	ENST00000380041.3	+	8	1184	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	SCML1_ENST00000380045.3_Splice_Site_p.E165K|SCML1_ENST00000380043.3_Splice_Site_p.E259K|SCML1_ENST00000398080.1_Splice_Site_p.E165K	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	286	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCTCCATAGGAAATTGACGG	0.423																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.e7-1		sex comb on midleg-like 1 (Drosophila)							97.0	89.0	91.0					X																	17771378		2203	4300	6503	SO:0001630	splice_region_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17771378G>A		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.856-1G>A	X.37:g.17771378G>A						SCML1_ENST00000398080.1_Splice_Site_p.E165_splice|SCML1_ENST00000380045.3_Splice_Site_p.E165_splice|SCML1_ENST00000380041.3_Splice_Site_p.E286_splice	p.E259_splice	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			7	1103	+	Hepatocellular(33;0.183)		286			SAM.		B0FZN6|B2RA08|Q5H968|Q5H969	Splice_Site	SNP	ENST00000380041.3	37	c.774_splice	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269994	0.40194	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.16	2.39	0.29439	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.880348	0.09615	N	0.778324	T	0.55130	0.1901	M	0.90369	3.11	0.30371	N	0.782901	B;B	0.24768	0.091;0.111	B;B	0.20577	0.018;0.03	T	0.54437	-0.8294	9	.	.	.	-3.3145	10.4695	0.44629	0.146:0.0:0.854:0.0	.	259;286	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	K	165;286;259;165	ENSP00000369384:E165K;ENSP00000369380:E286K;ENSP00000369382:E259K;ENSP00000381154:E165K	.	E	+	1	0	SCML1	17681299	1.000000	0.71417	0.009000	0.14445	0.001000	0.01503	7.326000	0.79133	0.354000	0.24105	-1.167000	0.01749	GAA		0.423	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746	Missense_Mutation	45	56	0	0	0	1	0	45	56				
C5orf42	65250	broad.mit.edu	37	5	37107724	37107724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:37107724G>A	ENST00000508244.1	-	51	9667	c.9574C>T	c.(9574-9576)Cac>Tac	p.H3192Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.H3192Y|C5orf42_ENST00000274258.7_Missense_Mutation_p.H2090Y			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3192						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGGCCCAGTGGACAGACAGG	0.552																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6268-6270)Cac>Tac		chromosome 5 open reading frame 42							41.0	33.0	36.0					5																	37107724		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37107724G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9574C>T	5.37:g.37107724G>A	ENSP00000421690:p.His3192Tyr					C5orf42_ENST00000508244.1_Missense_Mutation_p.H3192Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H3192Y	p.H2090Y			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		52	9855	-	all_lung(31;0.000616)		3192					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.6268C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858006	0.71834	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.28	4.42	0.53409	.	0.757438	0.11965	N	0.512383	T	0.38532	0.1044	L	0.38838	1.175	0.09310	N	0.999993	B;B	0.15930	0.0;0.015	B;B	0.13407	0.001;0.009	T	0.22800	-1.0206	10	0.41790	T	0.15	.	10.0216	0.42046	0.0909:0.0:0.909:0.0	.	3192;2090	E9PH94;Q9H799	.;CE042_HUMAN	Y	3192;3192;2090;2258	ENSP00000421690:H3192Y;ENSP00000389014:H3192Y;ENSP00000274258:H2090Y;ENSP00000424223:H2258Y	ENSP00000274258:H2090Y	H	-	1	0	C5orf42	37143481	0.022000	0.18835	0.586000	0.28679	0.647000	0.38526	2.173000	0.42472	1.607000	0.50170	0.655000	0.94253	CAC		0.552	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		4	22	0	0	0	1	0	4	22				
RBP3	5949	broad.mit.edu	37	10	48389615	48389615	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389615G>A	ENST00000224600.4	-	1	1376	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	421	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCTTGCCGGATAGCCTCGT	0.637																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1261-1263)atC>atT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						56.0	51.0	52.0					10																	48389615		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389615G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1263C>T	10.37:g.48389615G>A							p.I421I	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1376	-			421			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1263C>T	CCDS7218.1																																																																																				0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		21	40	0	0	0	1	0	21	40				
C6orf118	168090	broad.mit.edu	37	6	165715439	165715439	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715439C>T	ENST00000230301.8	-	2	392	c.372G>A	c.(370-372)caG>caA	p.Q124Q	C6orf118_ENST00000543069.1_Silent_p.Q20Q	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	124										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCGGGGTGTCCTGGGCCTCAC	0.637																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(58-60)caG>caA		chromosome 6 open reading frame 118							68.0	72.0	71.0					6																	165715439		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715439C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.372G>A	6.37:g.165715439C>T						C6orf118_ENST00000230301.8_Silent_p.Q124Q	p.Q20Q			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	641	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	124					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.60G>A	CCDS5288.1																																																																																				0.637	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		43	24	0	0	0	1	0	43	24				
GRAMD1B	57476	broad.mit.edu	37	11	123448163	123448163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123448163G>A	ENST00000529750.1	+	2	439	c.112G>A	c.(112-114)Gga>Aga	p.G38R	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G38R|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G38R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	38						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GAACCAGGACGGAGACACCAT	0.682											OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(112-114)Gga>Aga		GRAM domain containing 1B							22.0	28.0	26.0					11																	123448163		2118	4223	6341	SO:0001583	missense	57476					integral to membrane		g.chr11:123448163G>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.112G>A	11.37:g.123448163G>A	ENSP00000436500:p.Gly38Arg		OREG0021454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1526	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G38R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G38R	p.G38R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	2	439	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	38					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.112G>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	G	34	5.301802	0.95601	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000534764	T;T;T;T	0.31510	1.92;1.89;1.89;1.49	4.92	4.92	0.64577	.	0.057171	0.64402	D	0.000001	T	0.32556	0.0833	N	0.14661	0.345	0.53688	D	0.999977	D;D;D	0.69078	0.98;0.997;0.966	P;P;P	0.58520	0.796;0.84;0.563	T	0.08006	-1.0743	10	0.14252	T	0.57	.	18.1148	0.89549	0.0:0.0:1.0:0.0	.	38;38;38	F5H572;Q3KR37;E7EPH8	.;GRM1B_HUMAN;.	R	38;38;38;38;34	ENSP00000402457:G38R;ENSP00000325628:G38R;ENSP00000436500:G38R;ENSP00000434214:G34R	ENSP00000325628:G38R	G	+	1	0	GRAMD1B	122953373	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.257000	0.65473	2.275000	0.75901	0.462000	0.41574	GGA		0.682	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		10	10	0	0	0	1	0	10	10				
AP5Z1	9907	broad.mit.edu	37	7	4830308	4830308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:4830308G>A	ENST00000348624.4	+	16	2037	c.1943G>A	c.(1942-1944)tGg>tAg	p.W648*	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000490487.1_Intron	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	648					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCTAGGTGTGGGCCATCGGC	0.647																																						ENST00000348624.4																			0											c.(1942-1944)tGg>tAg		adaptor-related protein complex 5, zeta 1 subunit							38.0	45.0	43.0					7																	4830308		1994	4143	6137	SO:0001587	stop_gained	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830308G>A	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1943G>A	7.37:g.4830308G>A	ENSP00000297562:p.Trp648*					AP5Z1_ENST00000490487.1_Intron	p.W648*	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			16	2037	+			648					Q8N3X2|Q96H80	Nonsense_Mutation	SNP	ENST00000348624.4	37	c.1943G>A	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373348	0.98245	.	.	ENSG00000242802	ENST00000348624	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2919	0.90133	0.0:0.0:1.0:0.0	.	.	.	.	X	648	.	ENSP00000297562:W648X	W	+	2	0	KIAA0415	4796834	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	9.375000	0.97178	2.642000	0.89623	0.549000	0.68633	TGG		0.647	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			19	13	0	0	0	1	0	19	13				
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(79-81)Gaa>Aaa		myogenic factor 5							50.0	47.0	48.0					12																	81110921		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110921G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.79G>A	12.37:g.81110921G>A	ENSP00000228644:p.Glu27Lys						p.E27K	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	231	+			27					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.79G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976181	0.53720	.	.	ENSG00000111049	ENST00000228644	T	0.77358	-1.09	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.424968	0.26159	N	0.025983	T	0.73760	0.3628	L	0.51422	1.61	0.42261	D	0.992017	B	0.31413	0.322	B	0.34093	0.175	T	0.68550	-0.5379	10	0.07482	T	0.82	-2.3929	19.8676	0.96824	0.0:0.0:1.0:0.0	.	27	P13349	MYF5_HUMAN	K	27	ENSP00000228644:E27K	ENSP00000228644:E27K	E	+	1	0	MYF5	79635052	1.000000	0.71417	0.985000	0.45067	0.840000	0.47671	6.175000	0.71949	2.941000	0.99782	0.655000	0.94253	GAA		0.622	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		19	32	0	0	0	1	0	19	32				
MYH2	4620	broad.mit.edu	37	17	10430364	10430364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10430364G>A	ENST00000245503.5	-	29	4265	c.3881C>T	c.(3880-3882)tCa>tTa	p.S1294L	MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1294					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGCTGGCGTGAAAACTCACC	0.388																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3880-3882)tCa>tTa		myosin, heavy chain 2, skeletal muscle, adult							72.0	68.0	69.0					17																	10430364		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10430364G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3881C>T	17.37:g.10430364G>A	ENSP00000245503:p.Ser1294Leu					MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	p.S1294L	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			29	4265	-			1294					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3881C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270571	0.59540	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82711	-1.64;-1.64	4.93	4.93	0.64822	Myosin tail (1);	0.000000	0.33572	U	0.004771	D	0.83468	0.5261	M	0.77103	2.36	0.36165	D	0.848402	B	0.22800	0.075	B	0.25506	0.061	T	0.82542	-0.0405	10	0.19590	T	0.45	.	18.3161	0.90221	0.0:0.0:1.0:0.0	.	1294	Q9UKX2	MYH2_HUMAN	L	1294	ENSP00000245503:S1294L;ENSP00000380367:S1294L	ENSP00000245503:S1294L	S	-	2	0	MYH2	10371089	0.077000	0.21312	1.000000	0.80357	0.960000	0.62799	1.385000	0.34408	2.538000	0.85594	0.563000	0.77884	TCA		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		22	35	0	0	0	1	0	22	35				
DCDC1	341019	broad.mit.edu	37	11	30928163	30928163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30928163G>A	ENST00000597505.1	-	28	4027	c.4028C>T	c.(4027-4029)cCa>cTa	p.P1343L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P78L|DCDC1_ENST00000339794.5_Missense_Mutation_p.P422L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGAGGAATGGAACCCCTGG	0.463																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(4027-4029)cCa>cTa		doublecortin domain containing 1							135.0	125.0	128.0					11																	30928163		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30928163G>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4028C>T	11.37:g.30928163G>A	ENSP00000472625:p.Pro1343Leu					DCDC1_ENST00000406071.2_Missense_Mutation_p.P78L|DCDC1_ENST00000339794.5_Missense_Mutation_p.P422L	p.P1343L			P59894	DCDC1_HUMAN			28	4027	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.4028C>T		.	.	.	.	.	.	.	.	.	.	G	7.580	0.668521	0.14776	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.86	2.82	0.32997	.	0.684405	0.13775	N	0.363607	T	0.35393	0.0930	M	0.62723	1.935	0.09310	N	1	B	0.24258	0.1	B	0.26864	0.074	T	0.38200	-0.9672	9	0.54805	T	0.06	-0.6175	1.8648	0.03196	0.1759:0.1477:0.5042:0.1723	.	422	Q6ZRR9	DCDC5_HUMAN	L	78;422	.	ENSP00000341700:P422L	P	-	2	0	DCDC5	30884739	0.022000	0.18835	0.780000	0.31762	0.060000	0.15804	1.689000	0.37700	1.498000	0.48600	-0.142000	0.14014	CCA		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		7	29	0	0	0	1	0	7	29				
BCAT1	586	broad.mit.edu	37	12	24995057	24995057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995057C>T	ENST00000261192.7	-	7	1302	c.776G>A	c.(775-777)gGa>gAa	p.G259E	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	ATTCATAGTTCCCACTTCAGT	0.423																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(775-777)gGa>gAa		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						97.0	95.0	96.0					12																	24995057		1912	4134	6046	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995057C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.776G>A	12.37:g.24995057C>T	ENSP00000261192:p.Gly259Glu					BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198E	p.G259E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1302	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		259					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.776G>A	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565005	0.86439	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.48	5.48	0.80851	Aminotransferase, class IV, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	H	0.99719	4.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84898	0.0840	10	0.87932	D	0	-12.4602	19.3713	0.94488	0.0:1.0:0.0:0.0	.	222;271;198;259;258	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	E	259;258;198;271;222	ENSP00000261192:G259E;ENSP00000440817:G258E;ENSP00000339805:G198E;ENSP00000443459:G271E;ENSP00000440827:G222E	ENSP00000261192:G259E	G	-	2	0	BCAT1	24886324	1.000000	0.71417	0.840000	0.33206	0.651000	0.38670	7.420000	0.80191	2.575000	0.86900	0.655000	0.94253	GGA		0.423	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		4	25	0	0	0	1	0	4	25				
FNTA	2339	broad.mit.edu	37	8	42940390	42940390	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42940390A>T	ENST00000302279.3	+	9	1299	c.1105A>T	c.(1105-1107)Aca>Tca	p.T369S	FNTA_ENST00000342116.4_Missense_Mutation_p.T302S|FNTA_ENST00000529687.1_Missense_Mutation_p.T218S	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	369					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAAACACAGCACAGAAAATGA	0.358																																						ENST00000529687.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(652-654)Aca>Tca		farnesyltransferase, CAAX box, alpha							95.0	82.0	86.0					8																	42940390		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42940390A>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.1105A>T	8.37:g.42940390A>T	ENSP00000303423:p.Thr369Ser					FNTA_ENST00000302279.3_Missense_Mutation_p.T369S|FNTA_ENST00000342116.4_Missense_Mutation_p.T302S	p.T218S			P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		9	1540	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	369					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.652A>T	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.930159	0.34096	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.7	4.52	0.55395	.	0.544252	0.20205	N	0.097003	T	0.26412	0.0645	N	0.05510	-0.035	0.33898	D	0.638204	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24728	-1.0152	9	0.25751	T	0.34	-4.9882	10.201	0.43084	0.851:0.0:0.0:0.149	.	302;278;369	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	S	369;302	.	ENSP00000303423:T369S	T	+	1	0	FNTA	43059547	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	2.119000	0.41958	0.957000	0.37930	0.528000	0.53228	ACA		0.358	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027		18	31	0	0	0	1	0	18	31				
IGSF11	152404	broad.mit.edu	37	3	118621622	118621622	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:118621622G>A	ENST00000393775.2	-	7	1346	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	IGSF11_ENST00000491903.1_Silent_p.F319F|IGSF11_ENST00000489689.1_Silent_p.F323F|IGSF11_ENST00000425327.2_Silent_p.F346F|IGSF11_ENST00000441144.2_Silent_p.F322F|IGSF11_ENST00000354673.2_Silent_p.F346F	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	347					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCTGAGTGGAAAGAGAAAG	0.473																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1036-1038)ttC>ttT		immunoglobulin superfamily, member 11							156.0	156.0	156.0					3																	118621622		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621622G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1041C>T	3.37:g.118621622G>A						IGSF11_ENST00000425327.2_Silent_p.F346F|IGSF11_ENST00000393775.2_Silent_p.F347F|IGSF11_ENST00000491903.1_Silent_p.F319F|IGSF11_ENST00000441144.2_Silent_p.F322F|IGSF11_ENST00000489689.1_Silent_p.F323F	p.F346F	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1418	-			347					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1038C>T	CCDS46891.1																																																																																				0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			52	81	0	0	0	1	0	52	81				
LMO7	4008	broad.mit.edu	37	13	76395330	76395330	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:76395330A>C	ENST00000321797.8	+	12	2247	c.1526A>C	c.(1525-1527)aAg>aCg	p.K509T	LMO7_ENST00000465261.2_Missense_Mutation_p.K509T|LMO7_ENST00000526202.1_Missense_Mutation_p.K359T|LMO7_ENST00000357063.3_Missense_Mutation_p.K794T|LMO7_ENST00000377534.3_Missense_Mutation_p.K794T|LMO7_ENST00000341547.4_Missense_Mutation_p.K460T			Q8WWI1	LMO7_HUMAN	LIM domain 7	794					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAAATCAAAAGTCTACAGTT	0.448																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2380-2382)aAg>aCg		LIM domain 7							87.0	78.0	81.0					13																	76395330		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76395330A>C	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1526A>C	13.37:g.76395330A>C	ENSP00000317802:p.Lys509Thr					LMO7_ENST00000341547.4_Missense_Mutation_p.K460T|LMO7_ENST00000465261.2_Missense_Mutation_p.K509T|LMO7_ENST00000321797.8_Missense_Mutation_p.K509T|LMO7_ENST00000526202.1_Missense_Mutation_p.K359T|LMO7_ENST00000377534.3_Missense_Mutation_p.K794T	p.K794T			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	15	3641	+		Breast(118;0.0992)	794					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.2381A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.87|11.87	1.766179|1.766179	0.31228|0.31228	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261;ENST00000525373	.|T;T;T;T;T;T;T;T	.|0.55234	.|1.45;0.53;0.53;0.88;0.53;0.88;0.53;0.97	5.0|5.0	-9.47|-9.47	0.00594|0.00594	.|.	1.727610|1.727610	0.02483|0.02483	N|N	0.088686|0.088686	T|T	0.29882|0.29882	0.0747|0.0747	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.17465	.|0.0;0.0;0.022;0.0;0.004	.|B;B;B;B;B	.|0.15052	.|0.001;0.001;0.01;0.0;0.012	T|T	0.09818|0.09818	-1.0657|-1.0657	6|10	.|0.37606	.|T	.|0.19	1.5861|1.5861	2.6134|2.6134	0.04897|0.04897	0.2344:0.3465:0.0726:0.3465|0.2344:0.3465:0.0726:0.3465	.|.	.|359;460;794;509;742	.|E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.|.;.;LMO7_HUMAN;.;.	N|T	417|460;794;794;408;509;359;509;165	.|ENSP00000342112:K460T;ENSP00000349571:K794T;ENSP00000366757:K794T;ENSP00000366719:K408T;ENSP00000317802:K509T;ENSP00000431129:K359T;ENSP00000433352:K509T;ENSP00000431896:K165T	.|ENSP00000317802:K509T	K|K	+|+	3|2	2|0	LMO7|LMO7	75293331|75293331	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.024000|0.024000	0.10985|0.10985	-1.148000|-1.148000	0.03185|0.03185	-1.365000|-1.365000	0.02158|0.02158	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		24	29	0	0	0	1	0	24	29				
MCM3AP	8888	broad.mit.edu	37	21	47678977	47678977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47678977G>A	ENST00000397708.1	-	17	3864	c.3610C>T	c.(3610-3612)Cgt>Tgt	p.R1204C	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1204C			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1204	CID.				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)					CGGGCCACACGGACCCTCTGG	0.537																																						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.(3610-3612)Cgt>Tgt		minichromosome maintenance complex component 3 associated protein							115.0	106.0	109.0					21																	47678977		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47678977G>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.3610C>T	21.37:g.47678977G>A	ENSP00000380820:p.Arg1204Cys					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1204C|MCM3AP_ENST00000467026.1_5'UTR	p.R1204C			O60318	MCM3A_HUMAN			17	3864	-	Breast(49;0.112)		1204					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3610C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885084	0.33255	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	D;D	0.84730	-1.89;-1.89	5.13	4.04	0.47022	.	0.266890	0.44483	D	0.000456	T	0.73233	0.3561	N	0.19112	0.55	0.52501	D	0.999954	B	0.33777	0.425	B	0.24269	0.052	T	0.76586	-0.2905	10	0.54805	T	0.06	-15.3065	14.4932	0.67665	0.0841:0.0:0.9159:0.0	.	1204	O60318	MCM3A_HUMAN	C	1204	ENSP00000380820:R1204C;ENSP00000291688:R1204C	ENSP00000291688:R1204C	R	-	1	0	MCM3AP	46503405	0.998000	0.40836	0.359000	0.25824	0.404000	0.30871	3.495000	0.53280	2.392000	0.81423	0.591000	0.81541	CGT		0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		5	85	0	0	0	1	0	5	85				
UNC79	57578	broad.mit.edu	37	14	94044271	94044271	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94044271G>A	ENST00000393151.2	+	18	2295	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	UNC79_ENST00000553484.1_Silent_p.R765R|UNC79_ENST00000256339.4_Silent_p.R588R|UNC79_ENST00000555664.1_Silent_p.R765R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	765					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCCGTTTCGGAGTCCTTTGC	0.448																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2293-2295)cgG>cgA		unc-79 homolog (C. elegans)							251.0	229.0	237.0					14																	94044271		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94044271G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2295G>A	14.37:g.94044271G>A						UNC79_ENST00000256339.4_Silent_p.R588R|UNC79_ENST00000555664.1_Silent_p.R765R|UNC79_ENST00000393151.2_Silent_p.R765R	p.R765R			Q9P2D8	UNC79_HUMAN			18	2449	+			765					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.2295G>A																																																																																					0.448	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		55	124	0	0	0	1	0	55	124				
DEDD2	162989	broad.mit.edu	37	19	42713945	42713945	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42713945C>A	ENST00000595337.1	-	4	583	c.496G>T	c.(496-498)Ggt>Tgt	p.G166C	DEDD2_ENST00000598727.1_Missense_Mutation_p.G166C|DEDD2_ENST00000596251.1_Missense_Mutation_p.G166C|DEDD2_ENST00000336034.4_Missense_Mutation_p.G161C|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	166					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CTGGCACCACCACTGGGCCGG	0.667																																						ENST00000595337.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5						c.(496-498)Ggt>Tgt		death effector domain containing 2							21.0	24.0	23.0					19																	42713945		2180	4247	6427	SO:0001583	missense	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42713945C>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.496G>T	19.37:g.42713945C>A	ENSP00000470082:p.Gly166Cys					DEDD2_ENST00000336034.4_Missense_Mutation_p.G161C|DEDD2_ENST00000598727.1_Missense_Mutation_p.G166C|DEDD2_ENST00000596251.1_Missense_Mutation_p.G166C|DEDD2_ENST00000593804.1_5'UTR	p.G166C	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN			4	583	-		Prostate(69;0.0704)	166					Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	ENST00000595337.1	37	c.496G>T	CCDS12597.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568648	0.45798	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	1.67	0.24075	.	0.391710	0.27231	N	0.020301	T	0.22936	0.0554	N	0.08118	0	0.28001	N	0.935264	B;B	0.34241	0.444;0.316	B;B	0.43809	0.432;0.249	T	0.16188	-1.0411	9	0.41790	T	0.15	-3.9022	7.6217	0.28189	0.0:0.7881:0.0:0.2119	.	161;166	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	C	166	.	ENSP00000336972:G166C	G	-	1	0	DEDD2	47405785	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.002000	0.29796	0.585000	0.29608	0.467000	0.42956	GGT		0.667	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		29	51	1	0	2.65835e-16	1	2.70449e-16	29	51				
PCYT1A	5130	broad.mit.edu	37	3	195997311	195997311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195997311G>A	ENST00000292823.2	-	3	264	c.92C>T	c.(91-93)cCt>cTt	p.P31L	PCYT1A_ENST00000431016.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Missense_Mutation_p.P31L|RP11-447L10.1_ENST00000431391.1_3'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	31					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	CACTTTGGAAGGAACCCCATC	0.498																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(91-93)cCt>cTt		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						299.0	291.0	294.0					3																	195997311		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195997311G>A	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.92C>T	3.37:g.195997311G>A	ENSP00000292823:p.Pro31Leu					PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000419333.1_Missense_Mutation_p.P31L	p.P31L	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	3	264	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		31					A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.92C>T	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433868	0.43224	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000431016;ENST00000411591;ENST00000412869;ENST00000443555	.	.	.	6.03	4.0	0.46444	.	0.416015	0.27388	N	0.019584	T	0.37705	0.1013	L	0.50333	1.59	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.17930	-1.0353	9	0.52906	T	0.07	-15.2402	6.2776	0.20989	0.0991:0.1893:0.7116:0.0	.	31	P49585	PCY1A_HUMAN	L	31	.	ENSP00000292823:P31L	P	-	2	0	PCYT1A	197481708	0.933000	0.31639	0.960000	0.40013	0.858000	0.48976	2.442000	0.44873	2.861000	0.98227	0.655000	0.94253	CCT		0.498	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		101	196	0	0	0	1	0	101	196				
KIAA0319L	79932	broad.mit.edu	37	1	35944661	35944661	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:35944661G>A	ENST00000325722.3	-	4	1053	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	273						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAATCTGGGTTTTCTCAG	0.527																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(817-819)acC>acT		KIAA0319-like							97.0	96.0	96.0					1																	35944661		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35944661G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.819C>T	1.37:g.35944661G>A							p.T273T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			4	1053	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	273					B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.819C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	0.083	-1.180514	0.01633	.	.	ENSG00000142687	ENST00000431916	.	.	.	5.65	-0.323	0.12709	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.22982	N	0.998471	.	.	.	.	.	.	T	0.28138	-1.0053	4	.	.	.	0.2829	5.4863	0.16751	0.2782:0.2976:0.4242:0.0	.	.	.	.	S	137	.	.	P	-	1	0	KIAA0319L	35717248	0.020000	0.18652	0.002000	0.10522	0.152000	0.21847	-0.020000	0.12525	0.030000	0.15379	-0.909000	0.02823	CCA		0.527	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		28	26	0	0	0	1	0	28	26				
SEC14L1	6397	broad.mit.edu	37	17	75199690	75199690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:75199690G>A	ENST00000413679.2	+	10	1351	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	SEC14L1_ENST00000392476.2_Missense_Mutation_p.D350N|SEC14L1_ENST00000430767.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.D350N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.D316N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.D316N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.D350N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	350	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGGGCAGATGGACACCAAAGG	0.582																																						ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1048-1050)Gac>Aac		SEC14-like 1 (S. cerevisiae)							50.0	43.0	45.0					17																	75199690		2203	4300	6503	SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75199690G>A	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1048G>A	17.37:g.75199690G>A	ENSP00000394716:p.Asp350Asn					SEC14L1_ENST00000430767.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.D350N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.D316N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.D350N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.D316N	p.D350N	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			10	1351	+			350			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	c.1048G>A	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	36	5.633845	0.96682	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.08	5.08	0.68730	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.988;0.994	D	0.90548	0.4507	10	0.87932	D	0	-45.7393	17.8497	0.88742	0.0:0.0:1.0:0.0	.	350;350	Q92503-2;Q92503	.;S14L1_HUMAN	N	350;350;350;350;350;316	ENSP00000376268:D350N;ENSP00000406030:D350N;ENSP00000390392:D350N;ENSP00000408169:D350N;ENSP00000394716:D350N;ENSP00000389838:D316N	ENSP00000376268:D350N	D	+	1	0	SEC14L1	72711285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.355000	0.97087	2.518000	0.84900	0.563000	0.77884	GAC		0.582	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		6	15	0	0	0	1	0	6	15				
PLB1	151056	broad.mit.edu	37	2	28826894	28826894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28826894G>A	ENST00000327757.5	+	40	2880	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000422425.2_Missense_Mutation_p.A935T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	946	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCTGGAGGCCTTCAGCCG	0.607																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2803-2805)Gcc>Acc		phospholipase B1							63.0	57.0	59.0					2																	28826894		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28826894G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2836G>A	2.37:g.28826894G>A	ENSP00000330442:p.Ala946Thr					PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.A946T	p.A935T	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			39	2847	+	Acute lymphoblastic leukemia(172;0.155)		946			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2803G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	7.254	0.603912	0.14002	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.13901	2.55;2.55	5.43	1.51	0.23008	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.647030	0.14466	N	0.317869	T	0.10766	0.0263	L	0.43923	1.385	0.09310	N	1	B;B	0.25667	0.063;0.131	B;B	0.22152	0.023;0.038	T	0.37103	-0.9720	10	0.19147	T	0.46	-8.1569	8.7837	0.34807	0.0733:0.0:0.5539:0.3729	.	935;946	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	T	946;935	ENSP00000330442:A946T;ENSP00000416440:A935T	ENSP00000330442:A946T	A	+	1	0	PLB1	28680398	0.458000	0.25760	0.002000	0.10522	0.665000	0.39181	0.842000	0.27627	-0.135000	0.11495	-1.367000	0.01198	GCC		0.607	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			26	35	0	0	0	1	0	26	35				
THOC2	57187	broad.mit.edu	37	X	122755258	122755258	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:122755258C>T	ENST00000245838.8	-	31	3997	c.3966G>A	c.(3964-3966)ccG>ccA	p.P1322P	THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Silent_p.P1207P|THOC2_ENST00000355725.4_Silent_p.P1322P	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1322	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGTCAGACTTCGGCGTTCTTT	0.403																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3964-3966)ccG>ccA		THO complex 2							257.0	230.0	238.0					X																	122755258		1844	4078	5922	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755258C>T	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3966G>A	X.37:g.122755258C>T						THOC2_ENST00000491737.1_Silent_p.P1207P|THOC2_ENST00000355725.4_Silent_p.P1322P	p.P1322P	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			31	3997	-			1322			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.3966G>A	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	0.140	-1.102968	0.01828	.	.	ENSG00000125676	ENST00000441692	.	.	.	5.32	-8.32	0.00996	.	.	.	.	.	T	0.35566	0.0936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44236	-0.9341	4	.	.	.	-8.6007	2.9742	0.05932	0.1008:0.1666:0.2743:0.4583	.	.	.	.	Q	90	.	.	R	-	2	0	THOC2	122582939	0.938000	0.31826	0.829000	0.32907	0.710000	0.40934	-0.137000	0.10389	-1.102000	0.03023	-2.684000	0.00141	CGA		0.403	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			64	85	0	0	0	1	0	64	85				
RPTOR	57521	broad.mit.edu	37	17	78899198	78899198	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899198G>A	ENST00000306801.3	+	24	3199	c.2837G>A	c.(2836-2838)gGa>gAa	p.G946E	RPTOR_ENST00000544334.2_Missense_Mutation_p.G788E|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GATGCTGCTGGACACAAAAGT	0.582																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2836-2838)gGa>gAa		regulatory associated protein of MTOR, complex 1							65.0	60.0	62.0					17																	78899198		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78899198G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2837G>A	17.37:g.78899198G>A	ENSP00000307272:p.Gly946Glu					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788E	p.G946E	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			24	3199	+			946					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2837G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	1.738	-0.492535	0.04322	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44083	0.95;0.93	4.29	4.29	0.51040	.	0.069415	0.56097	D	0.000026	T	0.31575	0.0801	L	0.36672	1.1	0.80722	D	1	P;B	0.45176	0.852;0.039	B;B	0.43783	0.431;0.016	T	0.10405	-1.0631	10	0.05959	T	0.93	.	12.2583	0.54636	0.0:0.0:0.83:0.17	.	788;946	F5H7J5;Q8N122	.;RPTOR_HUMAN	E	946;788	ENSP00000307272:G946E;ENSP00000442479:G788E	ENSP00000307272:G946E	G	+	2	0	RPTOR	76513793	1.000000	0.71417	0.613000	0.29037	0.282000	0.26991	3.263000	0.51546	2.095000	0.63458	0.655000	0.94253	GGA		0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		18	32	0	0	0	1	0	18	32				
ZNF770	54989	broad.mit.edu	37	15	35274541	35274541	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:35274541G>A	ENST00000356321.4	-	3	1439	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	365					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATTTCTCAAGAAACTCTTTT	0.328																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(1093-1095)ttC>ttT		zinc finger protein 770							26.0	28.0	27.0					15																	35274541		2193	4291	6484	SO:0001819	synonymous_variant	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274541G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1095C>T	15.37:g.35274541G>A							p.F365F	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1439	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	365					Q6ZMZ6|Q9NWV2	Silent	SNP	ENST00000356321.4	37	c.1095C>T	CCDS10042.1																																																																																				0.328	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		6	17	0	0	0	1	0	6	17				
LRRC37A6P	387646	broad.mit.edu	37	10	27535443	27535443	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:27535443C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GACTTCTGCTCTTTCTGTTCA	0.423																																						ENST00000574842.1																			0																																																			387646							g.chr10:27535443C>T																													10.37:g.27535443C>T														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.423	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			34	44	0	0	0	1	0	34	44				
RHBDD2	57414	broad.mit.edu	37	7	75513015	75513015	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75513015G>A	ENST00000006777.6	+	3	721		c.e3-1		RHBDD2_ENST00000428119.1_Splice_Site|RHBDD2_ENST00000318622.4_Splice_Site|RHBDD2_ENST00000468304.1_Intron	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						GCCAACCTCAGATGGCCTCAC	0.557																																						ENST00000318622.4																			0				kidney(1)|lung(4)|prostate(1)	6						c.e4-1		rhomboid domain containing 2							121.0	121.0	121.0					7																	75513015		2093	4207	6300	SO:0001630	splice_region_variant	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75513015G>A	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.587-1G>A	7.37:g.75513015G>A						RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Splice_Site|RHBDD2_ENST00000006777.6_Splice_Site		NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN			4	792	+								Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Splice_Site	SNP	ENST00000006777.6	37		CCDS43602.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773100	0.31411	.	.	ENSG00000005486	ENST00000006777;ENST00000413229;ENST00000318622;ENST00000428119	.	.	.	5.57	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.912	0.70764	0.0:0.0:0.8556:0.1444	.	.	.	.	.	-1	.	.	.	+	.	.	RHBDD2	75350951	1.000000	0.71417	0.994000	0.49952	0.399000	0.30720	6.078000	0.71282	1.341000	0.45600	-0.187000	0.12897	.		0.557	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	Intron	101	72	0	0	0	1	0	101	72				
WDR11	55717	broad.mit.edu	37	10	122630711	122630711	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:122630711C>T	ENST00000263461.6	+	10	1570	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					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)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAACATCCCAGAGGTTC	0.423																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1324-1326)Ccc>Tcc		WD repeat domain 11							81.0	75.0	77.0					10																	122630711		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122630711C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1324C>T	10.37:g.122630711C>T	ENSP00000263461:p.Pro442Ser						p.P442S	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			10	1570	+			442					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.1324C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	0.538	-0.854693	0.02630	.	.	ENSG00000120008	ENST00000263461	D	0.90676	-2.71	5.38	4.47	0.54385	.	0.267837	0.39985	N	0.001216	T	0.79587	0.4471	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62320	-0.6879	10	0.19147	T	0.46	-19.3891	8.8906	0.35432	0.0:0.8423:0.0:0.1577	.	442	Q9BZH6	WDR11_HUMAN	S	442	ENSP00000263461:P442S	ENSP00000263461:P442S	P	+	1	0	WDR11	122620701	0.375000	0.25089	0.995000	0.50966	0.380000	0.30137	1.940000	0.40223	2.520000	0.84964	0.585000	0.79938	CCC		0.423	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			18	22	0	0	0	1	0	18	22				
C4orf29	80167	broad.mit.edu	37	4	128951758	128951758	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128951758C>T	ENST00000444616.1	+	11	1419	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	C4orf29_ENST00000398965.1_Missense_Mutation_p.P391L|C4orf29_ENST00000388795.5_Missense_Mutation_p.P343L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	391						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GAAATTTGGCCTGGTTGTGAA	0.408																																						ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(1027-1029)cCt>cTt		chromosome 4 open reading frame 29							91.0	90.0	90.0					4																	128951758		1838	4087	5925	SO:0001583	missense	80167					extracellular region		g.chr4:128951758C>T	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.1172C>T	4.37:g.128951758C>T	ENSP00000397229:p.Pro391Leu					C4orf29_ENST00000444616.1_Missense_Mutation_p.P391L|C4orf29_ENST00000398965.1_Missense_Mutation_p.P391L	p.P343L			Q0P651	CD029_HUMAN			12	1431	+			391					A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	30	5.056950	0.93846	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.84110	0.5400	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87105	0.2181	9	0.87932	D	0	-0.5168	18.3204	0.90236	0.0:1.0:0.0:0.0	.	343;391	B7WP89;Q0P651	.;CD029_HUMAN	L	391;222;391;391;343;309;298	.	ENSP00000373447:P343L	P	+	2	0	C4orf29	129171208	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.265000	0.78442	2.342000	0.79632	0.655000	0.94253	CCT		0.408	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		8	41	0	0	0	1	0	8	41				
GUCY2D	3000	broad.mit.edu	37	17	7907313	7907313	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907313C>T	ENST00000254854.4	+	3	1015	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GTCCCCAGGCCCGGAGGCCTT	0.682																																						ENST00000254854.4																			0				skin(1)	1						c.(865-867)Ccg>Tcg		guanylate cyclase 2D, membrane (retina-specific)							100.0	101.0	101.0					17																	7907313		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907313C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.865C>T	17.37:g.7907313C>T	ENSP00000254854:p.Pro289Ser						p.P289S	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			3	1015	+		Prostate(122;0.157)	289					Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.865C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043758	0.36085	.	.	ENSG00000132518	ENST00000254854	T	0.73575	-0.76	4.53	4.53	0.55603	Extracellular ligand-binding receptor (1);	0.303106	0.23999	N	0.042493	T	0.64929	0.2643	L	0.51422	1.61	0.18873	N	0.999988	B	0.16603	0.018	B	0.23275	0.045	T	0.48559	-0.9025	10	0.19590	T	0.45	.	8.4046	0.32608	0.0:0.8964:0.0:0.1036	.	289	Q02846	GUC2D_HUMAN	S	289	ENSP00000254854:P289S	ENSP00000254854:P289S	P	+	1	0	GUCY2D	7848038	0.000000	0.05858	0.936000	0.37596	0.838000	0.47535	0.542000	0.23222	2.363000	0.80096	0.561000	0.74099	CCG		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			89	29	0	0	0	1	0	89	29				
PSMD12	5718	broad.mit.edu	37	17	65346399	65346399	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65346399G>A	ENST00000356126.3	-	4	458	c.351C>T	c.(349-351)gaC>gaT	p.D117D	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.D97D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TGATAGGAAGGTCTGTGATTT	0.333																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(349-351)gaC>gaT		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							92.0	86.0	88.0					17																	65346399		2203	4300	6503	SO:0001819	synonymous_variant	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65346399G>A	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.351C>T	17.37:g.65346399G>A						PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.D97D	p.D117D	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			4	458	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		117					A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	37	c.351C>T	CCDS11669.1																																																																																				0.333	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		13	24	0	0	0	1	0	13	24				
TERF1	7013	broad.mit.edu	37	8	73958353	73958353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73958353C>T	ENST00000276603.5	+	10	1324	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	TERF1_ENST00000276602.6_Missense_Mutation_p.S414F|RP11-531A24.7_ENST00000607665.1_RNA	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	434					age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AAACTGATTTCCTCAGACAGC	0.353																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1240-1242)tCc>tTc		telomeric repeat binding factor (NIMA-interacting) 1							69.0	67.0	68.0					8																	73958353		2202	4297	6499	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73958353C>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1301C>T	8.37:g.73958353C>T	ENSP00000276603:p.Ser434Phe					TERF1_ENST00000276603.5_Missense_Mutation_p.S434F	p.S414F	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		9	1264	+	Breast(64;0.218)		434			HTH myb-type.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.1241C>T	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467315	0.84533	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	.	.	.	5.52	1.42	0.22433	Homeodomain-like (1);	0.486738	0.21703	N	0.070381	T	0.33760	0.0874	L	0.53249	1.67	0.09310	N	1	P;B	0.42337	0.776;0.162	P;B	0.46758	0.526;0.121	T	0.20107	-1.0285	9	0.59425	D	0.04	.	2.3792	0.04349	0.2244:0.3972:0.2541:0.1244	.	414;434	P54274-2;P54274	.;TERF1_HUMAN	F	434;414	.	ENSP00000276602:S414F	S	+	2	0	TERF1	74120907	0.000000	0.05858	0.304000	0.25085	0.927000	0.56198	-0.433000	0.06948	0.290000	0.22444	-0.224000	0.12420	TCC		0.353	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		17	45	0	0	0	1	0	17	45				
STK36	27148	broad.mit.edu	37	2	219563390	219563390	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563390C>T	ENST00000295709.3	+	26	3402	c.3123C>T	c.(3121-3123)gcC>gcT	p.A1041A	STK36_ENST00000440309.1_Silent_p.A1041A|STK36_ENST00000392106.2_Silent_p.A1020A|STK36_ENST00000392105.3_Silent_p.A1020A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CACGCCTGGCCCTCATGGATC	0.547																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(3121-3123)gcC>gcT		serine/threonine kinase 36							222.0	192.0	202.0					2																	219563390		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563390C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3123C>T	2.37:g.219563390C>T						STK36_ENST00000392105.3_Silent_p.A1020A|STK36_ENST00000392106.2_Silent_p.A1020A|STK36_ENST00000440309.1_Silent_p.A1041A	p.A1041A	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3402	+		Renal(207;0.0915)	1041						Silent	SNP	ENST00000295709.3	37	c.3123C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	1.904	-0.452407	0.04540	.	.	ENSG00000163482	ENST00000431040	.	.	.	6.06	2.29	0.28610	.	.	.	.	.	T	0.56702	0.2003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47195	-0.9136	4	.	.	.	-17.2659	7.867	0.29543	0.0:0.4991:0.2565:0.2444	.	.	.	.	L	234	.	.	P	+	2	0	STK36	219271634	0.592000	0.26832	0.994000	0.49952	0.279000	0.26890	-0.553000	0.06012	0.166000	0.19597	-0.795000	0.03280	CCC		0.547	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			84	33	0	0	0	1	0	84	33				
PNN	5411	broad.mit.edu	37	14	39647066	39647066	+	Missense_Mutation	SNP	G	G	T	rs1138657		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:39647066G>T	ENST00000216832.4	+	6	511	c.444G>T	c.(442-444)ttG>ttT	p.L148F	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Missense_Mutation_p.V117F	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	148	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATTTGGCTTGTTGATGGGTA	0.318																																						ENST00000216832.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(442-444)ttG>ttT		pinin, desmosome associated protein							240.0	266.0	257.0					14																	39647066		2203	4300	6503	SO:0001583	missense	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39647066G>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.444G>T	14.37:g.39647066G>T	ENSP00000216832:p.Leu148Phe					PNN_ENST00000553331.1_Missense_Mutation_p.V117F	p.L148F	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	6	511	+	Hepatocellular(127;0.213)		148			Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	ENST00000216832.4	37	c.444G>T	CCDS9671.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.05|15.05	2.719645|2.719645	0.48728|0.48728	.|.	.|.	ENSG00000100941|ENSG00000100941	ENST00000216832|ENST00000553331	T|.	0.37235|.	1.21|.	5.58|5.58	4.69|4.69	0.59074|0.59074	Pinin/SDK/MemA protein (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71290|0.71290	0.3322|0.3322	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|T	0.71384|0.71384	-0.4609|-0.4609	10|5	0.32370|.	T|.	0.25|.	-3.2962|-3.2962	14.3591|14.3591	0.66757|0.66757	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	148|.	Q9H307|.	PININ_HUMAN|.	F|F	148|117	ENSP00000216832:L148F|.	ENSP00000216832:L148F|.	L|V	+|+	3|1	2|0	PNN|PNN	38716817|38716817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.832000|7.832000	0.86757|0.86757	1.495000|1.495000	0.48549|0.48549	0.655000|0.655000	0.94253|0.94253	TTG|GTT		0.318	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		113	195	1	0	2.68169e-52	1	2.74748e-52	113	195				
COL9A3	1299	broad.mit.edu	37	20	61468563	61468563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61468563G>A	ENST00000343916.3	+	30	1735	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	578	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TGGCGCTCGAGGACCCCCTGG	0.677																																						ENST00000343916.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1732-1734)Gga>Aga		collagen, type IX, alpha 3							31.0	42.0	38.0					20																	61468563		2199	4296	6495	SO:0001583	missense	1299				axon guidance	collagen type IX		g.chr20:61468563G>A	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1732G>A	20.37:g.61468563G>A	ENSP00000341640:p.Gly578Arg					COL9A3_ENST00000462700.1_3'UTR	p.G578R	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN			30	1735	+	Breast(26;5.68e-08)		578			Triple-helical region 2 (COL2).		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	ENST00000343916.3	37	c.1732G>A	CCDS13505.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487323	0.84854	.	.	ENSG00000092758	ENST00000343916	D	0.99186	-5.53	4.8	3.81	0.43845	.	0.052779	0.85682	N	0.000000	D	0.99560	0.9842	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.97110	1.0;0.873	D	0.97959	1.0336	10	0.87932	D	0	.	14.6995	0.69147	0.0:0.1461:0.8539:0.0	.	81;578	Q9BT15;Q14050	.;CO9A3_HUMAN	R	578	ENSP00000341640:G578R	ENSP00000341640:G578R	G	+	1	0	COL9A3	60939008	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.456000	0.80751	0.951000	0.37770	0.561000	0.74099	GGA		0.677	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2	NM_001853		33	56	0	0	0	1	0	33	56				
MACC1	346389	broad.mit.edu	37	7	20198464	20198464	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:20198464G>T	ENST00000400331.5	-	5	1828	c.1520C>A	c.(1519-1521)cCa>cAa	p.P507Q	MACC1_ENST00000332878.4_Missense_Mutation_p.P507Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P507Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	507					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTTTGGGGTTGGATCAGGAGT	0.413																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1519-1521)cCa>cAa		metastasis associated in colon cancer 1							94.0	100.0	98.0					7																	20198464		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198464G>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1520C>A	7.37:g.20198464G>T	ENSP00000383185:p.Pro507Gln					MACC1_ENST00000332878.4_Missense_Mutation_p.P507Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P507Q	p.P507Q	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1828	-			507					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1520C>A	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761882	0.31228	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.11712	2.75;2.75	5.93	5.05	0.67936	.	0.205849	0.52532	D	0.000079	T	0.22475	0.0542	M	0.80746	2.51	0.39801	D	0.972561	D	0.56035	0.974	P	0.49752	0.621	T	0.04693	-1.0933	10	0.72032	D	0.01	-8.7106	10.0469	0.42192	0.0687:0.0:0.7947:0.1366	.	507	Q6ZN28	MACC1_HUMAN	Q	507	ENSP00000383185:P507Q;ENSP00000328410:P507Q	ENSP00000328410:P507Q	P	-	2	0	MACC1	20164989	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	4.163000	0.58183	1.513000	0.48852	0.655000	0.94253	CCA		0.413	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		42	84	1	0	3.77016e-25	1	3.85438e-25	42	84				
KIF1A	547	broad.mit.edu	37	2	241710442	241710442	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241710442G>A	ENST00000320389.7	-	14	1418	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	KIF1A_ENST00000498729.2_Silent_p.L429L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	420					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGCGCTCGTGGAGGCTGGACA	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1285-1287)ctC>ctT		kinesin family member 1A							44.0	56.0	52.0					2																	241710442		2090	4247	6337	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241710442G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1260C>T	2.37:g.241710442G>A						KIF1A_ENST00000320389.7_Silent_p.L420L	p.L429L	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	15	1533	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	420					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.1287C>T	CCDS46561.1																																																																																				0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		26	13	0	0	0	1	0	26	13				
PHLPP2	23035	broad.mit.edu	37	16	71736621	71736621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:71736621T>C	ENST00000568954.1	-	3	676	c.298A>G	c.(298-300)Act>Gct	p.T100A	PHLPP2_ENST00000360429.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000393524.2_Missense_Mutation_p.T100A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T135A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	100					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)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTCGTTCAGTAGGTTCCAGT	0.343																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(298-300)Act>Gct		PH domain and leucine rich repeat protein phosphatase 2							68.0	60.0	62.0					16																	71736621		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71736621T>C	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.298A>G	16.37:g.71736621T>C	ENSP00000457991:p.Thr100Ala					PHLPP2_ENST00000567016.1_Missense_Mutation_p.T135A|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T100A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T100A	p.T100A			Q6ZVD8	PHLP2_HUMAN			2	1031	-			100					A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.298A>G	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	T	6.757	0.508594	0.12883	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.28666	1.6;1.6;1.6	5.46	3.18	0.36537	.	0.395601	0.29846	N	0.011057	T	0.17746	0.0426	L	0.40543	1.245	0.22127	N	0.999348	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.30446	-0.9978	10	0.08837	T	0.75	-3.8552	3.273	0.06888	0.137:0.0752:0.1428:0.645	.	100;100	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	A	100	ENSP00000353610:T100A;ENSP00000348611:T100A;ENSP00000377159:T100A	ENSP00000348611:T100A	T	-	1	0	PHLPP2	70294122	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	0.722000	0.25925	0.429000	0.26202	0.454000	0.30748	ACT		0.343	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		23	46	0	0	0	1	0	23	46				
MUC5AC	4586	broad.mit.edu	37	11	1157576	1157576	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1157576C>T	ENST00000356191.2	+	12	747	c.747C>T	c.(745-747)tcC>tcT	p.S249S				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	252	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGACCCTGTCCCTGAACCCCC	0.622																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(745-747)tcC>tcT		mucin 5AC, oligomeric mucus/gel-forming							21.0	21.0	21.0					11																	1157576		872	1986	2858	SO:0001819	synonymous_variant	4586							g.chr11:1157576C>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.747C>T	11.37:g.1157576C>T							p.S249S						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	12	747	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.747C>T		.	.	.	.	.	.	.	.	.	.	c	7.537	0.659865	0.14645	.	.	ENSG00000215182	ENST00000534821	T	0.19532	2.14	3.01	2.08	0.27032	.	.	.	.	.	T	0.24275	0.0588	L	0.59967	1.855	.	.	.	P	0.51791	0.948	P	0.46975	0.533	T	0.32214	-0.9915	7	.	.	.	.	8.1662	0.31228	0.0:0.883:0.0:0.117	.	253	A7Y9J9	.	S	253	ENSP00000435591:P253S	.	P	+	1	0	MUC5AC	1147576	0.049000	0.20398	0.005000	0.12908	0.113000	0.19764	1.743000	0.38258	0.602000	0.29896	0.290000	0.19541	CCT		0.622	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		11	17	0	0	0	1	0	11	17				
EPHA10	284656	broad.mit.edu	37	1	38227500	38227500	+	Missense_Mutation	SNP	G	G	A	rs45567442	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227500G>A	ENST00000373048.4	-	3	426	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCTAGGCGGGGACGCCCA	0.657																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(427-429)Cgc>Tgc		EPH receptor A10		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	35.0	41.0	39.0		427,427	2.7	0.3	1	dbSNP_127	39	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	EPHA10	NM_001099439.1,NM_173641.2	180,180	0,6,6496	AA,AG,GG		0.0582,0.0227,0.0461	probably-damaging,probably-damaging	143/1009,143/296	38227500	6,12998	2203	4299	6502	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227500G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.427C>T	1.37:g.38227500G>A	ENSP00000362139:p.Arg143Cys					EPHA10_ENST00000427468.2_Missense_Mutation_p.R143C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143C	p.R143C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	426	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	143					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.427C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181484	0.38511	2.27E-4	5.82E-4	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03745	3.82;3.82;3.82	4.75	2.66	0.31614	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.179045	0.27437	N	0.019363	T	0.05044	0.0135	N	0.14661	0.345	0.80722	D	1	D;P	0.69078	0.997;0.515	P;B	0.58266	0.836;0.182	T	0.51180	-0.8738	10	0.54805	T	0.06	.	7.7623	0.28959	0.0:0.3334:0.4949:0.1717	rs45567442	143;143	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	143	ENSP00000397746:R143C;ENSP00000362139:R143C;ENSP00000316395:R143C	ENSP00000316395:R143C	R	-	1	0	EPHA10	38000087	0.003000	0.15002	0.285000	0.24819	0.966000	0.64601	1.207000	0.32333	1.284000	0.44531	0.643000	0.83706	CGC		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		18	57	0	0	0	1	0	18	57				
SLITRK6	84189	broad.mit.edu	37	13	86370632	86370632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86370632C>T	ENST00000400286.2	-	2	610	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	4					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAGATGAATCCACAGCTTCA	0.423																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10-12)tgG>tgA		SLIT and NTRK-like family, member 6							49.0	46.0	47.0					13																	86370632		1894	4106	6000	SO:0001587	stop_gained	84189					integral to membrane		g.chr13:86370632C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.12G>A	13.37:g.86370632C>T	ENSP00000383143:p.Trp4*						p.W4*	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	610	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		4					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	c.12G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	41	8.974957	0.99023	.	.	ENSG00000184564	ENST00000400286	.	.	.	6.17	6.17	0.99709	.	0.494910	0.23859	N	0.043861	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0E-4	14.2995	0.66336	0.1485:0.8515:0.0:0.0	.	.	.	.	X	4	.	ENSP00000383143:W4X	W	-	3	0	SLITRK6	85268633	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.555000	0.45854	2.941000	0.99782	0.655000	0.94253	TGG		0.423	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		18	34	0	0	0	1	0	18	34				
ANKRD53	79998	broad.mit.edu	37	2	71206395	71206395	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71206395C>T	ENST00000360589.3	+	2	373	c.339C>T	c.(337-339)ttC>ttT	p.F113F	ANKRD53_ENST00000272421.6_Silent_p.F113F|ANKRD53_ENST00000441349.1_Silent_p.F79F|ANKRD53_ENST00000457410.1_Silent_p.F79F|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	113										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						ACCAGCTGTTCGCAGCGGCTG	0.637																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(337-339)ttC>ttT		ankyrin repeat domain 53							67.0	68.0	67.0					2																	71206395		2202	4300	6502	SO:0001819	synonymous_variant	79998							g.chr2:71206395C>T	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.339C>T	2.37:g.71206395C>T						ANKRD53_ENST00000441349.1_Silent_p.F79F|ANKRD53_ENST00000360589.3_Silent_p.F113F|ANKRD53_ENST00000457410.1_Silent_p.F79F|AC007040.11_ENST00000606025.1_Intron	p.F113F	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	605	+			113					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.339C>T	CCDS46321.1																																																																																				0.637	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		53	68	0	0	0	1	0	53	68				
PCYOX1L	78991	broad.mit.edu	37	5	148747966	148747966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148747966C>T	ENST00000274569.4	+	6	1296	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PCYOX1L_ENST00000514349.1_Missense_Mutation_p.R322C	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	412					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCTGTTCCGTTCCTATTA	0.607																																					Ovarian(62;1136 1477 27277 27495)	ENST00000514349.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(964-966)Cgt>Tgt		prenylcysteine oxidase 1 like							82.0	86.0	85.0					5																	148747966		2203	4300	6503	SO:0001583	missense	78991				prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	g.chr5:148747966C>T		CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1234C>T	5.37:g.148747966C>T	ENSP00000274569:p.Arg412Cys					PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R412C	p.R322C			Q8NBM8	PCYXL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1543	+			412					Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Missense_Mutation	SNP	ENST00000274569.4	37	c.964C>T	CCDS4296.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231999	0.58777	.	.	ENSG00000145882	ENST00000274569;ENST00000514349	T;T	0.15017	2.46;2.46	5.51	5.51	0.81932	Prenylcysteine lyase (1);	0.105164	0.64402	D	0.000009	T	0.33702	0.0872	L	0.51422	1.61	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.65773	0.938;0.862;0.917	T	0.01316	-1.1387	10	0.56958	D	0.05	-8.7089	13.4547	0.61191	0.2622:0.7378:0.0:0.0	.	294;322;412	B3KXF9;E7EVZ5;Q8NBM8	.;.;PCYXL_HUMAN	C	412;322	ENSP00000274569:R412C;ENSP00000428512:R322C	ENSP00000274569:R412C	R	+	1	0	PCYOX1L	148728159	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.878000	0.28126	2.577000	0.86979	0.561000	0.74099	CGT		0.607	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252331.2	NM_024028		54	82	0	0	0	1	0	54	82				
ATP7A	538	broad.mit.edu	37	X	77258710	77258710	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77258710G>A	ENST00000341514.6	+	6	1839	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.G562R	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	562					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCTGATGAAGGAGATGGTGT	0.368																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(1684-1686)Gga>Aga		ATPase, Cu++ transporting, alpha polypeptide							188.0	175.0	179.0					X																	77258710		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77258710G>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1684G>A	X.37:g.77258710G>A	ENSP00000345728:p.Gly562Arg					ATP7A_ENST00000343533.5_Missense_Mutation_p.G562R|ATP7A_ENST00000350425.4_Intron	p.G562R	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			6	1839	+			562					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1684G>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557069	0.45590	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96522	-4.04;-4.01	5.15	5.15	0.70609	.	0.304258	0.32287	N	0.006317	D	0.93357	0.7882	L	0.38692	1.165	0.80722	D	1	B;P	0.43352	0.134;0.804	B;B	0.42245	0.056;0.381	D	0.92974	0.6400	10	0.48119	T	0.1	-20.4553	11.631	0.51175	0.0842:0.0:0.9158:0.0	.	562;572	Q04656;Q59HD1	ATP7A_HUMAN;.	R	562;562;572	ENSP00000343026:G562R;ENSP00000345728:G562R	ENSP00000345728:G562R	G	+	1	0	ATP7A	77145366	1.000000	0.71417	0.437000	0.26809	0.943000	0.58893	3.637000	0.54324	2.294000	0.77228	0.429000	0.28392	GGA		0.368	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		86	109	0	0	0	1	0	86	109				
SLC9C1	285335	broad.mit.edu	37	3	111918276	111918276	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111918276C>T	ENST00000305815.5	-	20	2667	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SLC9C1_ENST00000487372.1_Silent_p.V757V	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	805					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTTTGTTTTCACAGTGACAG	0.289																																						ENST00000305815.5																			0											c.(2413-2415)gtG>gtA		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							77.0	78.0	78.0					3																	111918276		2201	4298	6499	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111918276C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2415G>A	3.37:g.111918276C>T						SLC9C1_ENST00000487372.1_Silent_p.V757V	p.V805V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			20	2667	-			805					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.2415G>A	CCDS33817.1																																																																																				0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		17	29	0	0	0	1	0	17	29				
OR10AD1	121275	broad.mit.edu	37	12	48596795	48596795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596795G>A	ENST00000310248.2	-	1	375	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						ACATACAAAGGAGACAATGTG	0.498																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(280-282)tCc>tTc		olfactory receptor, family 10, subfamily AD, member 1							113.0	96.0	101.0					12																	48596795		2203	4300	6503	SO:0001583	missense	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596795G>A		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.281C>T	12.37:g.48596795G>A	ENSP00000308689:p.Ser94Phe						p.S94F	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	375	-			94					B9EGT9|Q6IFA8	Missense_Mutation	SNP	ENST00000310248.2	37	c.281C>T	CCDS31787.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955344	0.53293	.	.	ENSG00000172640	ENST00000310248	T	0.00745	5.75	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001747	T	0.03783	0.0107	M	0.92604	3.325	0.45342	D	0.998338	P	0.50710	0.938	P	0.49226	0.603	T	0.04885	-1.0920	10	0.87932	D	0	-17.7253	15.4918	0.75611	0.0:0.0:1.0:0.0	.	94	Q8NGE0	O10AD_HUMAN	F	94	ENSP00000308689:S94F	ENSP00000308689:S94F	S	-	2	0	OR10AD1	46883062	1.000000	0.71417	0.997000	0.53966	0.084000	0.17831	9.396000	0.97270	2.582000	0.87167	0.561000	0.74099	TCC		0.498	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			15	19	0	0	0	1	0	15	19				
KLHL34	257240	broad.mit.edu	37	X	21675713	21675713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21675713G>A	ENST00000379499.2	-	1	735	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	65	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGCGCCCGGGATTCCTGGGT	0.642																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(193-195)tCc>tTc		kelch-like family member 34							23.0	25.0	24.0					X																	21675713		2202	4297	6499	SO:0001583	missense	257240							g.chrX:21675713G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.194C>T	X.37:g.21675713G>A	ENSP00000368813:p.Ser65Phe						p.S65F	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	735	-			65			BTB.			Missense_Mutation	SNP	ENST00000379499.2	37	c.194C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590871	0.46214	.	.	ENSG00000185915	ENST00000379499	T	0.73575	-0.76	4.53	4.53	0.55603	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.232118	0.38492	N	0.001678	D	0.90103	0.6908	H	0.95260	3.645	0.49213	D	0.99976	D	0.76494	0.999	D	0.77004	0.989	D	0.93424	0.6779	10	0.87932	D	0	.	16.5627	0.84570	0.0:0.0:1.0:0.0	.	65	Q8N239	KLH34_HUMAN	F	65	ENSP00000368813:S65F	ENSP00000368813:S65F	S	-	2	0	KLHL34	21585634	1.000000	0.71417	0.142000	0.22268	0.590000	0.36582	7.066000	0.76734	2.081000	0.62600	0.422000	0.28245	TCC		0.642	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		12	14	0	0	0	1	0	12	14				
FLNA	2316	broad.mit.edu	37	X	153586662	153586662	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153586662C>T	ENST00000369850.3	-	28	4896	c.4660G>A	c.(4660-4662)Ggg>Agg	p.G1554R	FLNA_ENST00000344736.4_Missense_Mutation_p.G1554R|FLNA_ENST00000422373.1_Missense_Mutation_p.G1554R|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000360319.4_Missense_Mutation_p.G1554R	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1554	Interaction with furin. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GTGTTGAGCCCGGGGCCACTG	0.617																																						ENST00000422373.1																			0				breast(6)	6						c.(4660-4662)Ggg>Agg		filamin A, alpha							34.0	36.0	36.0					X																	153586662		2169	4274	6443	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153586662C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4660G>A	X.37:g.153586662C>T	ENSP00000358866:p.Gly1554Arg					FLNA_ENST00000369850.3_Missense_Mutation_p.G1554R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1554R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1554R	p.G1554R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			28	4908	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		1554			Interaction with furin (By similarity).		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4660G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125089	0.94429	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.67	5.67	0.87782	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	D	0.98953	1.0795	10	0.87932	D	0	.	18.7977	0.92001	0.0:1.0:0.0:0.0	.	1554;1554	P21333-2;P21333	.;FLNA_HUMAN	R	1554;1527;1554;1554;1554	ENSP00000353467:G1554R;ENSP00000416926:G1554R;ENSP00000358866:G1554R;ENSP00000358863:G1554R	ENSP00000358863:G1554R	G	-	1	0	FLNA	153239856	1.000000	0.71417	0.992000	0.48379	0.824000	0.46624	7.792000	0.85828	2.385000	0.81259	0.529000	0.55759	GGG		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			18	31	0	0	0	1	0	18	31				
SMARCE1	6605	broad.mit.edu	37	17	38793756	38793756	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38793756C>T	ENST00000348513.6	-	5	1005	c.225G>A	c.(223-225)agG>agA	p.R75R	KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000431889.2_Silent_p.R57R|SMARCE1_ENST00000544009.1_Silent_p.R5R|SMARCE1_ENST00000400122.3_Silent_p.R5R|SMARCE1_ENST00000377808.4_Silent_p.R40R|SMARCE1_ENST00000580419.1_Silent_p.R40R|SMARCE1_ENST00000578044.1_Silent_p.R5R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	75					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TTCTGCTGTACCTCATGTAGG	0.458																																						ENST00000348513.6																			0				large_intestine(1)	1						c.(223-225)agG>agA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							114.0	98.0	103.0					17																	38793756		2203	4299	6502	SO:0001819	synonymous_variant	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38793756C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.225G>A	17.37:g.38793756C>T						SMARCE1_ENST00000544009.1_Silent_p.R5R|SMARCE1_ENST00000580419.1_Silent_p.R40R|SMARCE1_ENST00000578044.1_Silent_p.R5R|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000400122.3_Silent_p.R5R|SMARCE1_ENST00000377808.4_Silent_p.R40R|SMARCE1_ENST00000431889.2_Silent_p.R57R	p.R75R	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			5	1005	-		Breast(137;0.000812)	75					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Silent	SNP	ENST00000348513.6	37	c.225G>A	CCDS11370.1																																																																																				0.458	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		46	61	0	0	0	1	0	46	61				
ZFHX3	463	broad.mit.edu	37	16	72822417	72822417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822417G>A	ENST00000268489.5	-	10	10430	c.9758C>T	c.(9757-9759)cCc>cTc	p.P3253L	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2339L|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACAGGCAGGGGTTCCCCTTT	0.582																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9757-9759)cCc>cTc		zinc finger homeobox 3							129.0	141.0	137.0					16																	72822417		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822417G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9758C>T	16.37:g.72822417G>A	ENSP00000268489:p.Pro3253Leu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2339L	p.P3253L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10430	-		Ovarian(137;0.13)	3253					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9758C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522831	0.27211	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.79	5.55	2.51	0.30379	.	0.271361	0.26019	N	0.026821	T	0.55593	0.1930	N	0.14661	0.345	0.53005	D	0.999961	B	0.02656	0.0	B	0.01281	0.0	T	0.47611	-0.9104	10	0.56958	D	0.05	.	9.4971	0.38995	0.2694:0.0:0.7306:0.0	.	3253	Q15911	ZFHX3_HUMAN	L	3253;2339	ENSP00000268489:P3253L;ENSP00000438926:P2339L	ENSP00000268489:P3253L	P	-	2	0	ZFHX3	71379918	0.998000	0.40836	0.517000	0.27799	0.979000	0.70002	1.276000	0.33156	0.302000	0.22762	0.557000	0.71058	CCC		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		67	128	0	0	0	1	0	67	128				
CD22	933	broad.mit.edu	37	19	35836539	35836539	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35836539C>T	ENST00000085219.5	+	12	2309	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	CD22_ENST00000419549.2_Missense_Mutation_p.S576F|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000594250.1_Missense_Mutation_p.S571F|CD22_ENST00000341773.6_Missense_Mutation_p.S571F|CD22_ENST00000270311.6_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.S660F|CD22_ENST00000544992.2_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	748					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCCCCACTCCCTGGGATGC	0.577																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2242-2244)tCc>tTc		CD22 molecule	OspA lipoprotein(DB00045)						113.0	92.0	99.0					19																	35836539		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35836539C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2243C>T	19.37:g.35836539C>T	ENSP00000085219:p.Ser748Phe					CD22_ENST00000536635.2_Missense_Mutation_p.S660F|CD22_ENST00000341773.6_Missense_Mutation_p.S571F|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S576F|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.S571F	p.S748F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		12	2309	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		748					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2243C>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135340	0.37728	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000419549	T;T;T;T	0.58060	0.81;0.36;0.4;0.65	4.68	3.49	0.39957	.	0.289758	0.25146	N	0.032797	T	0.66346	0.2780	M	0.75447	2.3	0.33793	D	0.625771	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.986;0.999	T	0.71076	-0.4697	10	0.30854	T	0.27	.	7.1626	0.25672	0.0:0.8364:0.0:0.1636	.	576;660;748;571	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	F	748;660;571;576	ENSP00000085219:S748F;ENSP00000442279:S660F;ENSP00000339349:S571F;ENSP00000403822:S576F	ENSP00000085219:S748F	S	+	2	0	CD22	40528379	0.258000	0.24033	0.902000	0.35471	0.065000	0.16274	0.778000	0.26732	0.856000	0.35383	0.462000	0.41574	TCC		0.577	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		31	38	0	0	0	1	0	31	38				
RREB1	6239	broad.mit.edu	37	6	7230907	7230907	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7230907C>T	ENST00000349384.6	+	10	2889	c.2575C>T	c.(2575-2577)Ctc>Ttc	p.L859F	RREB1_ENST00000379938.2_Missense_Mutation_p.L859F|RREB1_ENST00000379933.3_Missense_Mutation_p.L859F|RREB1_ENST00000334984.6_Missense_Mutation_p.L859F	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	859					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGCAAGCCCCTCACTGCCTT	0.701																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2575-2577)Ctc>Ttc		ras responsive element binding protein 1							13.0	14.0	14.0					6																	7230907		2139	4160	6299	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230907C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2575C>T	6.37:g.7230907C>T	ENSP00000305560:p.Leu859Phe					RREB1_ENST00000334984.6_Missense_Mutation_p.L859F|RREB1_ENST00000349384.6_Missense_Mutation_p.L859F|RREB1_ENST00000379933.3_Missense_Mutation_p.L859F	p.L859F	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	3112	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	859					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2575C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068960	0.20147	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.12672	2.78;2.74;2.78;2.66	4.98	3.12	0.35913	.	0.391080	0.20803	N	0.085386	T	0.07638	0.0192	M	0.63428	1.95	0.30358	N	0.784123	D;P;P	0.53462	0.96;0.933;0.919	P;B;B	0.50537	0.643;0.348;0.316	T	0.12734	-1.0536	10	0.12766	T	0.61	-4.7566	7.7222	0.28740	0.4236:0.4419:0.1345:0.0	.	859;859;859	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	F	859	ENSP00000369265:L859F;ENSP00000369270:L859F;ENSP00000305560:L859F;ENSP00000335574:L859F	ENSP00000335574:L859F	L	+	1	0	RREB1	7175906	0.056000	0.20664	0.697000	0.30258	0.010000	0.07245	0.934000	0.28910	0.628000	0.30357	0.655000	0.94253	CTC		0.701	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			8	13	0	0	0	1	0	8	13				
PRSS36	146547	broad.mit.edu	37	16	31157262	31157262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31157262G>A	ENST00000268281.4	-	6	626	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	190	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCACCCAGGGGAGAGGCAGA	0.597																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(568-570)Ccc>Tcc		protease, serine, 36							38.0	36.0	37.0					16																	31157262		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157262G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.568C>T	16.37:g.31157262G>A	ENSP00000268281:p.Pro190Ser					PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S	p.P190S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			6	626	-			190			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.568C>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115108	0.77210	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.87966	-2.32;-2.32	5.15	5.15	0.70609	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87904	0.6295	N	0.16201	0.385	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.994;0.982	D	0.89478	0.3748	9	0.54805	T	0.06	.	16.4808	0.84157	0.0:0.0:1.0:0.0	.	190;190;190	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	S	190	ENSP00000268281:P190S;ENSP00000407160:P190S	ENSP00000268281:P190S	P	-	1	0	PRSS36	31064763	0.999000	0.42202	1.000000	0.80357	0.834000	0.47266	3.232000	0.51302	2.572000	0.86782	0.491000	0.48974	CCC		0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		18	13	0	0	0	1	0	18	13				
PLCXD2	257068	broad.mit.edu	37	3	111564747	111564747	+	3'UTR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111564747C>T	ENST00000477665.1	+	0	1355				PLCXD2_ENST00000393934.3_3'UTR|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P11L	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGAGAGGTGCCCAAGGAAGAT	0.433																																						ENST00000393923.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(31-33)cCc>cTc		pleckstrin homology-like domain, family B, member 2							174.0	172.0	172.0					3																	111564747		2203	4300	6503	SO:0001624	3_prime_UTR_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111564747C>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.*113C>T	3.37:g.111564747C>T						PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR	p.P11L	NM_001134437.1	NP_001127909.1	Q86SQ0	PHLB2_HUMAN			2	287	+			0					Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.32C>T	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229852	0.58777	.	.	ENSG00000144824	ENST00000359729;ENST00000393923	T	0.32515	1.45	4.25	2.46	0.29980	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19224	-1.0312	9	0.87932	D	0	.	6.4649	0.21975	0.0:0.7834:0.0:0.2166	.	11	Q86SQ0-3	.	L	11	ENSP00000377500:P11L	ENSP00000352764:P11L	P	+	2	0	PHLDB2	113047437	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	0.531000	0.23052	0.748000	0.32831	0.561000	0.74099	CCC		0.433	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		33	52	0	0	0	1	0	33	52				
PLD4	122618	broad.mit.edu	37	14	105395239	105395239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105395239C>A	ENST00000392593.4	+	4	606	c.438C>A	c.(436-438)gaC>gaA	p.D146E	PLD4_ENST00000540372.1_Missense_Mutation_p.D153E	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	146					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CAGGGCCTGACATCGGGGTCA	0.647																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(457-459)gaC>gaA		phospholipase D family, member 4	Choline(DB00122)						49.0	54.0	52.0					14																	105395239		2076	4208	6284	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105395239C>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.438C>A	14.37:g.105395239C>A	ENSP00000376372:p.Asp146Glu					PLD4_ENST00000392593.4_Missense_Mutation_p.D146E	p.D153E			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		4	651	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	146					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.459C>A	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555327	0.27739	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.30714	1.7;1.71;1.52	4.28	2.39	0.29439	.	0.356563	0.27311	N	0.019959	T	0.29321	0.0730	M	0.66560	2.04	0.80722	D	1	P;B	0.34909	0.475;0.201	B;B	0.33799	0.17;0.126	T	0.13791	-1.0496	10	0.62326	D	0.03	-0.0399	8.3841	0.32491	0.0:0.7937:0.0:0.2063	.	153;146	F5H2B5;Q96BZ4	.;PLD4_HUMAN	E	153;146;144	ENSP00000438677:D153E;ENSP00000376372:D146E;ENSP00000451278:D144E	ENSP00000376372:D146E	D	+	3	2	PLD4	104466284	0.682000	0.27624	0.652000	0.29579	0.228000	0.25075	0.485000	0.22324	0.925000	0.37094	0.645000	0.84053	GAC		0.647	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		17	37	1	0	1.99824e-07	1	2.01148e-07	17	37				
PRDM16	63976	broad.mit.edu	37	1	3328624	3328624	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3328624G>A	ENST00000270722.5	+	9	1912	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	PRDM16_ENST00000511072.1_Silent_p.T622T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.T621T|PRDM16_ENST00000442529.2_Silent_p.T621T|PRDM16_ENST00000378398.3_Silent_p.T622T|PRDM16_ENST00000514189.1_Silent_p.T622T|PRDM16_ENST00000441472.2_Silent_p.T621T			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	621					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCACGGGGACGGGCTCGGACC	0.657			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1864-1866)acG>acA		PR domain containing 16							70.0	82.0	78.0					1																	3328624		2173	4256	6429	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328624G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1863G>A	1.37:g.3328624G>A						PRDM16_ENST00000442529.2_Silent_p.T621T|PRDM16_ENST00000514189.1_Silent_p.T622T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.T622T|PRDM16_ENST00000378391.2_Silent_p.T621T|PRDM16_ENST00000270722.5_Silent_p.T621T|PRDM16_ENST00000441472.2_Silent_p.T621T	p.T622T			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1948	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	621					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1866G>A	CCDS41236.2																																																																																				0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		27	64	0	0	0	1	0	27	64				
CEACAM18	729767	broad.mit.edu	37	19	51983645	51983645	+	Silent	SNP	C	C	T	rs374189922		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51983645C>T	ENST00000396477.4	+	2	132	c.111C>T	c.(109-111)acC>acT	p.T37T	CEACAM18_ENST00000451626.1_Silent_p.T98T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	37										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCACCCAAACCCTGGGGATCA	0.527																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(109-111)acC>acT		carcinoembryonic antigen-related cell adhesion molecule 18							45.0	42.0	43.0					19																	51983645		1936	4115	6051	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51983645C>T			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.111C>T	19.37:g.51983645C>T						CEACAM18_ENST00000451626.1_Silent_p.T98T	p.T37T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	132	+		all_neural(266;0.0529)	98					C9JN24	Silent	SNP	ENST00000396477.4	37	c.111C>T																																																																																					0.527	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			4	10	0	0	0	1	0	4	10				
FDFT1	2222	broad.mit.edu	37	8	11687925	11687925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:11687925C>T	ENST00000220584.4	+	6	1097	c.875C>T	c.(874-876)cCa>cTa	p.P292L	FDFT1_ENST00000525777.1_Missense_Mutation_p.P207L|FDFT1_ENST00000530664.1_Missense_Mutation_p.P228L|FDFT1_ENST00000528643.1_Missense_Mutation_p.P207L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000538689.1_Missense_Mutation_p.P181L|FDFT1_ENST00000528812.1_Missense_Mutation_p.P228L|FDFT1_ENST00000525900.1_Missense_Mutation_p.P285L|FDFT1_ENST00000443614.2_Missense_Mutation_p.P249L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	292					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TGTGCTATTCCACAGGTAGGG	0.478																																						ENST00000220584.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12						c.(874-876)cCa>cTa		farnesyl-diphosphate farnesyltransferase 1							117.0	102.0	107.0					8																	11687925		2203	4300	6503	SO:0001583	missense	2222				cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	g.chr8:11687925C>T	X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.875C>T	8.37:g.11687925C>T	ENSP00000220584:p.Pro292Leu					FDFT1_ENST00000525900.1_Missense_Mutation_p.P285L|FDFT1_ENST00000525777.1_Missense_Mutation_p.P207L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.P249L|FDFT1_ENST00000538689.1_Missense_Mutation_p.P181L|FDFT1_ENST00000528643.1_Missense_Mutation_p.P207L|FDFT1_ENST00000530664.1_Missense_Mutation_p.P228L|FDFT1_ENST00000528812.1_Missense_Mutation_p.P228L	p.P292L	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)	6	1097	+	all_epithelial(15;0.234)		292					B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	ENST00000220584.4	37	c.875C>T	CCDS5985.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651160	0.88056	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.45	5.45	0.79879	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.95884	3.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.999;0.999;0.999	D	0.95676	0.8728	10	0.87932	D	0	-19.0443	18.6401	0.91392	0.0:1.0:0.0:0.0	.	125;249;349;285;292	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	L	181;292;249;285;228;228;207;207	ENSP00000444248:P181L;ENSP00000220584:P292L;ENSP00000390367:P249L;ENSP00000434714:P285L;ENSP00000431749:P228L;ENSP00000432331:P228L;ENSP00000431649:P207L;ENSP00000436069:P207L	ENSP00000220584:P292L	P	+	2	0	FDFT1	11725334	1.000000	0.71417	0.936000	0.37596	0.596000	0.36781	5.813000	0.69201	2.706000	0.92434	0.655000	0.94253	CCA		0.478	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207588.2			19	54	0	0	0	1	0	19	54				
GALR3	8484	broad.mit.edu	37	22	38219451	38219451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38219451G>A	ENST00000249041.2	+	1	63	c.38G>A	c.(37-39)gGg>gAg	p.G13E		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	13					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GACAGCCCAGGGAGTGTGGGG	0.617																																						ENST00000249041.2																			0				endometrium(1)|liver(2)|lung(1)	4						c.(37-39)gGg>gAg		galanin receptor 3							75.0	74.0	74.0					22																	38219451		2203	4300	6503	SO:0001583	missense	8484				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr22:38219451G>A	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.38G>A	22.37:g.38219451G>A	ENSP00000249041:p.Gly13Glu						p.G13E	NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN			1	63	+	Melanoma(58;0.045)		13					Q53YJ4	Missense_Mutation	SNP	ENST00000249041.2	37	c.38G>A	CCDS13958.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319581	0.23994	.	.	ENSG00000128310	ENST00000249041	T	0.64438	-0.1	5.45	5.45	0.79879	.	0.372666	0.25481	N	0.030363	T	0.30198	0.0757	N	0.08118	0	0.19300	N	0.999979	B	0.33549	0.417	B	0.28638	0.092	T	0.41342	-0.9514	10	0.05436	T	0.98	.	5.2929	0.15737	0.1158:0.0:0.6832:0.201	.	13	O60755	GALR3_HUMAN	E	13	ENSP00000249041:G13E	ENSP00000249041:G13E	G	+	2	0	GALR3	36549397	0.993000	0.37304	0.812000	0.32479	0.367000	0.29736	2.309000	0.43699	2.838000	0.97847	0.655000	0.94253	GGG		0.617	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1			33	51	0	0	0	1	0	33	51				
RNF111	54778	broad.mit.edu	37	15	59359174	59359174	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:59359174C>T	ENST00000557998.1	+	6	1865	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V	RNF111_ENST00000561186.1_Silent_p.V526V|RNF111_ENST00000348370.4_Silent_p.V526V|RNF111_ENST00000559209.1_Silent_p.V526V|RNF111_ENST00000434298.1_Silent_p.V526V	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	526					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCCAGCTGTCCCAGTTTCTC	0.488																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1576-1578)gtC>gtT		ring finger protein 111							203.0	150.0	168.0					15																	59359174		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59359174C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1578C>T	15.37:g.59359174C>T						RNF111_ENST00000557998.1_Silent_p.V526V|RNF111_ENST00000561186.1_Silent_p.V526V|RNF111_ENST00000559209.1_Silent_p.V526V|RNF111_ENST00000434298.1_Silent_p.V526V	p.V526V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	6	2011	+			526					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.1578C>T	CCDS58366.1																																																																																				0.488	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		36	56	0	0	0	1	0	36	56				
DOPEY1	23033	broad.mit.edu	37	6	83829546	83829546	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:83829546C>T	ENST00000349129.2	+	9	1220	c.960C>T	c.(958-960)ttC>ttT	p.F320F	DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Silent_p.F311F|DOPEY1_ENST00000369739.3_Silent_p.F311F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	320					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTACTATTTCACTACCTTTT	0.363																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(958-960)ttC>ttT		dopey family member 1							135.0	125.0	129.0					6																	83829546		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83829546C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.960C>T	6.37:g.83829546C>T						DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.F311F|DOPEY1_ENST00000237163.5_Silent_p.F311F	p.F320F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	9	1220	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	320					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.960C>T	CCDS4996.1																																																																																				0.363	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		25	21	0	0	0	1	0	25	21				
PLCH1	23007	broad.mit.edu	37	3	155199305	155199305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199305G>A	ENST00000340059.7	-	23	4533	c.4534C>T	c.(4534-4536)Cag>Tag	p.Q1512*	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.Q1474*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1512					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTAATACACTGGTACTTGCTC	0.453																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4420-4422)Cag>Tag		phospholipase C, eta 1							70.0	71.0	70.0					3																	155199305		2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199305G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4534C>T	3.37:g.155199305G>A	ENSP00000345988:p.Gln1512*					PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q1512*|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	p.Q1474*			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4777	-			1512					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.4420C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	41	9.030342	0.99042	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.02	5.02	0.67125	.	0.518575	0.21875	N	0.067826	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.1558	0.54077	0.0:0.0:0.7003:0.2997	.	.	.	.	X	1474;1512;1474;1474	.	ENSP00000335469:Q1474X	Q	-	1	0	PLCH1	156681999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.910000	0.48766	2.311000	0.77944	0.650000	0.86243	CAG		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		25	40	0	0	0	1	0	25	40				
SRBD1	55133	broad.mit.edu	37	2	45829214	45829214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45829214G>A	ENST00000263736.4	-	3	151	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	30					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTCTTCAGAGGCAGATGATCT	0.398																																						ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(88-90)gCc>gTc		S1 RNA binding domain 1							87.0	90.0	89.0					2																	45829214		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45829214G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.89C>T	2.37:g.45829214G>A	ENSP00000263736:p.Ala30Val						p.A30V	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		3	151	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	30					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.89C>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711525	0.48517	.	.	ENSG00000068784	ENST00000263736	T	0.23348	1.91	5.82	2.65	0.31530	.	0.789290	0.11298	N	0.578521	T	0.14527	0.0351	N	0.14661	0.345	0.80722	D	1	B	0.28128	0.201	B	0.24155	0.051	T	0.06734	-1.0810	10	0.59425	D	0.04	.	7.1938	0.25841	0.0:0.1521:0.447:0.401	.	30	Q8N5C6	SRBD1_HUMAN	V	30	ENSP00000263736:A30V	ENSP00000263736:A30V	A	-	2	0	SRBD1	45682718	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.961000	0.29267	0.742000	0.32697	0.563000	0.77884	GCC		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		23	59	0	0	0	1	0	23	59				
DICER1	23405	broad.mit.edu	37	14	95592951	95592951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95592951G>A	ENST00000526495.1	-	9	1160	c.869C>T	c.(868-870)tCa>tTa	p.S290L	DICER1_ENST00000541352.1_Missense_Mutation_p.S290L|DICER1_ENST00000527414.1_Missense_Mutation_p.S290L|DICER1_ENST00000393063.1_Missense_Mutation_p.S290L|DICER1_ENST00000343455.3_Missense_Mutation_p.S290L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	290	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTTTCTTTTGAATGTACAGA	0.289			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(868-870)tCa>tTa		dicer 1, ribonuclease type III							69.0	76.0	74.0					14																	95592951		2203	4298	6501	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95592951G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.869C>T	14.37:g.95592951G>A	ENSP00000437256:p.Ser290Leu					DICER1_ENST00000343455.3_Missense_Mutation_p.S290L|DICER1_ENST00000527414.1_Missense_Mutation_p.S290L|DICER1_ENST00000393063.1_Missense_Mutation_p.S290L|DICER1_ENST00000541352.1_Missense_Mutation_p.S290L	p.S290L			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	9	1160	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	290			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.869C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340188	0.41398	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.71	5.39	4.47	0.54385	.	0.305839	0.36167	N	0.002752	T	0.43875	0.1267	L	0.36672	1.1	0.40816	D	0.983463	B	0.06786	0.001	B	0.06405	0.002	T	0.29792	-1.0000	10	0.33940	T	0.23	-6.3674	15.0625	0.71967	0.0:0.2693:0.7307:0.0	.	290	Q9UPY3	DICER_HUMAN	L	290	ENSP00000343745:S290L;ENSP00000437256:S290L;ENSP00000376783:S290L;ENSP00000435681:S290L;ENSP00000444719:S290L	ENSP00000343745:S290L	S	-	2	0	DICER1	94662704	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.959000	0.49153	1.232000	0.43678	0.655000	0.94253	TCA		0.289	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			33	49	0	0	0	1	0	33	49				
PLCH1	23007	broad.mit.edu	37	3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155200384G>A	ENST00000340059.7	-	23	3454	c.3455C>T	c.(3454-3456)tCt>tTt	p.S1152F	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1114F	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3340-3342)tCt>tTt		phospholipase C, eta 1							82.0	76.0	78.0					3																	155200384		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200384G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3455C>T	3.37:g.155200384G>A	ENSP00000345988:p.Ser1152Phe					PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	p.S1114F			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3698	-			1152					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3341C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690886	0.68271	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.57	4.68	0.58851	.	0.462157	0.25481	N	0.030364	T	0.58722	0.2142	L	0.36672	1.1	0.52099	D	0.999948	D;D	0.76494	0.999;0.997	D;D	0.69654	0.965;0.923	T	0.62704	-0.6798	10	0.87932	D	0	.	15.3276	0.74179	0.0:0.1403:0.8597:0.0	.	1114;1152	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	F	1114;1152;1114;1114	ENSP00000417502:S1114F;ENSP00000345988:S1152F;ENSP00000335469:S1114F;ENSP00000412977:S1114F	ENSP00000335469:S1114F	S	-	2	0	PLCH1	156683078	1.000000	0.71417	0.700000	0.30305	0.732000	0.41865	5.704000	0.68347	1.310000	0.45006	0.591000	0.81541	TCT		0.443	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		24	40	0	0	0	1	0	24	40				
USP11	8237	broad.mit.edu	37	X	47092374	47092374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47092374G>A	ENST00000218348.3	+	1	61	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	USP11_ENST00000377107.2_5'UTR	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	21					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAGAATCCGGAAGTGGCTGT	0.612																																						ENST00000218348.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(61-63)Gaa>Aaa		ubiquitin specific peptidase 11							34.0	33.0	33.0					X																	47092374		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47092374G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.61G>A	X.37:g.47092374G>A	ENSP00000218348:p.Glu21Lys					USP11_ENST00000377107.2_5'UTR	p.E21K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN			1	61	+			21					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.61G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281036	0.95489	.	.	ENSG00000102226	ENST00000218348	T	0.21543	2.0	4.53	4.53	0.55603	.	.	.	.	.	T	0.25531	0.0621	N	0.08118	0	0.28483	N	0.91486	D	0.63880	0.993	D	0.68192	0.956	T	0.14062	-1.0486	9	0.87932	D	0	-9.2041	12.2286	0.54474	0.0:0.0:1.0:0.0	.	21	P51784	UBP11_HUMAN	K	21	ENSP00000218348:E21K	ENSP00000218348:E21K	E	+	1	0	USP11	46977318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.629000	0.46485	2.176000	0.68965	0.513000	0.50165	GAA		0.612	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		25	62	0	0	0	1	0	25	62				
SLC22A15	55356	broad.mit.edu	37	1	116562275	116562275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116562275G>A	ENST00000369503.4	+	3	503	c.373G>A	c.(373-375)Gga>Aga	p.G125R	SLC22A15_ENST00000369502.1_Missense_Mutation_p.G125R|RP11-159M11.2_ENST00000453128.1_RNA	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	125					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTATTTGTTGGAGTTATCTC	0.383																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(373-375)Gga>Aga		solute carrier family 22, member 15							179.0	149.0	158.0					1																	116562275		1829	4086	5915	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116562275G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.373G>A	1.37:g.116562275G>A	ENSP00000358515:p.Gly125Arg					SLC22A15_ENST00000369502.1_Missense_Mutation_p.G125R	p.G125R	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	3	503	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	125					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.373G>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556105	0.86231	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	D;T	0.89810	-2.57;0.18	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.050443	0.85682	D	0.000000	D	0.96182	0.8755	H	0.96239	3.79	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.986	D	0.97139	0.9823	10	0.87932	D	0	.	16.8965	0.86102	0.0:0.0:1.0:0.0	.	125;125	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	R	125	ENSP00000358515:G125R;ENSP00000358514:G125R	ENSP00000358514:G125R	G	+	1	0	SLC22A15	116363798	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	7.373000	0.79623	2.640000	0.89533	0.655000	0.94253	GGA		0.383	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		10	10	0	0	0	1	0	10	10				
SASH1	23328	broad.mit.edu	37	6	148867169	148867169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:148867169C>T	ENST00000367467.3	+	19	3842	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1123					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGTGGGATTCCTGAAGCCCT	0.522																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3367-3369)Cct>Tct		SAM and SH3 domain containing 1							65.0	67.0	66.0					6																	148867169		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148867169C>T	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3367C>T	6.37:g.148867169C>T	ENSP00000356437:p.Pro1123Ser						p.P1123S	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	19	3842	+		Ovarian(120;0.0169)	1123					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3367C>T	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933734	0.92458	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.46063	0.88	5.46	5.46	0.80206	.	0.096735	0.64402	D	0.000001	T	0.49253	0.1546	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.53718	-0.8399	10	0.87932	D	0	-18.7529	19.3156	0.94211	0.0:1.0:0.0:0.0	.	1123	O94885	SASH1_HUMAN	S	1123;533	ENSP00000356437:P1123S	ENSP00000356437:P1123S	P	+	1	0	SASH1	148908862	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	7.202000	0.77856	2.567000	0.86603	0.655000	0.94253	CCT		0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		24	19	0	0	0	1	0	24	19				
DBNDD1	79007	broad.mit.edu	37	16	90072751	90072751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90072751C>T	ENST00000002501.6	-	4	600	c.469G>A	c.(469-471)Gag>Aag	p.E157K	DBNDD1_ENST00000304733.3_Missense_Mutation_p.E177K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E277K|DBNDD1_ENST00000392973.3_Missense_Mutation_p.E163K	NM_001042610.1	NP_001036075.1	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 1	157						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTCTAGTCCTCCTGGGGCCTC	0.642																																						ENST00000392973.3																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(487-489)Gag>Aag		dysbindin (dystrobrevin binding protein 1) domain containing 1							38.0	46.0	44.0					16																	90072751		2081	4204	6285	SO:0001583	missense	79007					cytoplasm		g.chr16:90072751C>T	AK090696	CCDS10991.2, CCDS42223.1, CCDS73931.1	16q24.3	2008-02-05			ENSG00000003249	ENSG00000003249			28455	protein-coding gene	gene with protein product						12477932	Standard	NM_001288708		Approved	MGC3101, FLJ12582	uc002fqe.1	Q9H9R9	OTTHUMG00000138984	ENST00000002501.6:c.469G>A	16.37:g.90072751C>T	ENSP00000002501:p.Glu157Lys					DBNDD1_ENST00000568838.1_Missense_Mutation_p.E277K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E157K|DBNDD1_ENST00000304733.3_Missense_Mutation_p.E177K	p.E163K			Q9H9R9	DBND1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	3	1218	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	157					B4DQS3|Q69YT2|Q9BW25	Missense_Mutation	SNP	ENST00000002501.6	37	c.487G>A	CCDS42223.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160206	0.57368	.	.	ENSG00000003249	ENST00000304733;ENST00000002501;ENST00000392973	T;T	0.51574	0.7;0.75	5.64	4.69	0.59074	.	0.206475	0.40144	N	0.001178	T	0.36248	0.0960	L	0.29908	0.895	0.41324	D	0.987195	B;B	0.19331	0.005;0.035	B;B	0.20767	0.008;0.031	T	0.24476	-1.0159	10	0.72032	D	0.01	-24.6152	10.5472	0.45066	0.0:0.7556:0.1692:0.0752	.	157;177	Q9H9R9;Q9H9R9-2	DBND1_HUMAN;.	K	177;157;277	ENSP00000306407:E177K;ENSP00000002501:E157K	ENSP00000002501:E157K	E	-	1	0	DBNDD1	88600252	0.998000	0.40836	1.000000	0.80357	0.328000	0.28507	1.568000	0.36418	1.388000	0.46506	0.491000	0.48974	GAG		0.642	DBNDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272872.1	NM_024043		11	8	0	0	0	1	0	11	8				
RERE	473	broad.mit.edu	37	1	8418746	8418746	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8418746G>A	ENST00000337907.3	-	21	4483	c.3849C>T	c.(3847-3849)ccC>ccT	p.P1283P	RERE_ENST00000377464.1_Silent_p.P1015P|RERE_ENST00000400908.2_Silent_p.P1283P|RERE_ENST00000476556.1_Silent_p.P729P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1283					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGCCAGCAGGGGGTCCGTGG	0.672																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3847-3849)ccC>ccT		arginine-glutamic acid dipeptide (RE) repeats							59.0	65.0	63.0					1																	8418746		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8418746G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3849C>T	1.37:g.8418746G>A						RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P1015P|RERE_ENST00000400908.2_Silent_p.P1283P|RERE_ENST00000476556.1_Silent_p.P729P	p.P1283P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	21	4483	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	1283					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.3849C>T	CCDS95.1																																																																																				0.672	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			21	33	0	0	0	1	0	21	33				
CORO1B	57175	broad.mit.edu	37	11	67207899	67207899	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67207899C>T	ENST00000341356.5	-	7	878	c.768G>A	c.(766-768)gaG>gaA	p.E256E	CORO1B_ENST00000393893.1_Silent_p.E256E|CORO1B_ENST00000539724.1_5'Flank|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	256					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCATGGGTTCCTCGAGGTTTT	0.627																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(766-768)gaG>gaA		coronin, actin binding protein, 1B							82.0	74.0	76.0					11																	67207899		2200	4295	6495	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67207899C>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.768G>A	11.37:g.67207899C>T						CORO1B_ENST00000341356.5_Silent_p.E256E	p.E256E	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		8	871	-			256					B2RD45	Silent	SNP	ENST00000341356.5	37	c.768G>A	CCDS8164.1																																																																																				0.627	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		15	39	0	0	0	1	0	15	39				
ZNF512	84450	broad.mit.edu	37	2	27823642	27823642	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823642C>T	ENST00000355467.4	+	6	625	c.542C>T	c.(541-543)aCc>aTc	p.T181I	ZNF512_ENST00000416005.2_Missense_Mutation_p.T152I|ZNF512_ENST00000379717.1_Missense_Mutation_p.T180I|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.T104I	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGGAGGAAGACCATAGAGGGT	0.423																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(541-543)aCc>aTc		zinc finger protein 512							111.0	104.0	107.0					2																	27823642		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27823642C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.542C>T	2.37:g.27823642C>T	ENSP00000347648:p.Thr181Ile					ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.T180I|ZNF512_ENST00000416005.2_Missense_Mutation_p.T152I|ZNF512_ENST00000413371.2_Missense_Mutation_p.T104I	p.T181I			Q96ME7	ZN512_HUMAN			6	625	+	Acute lymphoblastic leukemia(172;0.155)		181					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.542C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672573	0.88348	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371	.	.	.	5.87	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.994;0.996;0.996	T	0.77373	-0.2612	9	0.54805	T	0.06	-12.0977	13.6581	0.62349	0.155:0.845:0.0:0.0	.	76;152;181	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	I	180;181;152;104	.	ENSP00000347648:T181I	T	+	2	0	ZNF512	27677146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.997000	0.76270	1.590000	0.49995	0.655000	0.94253	ACC		0.423	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		31	47	0	0	0	1	0	31	47				
DALRD3	55152	broad.mit.edu	37	3	49054727	49054727	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49054727C>T	ENST00000341949.4	-	5	867	c.861G>A	c.(859-861)gaG>gaA	p.E287E	DALRD3_ENST00000441576.2_Silent_p.E287E|DALRD3_ENST00000395462.4_Silent_p.E120E|DALRD3_ENST00000313778.5_Silent_p.E120E|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_Silent_p.E120E	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	287					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGGAACTCCTCCTCACAGC	0.507																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(358-360)gaG>gaA		DALR anticodon binding domain containing 3							116.0	119.0	118.0					3																	49054727		2203	4300	6503	SO:0001819	synonymous_variant	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054727C>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.861G>A	3.37:g.49054727C>T						DALRD3_ENST00000395462.4_Silent_p.E120E|DALRD3_ENST00000341949.4_Silent_p.E287E|DALRD3_ENST00000441576.2_Silent_p.E287E|DALRD3_ENST00000313778.5_Silent_p.E120E	p.E120E			Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	1062	-			287					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	ENST00000341949.4	37	c.360G>A	CCDS33754.1																																																																																				0.507	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		40	72	0	0	0	1	0	40	72				
EEF2	1938	broad.mit.edu	37	19	3982015	3982015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3982015G>A	ENST00000309311.6	-	6	915	c.827C>T	c.(826-828)tCa>tTa	p.S276L	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	276	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTGGCTGACTTGCTGAA	0.612																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(826-828)tCa>tTa		eukaryotic translation elongation factor 2							104.0	95.0	98.0					19																	3982015		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3982015G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.827C>T	19.37:g.3982015G>A	ENSP00000307940:p.Ser276Leu						p.S276L	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	6	915	-		Hepatocellular(1079;0.137)	276					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.827C>T	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988684	0.74589	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.33438	1.41	6.05	6.05	0.98169	Protein synthesis factor, GTP-binding (1);	0.115078	0.64402	D	0.000011	T	0.45115	0.1326	M	0.85630	2.765	0.80722	D	1	B	0.15141	0.012	B	0.18561	0.022	T	0.40757	-0.9546	10	0.62326	D	0.03	-30.8316	19.5816	0.95469	0.0:0.0:1.0:0.0	.	276	P13639	EF2_HUMAN	L	276	ENSP00000307940:S276L	ENSP00000307940:S276L	S	-	2	0	EEF2	3933015	1.000000	0.71417	0.971000	0.41717	0.696000	0.40369	7.823000	0.86660	2.872000	0.98467	0.650000	0.86243	TCA		0.612	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		49	24	0	0	0	1	0	49	24				
FLNA	2316	broad.mit.edu	37	X	153596373	153596373	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153596373G>A	ENST00000369850.3	-	3	695	c.459C>T	c.(457-459)ccC>ccT	p.P153P	FLNA_ENST00000344736.4_Silent_p.P153P|FLNA_ENST00000422373.1_Silent_p.P153P|FLNA_ENST00000360319.4_Silent_p.P153P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	153	Actin-binding.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CGTCCCACATGGGCATGGAGA	0.597																																						ENST00000422373.1																			0				breast(6)	6						c.(457-459)ccC>ccT		filamin A, alpha							127.0	134.0	132.0					X																	153596373		2184	4280	6464	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153596373G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.459C>T	X.37:g.153596373G>A						FLNA_ENST00000369850.3_Silent_p.P153P|FLNA_ENST00000360319.4_Silent_p.P153P|FLNA_ENST00000344736.4_Silent_p.P153P	p.P153P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			3	707	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		153			Actin-binding.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.459C>T	CCDS48194.1																																																																																				0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			107	143	0	0	0	1	0	107	143				
WDR62	284403	broad.mit.edu	37	19	36595903	36595903	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36595903C>T	ENST00000270301.7	+	32	4530	c.4530C>T	c.(4528-4530)gcC>gcT	p.A1510A	WDR62_ENST00000401500.2_Silent_p.A1515A			O43379	WDR62_HUMAN	WD repeat domain 62	1510					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGTGCAGGCCGTGCGGAGGA	0.652																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(4543-4545)gcC>gcT		WD repeat domain 62							10.0	11.0	10.0					19																	36595903		2174	4221	6395	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36595903C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.4530C>T	19.37:g.36595903C>T						WDR62_ENST00000270301.7_Silent_p.A1510A	p.A1515A	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		32	4580	+	Esophageal squamous(110;0.162)		1510					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.4545C>T	CCDS33001.1																																																																																				0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		5	9	0	0	0	1	0	5	9				
ZFAND6	54469	broad.mit.edu	37	15	80429936	80429936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80429936C>T	ENST00000261749.6	+	7	1015	c.593C>T	c.(592-594)cCa>cTa	p.P198L	ZFAND6_ENST00000561060.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.P186L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559835.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.P198L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	198					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AAAGAAAATCCAGTAGTTGTT	0.353																																						ENST00000261749.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(592-594)cCa>cTa		zinc finger, AN1-type domain 6							80.0	73.0	75.0					15																	80429936		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80429936C>T	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.593C>T	15.37:g.80429936C>T	ENSP00000261749:p.Pro198Leu					ZFAND6_ENST00000559835.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.P186L|ZFAND6_ENST00000561060.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.P198L	p.P198L	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN			7	1015	+			198					D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.593C>T	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616897	0.87359	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.53	5.53	0.82687	Zinc finger, AN1-type (1);	0.000000	0.64402	D	0.000011	D	0.86810	0.6022	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.89589	0.3826	9	0.87932	D	0	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	186;198	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	L	198	.	ENSP00000261749:P198L	P	+	2	0	ZFAND6	78216991	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.428000	0.80296	2.605000	0.88082	0.655000	0.94253	CCA		0.353	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		7	18	0	0	0	1	0	7	18				
HNRNPH2	3188	broad.mit.edu	37	X	100666951	100666951	+	5'UTR	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100666951T>G	ENST00000316594.5	+	0	53				RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.T120T	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TGAGCCAAACTTGCCACCAAG	0.463																																						ENST00000409170.3																			0											c.(358-360)acT>acG									90.0	84.0	86.0					X																	100666951		2203	4300	6503	SO:0001623	5_prime_UTR_variant	100529097							g.chrX:100666951T>G	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.-26T>G	X.37:g.100666951T>G						HNRNPH2_ENST00000316594.5_5'UTR	p.T120T							5	360	+								A1L400|Q9HHA7	Silent	SNP	ENST00000316594.5	37	c.360T>G	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	T	6.198	0.404643	0.11754	.	.	ENSG00000257529	ENST00000409338	T	0.48201	0.82	4.23	1.77	0.24775	.	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.09773	-1.0659	7	0.72032	D	0.01	.	2.2981	0.04155	0.218:0.2451:0.0:0.5369	.	.	.	.	V	80	ENSP00000386974:L80V	ENSP00000386974:L80V	L	+	1	2	RP1-164F3.9	100553607	0.988000	0.35896	0.787000	0.31911	0.660000	0.38997	1.304000	0.33482	0.245000	0.21373	0.486000	0.48141	TTG		0.463	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		57	74	0	0	0	1	0	57	74				
HMCN1	83872	broad.mit.edu	37	1	186088430	186088430	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186088430G>A	ENST00000271588.4	+	78	12185	c.11956G>A	c.(11956-11958)Gag>Aag	p.E3986K	HMCN1_ENST00000367492.2_Splice_Site_p.E3986K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3986					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATGTTCATGGTATGGAAGG	0.443																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.e78+1		hemicentin 1							103.0	95.0	98.0					1																	186088430		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088430G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11956+1G>A	1.37:g.186088430G>A						HMCN1_ENST00000367492.2_Splice_Site_p.E3986_splice	p.E3986_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			78	12185	+			3986					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.11956_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282798	0.80692	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.78707	-1.2;-1.2	5.59	5.59	0.84812	Immunoglobulin-like fold (1);	0.146657	0.64402	D	0.000011	D	0.84840	0.5561	L	0.56340	1.77	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.79334	-0.1846	10	0.13853	T	0.58	.	19.5852	0.95487	0.0:0.0:1.0:0.0	.	3986	Q96RW7	HMCN1_HUMAN	K	3986	ENSP00000271588:E3986K;ENSP00000356462:E3986K	ENSP00000271588:E3986K	E	+	1	0	HMCN1	184355053	1.000000	0.71417	0.997000	0.53966	0.379000	0.30106	8.391000	0.90177	2.633000	0.89246	0.585000	0.79938	GAG		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Missense_Mutation	37	40	0	0	0	1	0	37	40				
VWCE	220001	broad.mit.edu	37	11	61048417	61048417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61048417G>A	ENST00000335613.5	-	8	1464	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	360						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCCCCCTGAAGGAGTGAGGGG	0.687																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1078-1080)Ctt>Ttt		von Willebrand factor C and EGF domains							16.0	19.0	18.0					11																	61048417		2198	4298	6496	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61048417G>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1078C>T	11.37:g.61048417G>A	ENSP00000334186:p.Leu360Phe						p.L360F	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			8	1464	-			360					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1078C>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	4.820	0.152371	0.09185	.	.	ENSG00000167992	ENST00000335613	T	0.70869	-0.52	5.51	1.02	0.19986	.	0.142348	0.29822	N	0.011114	T	0.45296	0.1335	N	0.16368	0.405	0.09310	N	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.20140	-1.0284	10	0.09590	T	0.72	.	6.2891	0.21049	0.2487:0.0:0.6163:0.1349	.	360	Q96DN2	VWCE_HUMAN	F	360	ENSP00000334186:L360F	ENSP00000334186:L360F	L	-	1	0	VWCE	60804993	0.014000	0.17966	0.007000	0.13788	0.072000	0.16883	0.360000	0.20250	0.306000	0.22856	-0.254000	0.11334	CTT		0.687	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		3	12	0	0	0	1	0	3	12				
SKI	6497	broad.mit.edu	37	1	2160947	2160947	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160947C>T	ENST00000378536.4	+	1	814	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	248					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)		CATCCAGTGCCTGGACTGCCG	0.667																																					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.(742-744)Ctg>Ttg		v-ski avian sarcoma viral oncogene homolog							22.0	26.0	24.0					1																	2160947		2185	4284	6469	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.chr1:2160947C>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.742C>T	1.37:g.2160947C>T							p.L248L	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	814	+	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)		248					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.742C>T	CCDS39.1																																																																																				0.667	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		19	16	0	0	0	1	0	19	16				
CHDH	55349	broad.mit.edu	37	3	53857423	53857423	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857423C>T	ENST00000315251.6	-	3	1050	c.613G>A	c.(613-615)Gcc>Acc	p.A205T		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	205					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCGTGGCCTCCAGGAAT	0.682																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(613-615)Gcc>Acc		choline dehydrogenase	Choline(DB00122)						38.0	39.0	39.0					3																	53857423		2201	4300	6501	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53857423C>T	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.613G>A	3.37:g.53857423C>T	ENSP00000319851:p.Ala205Thr						p.A205T	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	1050	-		Hepatocellular(537;0.152)	205					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.613G>A	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613535	0.87359	.	.	ENSG00000016391	ENST00000315251	T	0.60171	0.21	5.72	5.72	0.89469	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.77486	2.375	0.80722	D	1	D	0.60575	0.988	P	0.59761	0.863	T	0.78084	-0.2342	10	0.87932	D	0	-34.7388	19.8824	0.96903	0.0:1.0:0.0:0.0	.	205	Q8NE62	CHDH_HUMAN	T	205	ENSP00000319851:A205T	ENSP00000319851:A205T	A	-	1	0	CHDH	53832463	1.000000	0.71417	0.913000	0.36048	0.157000	0.22087	7.339000	0.79282	2.702000	0.92279	0.557000	0.71058	GCC		0.682	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		6	9	0	0	0	1	0	6	9				
CNGA3	1261	broad.mit.edu	37	2	98994154	98994154	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:98994154C>T	ENST00000272602.2	+	2	145	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	CNGA3_ENST00000393504.1_Missense_Mutation_p.H36Y|CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.H36Y			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	36					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCCTAGAGCCCACTCGTCAAG	0.567																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(106-108)Cac>Tac		cyclic nucleotide gated channel alpha 3							34.0	29.0	31.0					2																	98994154		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98994154C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.106C>T	2.37:g.98994154C>T	ENSP00000272602:p.His36Tyr					CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.H36Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.H36Y	p.H36Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			3	523	+			36					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.106C>T	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	0.353	-0.943608	0.02322	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	D;D;D	0.97430	-4.38;-4.28;-4.38	5.01	2.16	0.27623	.	.	.	.	.	D	0.92835	0.7721	M	0.64997	1.995	0.09310	N	1	B;B	0.31730	0.047;0.337	B;B	0.25759	0.027;0.063	T	0.82546	-0.0403	9	0.02654	T	1	.	5.4527	0.16574	0.1603:0.6682:0.0:0.1715	.	36;36	Q4VAP7;Q16281	.;CNGA3_HUMAN	Y	36	ENSP00000377140:H36Y;ENSP00000410070:H36Y;ENSP00000272602:H36Y	ENSP00000272602:H36Y	H	+	1	0	CNGA3	98360586	0.978000	0.34361	0.133000	0.22050	0.330000	0.28571	0.740000	0.26188	0.350000	0.24002	0.655000	0.94253	CAC		0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		6	12	0	0	0	1	0	6	12				
OBSCN	84033	broad.mit.edu	37	1	228559547	228559547	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559547C>T	ENST00000422127.1	+	94	21112	c.21068C>T	c.(21067-21069)tCc>tTc	p.S7023F	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4657F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S7980F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023	Pro-rich.				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)				GAGAGGCCATCCCCGGACAGC	0.697																																						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.(23938-23940)tCc>tTc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15.0	17.0	16.0					1																	228559547		1968	4150	6118	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.chr1:228559547C>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.21068C>T	1.37:g.228559547C>T	ENSP00000409493:p.Ser7023Phe					OBSCN_ENST00000422127.1_Missense_Mutation_p.S7023F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4657F	p.S7980F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	24013	+		Prostate(94;0.0405)	7023					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.23939C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206025	0.58234	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.65732	-0.17;-0.17	4.36	2.42	0.29668	.	.	.	.	.	T	0.45276	0.1334	L	0.27053	0.805	0.24942	N	0.99184	P	0.40476	0.718	B	0.36808	0.233	T	0.30995	-0.9959	9	0.62326	D	0.03	.	7.4211	0.27073	0.0:0.7392:0.1675:0.0932	.	7023	Q5VST9	OBSCN_HUMAN	F	7023;4657	ENSP00000409493:S7023F;ENSP00000355668:S4657F	ENSP00000355668:S4657F	S	+	2	0	OBSCN	226626170	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.104000	0.10923	0.571000	0.29365	0.555000	0.69702	TCC		0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		31	8	0	0	0	1	0	31	8				
NCOR2	9612	broad.mit.edu	37	12	124824853	124824853	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824853G>A	ENST00000405201.1	-	36	5475	c.5475C>T	c.(5473-5475)ccC>ccT	p.P1825P	NCOR2_ENST00000404121.2_Silent_p.P1386P|NCOR2_ENST00000404621.1_Silent_p.P1815P|NCOR2_ENST00000397355.1_Silent_p.P1816P|NCOR2_ENST00000356219.3_Silent_p.P1832P|NCOR2_ENST00000429285.2_Silent_p.P1815P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1833					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTCCAGATGGGTGCGTGCT	0.682																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5494-5496)ccC>ccT		nuclear receptor corepressor 2							48.0	58.0	55.0					12																	124824853		2067	4198	6265	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824853G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5475C>T	12.37:g.124824853G>A						NCOR2_ENST00000404621.1_Silent_p.P1815P|NCOR2_ENST00000429285.2_Silent_p.P1815P|NCOR2_ENST00000405201.1_Silent_p.P1825P|NCOR2_ENST00000404121.2_Silent_p.P1386P|NCOR2_ENST00000397355.1_Silent_p.P1816P	p.P1832P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	37	5651	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1833					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5496C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	1.330	-0.597083	0.03771	.	.	ENSG00000196498	ENST00000440187;ENST00000453428	.	.	.	4.18	3.29	0.37713	.	.	.	.	.	T	0.57636	0.2067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51919	-0.8644	4	.	.	.	-25.111	8.093	0.30811	0.2648:0.0:0.7352:0.0	.	.	.	.	Y	60;155	.	.	H	-	1	0	NCOR2	123390806	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	1.859000	0.39418	0.731000	0.32448	0.491000	0.48974	CAT		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		14	28	0	0	0	1	0	14	28				
DNAH3	55567	broad.mit.edu	37	16	21060963	21060963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21060963G>A	ENST00000261383.3	-	31	4387	c.4388C>T	c.(4387-4389)gCt>gTt	p.A1463V	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1463V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1463	AAA 1. {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)		CTTCCCCATAGCTTTGTAATC	0.507																																						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.(4387-4389)gCt>gTt		dynein, axonemal, heavy chain 3							100.0	91.0	94.0					16																	21060963		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.chr16:21060963G>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.4388C>T	16.37:g.21060963G>A	ENSP00000261383:p.Ala1463Val					DNAH3_ENST00000415178.1_Missense_Mutation_p.A1463V	p.A1463V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	31	4387	-			1463			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4388C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138231	0.94560	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39229	1.09;1.09	5.88	4.93	0.64822	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.71160	0.3307	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79087	-0.1947	10	0.72032	D	0.01	.	16.5269	0.84333	0.0:0.0:0.8683:0.1317	.	1463	Q8TD57	DYH3_HUMAN	V	1463	ENSP00000261383:A1463V;ENSP00000394245:A1463V	ENSP00000261383:A1463V	A	-	2	0	DNAH3	20968464	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.474000	0.97718	1.491000	0.48482	0.561000	0.74099	GCT		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		33	54	0	0	0	1	0	33	54				
LZTS2	84445	broad.mit.edu	37	10	102762580	102762580	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102762580C>T	ENST00000370220.1	+	1	3348	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LZTS2_ENST00000370223.3_Silent_p.F95F					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ATGAGGACTTCCGGACAGAGT	0.627																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)ttC>ttT		leucine zipper, putative tumor suppressor 2							45.0	47.0	46.0					10																	102762580		2203	4300	6503	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102762580C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.285C>T	10.37:g.102762580C>T						LZTS2_ENST00000370223.3_Silent_p.F95F	p.F95F			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	1	3348	+			95			Required for centrosomal localization (By similarity).			Silent	SNP	ENST00000370220.1	37	c.285C>T	CCDS7507.1																																																																																				0.627	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		16	33	0	0	0	1	0	16	33				
LGR4	55366	broad.mit.edu	37	11	27390214	27390214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:27390214C>T	ENST00000379214.4	-	18	2499	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	LGR4_ENST00000389858.4_Missense_Mutation_p.E662K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	686					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GCAGAATATTCCCCTCTATGG	0.438																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(2056-2058)Gaa>Aaa		leucine-rich repeat containing G protein-coupled receptor 4							91.0	82.0	85.0					11																	27390214		2202	4299	6501	SO:0001583	missense	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390214C>T	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2056G>A	11.37:g.27390214C>T	ENSP00000368516:p.Glu686Lys					LGR4_ENST00000389858.4_Missense_Mutation_p.E662K	p.E686K	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2499	-			686					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	c.2056G>A	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077683	0.36662	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.37915	1.23;1.17	5.56	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.377691	0.31909	N	0.006867	T	0.27027	0.0662	L	0.33245	0.995	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.19391	0.025;0.004	T	0.06844	-1.0804	10	0.44086	T	0.13	.	10.7687	0.46310	0.0:0.61:0.3211:0.0689	.	662;686	G5E9B3;Q9BXB1	.;LGR4_HUMAN	K	686;662	ENSP00000368516:E686K;ENSP00000374508:E662K	ENSP00000368516:E686K	E	-	1	0	LGR4	27346790	0.991000	0.36638	0.649000	0.29536	0.880000	0.50808	3.318000	0.51975	0.558000	0.29135	0.650000	0.86243	GAA		0.438	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		32	40	0	0	0	1	0	32	40				
PRDM13	59336	broad.mit.edu	37	6	100061805	100061805	+	Missense_Mutation	SNP	G	G	A	rs550792294		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:100061805G>A	ENST00000369215.4	+	4	1599	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	432					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GTTGCCCCTCGAGCGCTGCGC	0.736													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10134	0.0		0.0	False		,,,				2504	0.0					ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1324-1326)Gag>Aag		PR domain containing 13							11.0	13.0	12.0					6																	100061805		1570	3506	5076	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061805G>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1294G>A	6.37:g.100061805G>A	ENSP00000358217:p.Glu432Lys					PRDM13_ENST00000369215.4_Missense_Mutation_p.E432K	p.E442K	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1585	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	432					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1324G>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149031	0.57151	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.15256	2.44;2.44	3.59	3.59	0.41128	.	0.000000	0.40469	N	0.001093	T	0.07954	0.0199	L	0.34521	1.04	0.42899	D	0.994227	P	0.48162	0.906	B	0.41332	0.354	T	0.10405	-1.0631	10	0.62326	D	0.03	-21.3718	14.1586	0.65432	0.0:0.0:1.0:0.0	.	432	Q9H4Q3	PRD13_HUMAN	K	432;442	ENSP00000358217:E432K;ENSP00000358216:E442K	ENSP00000358216:E442K	E	+	1	0	PRDM13	100168526	1.000000	0.71417	0.940000	0.37924	0.213000	0.24496	6.622000	0.74233	1.833000	0.53350	0.561000	0.74099	GAG		0.736	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			13	2	0	0	0	1	0	13	2				
F8	2157	broad.mit.edu	37	X	154213059	154213059	+	Missense_Mutation	SNP	T	T	G	rs387906436		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154213059T>G	ENST00000360256.4	-	6	890	c.690A>C	c.(688-690)gaA>gaC	p.E230D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	230	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTTTGTTTCTGAGTGCC	0.493																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(688-690)gaA>gaC		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						153.0	120.0	131.0					X																	154213059		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154213059T>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.690A>C	X.37:g.154213059T>G	ENSP00000353393:p.Glu230Asp						p.E230D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			6	890	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		230			F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.690A>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866176	0.32977	.	.	ENSG00000185010	ENST00000360256;ENST00000423959	D;D	0.98747	-5.11;-5.11	4.34	1.8	0.24995	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.285199	0.32640	N	0.005823	D	0.95284	0.8470	L	0.32530	0.975	0.09310	N	0.999993	P	0.44521	0.837	B	0.43413	0.419	D	0.90614	0.4554	10	0.23891	T	0.37	-0.0972	4.2297	0.10597	0.0:0.1164:0.2017:0.6819	.	230	P00451	FA8_HUMAN	D	230;195	ENSP00000353393:E230D;ENSP00000409446:E195D	ENSP00000353393:E230D	E	-	3	2	F8	153866253	0.776000	0.28616	0.536000	0.28039	0.559000	0.35586	1.202000	0.32271	0.385000	0.24970	-0.377000	0.06932	GAA		0.493	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			64	81	0	0	0	1	0	64	81				
UNC45A	55898	broad.mit.edu	37	15	91490132	91490132	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91490132C>T	ENST00000418476.2	+	10	1528	c.1488C>T	c.(1486-1488)atC>atT	p.I496I	UNC45A_ENST00000394275.2_Silent_p.I481I	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	496					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATCCGCATCCGGGCGCTAG	0.637																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1441-1443)atC>atT		unc-45 homolog A (C. elegans)							51.0	49.0	49.0					15																	91490132		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91490132C>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1488C>T	15.37:g.91490132C>T						UNC45A_ENST00000418476.2_Silent_p.I496I	p.I481I	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		13	2278	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		496					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.1443C>T	CCDS10367.1																																																																																				0.637	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		16	43	0	0	0	1	0	16	43				
FAM178A	55719	broad.mit.edu	37	10	102684487	102684487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102684487C>T	ENST00000238961.4	+	5	2271	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	FAM178A_ENST00000370271.3_Missense_Mutation_p.P577S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P577S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	577						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AGATAAAGCCCCTTCAGAAGG	0.458																																						ENST00000238961.3																			0											c.(1729-1731)Cct>Tct		family with sequence similarity 178, member A							84.0	83.0	83.0					10																	102684487		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102684487C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1729C>T	10.37:g.102684487C>T	ENSP00000238961:p.Pro577Ser					FAM178A_ENST00000370271.3_Missense_Mutation_p.P577S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P577S	p.P577S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1877	+			577					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1729C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763167	0.31228	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.61980	0.06;0.71;0.67	4.13	4.13	0.48395	.	0.166996	0.29009	N	0.013438	T	0.65333	0.2681	N	0.24115	0.695	0.33040	D	0.53128	D;D;D;D	0.89917	1.0;0.996;0.996;1.0	D;D;D;D	0.87578	0.998;0.991;0.991;0.998	T	0.71048	-0.4705	10	0.48119	T	0.1	-15.7056	12.1923	0.54278	0.0:1.0:0.0:0.0	.	226;577;577;577	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	S	577	ENSP00000359294:P577S;ENSP00000238961:P577S;ENSP00000359292:P577S	ENSP00000238961:P577S	P	+	1	0	FAM178A	102674477	0.001000	0.12720	1.000000	0.80357	0.353000	0.29299	-0.321000	0.08018	2.604000	0.88044	0.655000	0.94253	CCT		0.458	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			19	44	0	0	0	1	0	19	44				
MS4A14	84689	broad.mit.edu	37	11	60184305	60184305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184305C>T	ENST00000300187.6	+	5	2141	c.1864C>T	c.(1864-1866)Caa>Taa	p.Q622*	MS4A14_ENST00000395005.2_Nonsense_Mutation_p.Q605*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.Q510*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.Q655*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	622	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGACAATTCCAAAATGTTCA	0.463																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1864-1866)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 14							60.0	56.0	58.0					11																	60184305		2203	4300	6503	SO:0001587	stop_gained	84689					integral to membrane	receptor activity	g.chr11:60184305C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1864C>T	11.37:g.60184305C>T	ENSP00000300187:p.Gln622*					MS4A14_ENST00000395005.2_Nonsense_Mutation_p.Q605*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.Q655*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.Q510*	p.Q622*	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	2141	+			622			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	ENST00000300187.6	37	c.1864C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809273	0.70797	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	.	.	.	3.77	-2.76	0.05896	.	6.738790	0.00887	N	0.002185	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-4.0398	9.3263	0.37995	0.646:0.2264:0.1276:0.0	.	.	.	.	X	510;622;605;655	.	ENSP00000300187:Q622X	Q	+	1	0	MS4A14	59940881	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.179000	0.01259	-0.720000	0.04935	0.563000	0.77884	CAA		0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			23	26	0	0	0	1	0	23	26				
TEAD4	7004	broad.mit.edu	37	12	3149530	3149530	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149530G>A	ENST00000397122.2	+	11	1089		c.e11-1		TEAD4_ENST00000358409.2_Splice_Site|RP11-253E3.3_ENST00000513358.3_RNA|TEAD4_ENST00000359864.2_Splice_Site	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4						gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCTCCCACAGGTGGTCACCA	0.582																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.e13-1		TEA domain family member 4							68.0	64.0	65.0					12																	3149530		2203	4300	6503	SO:0001630	splice_region_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3149530G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.805-1G>A	12.37:g.3149530G>A						TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site		NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		13	1381	+	Ovarian(42;0.211)							H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Splice_Site	SNP	ENST00000397122.2	37		CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992418	0.54041	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	.	.	.	4.69	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7066	0.34358	0.0816:0.0:0.7666:0.1518	.	.	.	.	.	-1	.	.	.	+	.	.	TEAD4	3019791	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	4.775000	0.62346	1.157000	0.42530	0.655000	0.94253	.		0.582	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	Intron	18	30	0	0	0	1	0	18	30				
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478																																						ENST00000332836.2																			1	Substitution - Missense(1)	p.S218F(1)	large_intestine(1)	NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(652-654)tCc>tTc		NLR family, pyrin domain containing 9							31.0	32.0	32.0					19																	56244544		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244544G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.653C>T	19.37:g.56244544G>A	ENSP00000331857:p.Ser218Phe						p.S218F	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	680	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	218			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.653C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795382	0.31777	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.64618	-0.11	2.46	2.46	0.29980	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78259	0.4255	M	0.87682	2.9	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63699	-0.6578	9	0.87932	D	0	.	6.6558	0.22986	0.0:0.0:0.7174:0.2826	.	218	Q7RTR0	NALP9_HUMAN	F	218	ENSP00000331857:S218F	ENSP00000331857:S218F	S	-	2	0	NLRP9	60936356	0.000000	0.05858	0.048000	0.18961	0.008000	0.06430	-0.315000	0.08081	1.731000	0.51592	0.644000	0.83932	TCC		0.478	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		16	24	0	0	0	1	0	16	24				
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373427G>A	ENST00000301295.6	+	5	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_ENST00000346986.5_Silent_p.L696L|NLRP4_ENST00000587891.1_Silent_p.L621L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	696					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2086-2088)ttG>ttA		NLR family, pyrin domain containing 4							158.0	149.0	152.0					19																	56373427		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56373427G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2088G>A	19.37:g.56373427G>A						NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L	p.L696L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2510	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	696					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2088G>A	CCDS12936.1																																																																																				0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		36	61	0	0	0	1	0	36	61				
ABCC8	6833	broad.mit.edu	37	11	17498277	17498277	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:17498277C>T	ENST00000389817.3	-	1	115	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	ABCC8_ENST00000302539.4_Missense_Mutation_p.R16Q			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	16					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)	CTGGTCCACCCGGTAGGCGGC	0.682																																						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.(46-48)cGg>cAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						28.0	28.0	28.0					11																	17498277		2200	4291	6491	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.chr11:17498277C>T	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.47G>A	11.37:g.17498277C>T	ENSP00000374467:p.Arg16Gln					ABCC8_ENST00000389817.3_Missense_Mutation_p.R16Q	p.R16Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	1	172	-			16					A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.47G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	c	17.56	3.419252	0.62622	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91351	-2.83;-2.83	4.09	3.01	0.34805	.	0.187486	0.33834	U	0.004520	T	0.76681	0.4021	N	0.14661	0.345	0.27623	N	0.948277	B;B	0.24092	0.097;0.097	B;B	0.20577	0.018;0.03	T	0.60929	-0.7165	10	0.21540	T	0.41	.	3.1363	0.06439	0.0:0.5052:0.0:0.4948	.	16;16	B7Z4N0;Q09428	.;ABCC8_HUMAN	Q	16;16;30	ENSP00000374467:R16Q;ENSP00000303960:R16Q	ENSP00000303960:R16Q	R	-	2	0	ABCC8	17454853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.881000	0.56152	1.828000	0.53243	0.443000	0.29094	CGG		0.682	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		7	12	0	0	0	1	0	7	12				
GDF2	2658	broad.mit.edu	37	10	48413933	48413933	+	Missense_Mutation	SNP	G	G	A	rs141580368		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48413933G>A	ENST00000249598.1	-	2	1094	c.935C>T	c.(934-936)tCg>tTg	p.S312L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	312					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGCTAAAGTCGACCCCGCAGC	0.617																																						ENST00000249598.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(934-936)tCg>tTg		growth differentiation factor 2		G	LEU/SER	0,4406		0,0,2203	60.0	56.0	57.0		935	3.6	0.0	10	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	GDF2	NM_016204.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	312/430	48413933	1,13005	2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48413933G>A	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.935C>T	10.37:g.48413933G>A	ENSP00000249598:p.Ser312Leu						p.S312L	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			2	1094	-			312					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.935C>T	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653581	0.14580	0.0	1.16E-4	ENSG00000128802	ENST00000249598	T	0.79141	-1.24	5.46	3.63	0.41609	.	0.693176	0.15019	N	0.285140	T	0.66655	0.2811	L	0.51422	1.61	0.09310	N	1	B	0.29766	0.256	B	0.18871	0.023	T	0.52931	-0.8509	10	0.28530	T	0.3	.	7.0071	0.24842	0.1526:0.1414:0.706:0.0	.	312	Q9UK05	GDF2_HUMAN	L	312	ENSP00000249598:S312L	ENSP00000249598:S312L	S	-	2	0	GDF2	48033939	0.045000	0.20229	0.001000	0.08648	0.004000	0.04260	0.641000	0.24720	0.695000	0.31675	0.467000	0.42956	TCG		0.617	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		33	46	0	0	0	1	0	33	46				
VRTN	55237	broad.mit.edu	37	14	74825001	74825001	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74825001C>T	ENST00000256362.4	+	2	1756	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	505					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGCCCCTGTCCCGTTGGCAGA	0.662																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1513-1515)tcC>tcT		vertebrae development associated							46.0	52.0	50.0					14																	74825001		2197	4290	6487	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825001C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1515C>T	14.37:g.74825001C>T							p.S505S	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1756	+			505					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1515C>T	CCDS9830.1																																																																																				0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		41	43	0	0	0	1	0	41	43				
COL11A1	1301	broad.mit.edu	37	1	103453203	103453203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103453203G>A	ENST00000370096.3	-	30	2800	c.2488C>T	c.(2488-2490)Caa>Taa	p.Q830*	COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791*|COL11A1_ENST00000358392.2_Nonsense_Mutation_p.Q842*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	830	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q842*(1)|p.Q830*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTCCTGCTTGACCTGAAGGA	0.463																																						ENST00000358392.2																			2	Substitution - Nonsense(2)	p.Q842*(1)|p.Q830*(1)	lung(2)	NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2524-2526)Caa>Taa		collagen, type XI, alpha 1							87.0	83.0	84.0					1																	103453203		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103453203G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2488C>T	1.37:g.103453203G>A	ENSP00000359114:p.Gln830*					COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q830*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791*	p.Q842*	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	30	2841	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	830			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.2524C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	40	8.343288	0.98769	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	4.39	4.39	0.52855	.	0.222725	0.38005	N	0.001846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.507	0.87748	0.0:0.0:1.0:0.0	.	.	.	.	X	830;842;791;714	.	ENSP00000302551:Q791X	Q	-	1	0	COL11A1	103225791	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.972000	0.70448	2.417000	0.82017	0.460000	0.39030	CAA		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	46	0	0	0	1	0	15	46				
FAM179A	165186	broad.mit.edu	37	2	29245103	29245103	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29245103G>A	ENST00000379558.4	+	11	1791	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.K425K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	480										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCCTGTAAGGAGTTGAGGC	0.542																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1438-1440)aaG>aaA		family with sequence similarity 179, member A							100.0	104.0	102.0					2																	29245103		2028	4192	6220	SO:0001819	synonymous_variant	165186						binding	g.chr2:29245103G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1440G>A	2.37:g.29245103G>A						FAM179A_ENST00000403861.2_Silent_p.K425K|FAM179A_ENST00000465300.1_3'UTR	p.K480K	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			11	1791	+			480					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.1440G>A	CCDS1769.2																																																																																				0.542	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		28	48	0	0	0	1	0	28	48				
RELN	5649	broad.mit.edu	37	7	103243847	103243847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:103243847C>T	ENST00000428762.1	-	24	3396	c.3237G>A	c.(3235-3237)tgG>tgA	p.W1079*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W1079*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1079*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1079					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTCAGACTCCCAGCCATTCT	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3235-3237)tgG>tgA		reelin							113.0	108.0	110.0					7																	103243847		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243847C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3237G>A	7.37:g.103243847C>T	ENSP00000392423:p.Trp1079*					RELN_ENST00000343529.5_Nonsense_Mutation_p.W1079*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1079*	p.W1079*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3396	-			1079					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.3237G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	43	10.503573	0.99417	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.45	5.45	0.79879	.	0.074090	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	.	.	.	X	1079	.	ENSP00000345694:W1079X	W	-	3	0	RELN	103031083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.452000	0.60054	2.550000	0.86006	0.655000	0.94253	TGG		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		45	85	0	0	0	1	0	45	85				
OGT	8473	broad.mit.edu	37	X	70787526	70787526	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70787526G>A	ENST00000373719.3	+	20	2983	c.2766G>A	c.(2764-2766)ttG>ttA	p.L922L	OGT_ENST00000373701.3_Silent_p.L912L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	922					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ATGTCTGCTTGGACACTCCAC	0.527																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2764-2766)ttG>ttA		O-linked N-acetylglucosamine (GlcNAc) transferase							96.0	70.0	79.0					X																	70787526		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70787526G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2766G>A	X.37:g.70787526G>A						OGT_ENST00000373701.3_Silent_p.L912L	p.L922L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			20	2983	+	Renal(35;0.156)		922					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2766G>A	CCDS14414.1																																																																																				0.527	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		26	15	0	0	0	1	0	26	15				
PCDHA8	56140	broad.mit.edu	37	5	140223143	140223143	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223143G>A	ENST00000531613.1	+	1	2237	c.2237G>A	c.(2236-2238)gGg>gAg	p.G746E	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G746E|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	746					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGGTGGGGAGCTGGTCA	0.662																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2236-2238)gGg>gAg									56.0	55.0	56.0					5																	140223143		2196	4261	6457	SO:0001583	missense	56140							g.chr5:140223143G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2237G>A	5.37:g.140223143G>A	ENSP00000434655:p.Gly746Glu					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G746E|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.G746E	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2237	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2237G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981551	0.34942	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.26067	1.76;1.76	3.18	1.34	0.21922	.	0.000000	0.37219	U	0.002198	T	0.40619	0.1124	M	0.91561	3.22	0.25878	N	0.983627	P;P	0.45594	0.862;0.814	B;P	0.46510	0.38;0.519	T	0.39860	-0.9593	10	0.62326	D	0.03	.	8.8473	0.35179	0.1899:0.0:0.8101:0.0	.	746;746	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	E	746	ENSP00000434655:G746E;ENSP00000367363:G746E	ENSP00000367363:G746E	G	+	2	0	PCDHA8	140203327	0.928000	0.31464	0.999000	0.59377	0.431000	0.31685	1.292000	0.33342	0.181000	0.19994	0.557000	0.71058	GGG		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		15	31	0	0	0	1	0	15	31				
WIZ	58525	broad.mit.edu	37	19	15535766	15535766	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535766G>A	ENST00000389282.4	-	8	4471	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	WIZ_ENST00000599910.2_Silent_p.L737L|WIZ_ENST00000545156.1_Silent_p.L734L|WIZ_ENST00000263381.7_Silent_p.L563L|WIZ_ENST00000599686.3_Silent_p.L604L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1420					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AACTGCCGCAGGTGTGCCCGT	0.672																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4258-4260)Ctg>Ttg		widely interspaced zinc finger motifs							11.0	13.0	12.0					19																	15535766		2055	4194	6249	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15535766G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4258C>T	19.37:g.15535766G>A						WIZ_ENST00000545156.1_Silent_p.L734L|WIZ_ENST00000263381.6_Silent_p.L563L|WIZ_ENST00000599910.1_Silent_p.L737L|WIZ_ENST00000599686.2_Silent_p.L604L	p.L1420L			O95785	WIZ_HUMAN			8	4471	-			1420					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.4258C>T																																																																																					0.672	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		7	6	0	0	0	1	0	7	6				
OR5AU1	390445	broad.mit.edu	37	14	21623849	21623849	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:21623849G>A	ENST00000304418.3	-	1	373	c.336C>T	c.(334-336)tcC>tcT	p.S112S		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		TCTTCAGGAGGGAGTACATGG	0.542																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(334-336)tcC>tcT		olfactory receptor, family 5, subfamily AU, member 1							95.0	78.0	84.0					14																	21623849		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623849G>A	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.336C>T	14.37:g.21623849G>A							p.S112S	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	373	-	all_cancers(95;0.00238)		112					B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.336C>T	CCDS32042.1																																																																																				0.542	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			20	31	0	0	0	1	0	20	31				
L1CAM	3897	broad.mit.edu	37	X	153133564	153133564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133564C>T	ENST00000370060.1	-	15	1906	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	L1CAM_ENST00000370055.1_Missense_Mutation_p.D568N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D573N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D575N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D575N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D573N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D568N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	573	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCGCCCATCCTCTATGAAG	0.612																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1717-1719)Gat>Aat		L1 cell adhesion molecule							62.0	53.0	56.0					X																	153133564		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133564C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1717G>A	X.37:g.153133564C>T	ENSP00000359077:p.Asp573Asn					L1CAM_ENST00000370055.1_Missense_Mutation_p.D568N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D575N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D568N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D575N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D573N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D573N	p.D573N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			15	1906	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		573			Ig-like C2-type 6.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1717G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002179	0.35320	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.67	3.8	0.43715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.408605	0.22063	N	0.065153	T	0.63721	0.2535	N	0.17474	0.49	0.09310	N	0.999998	B;B;B	0.30146	0.228;0.061;0.27	B;B;B	0.36845	0.104;0.072;0.234	T	0.56721	-0.7932	10	0.46703	T	0.11	.	7.2735	0.26271	0.1684:0.74:0.0:0.0916	.	568;573;573	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	573;575;573;575;568;568;573	ENSP00000359077:D573N;ENSP00000438430:D575N;ENSP00000359074:D573N;ENSP00000439645:D575N;ENSP00000354712:D568N;ENSP00000359072:D568N;ENSP00000355380:D573N	ENSP00000355380:D573N	D	-	1	0	L1CAM	152786758	0.000000	0.05858	0.057000	0.19452	0.873000	0.50193	0.405000	0.21015	1.159000	0.42565	0.529000	0.55759	GAT		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		24	37	0	0	0	1	0	24	37				
GUSB	2990	broad.mit.edu	37	7	65441107	65441107	+	Silent	SNP	G	G	A	rs571704452		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441107G>A	ENST00000304895.4	-	5	937	c.807C>T	c.(805-807)gtC>gtT	p.V269V	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.V269V|GUSB_ENST00000421103.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	269					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CATTCGCCACGACTTTGTTTT	0.522																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(805-807)gtC>gtT		glucuronidase, beta							84.0	68.0	73.0					7																	65441107		2203	4300	6503	SO:0001819	synonymous_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65441107G>A	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.807C>T	7.37:g.65441107G>A						GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.V269V	p.V269V	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			5	937	-			269					B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	c.807C>T	CCDS5530.1																																																																																				0.522	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		18	58	0	0	0	1	0	18	58				
FAT3	120114	broad.mit.edu	37	11	92085508	92085508	+	Nonsense_Mutation	SNP	G	G	A	rs573991535		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085508G>A	ENST00000298047.6	+	1	247	c.230G>A	c.(229-231)tGg>tAg	p.W77*	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.W77L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTATCCTGGGATATCAAA	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - Missense(2)	p.W77L(2)	lung(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(229-231)tGg>tAg		FAT atypical cadherin 3							87.0	87.0	87.0					11																	92085508		1910	4124	6034	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085508G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.230G>A	11.37:g.92085508G>A	ENSP00000298047:p.Trp77*	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*	p.W77*			Q8TDW7	FAT3_HUMAN			1	247	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	77			Cadherin 1.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.230G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.139803	0.97320	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000298047:W77X	W	+	2	0	FAT3	91725156	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.582000	0.74049	2.696000	0.92011	0.655000	0.94253	TGG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	32	0	0	0	1	0	15	32				
ARFGEF1	10565	broad.mit.edu	37	8	68145181	68145181	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68145181C>T	ENST00000262215.3	-	23	3679		c.e23-1		ARFGEF1_ENST00000520381.1_Splice_Site|ARFGEF1_ENST00000518230.1_Splice_Site	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTCCTCCAACTACCACACAT	0.348																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e23-1		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							151.0	140.0	144.0					8																	68145181		2203	4300	6503	SO:0001630	splice_region_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68145181C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3290-1G>A	8.37:g.68145181C>T						ARFGEF1_ENST00000518230.1_Splice_Site|ARFGEF1_ENST00000520381.1_Splice_Site		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		23	3679	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)						Q9NV46|Q9UFV2|Q9UNL0	Splice_Site	SNP	ENST00000262215.3	37		CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624004	0.87560	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARFGEF1	68307735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.760000	0.85248	2.482000	0.83794	0.557000	0.71058	.		0.348	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	Intron	41	74	0	0	0	1	0	41	74				
ESYT3	83850	broad.mit.edu	37	3	138195306	138195306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138195306G>A	ENST00000389567.4	+	22	2782	c.2596G>A	c.(2596-2598)Gaa>Aaa	p.E866K	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	866					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTTATCAAAAGAAGATCTGAT	0.348																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(2596-2598)Gaa>Aaa		extended synaptotagmin-like protein 3							148.0	137.0	141.0					3																	138195306		1857	4098	5955	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138195306G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2596G>A	3.37:g.138195306G>A	ENSP00000374218:p.Glu866Lys					ESYT3_ENST00000460133.1_3'UTR	p.E866K	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			22	2782	+			866					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.2596G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753235	0.49362	.	.	ENSG00000158220	ENST00000389567	T	0.07800	3.16	4.95	4.05	0.47172	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.742997	0.11491	U	0.558778	T	0.10294	0.0252	L	0.42245	1.32	0.80722	D	1	B	0.20550	0.046	B	0.26202	0.067	T	0.09378	-1.0677	10	0.31617	T	0.26	-17.0671	12.6828	0.56932	0.0:0.1743:0.8257:0.0	.	866	A0FGR9	ESYT3_HUMAN	K	866	ENSP00000374218:E866K	ENSP00000374218:E866K	E	+	1	0	ESYT3	139677996	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.918000	0.40006	1.274000	0.44362	0.555000	0.69702	GAA		0.348	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		19	41	0	0	0	1	0	19	41				
LOC645752	645752	broad.mit.edu	37	15	78208921	78208921	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:78208921C>T	ENST00000565869.1	+	0	58				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							ATGTTCTCCTCCATCTCCTGT	0.622																																						ENST00000565869.1																			0																																																			645752							g.chr15:78208921C>T																													15.37:g.78208921C>T														0	58	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.622	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			24	62	0	0	0	1	0	24	62				
OR2M5	127059	broad.mit.edu	37	1	248308465	248308465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248308465C>T	ENST00000366476.1	+	1	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGGGAGAATCAGACCTTCAA	0.423																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(16-18)Cag>Tag		olfactory receptor, family 2, subfamily M, member 5							203.0	200.0	201.0					1																	248308465		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308465C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.16C>T	1.37:g.248308465C>T	ENSP00000355432:p.Gln6*						p.Q6*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	16	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		6						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.16C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	a	24.4	4.523977	0.85600	.	.	ENSG00000162727	ENST00000366476	.	.	.	2.86	-3.07	0.05363	.	0.596486	0.12662	U	0.449510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.411	0.27017	0.4535:0.3981:0.1484:0.0	.	.	.	.	X	6	.	ENSP00000355432:Q6X	Q	+	1	0	OR2M5	246375088	0.000000	0.05858	0.001000	0.08648	0.187000	0.23431	-0.657000	0.05335	-0.320000	0.08640	-1.912000	0.00520	CAG		0.423	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		126	59	0	0	0	1	0	126	59				
GRIK1	2897	broad.mit.edu	37	21	31015182	31015182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015182C>T	ENST00000399907.1	-	7	1473	c.1062G>A	c.(1060-1062)tgG>tgA	p.W354*	GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399914.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTCCGAGGCGCCATGGCTTAT	0.577																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1060-1062)tgG>tgA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						102.0	81.0	88.0					21																	31015182		2203	4300	6503	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31015182C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1062G>A	21.37:g.31015182C>T	ENSP00000382791:p.Trp354*					GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*	p.W354*			P39086	GRIK1_HUMAN			7	1583	-			354					Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000399907.1	37	c.1062G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	38	6.911038	0.97928	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.478	0.90800	0.0:1.0:0.0:0.0	.	.	.	.	X	354;354;354;354;354;298;354;354;354;354	.	ENSP00000311646:W354X	W	-	3	0	GRIK1	29937053	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.251000	0.78297	2.688000	0.91661	0.655000	0.94253	TGG		0.577	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			31	14	0	0	0	1	0	31	14				
COL1A2	1278	broad.mit.edu	37	7	94053707	94053707	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053707C>T	ENST00000297268.6	+	41	3096	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	875					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCTGGGTCTCCCTGGCTCGA	0.468										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2623-2625)ctC>ctT		collagen, type I, alpha 2	Collagenase(DB00048)						161.0	151.0	155.0					7																	94053707		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94053707C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2625C>T	7.37:g.94053707C>T		HNSCC(75;0.22)					p.L875L	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3096	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		875					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2625C>T	CCDS34682.1																																																																																				0.468	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		29	97	0	0	0	1	0	29	97				
KMT2D	8085	broad.mit.edu	37	12	49420672	49420672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49420672G>A	ENST00000301067.7	-	48	15076	c.15077C>T	c.(15076-15078)cCg>cTg	p.P5026L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5026					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATGTCTCGCGGTACCTTGTC	0.622																																						ENST00000301067.7																			0											c.(15076-15078)cCg>cTg		lysine (K)-specific methyltransferase 2D							57.0	62.0	60.0					12																	49420672		2153	4254	6407	SO:0001583	missense	8085							g.chr12:49420672G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15077C>T	12.37:g.49420672G>A	ENSP00000301067:p.Pro5026Leu						p.P5026L	NM_003482.3	NP_003473.3					48	15076	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15077C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341097	0.41498	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	4.34	4.34	0.51931	.	0.000000	0.38058	N	0.001838	D	0.85031	0.5604	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86975	0.2100	10	0.87932	D	0	.	16.1502	0.81611	0.0:0.0:1.0:0.0	.	5026	O14686	MLL2_HUMAN	L	5026	ENSP00000301067:P5026L	ENSP00000301067:P5026L	P	-	2	0	MLL2	47706939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.640000	0.98453	2.425000	0.82216	0.655000	0.94253	CCG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			34	48	0	0	0	1	0	34	48				
RP1	6101	broad.mit.edu	37	8	55538529	55538529	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55538529T>C	ENST00000220676.1	+	4	2235	c.2087T>C	c.(2086-2088)cTt>cCt	p.L696P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	696					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGGAATTCTTAATAAGAAT	0.358																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2086-2088)cTt>cCt		retinitis pigmentosa 1 (autosomal dominant)							41.0	41.0	41.0					8																	55538529		2203	4297	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538529T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2087T>C	8.37:g.55538529T>C	ENSP00000220676:p.Leu696Pro						p.L696P	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2235	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	696						Missense_Mutation	SNP	ENST00000220676.1	37	c.2087T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.812248	0.00600	.	.	ENSG00000104237	ENST00000220676	T	0.20738	2.05	5.93	-2.47	0.06442	.	0.957621	0.08656	N	0.913154	T	0.07503	0.0189	N	0.04203	-0.255	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.33007	-0.9885	10	0.36615	T	0.2	.	2.4158	0.04436	0.1708:0.1663:0.1574:0.5055	.	696	P56715	RP1_HUMAN	P	696	ENSP00000220676:L696P	ENSP00000220676:L696P	L	+	2	0	RP1	55701082	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.043000	0.12043	-0.118000	0.11851	-0.462000	0.05337	CTT		0.358	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		18	22	0	0	0	1	0	18	22				
ARID5A	10865	broad.mit.edu	37	2	97217885	97217885	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:97217885C>T	ENST00000357485.3	+	7	1698	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	ARID5A_ENST00000454558.2_Silent_p.A472A	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	540					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTCCTGGCCACCGCAGGCC	0.697																																						ENST00000454558.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(1414-1416)gcC>gcT		AT rich interactive domain 5A (MRF1-like)							68.0	77.0	74.0					2																	97217885		2203	4299	6502	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217885C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1620C>T	2.37:g.97217885C>T						ARID5A_ENST00000357485.3_Silent_p.A540A	p.A472A			Q03989	ARI5A_HUMAN			7	2593	+			540					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.1416C>T	CCDS33251.1																																																																																				0.697	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		66	115	0	0	0	1	0	66	115				
NTM	50863	broad.mit.edu	37	11	132016341	132016341	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:132016341C>T	ENST00000374786.1	+	2	812	c.333C>T	c.(331-333)ggC>ggT	p.G111G	NTM_ENST00000425719.2_Silent_p.G111G|NTM_ENST00000427481.2_Silent_p.G102G|NTM_ENST00000539799.1_Silent_p.G111G|NTM_ENST00000374791.3_Silent_p.G111G|NTM_ENST00000374784.1_Silent_p.G111G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	111	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGAGGGCCCTTACACCT	0.582																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(331-333)ggC>ggT		neurotrimin							168.0	116.0	134.0					11																	132016341		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016341C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.333C>T	11.37:g.132016341C>T						NTM_ENST00000374784.1_Silent_p.G111G|NTM_ENST00000539799.1_Silent_p.G111G|NTM_ENST00000427481.2_Silent_p.G102G|NTM_ENST00000425719.2_Silent_p.G111G|NTM_ENST00000374791.3_Silent_p.G111G	p.G111G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			2	812	+			111			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.333C>T	CCDS8491.1																																																																																				0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		20	43	0	0	0	1	0	20	43				
LHFPL2	10184	broad.mit.edu	37	5	77805827	77805827	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805827G>A	ENST00000515007.2	-	2	520	c.210C>T	c.(208-210)aaC>aaT	p.N70N	LHFPL2_ENST00000380345.2_Silent_p.N70N			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	70						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GCACCCCTGGGTTCCGGATGC	0.726																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(208-210)aaC>aaT		lipoma HMGIC fusion partner-like 2							15.0	17.0	16.0					5																	77805827		2200	4298	6498	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77805827G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.210C>T	5.37:g.77805827G>A						LHFPL2_ENST00000515007.2_Silent_p.N70N	p.N70N	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	885	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	70					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.210C>T	CCDS4042.1																																																																																				0.726	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		11	9	0	0	0	1	0	11	9				
FCRL5	83416	broad.mit.edu	37	1	157516741	157516741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157516741A>G	ENST00000361835.3	-	3	456	c.299T>C	c.(298-300)tTt>tCt	p.F100S	FCRL5_ENST00000368189.3_Missense_Mutation_p.F100S|FCRL5_ENST00000356953.4_Missense_Mutation_p.F100S|FCRL5_ENST00000368188.2_Missense_Mutation_p.F100S|FCRL5_ENST00000368190.3_Missense_Mutation_p.F100S|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	100	Ig-like C2-type 1.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCTGAAGAAAAATCCAAGTG	0.473																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(298-300)tTt>tCt		Fc receptor-like 5							85.0	92.0	90.0					1																	157516741		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516741A>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.299T>C	1.37:g.157516741A>G	ENSP00000354691:p.Phe100Ser					FCRL5_ENST00000368188.2_Missense_Mutation_p.F100S|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.F100S|FCRL5_ENST00000368190.3_Missense_Mutation_p.F100S|FCRL5_ENST00000356953.4_Missense_Mutation_p.F100S	p.F100S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	456	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	100			Ig-like C2-type 1.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.299T>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.280828	0.59758	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189;ENST00000368188	T;T;T;T;T	0.47177	0.85;0.86;0.86;1.15;3.86	4.98	3.83	0.44106	Immunoglobulin subtype (1);Immunoglobulin-like (1);	.	.	.	.	T	0.42539	0.1207	M	0.71581	2.175	0.09310	N	1	P;P;D;B	0.56521	0.562;0.587;0.976;0.05	P;P;P;B	0.56398	0.639;0.573;0.797;0.089	T	0.18840	-1.0324	9	0.28530	T	0.3	.	7.6908	0.28567	0.8996:0.0:0.1004:0.0	.	100;100;100;100	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;FCRL5_HUMAN	S	100	ENSP00000354691:F100S;ENSP00000349434:F100S;ENSP00000357173:F100S;ENSP00000357172:F100S;ENSP00000357171:F100S	ENSP00000349434:F100S	F	-	2	0	FCRL5	155783365	0.396000	0.25262	0.020000	0.16555	0.086000	0.17979	3.986000	0.56937	1.871000	0.54225	0.528000	0.53228	TTT		0.473	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		33	38	0	0	0	1	0	33	38				
NBAS	51594	broad.mit.edu	37	2	15607790	15607790	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607790G>A	ENST00000281513.5	-	18	2041	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NBAS_ENST00000441750.1_Silent_p.S672S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.S672S(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCATTTACTTGGAAAAGTTCA	0.328																																						ENST00000281513.5																			1	Substitution - coding silent(1)	p.S672S(1)	lung(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2014-2016)tcC>tcT		neuroblastoma amplified sequence							95.0	88.0	90.0					2																	15607790		2201	4300	6501	SO:0001819	synonymous_variant	51594							g.chr2:15607790G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2016C>T	2.37:g.15607790G>A						NBAS_ENST00000441750.1_Silent_p.S672S	p.S672S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			18	2041	-			672					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2016C>T	CCDS1685.1																																																																																				0.328	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	16	0	0	0	1	0	6	16				
MUC17	140453	broad.mit.edu	37	7	100686757	100686757	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100686757C>A	ENST00000306151.4	+	3	12124	c.12060C>A	c.(12058-12060)ggC>ggA	p.G4020G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4020					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGCAGAGGCTGCACTACTT	0.527																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12058-12060)ggC>ggA		mucin 17, cell surface associated							274.0	242.0	253.0					7																	100686757		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100686757C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12060C>A	7.37:g.100686757C>A							p.G4020G	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	12124	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4020					O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.12060C>A	CCDS34711.1																																																																																				0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		57	91	1	0	2.30037e-20	1	2.34744e-20	57	91				
KIF21B	23046	broad.mit.edu	37	1	200969700	200969700	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:200969700G>A	ENST00000422435.2	-	11	1819	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	KIF21B_ENST00000461742.2_Silent_p.S501S|KIF21B_ENST00000360529.5_Silent_p.S501S|KIF21B_ENST00000332129.2_Silent_p.S501S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	501					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGGCGCAGGGACTCGTTCA	0.672																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1501-1503)tcC>tcT		kinesin family member 21B							27.0	35.0	32.0					1																	200969700		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969700G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1503C>T	1.37:g.200969700G>A						KIF21B_ENST00000360529.5_Silent_p.S501S|KIF21B_ENST00000422435.2_Silent_p.S501S|KIF21B_ENST00000461742.2_Silent_p.S501S	p.S501S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			11	1819	-			501					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.1503C>T	CCDS58056.1																																																																																				0.672	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		11	27	0	0	0	1	0	11	27				
PCDHGA9	56107	broad.mit.edu	37	5	140783494	140783494	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140783494G>A	ENST00000573521.1	+	1	975	c.975G>A	c.(973-975)ggG>ggA	p.G325G	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	325	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTGGGGGATTGAAAG	0.383																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(973-975)ggG>ggA									148.0	147.0	148.0					5																	140783494		1911	4123	6034	SO:0001819	synonymous_variant	56107							g.chr5:140783494G>A	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.975G>A	5.37:g.140783494G>A						PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.G325G	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	975	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.975G>A	CCDS58981.1																																																																																				0.383	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		36	105	0	0	0	1	0	36	105				
TTN	7273	broad.mit.edu	37	2	179447251	179447251	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179447251C>T	ENST00000591111.1	-	264	61233	c.61009G>A	c.(61009-61011)Gaa>Aaa	p.E20337K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13105K|TTN_ENST00000342992.6_Missense_Mutation_p.E19410K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21978K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13038K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12913K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20337	Fibronectin type-III 47. {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)			AGAGGCGGTTCCCAAGAAAGC	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.(65932-65934)Gaa>Aaa		titin							86.0	80.0	82.0					2																	179447251		1870	4113	5983	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447251C>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.61009G>A	2.37:g.179447251C>T	ENSP00000465570:p.Glu20337Lys					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19410K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20337K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13038K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13105K|TTN_ENST00000460472.2_Missense_Mutation_p.E12913K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.E21978K	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)		314	66156	-			20337			Fibronectin type-III 59.		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.65932G>A		.	.	.	.	.	.	.	.	.	.	C	16.82	3.227954	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.86	4.98	0.66077	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38401	0.1039	N	0.11756	0.17	0.48341	D	0.999636	B;B;B;B	0.15719	0.007;0.007;0.014;0.014	B;B;B;B	0.19391	0.011;0.011;0.025;0.025	T	0.25117	-1.0141	9	0.87932	D	0	.	15.1395	0.72599	0.0:0.9321:0.0:0.0679	.	12913;13038;13105;20337	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	19410;12913;13105;13038;12911	ENSP00000343764:E19410K;ENSP00000434586:E12913K;ENSP00000340554:E13105K;ENSP00000352154:E13038K	ENSP00000340554:E13105K	E	-	1	0	TTN	179155497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.093000	0.71422	1.477000	0.48234	0.655000	0.94253	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	32	0	0	0	1	0	27	32				
MEGF11	84465	broad.mit.edu	37	15	66257437	66257437	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66257437G>A	ENST00000409699.2	-	9	1093	c.921C>T	c.(919-921)ttC>ttT	p.F307F	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000395625.2_Silent_p.F232F|MEGF11_ENST00000288745.3_Silent_p.F232F			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	307					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGAAGGACCCGAAGGGGCACT	0.627																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(919-921)ttC>ttT		multiple EGF-like-domains 11							19.0	18.0	18.0					15																	66257437		2201	4295	6496	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66257437G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.921C>T	15.37:g.66257437G>A						MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000395625.2_Silent_p.F232F|MEGF11_ENST00000288745.3_Silent_p.F232F|MEGF11_ENST00000395614.1_5'UTR	p.F307F			A6BM72	MEG11_HUMAN			9	1093	-			307					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	c.921C>T	CCDS10213.2																																																																																				0.627	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		4	6	0	0	0	1	0	4	6				
BACH2	60468	broad.mit.edu	37	6	90642434	90642434	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:90642434G>A	ENST00000257749.4	-	9	2926	c.2219C>T	c.(2218-2220)aCg>aTg	p.T740M	BACH2_ENST00000343122.3_Missense_Mutation_p.T740M|BACH2_ENST00000537989.1_Missense_Mutation_p.T740M	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	740						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGGAGGCCGTGGGCAAGTC	0.617																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(2218-2220)aCg>aTg		BTB and CNC homology 1, basic leucine zipper transcription factor 2							51.0	52.0	51.0					6																	90642434		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90642434G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2219C>T	6.37:g.90642434G>A	ENSP00000257749:p.Thr740Met					BACH2_ENST00000537989.1_Missense_Mutation_p.T740M|BACH2_ENST00000343122.3_Missense_Mutation_p.T740M	p.T740M	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	9	2926	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	740					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.2219C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893804	0.33442	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.38077	1.16;1.16;1.16	5.51	4.64	0.57946	.	0.635507	0.16829	N	0.197830	T	0.18087	0.0434	L	0.44542	1.39	0.28110	N	0.931054	P	0.35793	0.521	B	0.36666	0.23	T	0.07443	-1.0772	10	0.34782	T	0.22	-15.3334	15.2789	0.73767	0.0:0.17:0.83:0.0	.	740	Q9BYV9	BACH2_HUMAN	M	740	ENSP00000257749:T740M;ENSP00000437473:T740M;ENSP00000345642:T740M	ENSP00000257749:T740M	T	-	2	0	BACH2	90699155	1.000000	0.71417	0.989000	0.46669	0.927000	0.56198	4.480000	0.60243	1.319000	0.45190	0.561000	0.74099	ACG		0.617	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		31	15	0	0	0	1	0	31	15				
GP5	2814	broad.mit.edu	37	3	194118337	194118337	+	Silent	SNP	G	G	A	rs146555099		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:194118337G>A	ENST00000401815.1	-	1	746	c.675C>T	c.(673-675)ttC>ttT	p.F225F	GP5_ENST00000323007.3_Silent_p.F225F			P40197	GPV_HUMAN	glycoprotein V (platelet)	225					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F225F(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GATTTCGGTGGAACTGCAGCT	0.587																																						ENST00000401815.1																			2	Substitution - coding silent(2)	p.F225F(2)	skin(2)	breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(673-675)ttC>ttT		glycoprotein V (platelet)							111.0	118.0	116.0					3																	194118337		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118337G>A	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.675C>T	3.37:g.194118337G>A						GP5_ENST00000323007.3_Silent_p.F225F	p.F225F			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	746	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	225					D1MER9	Silent	SNP	ENST00000401815.1	37	c.675C>T	CCDS3307.1																																																																																				0.587	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		86	135	0	0	0	1	0	86	135				
GLRA1	2741	broad.mit.edu	37	5	151271933	151271933	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:151271933G>A	ENST00000455880.2	-	2	409	c.123C>T	c.(121-123)ttC>ttT	p.F41F	GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Silent_p.F41F			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	41					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCAGGAAATCCGAGG	0.498																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(121-123)ttC>ttT		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						87.0	81.0	83.0					5																	151271933		2203	4300	6503	SO:0001819	synonymous_variant	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151271933G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.123C>T	5.37:g.151271933G>A						GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR	p.F41F	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	415	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	41					B2R6T3|Q14C77|Q6DJV9	Silent	SNP	ENST00000455880.2	37	c.123C>T	CCDS54942.1																																																																																				0.498	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			23	32	0	0	0	1	0	23	32				
GABRA3	2556	broad.mit.edu	37	X	151358325	151358325	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151358325C>G	ENST00000370314.4	-	9	1258	c.1020G>C	c.(1018-1020)tgG>tgC	p.W340C	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.W340C|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGGCTATGAACCAGTCCATGG	0.483																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1018-1020)tgG>tgC		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						87.0	82.0	84.0					X																	151358325		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151358325C>G		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1020G>C	X.37:g.151358325C>G	ENSP00000359337:p.Trp340Cys					GABRA3_ENST00000535043.1_Missense_Mutation_p.W340C|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.W340C	p.W340C	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			9	1258	-	Acute lymphoblastic leukemia(192;6.56e-05)		340					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1020G>C	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839789	0.71488	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.85702	-2.02;-2.02;-2.02	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91442	0.7299	M	0.81682	2.555	0.80722	D	1	D	0.63046	0.992	P	0.60345	0.873	D	0.92511	0.6016	10	0.72032	D	0.01	.	15.8263	0.78709	0.0:1.0:0.0:0.0	.	340	P34903	GBRA3_HUMAN	C	340	ENSP00000359337:W340C;ENSP00000359334:W340C;ENSP00000443527:W340C	ENSP00000359334:W340C	W	-	3	0	GABRA3	151108981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.335000	0.79485	0.597000	0.82753	TGG		0.483	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		51	43	0	0	0	1	0	51	43				
COL27A1	85301	broad.mit.edu	37	9	116930839	116930839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:116930839C>T	ENST00000356083.3	+	3	1395	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	335	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCACTTGATCCCATGCTCCCA	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1003-1005)cCc>cTc		collagen, type XXVII, alpha 1							73.0	78.0	76.0					9																	116930839		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930839C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1004C>T	9.37:g.116930839C>T	ENSP00000348385:p.Pro335Leu						p.P335L	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1395	+			335			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1004C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	c	8.509	0.866003	0.17250	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.92048	-2.59;-2.96	4.3	3.4	0.38934	.	.	.	.	.	D	0.82268	0.5000	N	0.19112	0.55	0.09310	N	0.999996	B;B	0.12013	0.0;0.005	B;B	0.10450	0.001;0.005	T	0.65224	-0.6220	9	0.07030	T	0.85	.	7.9795	0.30175	0.0:0.8886:0.0:0.1114	.	335;282	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	L	335;335;282;282	ENSP00000348385:P335L;ENSP00000391328:P282L	ENSP00000348385:P335L	P	+	2	0	COL27A1	115970660	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.601000	0.36773	1.031000	0.39867	0.457000	0.33378	CCC		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		31	10	0	0	0	1	0	31	10				
BCRP7	100133163	broad.mit.edu	37	22	18846126	18846126	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:18846126G>A	ENST00000412938.1	+	0	3484																											ACTGGCGCACGATGTAGGGCA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846126G>A																												ENST00000412938.1:c.*3481G>A	22.37:g.18846126G>A														0	3484	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	28	0	0	0	1	0	4	28				
PITPNM2	57605	broad.mit.edu	37	12	123482103	123482103	+	Missense_Mutation	SNP	G	G	A	rs143163958		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123482103G>A	ENST00000542749.1	-	9	1304	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000280562.5_Missense_Mutation_p.P414L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P135L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P414L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	414					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCAGCCAGCGGCTGGCTAAC	0.662																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1240-1242)cCg>cTg		phosphatidylinositol transfer protein, membrane-associated 2		G	LEU/PRO	0,4406		0,0,2203	81.0	79.0	80.0		1241	4.2	0.9	12	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PITPNM2	NM_020845.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	414/1350	123482103	1,13005	2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123482103G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1241C>T	12.37:g.123482103G>A	ENSP00000437611:p.Pro414Leu					PITPNM2_ENST00000542749.1_Missense_Mutation_p.P414L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P135L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P414L	p.P414L			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1446	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		414					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1241C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442996	0.43326	0.0	1.16E-4	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47177	2.3;2.3;0.85;2.3	5.07	4.18	0.49190	.	0.640672	0.15127	N	0.279069	T	0.36524	0.0970	L	0.44542	1.39	0.49389	D	0.999787	P;B	0.37824	0.609;0.111	B;B	0.32393	0.145;0.008	T	0.25606	-1.0127	10	0.72032	D	0.01	-34.7729	8.471	0.32986	0.0775:0.0:0.7702:0.1523	.	414;414	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	L	414;414;135;414	ENSP00000280562:P414L;ENSP00000322218:P414L;ENSP00000376223:P135L;ENSP00000437611:P414L	ENSP00000280562:P414L	P	-	2	0	PITPNM2	122048056	1.000000	0.71417	0.916000	0.36221	0.871000	0.50021	4.000000	0.57039	1.136000	0.42199	0.563000	0.77884	CCG		0.662	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		50	130	0	0	0	1	0	50	130				
FOXK1	221937	broad.mit.edu	37	7	4798813	4798813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:4798813C>T	ENST00000328914.4	+	6	1376	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S296F	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AAGTTAGCTTCTGTCCCAGAG	0.687																																						ENST00000328914.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1375-1377)tCt>tTt		forkhead box K1							93.0	96.0	95.0					7																	4798813		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr7:4798813C>T	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1376C>T	7.37:g.4798813C>T	ENSP00000328720:p.Ser459Phe					FOXK1_ENST00000446823.1_Missense_Mutation_p.S296F	p.S459F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	6	1376	+		Ovarian(82;0.0175)	459						Missense_Mutation	SNP	ENST00000328914.4	37	c.1376C>T	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.246605	0.22796	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96232	-3.62;-3.95	5.82	5.82	0.92795	.	0.165870	0.56097	D	0.000033	D	0.96620	0.8897	L	0.46157	1.445	0.19575	N	0.999961	D;D	0.71674	0.981;0.998	P;D	0.64776	0.497;0.929	D	0.92028	0.5631	10	0.54805	T	0.06	.	12.4064	0.55443	0.0:0.9238:0.0:0.0762	.	459;296	P85037;P85037-2	FOXK1_HUMAN;.	F	296;215;459;342	ENSP00000394442:S296F;ENSP00000328720:S459F	ENSP00000328720:S459F	S	+	2	0	FOXK1	4765339	0.999000	0.42202	0.011000	0.14972	0.340000	0.28889	6.085000	0.71343	2.758000	0.94735	0.558000	0.71614	TCT		0.687	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			87	87	0	0	0	1	0	87	87				
PRDM11	56981	broad.mit.edu	37	11	45246289	45246289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:45246289C>T	ENST00000530656.1	+	7	1366	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.R456W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R422W|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	456							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GAAGAAGGTTCGGGAGCTCCA	0.552																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1366-1368)Cgg>Tgg		PR domain containing 11							175.0	186.0	182.0					11																	45246289		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246289C>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1366C>T	11.37:g.45246289C>T	ENSP00000435976:p.Arg456Trp					PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R456W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R422W	p.R456W			Q9NQV5	PRD11_HUMAN			8	1615	+			456					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1366C>T		.	.	.	.	.	.	.	.	.	.	C	17.01	3.280326	0.59758	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.47528	0.84;0.84;0.88	5.68	5.68	0.88126	.	0.000000	0.52532	D	0.000070	T	0.56093	0.1962	L	0.27053	0.805	0.34963	D	0.752375	D	0.89917	1.0	D	0.91635	0.999	T	0.66991	-0.5783	10	0.87932	D	0	-28.1603	13.885	0.63704	0.2675:0.7325:0.0:0.0	.	456	Q9NQV5	PRD11_HUMAN	W	456;456;422	ENSP00000263765:R456W;ENSP00000435976:R456W;ENSP00000394314:R422W	ENSP00000263765:R456W	R	+	1	2	PRDM11	45202865	0.570000	0.26651	0.999000	0.59377	0.797000	0.45037	1.154000	0.31688	2.689000	0.91719	0.655000	0.94253	CGG		0.552	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		96	162	0	0	0	1	0	96	162				
PLCL1	5334	broad.mit.edu	37	2	198950750	198950750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:198950750G>A	ENST00000428675.1	+	2	2907	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E739K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	837					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E739*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGACATCATGGAGCACGTAAC	0.458																																						ENST00000428675.1																			1	Substitution - Nonsense(1)	p.E739*(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2509-2511)Gag>Aag		phospholipase C-like 1	Quinacrine(DB01103)						182.0	153.0	163.0					2																	198950750		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950750G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2509G>A	2.37:g.198950750G>A	ENSP00000402861:p.Glu837Lys					PLCL1_ENST00000437704.2_Missense_Mutation_p.E739K	p.E837K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	2907	+			837					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2509G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716803	0.30413	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.13538	2.58;2.58	5.41	5.41	0.78517	C2 calcium/lipid-binding domain, CaLB (1);	0.193546	0.36591	N	0.002515	T	0.13500	0.0327	L	0.42245	1.32	0.45025	D	0.998042	B;B	0.24618	0.107;0.107	B;B	0.23150	0.044;0.027	T	0.05971	-1.0853	9	.	.	.	.	14.9299	0.70906	0.0:0.1425:0.8575:0.0	.	837;763	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	837;739	ENSP00000402861:E837K;ENSP00000414138:E739K	.	E	+	1	0	PLCL1	198658995	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.803000	0.75180	2.814000	0.96858	0.591000	0.81541	GAG		0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		18	50	0	0	0	1	0	18	50				
CLDN17	26285	broad.mit.edu	37	21	31538400	31538400	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31538400C>T	ENST00000286808.3	-	1	571	c.536G>A	c.(535-537)gGg>gAg	p.G179E		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	179					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AAGCAGACCCCCTCCAATGAA	0.512																																						ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(535-537)gGg>gAg		claudin 17							100.0	96.0	97.0					21																	31538400		2203	4300	6503	SO:0001583	missense	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538400C>T	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.536G>A	21.37:g.31538400C>T	ENSP00000286808:p.Gly179Glu						p.G179E	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	571	-			179					Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.536G>A	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551650	0.65311	.	.	ENSG00000156282	ENST00000286808	D	0.98701	-5.08	4.63	3.75	0.43078	.	0.052702	0.85682	N	0.000000	D	0.99411	0.9792	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98346	1.0541	10	0.87932	D	0	.	13.2325	0.59951	0.0:0.9213:0.0:0.0787	.	179	P56750	CLD17_HUMAN	E	179	ENSP00000286808:G179E	ENSP00000286808:G179E	G	-	2	0	CLDN17	30460271	1.000000	0.71417	0.771000	0.31576	0.556000	0.35491	4.606000	0.61126	1.562000	0.49601	0.655000	0.94253	GGG		0.512	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		7	40	0	0	0	1	0	7	40				
BCLAF1	9774	broad.mit.edu	37	6	136582518	136582518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:136582518G>A	ENST00000531224.1	-	12	2894	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S708L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S99L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S832L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S879L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S830L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S830L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	881					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)	p.S881L(1)		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)		ACTGCTACCTGATTTTTTGAA	0.428																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.S881L(1)	skin(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2641-2643)tCa>tTa		BCL2-associated transcription factor 1							232.0	232.0	232.0					6																	136582518		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.chr6:136582518G>A	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.2642C>T	6.37:g.136582518G>A	ENSP00000435210:p.Ser881Leu					BCLAF1_ENST00000353331.4_Missense_Mutation_p.S830L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S879L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S830L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S99L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S832L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S708L	p.S881L	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	2894	-	Colorectal(23;0.24)		881					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2642C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748351	0.69533	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	T;T;T;T;T;T;T	0.54071	4.22;4.22;4.22;2.14;4.22;0.59;4.22	5.5	5.5	0.81552	.	0.247728	0.28901	N	0.013762	T	0.55737	0.1939	N	0.25485	0.75	0.43222	D	0.995109	D;D;D;D;B	0.89917	0.989;1.0;0.989;0.989;0.32	D;D;D;D;P	0.74348	0.978;0.983;0.978;0.978;0.541	T	0.61628	-0.7024	10	0.72032	D	0.01	0.1067	19.3961	0.94607	0.0:0.0:1.0:0.0	.	879;160;830;881;708	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;.;BCLF1_HUMAN;.	L	881;830;832;708;879;99;830	ENSP00000435210:S881L;ENSP00000229446:S830L;ENSP00000435441:S832L;ENSP00000436501:S708L;ENSP00000434826:S879L;ENSP00000031135:S99L;ENSP00000376159:S830L	ENSP00000031135:S99L	S	-	2	0	BCLAF1	136624211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.695000	0.68279	2.581000	0.87130	0.655000	0.94253	TCA		0.428	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		53	181	0	0	0	1	0	53	181				
MROH5	389690	broad.mit.edu	37	8	142506530	142506530	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142506530C>T	ENST00000430863.1	-	0	232					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCATCTGTCCCTGCGGGCAGA	0.582																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							97.0	104.0	102.0					8																	142506530		2146	4250	6396			389690							g.chr8:142506530C>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142506530C>T								NM_207414.2	NP_997297.2					0	232	-									RNA	SNP	ENST00000430863.1	37			.	.	.	.	.	.	.	.	.	.	C	8.379	0.837163	0.16891	.	.	ENSG00000226807	ENST00000521161	.	.	.	4.07	1.44	0.22558	.	.	.	.	.	T	0.26159	0.0638	N	0.19112	0.55	.	.	.	B	0.11235	0.004	B	0.10450	0.005	T	0.35051	-0.9804	7	0.07175	T	0.84	.	8.0579	0.30617	0.0:0.8297:0.0:0.1703	.	51	Q6ZUA9	.	K	16	.	ENSP00000431031:R51K	R	-	2	0	AC100803.1	142575712	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.101000	0.10973	0.298000	0.22638	0.561000	0.74099	AGG		0.582	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		11	41	0	0	0	1	0	11	41				
AGRN	375790	broad.mit.edu	37	1	983443	983443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:983443G>A	ENST00000379370.2	+	23	3853	c.3803G>A	c.(3802-3804)gGa>gAa	p.G1268E		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1268	Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ATTGCTGCGGGAGCCACGGCC	0.667																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3802-3804)gGa>gAa		agrin																																				SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:983443G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3803G>A	1.37:g.983443G>A	ENSP00000368678:p.Gly1268Glu						p.G1268E	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	23	3853	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1268			Ser/Thr-rich.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.3803G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	T	4.653	0.121313	0.08881	.	.	ENSG00000188157	ENST00000379370	T	0.75367	-0.93	3.86	0.441	0.16577	.	1.060040	0.07508	N	0.908353	T	0.47303	0.1438	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.35450	-0.9788	10	0.02654	T	1	-0.5502	5.304	0.15793	0.0:0.4139:0.2822:0.3039	.	1268	O00468	AGRIN_HUMAN	E	1268	ENSP00000368678:G1268E	ENSP00000368678:G1268E	G	+	2	0	AGRN	973306	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.091000	0.11146	-0.101000	0.12219	-0.375000	0.07067	GGA		0.667	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		2	1	0	0	0	1	0	2	1				
ZNF208	7757	broad.mit.edu	37	19	22155687	22155687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22155687C>T	ENST00000397126.4	-	4	2297	c.2149G>A	c.(2149-2151)Gga>Aga	p.G717R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGTTTCTCTCCAGTATGAATT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2149-2151)Gga>Aga		zinc finger protein 208							37.0	39.0	39.0					19																	22155687		2015	4193	6208	SO:0001583	missense	7757							g.chr19:22155687C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2149G>A	19.37:g.22155687C>T	ENSP00000380315:p.Gly717Arg					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G717R	NM_007153.3	NP_009084.2					4	2297	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2149G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008334	0.19199	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.01629	4.72	1.9	1.9	0.25705	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05502	0.0145	.	.	.	0.28773	N	0.900275	D	0.60160	0.987	P	0.56788	0.806	T	0.14811	-1.0459	8	0.66056	D	0.02	.	10.6097	0.45415	0.0:1.0:0.0:0.0	.	617	O43345	ZN208_HUMAN	R	717;617	ENSP00000380315:G717R	ENSP00000380315:G717R	G	-	1	0	ZNF208	21947527	0.001000	0.12720	0.270000	0.24601	0.147000	0.21601	1.077000	0.30741	0.917000	0.36895	0.280000	0.19369	GGA		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		14	17	0	0	0	1	0	14	17				
ZNF548	147694	broad.mit.edu	37	19	57908527	57908527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57908527C>T	ENST00000366197.5	+	2	377	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	AC003002.4_ENST00000597658.1_Intron|AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.L55F|ZNF548_ENST00000597400.1_Missense_Mutation_p.L55F|ZNF548_ENST00000336128.7_Missense_Mutation_p.L55F|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAATTTGGCCCTTTTGTCCTC	0.532																																						ENST00000366197.5																			0				breast(1)	1						c.(127-129)Ctt>Ttt		zinc finger protein 548							443.0	400.0	415.0					19																	57908527		2203	4297	6500	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908527C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.127C>T	19.37:g.57908527C>T	ENSP00000379482:p.Leu43Phe					AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.L55F|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.L55F|ZNF548_ENST00000336128.7_Missense_Mutation_p.L55F|AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Intron	p.L43F	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	377	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	43			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.127C>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447130	0.43429	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.01821	4.62;4.62	2.55	1.51	0.23008	Krueppel-associated box (4);	.	.	.	.	T	0.11153	0.0272	H	0.95294	3.65	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.69824	0.919;0.966	T	0.13335	-1.0513	9	0.34782	T	0.22	.	3.8102	0.08793	0.0:0.5947:0.2568:0.1485	.	55;43	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	F	55;43	ENSP00000337555:L55F;ENSP00000379482:L43F	ENSP00000337555:L55F	L	+	1	0	ZNF548	62600339	0.000000	0.05858	0.002000	0.10522	0.287000	0.27160	-0.940000	0.03929	0.660000	0.30964	0.563000	0.77884	CTT		0.532	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		135	225	0	0	0	1	0	135	225				
EMILIN1	11117	broad.mit.edu	37	2	27306173	27306173	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306173G>A	ENST00000380320.4	+	4	2233	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCCATGGGGATGAGGGCT	0.657																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(1732-1734)ggG>ggA		elastin microfibril interfacer 1							26.0	30.0	29.0					2																	27306173		2196	4295	6491	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27306173G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1734G>A	2.37:g.27306173G>A							p.G578G	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	2233	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		578					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.1734G>A	CCDS1733.1																																																																																				0.657	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		23	26	0	0	0	1	0	23	26				
LRRIQ3	127255	broad.mit.edu	37	1	74575193	74575193	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74575193C>T	ENST00000395089.1	-	4	751	c.752G>A	c.(751-753)aGa>aAa	p.R251K	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R251K|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	251										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATATCCTCTAATAATTTT	0.318																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(751-753)aGa>aAa		leucine-rich repeats and IQ motif containing 3							121.0	99.0	106.0					1																	74575193		1789	4051	5840	SO:0001583	missense	127255							g.chr1:74575193C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.752G>A	1.37:g.74575193C>T	ENSP00000378524:p.Arg251Lys					LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R251K	p.R251K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	943	-			251					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.752G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549778	0.27652	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.34472	2.91;2.91;1.36	3.83	-1.19	0.09585	.	.	.	.	.	T	0.10551	0.0258	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37731	-0.9693	9	0.59425	D	0.04	.	7.2247	0.26007	0.0:0.4654:0.0:0.5346	.	251	A6PVS8	LRIQ3_HUMAN	K	251;251;143;251	ENSP00000378524:R251K;ENSP00000346414:R251K;ENSP00000359946:R143K	ENSP00000346414:R251K	R	-	2	0	LRRIQ3	74347781	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.102000	0.03332	-0.228000	0.09869	0.585000	0.79938	AGA		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		16	29	0	0	0	1	0	16	29				
BRINP3	339479	broad.mit.edu	37	1	190129883	190129883	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:190129883G>A	ENST00000367462.3	-	7	1330	c.1099C>T	c.(1099-1101)Cta>Tta	p.L367L	BRINP3_ENST00000534846.1_Silent_p.L265L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	367					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TGCGCCTTTAGGAAAAGTTGT	0.398																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1099-1101)Cta>Tta									145.0	147.0	146.0					1																	190129883		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190129883G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1099C>T	1.37:g.190129883G>A						FAM5C_ENST00000534846.1_Silent_p.L265L|FAM5C_ENST00000484105.1_5'UTR	p.L367L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			7	1330	-	Prostate(682;0.198)		367					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1099C>T	CCDS1373.1																																																																																				0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		33	51	0	0	0	1	0	33	51				
PUM2	23369	broad.mit.edu	37	2	20463022	20463022	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:20463022G>A	ENST00000361078.2	-	13	2179	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	PUM2_ENST00000403432.1_Silent_p.F719F|PUM2_ENST00000319801.5_Silent_p.F640F|PUM2_ENST00000338086.5_Silent_p.F719F|PUM2_ENST00000536417.1_Silent_p.F663F			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	719	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGGTTTGGGAAGCGGTTGT	0.423																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(2155-2157)ttC>ttT		pumilio RNA-binding family member 2							66.0	68.0	67.0					2																	20463022		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20463022G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2157C>T	2.37:g.20463022G>A						PUM2_ENST00000319801.5_Silent_p.F640F|PUM2_ENST00000403432.1_Silent_p.F719F|PUM2_ENST00000338086.5_Silent_p.F719F|PUM2_ENST00000536417.1_Silent_p.F663F	p.F719F			Q8TB72	PUM2_HUMAN			13	2179	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		719			PUM-HD.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.2157C>T																																																																																					0.423	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		24	42	0	0	0	1	0	24	42				
ARSH	347527	broad.mit.edu	37	X	2951409	2951409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2951409C>T	ENST00000381130.2	+	9	1672	c.1672C>T	c.(1672-1674)Ctt>Ttt	p.L558F		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	558					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGATGACATCCTTCCCATGGC	0.517																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1672-1674)Ctt>Ttt		arylsulfatase family, member H							63.0	41.0	48.0					X																	2951409		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2951409C>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1672C>T	X.37:g.2951409C>T	ENSP00000370522:p.Leu558Phe						p.L558F	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			9	1672	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	558						Missense_Mutation	SNP	ENST00000381130.2	37	c.1672C>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	c	1.092	-0.663696	0.03428	.	.	ENSG00000205667	ENST00000381130	D	0.96300	-3.97	2.95	-1.13	0.09775	.	0.968402	0.08372	U	0.955993	D	0.86834	0.6028	N	0.14661	0.345	0.09310	N	1	P	0.37015	0.578	B	0.30782	0.12	T	0.81210	-0.1036	10	0.17832	T	0.49	.	1.5222	0.02518	0.2521:0.4271:0.179:0.1418	.	558	Q5FYA8	ARSH_HUMAN	F	558	ENSP00000370522:L558F	ENSP00000370522:L558F	L	+	1	0	ARSH	2961409	0.097000	0.21791	0.067000	0.19924	0.130000	0.20726	-0.782000	0.04643	-0.191000	0.10448	0.513000	0.50165	CTT		0.517	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		9	20	0	0	0	1	0	9	20				
HERPUD2	64224	broad.mit.edu	37	7	35677969	35677969	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:35677969T>A	ENST00000396081.1	-	5	1412	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y203F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	203					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CTACTGCATATAATACTGATG	0.388																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(607-609)tAt>tTt		HERPUD family member 2							69.0	64.0	65.0					7																	35677969		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35677969T>A	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.608A>T	7.37:g.35677969T>A	ENSP00000379390:p.Tyr203Phe					HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y203F|HERPUD2_ENST00000426180.1_5'UTR	p.Y203F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			5	1412	-			203					A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.608A>T	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.030377	0.93575	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517	T;T;T;T	0.62498	1.64;1.64;0.02;0.46	5.18	5.18	0.71444	.	0.112377	0.64402	D	0.000006	T	0.63640	0.2528	L	0.45352	1.415	0.80722	D	1	D	0.56746	0.977	P	0.50352	0.638	T	0.65195	-0.6227	10	0.45353	T	0.12	-5.3038	15.3137	0.74056	0.0:0.0:0.0:1.0	.	203	Q9BSE4	HERP2_HUMAN	F	203;203;139;177	ENSP00000379390:Y203F;ENSP00000310729:Y203F;ENSP00000415475:Y139F;ENSP00000391015:Y177F	ENSP00000310729:Y203F	Y	-	2	0	HERPUD2	35644494	1.000000	0.71417	0.933000	0.37362	0.923000	0.55619	7.997000	0.88414	2.077000	0.62373	0.533000	0.62120	TAT		0.388	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		17	53	0	0	0	1	0	17	53				
PNOC	5368	broad.mit.edu	37	8	28196631	28196631	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28196631G>A	ENST00000301908.3	+	3	409	c.201G>A	c.(199-201)agG>agA	p.R67R	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.R3R	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	67					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		TCATGGCCAGGAGCTCTTGGC	0.627																																						ENST00000301908.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(199-201)agG>agA		prepronociceptin							54.0	55.0	55.0					8																	28196631		2203	4300	6503	SO:0001819	synonymous_variant	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196631G>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.201G>A	8.37:g.28196631G>A						RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.R3R	p.R67R	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	409	+		Ovarian(32;0.000953)	67					B7Z749|Q6FH16	Silent	SNP	ENST00000301908.3	37	c.201G>A	CCDS6066.1																																																																																				0.627	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		27	49	0	0	0	1	0	27	49				
WBSCR17	64409	broad.mit.edu	37	7	70880892	70880892	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70880892C>T	ENST00000333538.5	+	4	1241	c.607C>T	c.(607-609)Cta>Tta	p.L203L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	203	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAGGTCCCCCTAGAGGAGTA	0.493																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(607-609)Cta>Tta		Williams-Beuren syndrome chromosome region 17							67.0	63.0	65.0					7																	70880892		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880892C>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.607C>T	7.37:g.70880892C>T						WBSCR17_ENST00000498380.2_3'UTR	p.L203L	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			4	1241	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	203			Catalytic subdomain A.		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.607C>T	CCDS5540.1																																																																																				0.493	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		12	34	0	0	0	1	0	12	34				
DUOX1	53905	broad.mit.edu	37	15	45436378	45436378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45436378C>T	ENST00000321429.4	+	18	2488	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	DUOX1_ENST00000561166.1_Missense_Mutation_p.S340F|DUOX1_ENST00000389037.3_Missense_Mutation_p.S694F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	694					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTCGTCCTGTCCAGCAACCGT	0.612																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(2080-2082)tCc>tTc		dual oxidase 1							90.0	74.0	79.0					15																	45436378		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45436378C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2081C>T	15.37:g.45436378C>T	ENSP00000317997:p.Ser694Phe					DUOX1_ENST00000389037.3_Missense_Mutation_p.S694F|DUOX1_ENST00000561166.1_Missense_Mutation_p.S340F	p.S694F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	18	2488	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	694					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2081C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277699	0.80692	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86865	-2.18;-2.18	4.78	4.78	0.61160	.	0.112351	0.64402	D	0.000008	D	0.92388	0.7584	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92984	0.6409	10	0.87932	D	0	-43.5835	15.688	0.77426	0.0:1.0:0.0:0.0	.	694	Q9NRD9	DUOX1_HUMAN	F	694	ENSP00000317997:S694F;ENSP00000373689:S694F	ENSP00000317997:S694F	S	+	2	0	DUOX1	43223670	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.340000	0.79292	2.631000	0.89168	0.655000	0.94253	TCC		0.612	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		25	36	0	0	0	1	0	25	36				
RYR2	6262	broad.mit.edu	37	1	237819251	237819251	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237819251G>A	ENST00000366574.2	+	53	8413	c.8096G>A	c.(8095-8097)gGg>gAg	p.G2699E	RYR2_ENST00000542537.1_Missense_Mutation_p.G2683E|RYR2_ENST00000360064.6_Missense_Mutation_p.G2697E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2699	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATTCTGAAGGGAACTTTAAC	0.403																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(8095-8097)gGg>gAg		ryanodine receptor 2 (cardiac)							76.0	75.0	75.0					1																	237819251		1868	4114	5982	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237819251G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8096G>A	1.37:g.237819251G>A	ENSP00000355533:p.Gly2699Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.G2697E|RYR2_ENST00000542537.1_Missense_Mutation_p.G2683E	p.G2699E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8413	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2699			4 X approximate repeats.|Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8096G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958141	0.92726	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97575	-4.44;-4.42;-4.44	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000007	D	0.98529	0.9509	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98667	1.0686	10	0.56958	D	0.05	-17.241	20.3789	0.98926	0.0:0.0:1.0:0.0	.	2699	Q92736	RYR2_HUMAN	E	2699;2697;2683	ENSP00000355533:G2699E;ENSP00000353174:G2697E;ENSP00000443798:G2683E	ENSP00000353174:G2697E	G	+	2	0	RYR2	235885874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.865000	0.99609	2.826000	0.97356	0.563000	0.77884	GGG		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	4	0	0	0	1	0	8	4				
SERTAD1	29950	broad.mit.edu	37	19	40929339	40929339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929339C>T	ENST00000357949.4	-	2	273	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	39	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGCCACGGCCGGGGGTGCC	0.637																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(115-117)Gcc>Acc		SERTA domain containing 1							23.0	27.0	26.0					19																	40929339		2197	4293	6490	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929339C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.115G>A	19.37:g.40929339C>T	ENSP00000350633:p.Ala39Thr						p.A39T	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	273	-			39			SERTA.		Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.115G>A	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	0.453	-0.892983	0.02491	.	.	ENSG00000197019	ENST00000357949	T	0.43294	0.95	4.64	-1.7	0.08159	.	0.713295	0.13169	N	0.408432	T	0.12135	0.0295	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32052	-0.9921	10	0.02654	T	1	-15.1003	4.2791	0.10824	0.0:0.3081:0.1983:0.4936	.	39	Q9UHV2	SRTD1_HUMAN	T	39	ENSP00000350633:A39T	ENSP00000350633:A39T	A	-	1	0	SERTAD1	45621179	0.024000	0.19004	0.000000	0.03702	0.015000	0.08874	0.044000	0.13992	-0.039000	0.13602	0.561000	0.74099	GCC		0.637	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		15	24	0	0	0	1	0	15	24				
MS4A14	84689	broad.mit.edu	37	11	60184188	60184188	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60184188G>A	ENST00000300187.6	+	5	2024	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	MS4A14_ENST00000395005.2_Missense_Mutation_p.D566N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D471N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D616N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	583	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAATCTAAAGATGGACAAGT	0.443																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1747-1749)Gat>Aat		membrane-spanning 4-domains, subfamily A, member 14							72.0	62.0	66.0					11																	60184188		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60184188G>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1747G>A	11.37:g.60184188G>A	ENSP00000300187:p.Asp583Asn					MS4A14_ENST00000395005.2_Missense_Mutation_p.D566N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D616N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D471N	p.D583N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	2024	+			583			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1747G>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584127	0.28268	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.35605	1.3;2.46;1.3;2.8	4.31	-0.493	0.12038	.	6.584700	0.00166	N	0.000002	T	0.31358	0.0794	L	0.45137	1.4	0.09310	N	1	B;B	0.30146	0.27;0.176	B;B	0.25291	0.059;0.026	T	0.24225	-1.0166	10	0.42905	T	0.14	-0.6215	7.8915	0.29680	0.134:0.1612:0.7048:0.0	.	566;583	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	N	471;583;566;616	ENSP00000437222:D471N;ENSP00000300187:D583N;ENSP00000378453:D566N;ENSP00000433761:D616N	ENSP00000300187:D583N	D	+	1	0	MS4A14	59940764	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-1.240000	0.02914	0.009000	0.14813	0.655000	0.94253	GAT		0.443	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			23	24	0	0	0	1	0	23	24				
SESTD1	91404	broad.mit.edu	37	2	180008406	180008406	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:180008406G>A	ENST00000428443.3	-	9	1078	c.762C>T	c.(760-762)ctC>ctT	p.L254L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	254							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTGCTCTCGGAGTGAATCTA	0.458																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(760-762)ctC>ctT		SEC14 and spectrin domains 1							156.0	153.0	154.0					2																	180008406		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008406G>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.762C>T	2.37:g.180008406G>A							p.L254L	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1078	-			254					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.762C>T	CCDS33338.1																																																																																				0.458	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		32	71	0	0	0	1	0	32	71				
SYNRG	11276	broad.mit.edu	37	17	35913449	35913449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:35913449G>A	ENST00000339208.6	-	14	2516	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	SYNRG_ENST00000502449.2_Silent_p.S714S|SYNRG_ENST00000394378.2_Silent_p.S714S|SYNRG_ENST00000346661.4_Silent_p.S792S|SYNRG_ENST00000345615.4_Silent_p.S714S|SYNRG_ENST00000588194.1_5'Flank|SYNRG_ENST00000591288.1_Silent_p.S631S|SYNRG_ENST00000585472.1_Silent_p.S713S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	792					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTCCCAGGGATTTGTCCG	0.448																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2374-2376)tcC>tcT		synergin, gamma							111.0	110.0	111.0					17																	35913449		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913449G>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2376C>T	17.37:g.35913449G>A						SYNRG_ENST00000585472.1_Silent_p.S713S|SYNRG_ENST00000502449.2_Silent_p.S714S|SYNRG_ENST00000394378.2_Silent_p.S714S|SYNRG_ENST00000345615.4_Silent_p.S714S|SYNRG_ENST00000346661.4_Silent_p.S792S|SYNRG_ENST00000591288.1_Silent_p.S631S	p.S792S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2516	-			792					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.2376C>T	CCDS11321.1																																																																																				0.448	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		30	52	0	0	0	1	0	30	52				
NDN	4692	broad.mit.edu	37	15	23932305	23932305	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932305G>A	ENST00000331837.4	-	1	145	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	20					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)		TGTGCACCTCGGAGTTGGGGG	0.667									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.(58-60)tcC>tcT		necdin, melanoma antigen (MAGE) family member							22.0	21.0	21.0					15																	23932305		1724	3426	5150	SO:0001819	synonymous_variant	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.chr15:23932305G>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.60C>T	15.37:g.23932305G>A							p.S20S	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	145	-		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)	20					B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.60C>T	CCDS10014.1																																																																																				0.667	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		14	10	0	0	0	1	0	14	10				
MYOF	26509	broad.mit.edu	37	10	95079641	95079641	+	Silent	SNP	G	G	A	rs181874899	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95079641G>A	ENST00000359263.4	-	49	5585	c.5586C>T	c.(5584-5586)atC>atT	p.I1862I	MYOF_ENST00000371501.4_Silent_p.I1862I|MYOF_ENST00000371502.4_Silent_p.I1852I|MYOF_ENST00000358334.5_Silent_p.I1849I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1862					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTTCGCAACGATACAGAGTT	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		20343	0.002		0.0	False		,,,				2504	0.0					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(5584-5586)atC>atT		myoferlin		G	,	1,3741		0,1,1870	102.0	93.0	95.0		5586,5547	-6.2	0.2	10		95	4,8226		0,4,4111	no	coding-synonymous,coding-synonymous	MYOF	NM_013451.3,NM_133337.2	,	0,5,5981	AA,AG,GG		0.0486,0.0267,0.0418	,	1862/2062,1849/2049	95079641	5,11967	1871	4115	5986	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95079641G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5586C>T	10.37:g.95079641G>A						MYOF_ENST00000371502.4_Silent_p.I1852I|MYOF_ENST00000359263.4_Silent_p.I1862I|MYOF_ENST00000358334.5_Silent_p.I1849I	p.I1862I			Q9NZM1	MYOF_HUMAN			49	5708	-			1862					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.5586C>T	CCDS41551.1																																																																																				0.443	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		23	44	0	0	0	1	0	23	44				
TET3	200424	broad.mit.edu	37	2	74320791	74320791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74320791G>A	ENST00000409262.3	+	7	2860	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	954					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGTGCACCGTGGTAAGCCT	0.627																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2860-2862)Gtg>Atg		tet methylcytosine dioxygenase 3							68.0	72.0	71.0					2																	74320791		2018	4194	6212	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74320791G>A		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2860G>A	2.37:g.74320791G>A	ENSP00000386869:p.Val954Met						p.V954M	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			7	2860	+			954					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2860G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465403	0.84425	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.15017	2.46	5.21	4.33	0.51752	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.061993	0.64402	D	0.000005	T	0.41719	0.1171	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.34054	-0.9844	10	0.48119	T	0.1	.	13.0025	0.58683	0.0792:0.0:0.9208:0.0	.	954	O43151	TET3_HUMAN	M	954	ENSP00000386869:V954M	ENSP00000233310:V954M	V	+	1	0	TET3	74174299	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	9.657000	0.98554	1.420000	0.47138	0.655000	0.94253	GTG		0.627	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			22	37	0	0	0	1	0	22	37				
OXA1L	5018	broad.mit.edu	37	14	23237204	23237204	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23237204C>T	ENST00000604262.1	+	3	286	c.263C>T	c.(262-264)cCc>cTc	p.P88L	OXA1L_ENST00000358043.5_Missense_Mutation_p.P72L|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000285848.5_Missense_Mutation_p.P148L|OXA1L_ENST00000412791.1_Missense_Mutation_p.P88L			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	88					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACTCCCTCACCCACAGCAGTA	0.507																																						ENST00000358043.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(214-216)cCc>cTc		oxidase (cytochrome c) assembly 1-like							51.0	52.0	52.0					14																	23237204		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23237204C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.263C>T	14.37:g.23237204C>T	ENSP00000474623:p.Pro88Leu					OXA1L_ENST00000285848.5_Missense_Mutation_p.P148L|OXA1L_ENST00000412791.1_Missense_Mutation_p.P88L|OXA1L_ENST00000604262.1_Missense_Mutation_p.P88L	p.P72L			Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	3	533	+	all_cancers(95;8.44e-05)		88					B4DPA2	Missense_Mutation	SNP	ENST00000604262.1	37	c.215C>T		.	.	.	.	.	.	.	.	.	.	C	16.65	3.182689	0.57800	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.34275	1.37;1.45;1.41	5.65	5.65	0.86999	.	0.150069	0.64402	D	0.000009	T	0.48572	0.1507	M	0.80183	2.485	0.28731	N	0.902512	P;B;B;B	0.47545	0.897;0.264;0.028;0.264	P;B;B;B	0.45558	0.485;0.037;0.007;0.037	T	0.55373	-0.8151	10	0.46703	T	0.11	-13.9039	16.6469	0.85178	0.0:1.0:0.0:0.0	.	88;88;88;148	B4DGZ2;E7EVY0;Q15070;Q2M1J6	.;.;OXA1L_HUMAN;.	L	148;88;72	ENSP00000285848:P148L;ENSP00000387601:P88L;ENSP00000350740:P72L	ENSP00000285848:P148L	P	+	2	0	OXA1L	22307044	0.720000	0.27996	0.422000	0.26621	0.679000	0.39708	5.854000	0.69503	2.655000	0.90218	0.655000	0.94253	CCC		0.507	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468876.1	NM_005015		14	28	0	0	0	1	0	14	28				
MIOX	55586	broad.mit.edu	37	22	50926477	50926477	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50926477G>A	ENST00000216075.6	+	4	414	c.340G>A	c.(340-342)Gac>Aac	p.D114N	MIOX_ENST00000395733.3_Splice_Site_p.V114I|MIOX_ENST00000395732.3_Splice_Site_p.D114N	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	114					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGACAAGGGTGAGCCCTG	0.657																																						ENST00000395732.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13						c.e4+1		myo-inositol oxygenase							37.0	35.0	36.0					22																	50926477		2203	4300	6503	SO:0001630	splice_region_variant	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50926477G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.340+1G>A	22.37:g.50926477G>A						MIOX_ENST00000216075.6_Splice_Site_p.D114_splice|MIOX_ENST00000395733.3_Splice_Site_p.V114_splice	p.D114_splice			Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	362	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	114					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Splice_Site	SNP	ENST00000216075.6	37	c.340_splice	CCDS14092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.857991|4.857991	0.91433|0.91433	.|.	.|.	ENSG00000100253|ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761|ENST00000395733	.|.	.|.	.|.	3.99|3.99	3.99|3.99	0.46301|0.46301	.|.	0.098538|.	0.64402|.	D|.	0.000002|.	T|T	0.70298|0.70298	0.3208|0.3208	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D|B	0.71674|0.26445	0.998;0.985|0.149	D;D|B	0.75484|0.14578	0.986;0.979|0.011	T|T	0.75354|0.75354	-0.3347|-0.3347	9|8	0.87932|0.72032	D|D	0|0.01	-8.3753|-8.3753	13.5985|13.5985	0.62004|0.62004	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114;114|114	A6PVH2;Q9UGB7|Q9UGB7-2	.;MIOX_HUMAN|.	N|I	114;114;109|114	.|.	ENSP00000216075:D114N|ENSP00000379082:V114I	D|V	+|+	1|1	0|0	MIOX|MIOX	49273343|49273343	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	9.203000|9.203000	0.95033|0.95033	2.046000|2.046000	0.60703|0.60703	0.491000|0.491000	0.48974|0.48974	GAC|GTC		0.657	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584	Missense_Mutation	19	24	0	0	0	1	0	19	24				
BMP1	649	broad.mit.edu	37	8	22054265	22054265	+	Missense_Mutation	SNP	C	C	T	rs374904129		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22054265C>T	ENST00000306385.5	+	14	2508	c.1838C>T	c.(1837-1839)cCc>cTc	p.P613L	BMP1_ENST00000306349.8_Missense_Mutation_p.P613L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.P613L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	613	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GAGTACCCCCCCAACAAGAAC	0.602																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1837-1839)cCc>cTc		bone morphogenetic protein 1							64.0	56.0	59.0					8																	22054265		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054265C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1838C>T	8.37:g.22054265C>T	ENSP00000305714:p.Pro613Leu					BMP1_ENST00000397816.3_Missense_Mutation_p.P613L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.P613L	p.P613L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	14	2508	+			613			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1838C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447000	0.84101	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.31510	1.49;1.49;1.49	5.65	4.78	0.61160	CUB (5);	0.000000	0.34828	U	0.003646	T	0.50752	0.1634	M	0.67953	2.075	0.80722	D	1	P;D;D;P	0.89917	0.796;1.0;0.999;0.88	P;D;D;B	0.97110	0.741;1.0;0.987;0.312	T	0.45629	-0.9248	10	0.22706	T	0.39	.	13.2878	0.60253	0.0:0.9226:0.0:0.0774	.	613;686;613;613	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	L	613	ENSP00000305714:P613L;ENSP00000380917:P613L;ENSP00000306121:P613L	ENSP00000306121:P613L	P	+	2	0	BMP1	22110210	0.998000	0.40836	0.595000	0.28798	0.963000	0.63663	7.811000	0.86092	1.396000	0.46663	0.462000	0.41574	CCC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		22	33	0	0	0	1	0	22	33				
SELE	6401	broad.mit.edu	37	1	169696637	169696637	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169696637C>T	ENST00000333360.7	-	10	1637	c.1498G>A	c.(1498-1500)Gga>Aga	p.G500R	SELE_ENST00000367774.1_Missense_Mutation_p.G374R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367781.4_Missense_Mutation_p.G437R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.G437R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	500	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTGATCTTTCCCGGAACTGCC	0.488																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1498-1500)Gga>Aga		selectin E							78.0	75.0	76.0					1																	169696637		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696637C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1498G>A	1.37:g.169696637C>T	ENSP00000331736:p.Gly500Arg					SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367781.4_Missense_Mutation_p.G437R|SELE_ENST00000367774.1_Missense_Mutation_p.G374R|SELE_ENST00000367776.1_Missense_Mutation_p.G437R|SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|C1orf112_ENST00000498289.1_Intron	p.G500R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			10	1637	-	all_hematologic(923;0.208)		500			Sushi 6.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1498G>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626488	0.14257	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.23147	2.01;1.95;2.12;1.92;2.02;1.95;2.12;2.01;1.92	5.83	2.46	0.29980	Complement control module (2);Sushi/SCR/CCP (2);	0.543226	0.15603	N	0.253813	T	0.04679	0.0127	N	0.20483	0.58	0.09310	N	1	B	0.17852	0.024	B	0.24701	0.055	T	0.44345	-0.9334	10	0.11182	T	0.66	-1.703	8.176	0.31283	0.0:0.6945:0.1376:0.1678	.	500	P16581	LYAM2_HUMAN	R	437;437;375;374;500;437;375;437;374	ENSP00000356755:G437R;ENSP00000356756:G437R;ENSP00000356754:G375R;ENSP00000356753:G374R;ENSP00000331736:G500R;ENSP00000356751:G437R;ENSP00000356749:G375R;ENSP00000356750:G437R;ENSP00000356748:G374R	ENSP00000331736:G500R	G	-	1	0	SELE	167963261	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.517000	0.22832	0.779000	0.33543	0.650000	0.86243	GGA		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		13	20	0	0	0	1	0	13	20				
KIF2B	84643	broad.mit.edu	37	17	51900837	51900837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:51900837C>T	ENST00000268919.4	+	1	599	c.443C>T	c.(442-444)cCc>cTc	p.P148L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	148			P -> S (in dbSNP:rs59657238).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAAGTCTCCCTGCCTCTGG	0.567																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(442-444)cCc>cTc		kinesin family member 2B							53.0	57.0	55.0					17																	51900837		2203	4299	6502	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900837C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.443C>T	17.37:g.51900837C>T	ENSP00000268919:p.Pro148Leu						p.P148L	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	599	+			148		P -> S (in dbSNP:rs59657238).			Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.443C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037185	0.19669	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73469	-0.75	4.99	3.95	0.45737	.	0.317263	0.22194	N	0.063336	T	0.60741	0.2292	L	0.39898	1.24	0.42803	D	0.993936	B	0.33135	0.399	B	0.29353	0.101	T	0.56189	-0.8020	10	0.13108	T	0.6	.	12.2616	0.54652	0.257:0.743:0.0:0.0	.	148	Q8N4N8	KIF2B_HUMAN	L	148;71	ENSP00000268919:P148L	ENSP00000268919:P148L	P	+	2	0	KIF2B	49255836	0.000000	0.05858	0.331000	0.25455	0.339000	0.28857	1.158000	0.31737	2.739000	0.93911	0.655000	0.94253	CCC		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		48	60	0	0	0	1	0	48	60				
MRGPRX2	117194	broad.mit.edu	37	11	19077805	19077805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077805C>T	ENST00000329773.2	-	2	232	c.145G>A	c.(145-147)Ggg>Agg	p.G49R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCACAAACCCGTTTCCTACC	0.582																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(145-147)Ggg>Agg		MAS-related GPR, member X2							92.0	99.0	97.0					11																	19077805		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077805C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.145G>A	11.37:g.19077805C>T	ENSP00000333800:p.Gly49Arg						p.G49R	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	232	-			49					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.145G>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.435285	0.83885	.	.	ENSG00000183695	ENST00000329773	T	0.12984	2.63	5.14	-3.26	0.05064	GPCR, rhodopsin-like superfamily (1);	1.132930	0.06568	N	0.748039	T	0.20455	0.0492	M	0.75150	2.29	0.09310	N	1	P	0.38863	0.65	P	0.47376	0.545	T	0.39313	-0.9620	10	0.87932	D	0	.	0.9625	0.01399	0.2306:0.3357:0.1133:0.3204	.	49	Q96LB1	MRGX2_HUMAN	R	49	ENSP00000333800:G49R	ENSP00000333800:G49R	G	-	1	0	MRGPRX2	19034381	0.000000	0.05858	0.000000	0.03702	0.604000	0.37047	0.519000	0.22862	-0.449000	0.07117	0.655000	0.94253	GGG		0.582	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		44	99	0	0	0	1	0	44	99				
OR6C65	403282	broad.mit.edu	37	12	55794384	55794384	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55794384G>A	ENST00000379665.2	+	1	171	c.72G>A	c.(70-72)gtG>gtA	p.V24V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TACAAGTTGTGATATTCTTCT	0.318																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(70-72)gtG>gtA		olfactory receptor, family 6, subfamily C, member 65							61.0	56.0	58.0					12																	55794384		2202	4294	6496	SO:0001819	synonymous_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794384G>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.72G>A	12.37:g.55794384G>A							p.V24V	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	171	+			24					B2RNH9	Silent	SNP	ENST00000379665.2	37	c.72G>A	CCDS31821.1																																																																																				0.318	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			20	12	0	0	0	1	0	20	12				
AMPH	273	broad.mit.edu	37	7	38462075	38462075	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462075G>A	ENST00000356264.2	-	16	1433	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.P406P|AMPH_ENST00000325590.5_Silent_p.P406P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGTATCCTGGGGCTGAAAAT	0.353																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1216-1218)ccC>ccT		amphiphysin							149.0	150.0	150.0					7																	38462075		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38462075G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1218C>T	7.37:g.38462075G>A						AMPH_ENST00000325590.5_Silent_p.P406P|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.P406P	p.P406P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			16	1433	-			406					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1218C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811473	0.16537	.	.	ENSG00000078053	ENST00000441628	T	0.37411	1.2	4.98	1.2	0.21068	.	0.636138	0.15715	N	0.248198	T	0.40839	0.1133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25502	-1.0130	7	0.52906	T	0.07	-10.0111	6.4357	0.21821	0.2307:0.1347:0.6346:0.0	.	.	.	.	S	331	ENSP00000415085:P331S	ENSP00000415085:P331S	P	-	1	0	AMPH	38428600	0.987000	0.35691	0.998000	0.56505	0.556000	0.35491	-0.017000	0.12590	0.389000	0.25086	0.650000	0.86243	CCA		0.353	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		54	83	0	0	0	1	0	54	83				
UNC13C	440279	broad.mit.edu	37	15	54804025	54804025	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804025G>A	ENST00000260323.11	+	23	5454	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	UNC13C_ENST00000545554.1_Silent_p.K1818K|UNC13C_ENST00000537900.1_Silent_p.K1816K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1818					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)		TGGGAGGGAAGGAGGTGGGTA	0.343																																						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.(5452-5454)aaG>aaA		unc-13 homolog C (C. elegans)							56.0	55.0	55.0					15																	54804025		1820	4104	5924	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54804025G>A	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.5454G>A	15.37:g.54804025G>A						UNC13C_ENST00000260323.11_Silent_p.K1818K|UNC13C_ENST00000537900.1_Silent_p.K1816K	p.K1818K			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5454	+			1818					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5454G>A	CCDS45264.1																																																																																				0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	5	0	0	0	1	0	6	5				
UBXN2B	137886	broad.mit.edu	37	8	59359986	59359986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:59359986C>T	ENST00000399598.2	+	8	994	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	291	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						CAGTCTCGTCCTGAATTTGCG	0.333																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(871-873)cCt>cTt		UBX domain protein 2B							108.0	93.0	98.0					8																	59359986		1819	4084	5903	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59359986C>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.872C>T	8.37:g.59359986C>T	ENSP00000382507:p.Pro291Leu						p.P291L	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			8	994	+			291			UBX.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.872C>T	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704037	0.88924	.	.	ENSG00000215114	ENST00000399598	T	0.46819	0.86	6.08	6.08	0.98989	UBX (3);	0.000000	0.44688	U	0.000433	T	0.73853	0.3640	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75869	-0.3165	10	0.66056	D	0.02	0.919	18.844	0.92196	0.0:1.0:0.0:0.0	.	291	Q14CS0	UBX2B_HUMAN	L	291	ENSP00000382507:P291L	ENSP00000382507:P291L	P	+	2	0	UBXN2B	59522540	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	5.140000	0.64807	2.894000	0.99253	0.655000	0.94253	CCT		0.333	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		30	50	0	0	0	1	0	30	50				
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:142651377G>A	ENST00000355265.2	-	8	1292	c.818C>T	c.(817-819)tCc>tTc	p.S273F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	273					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATTGACAAGGAAGAGTGTTC	0.542																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(817-819)tCc>tTc		Kell blood group, metallo-endopeptidase							98.0	101.0	100.0					7																	142651377		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142651377G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.818C>T	7.37:g.142651377G>A	ENSP00000347409:p.Ser273Phe					KEL_ENST00000479768.2_5'UTR	p.S273F	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			8	1292	-	Melanoma(164;0.059)		273					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.818C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.539831	0.00934	.	.	ENSG00000197993	ENST00000355265	D	0.82526	-1.62	6.07	-4.02	0.04034	Peptidase M13 (1);	1.224930	0.05652	N	0.585385	T	0.67239	0.2872	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49762	-0.8905	10	0.41790	T	0.15	-4.7038	2.9161	0.05752	0.4854:0.1155:0.2812:0.1179	.	273	P23276	KELL_HUMAN	F	273	ENSP00000347409:S273F	ENSP00000347409:S273F	S	-	2	0	KEL	142361499	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.793000	0.04589	-0.758000	0.04690	-0.196000	0.12772	TCC		0.542	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		38	34	0	0	0	1	0	38	34				
C14orf79	122616	broad.mit.edu	37	14	105452939	105452939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105452939C>T	ENST00000547315.1	+	1	810	c.171C>T	c.(169-171)ccC>ccT	p.P57P	C14orf79_ENST00000550614.1_5'Flank	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	57										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTCCATGCCCCGTGAGGGCG	0.597																																						ENST00000547315.1																			0				breast(1)|endometrium(1)|lung(1)	3						c.(169-171)ccC>ccT		chromosome 14 open reading frame 79							69.0	80.0	76.0					14																	105452939		2057	4195	6252	SO:0001819	synonymous_variant	122616							g.chr14:105452939C>T		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.171C>T	14.37:g.105452939C>T							p.P57P	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		1	810	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	57					B2RPK9|Q9BTP4	Silent	SNP	ENST00000547315.1	37	c.171C>T	CCDS42000.1																																																																																				0.597	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		24	50	0	0	0	1	0	24	50				
EPHA8	2046	broad.mit.edu	37	1	22927811	22927811	+	Silent	SNP	C	C	T	rs150592901	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22927811C>T	ENST00000166244.3	+	16	2820	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	916					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCTGCCTTCGTCCGGAGCT	0.687																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2746-2748)ttC>ttT		EPH receptor A8		C		2,4360		0,2,2179	36.0	43.0	41.0		2748	-1.4	0.6	1	dbSNP_134	41	0,8468		0,0,4234	no	coding-synonymous	EPHA8	NM_020526.3		0,2,6413	TT,TC,CC		0.0,0.0459,0.0156		916/1006	22927811	2,12828	2181	4234	6415	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927811C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2748C>T	1.37:g.22927811C>T							p.F916F	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	16	2820	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	916					Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2748C>T	CCDS225.1																																																																																				0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		38	42	0	0	0	1	0	38	42				
GLDC	2731	broad.mit.edu	37	9	6533116	6533116	+	Silent	SNP	C	C	T	rs146045718	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533116C>T	ENST00000321612.6	-	25	3114	c.2964G>A	c.(2962-2964)cgG>cgA	p.R988R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TGTCATCAATCCGGGCAATCG	0.458													C|||	5	0.000998403	0.0008	0.0029	5008	,	,		20618	0.0		0.001	False		,,,				2504	0.001					ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2962-2964)cgG>cgA		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	C		3,4403	6.2+/-15.9	0,3,2200	108.0	102.0	104.0		2964	1.0	1.0	9	dbSNP_134	104	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	GLDC	NM_000170.2		0,17,6486	TT,TC,CC		0.1628,0.0681,0.1307		988/1021	6533116	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6533116C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2964G>A	9.37:g.6533116C>T							p.R988R	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	25	3114	-		Acute lymphoblastic leukemia(23;0.161)	988					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2964G>A	CCDS34987.1																																																																																				0.458	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		64	18	0	0	0	1	0	64	18				
CSMD1	64478	broad.mit.edu	37	8	2967749	2967749	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2967749G>A	ENST00000520002.1	-	44	7097	c.6542C>T	c.(6541-6543)cCa>cTa	p.P2181L	CSMD1_ENST00000602557.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2181L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2180L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2181	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGTGCCCTGGAGGCACCGT	0.483																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6541-6543)cCa>cTa		CUB and Sushi multiple domains 1							96.0	96.0	96.0					8																	2967749		1965	4149	6114	SO:0001583	missense	64478					integral to membrane		g.chr8:2967749G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6542C>T	8.37:g.2967749G>A	ENSP00000430733:p.Pro2181Leu					CSMD1_ENST00000602723.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2181L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2180L	p.P2181L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	44	7097	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2181			CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6542C>T		.	.	.	.	.	.	.	.	.	.	G	8.224	0.803249	0.16397	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.2	4.24	0.50183	CUB (5);	0.362457	0.27019	N	0.021336	T	0.39911	0.1096	M	0.70787	2.145	0.80722	D	1	D;B;P	0.89917	1.0;0.016;0.735	D;B;B	0.87578	0.998;0.063;0.287	T	0.38457	-0.9660	10	0.07813	T	0.8	.	12.8247	0.57712	0.0:0.0:0.6175:0.3825	.	2181;2181;2180	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2181;2181;2042;2180;2180	ENSP00000383047:P2181L;ENSP00000430733:P2181L;ENSP00000441462:P2180L;ENSP00000446243:P2180L	ENSP00000320445:P2042L	P	-	2	0	CSMD1	2955156	0.992000	0.36948	0.029000	0.17559	0.184000	0.23303	2.181000	0.42547	1.238000	0.43771	0.453000	0.30009	CCA		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	11	0	0	0	1	0	6	11				
LMTK3	114783	broad.mit.edu	37	19	49000677	49000677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000677G>A	ENST00000600059.1	-	11	3876	c.3649C>T	c.(3649-3651)Cct>Tct	p.P1217S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246S			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1217	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTCCCCTGAGGGGGTCCCAAG	0.672																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3649-3651)Cct>Tct		lemur tyrosine kinase 3							48.0	55.0	53.0					19																	49000677		2082	4194	6276	SO:0001583	missense	114783							g.chr19:49000677G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3649C>T	19.37:g.49000677G>A	ENSP00000472020:p.Pro1217Ser					LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246S	p.P1217S						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3876	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.3649C>T		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101656	0.56183	.	.	ENSG00000142235	ENST00000270238	T	0.77098	-1.07	3.8	3.8	0.43715	.	0.325582	0.24147	N	0.041113	T	0.66577	0.2803	N	0.19112	0.55	0.28711	N	0.903545	D	0.58268	0.982	P	0.48627	0.584	T	0.59568	-0.7430	10	0.17832	T	0.49	.	11.3704	0.49696	0.0:0.0:1.0:0.0	.	1217	Q96Q04	LMTK3_HUMAN	S	1246	ENSP00000270238:P1246S	ENSP00000270238:P1246S	P	-	1	0	LMTK3	53692489	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.531000	0.53546	2.134000	0.65973	0.563000	0.77884	CCT		0.672	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		16	49	0	0	0	1	0	16	49				
MITF	4286	broad.mit.edu	37	3	70008443	70008443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:70008443G>A	ENST00000448226.2	+	9	1178	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	MITF_ENST00000314557.6_Missense_Mutation_p.G238R|MITF_ENST00000394355.2_Missense_Mutation_p.G320R|MITF_ENST00000472437.1_Missense_Mutation_p.G293R|MITF_ENST00000328528.6_Missense_Mutation_p.G344R|MITF_ENST00000394351.3_Missense_Mutation_p.G244R|MITF_ENST00000352241.4_Missense_Mutation_p.G345R|MITF_ENST00000314589.5_Missense_Mutation_p.G329R|MITF_ENST00000531774.1_Missense_Mutation_p.G182R			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	351	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.G244R(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGGAACAAGGGAACCATCTT	0.418			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		1	Substitution - Missense(1)	p.G244R(1)	skin(1)	NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(1033-1035)Gga>Aga		microphthalmia-associated transcription factor							81.0	74.0	77.0					3																	70008443		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70008443G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1051G>A	3.37:g.70008443G>A	ENSP00000391803:p.Gly351Arg					MITF_ENST00000531774.1_Missense_Mutation_p.G182R|MITF_ENST00000328528.6_Missense_Mutation_p.G344R|MITF_ENST00000394355.2_Missense_Mutation_p.G320R|MITF_ENST00000314589.5_Missense_Mutation_p.G329R|MITF_ENST00000394351.3_Missense_Mutation_p.G244R|MITF_ENST00000448226.2_Missense_Mutation_p.G351R|MITF_ENST00000472437.1_Missense_Mutation_p.G293R|MITF_ENST00000314557.6_Missense_Mutation_p.G238R	p.G345R	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	9	1196	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	351			Helix-loop-helix motif.		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1033G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.399666	0.96030	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D	0.98991	1.0808	9	.	.	.	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	293;244;238;320;329;344;345	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	R	345;351;293;344;335;329;320;238;244;182	ENSP00000295600:G345R;ENSP00000391803:G351R;ENSP00000418845:G293R;ENSP00000327867:G344R;ENSP00000398639:G335R;ENSP00000324443:G329R;ENSP00000377884:G320R;ENSP00000324246:G238R;ENSP00000377880:G244R;ENSP00000435909:G182R	.	G	+	1	0	MITF	70091133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.808000	0.96608	0.650000	0.86243	GGA		0.418	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		13	36	0	0	0	1	0	13	36				
RBM27	54439	broad.mit.edu	37	5	145610319	145610319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145610319C>T	ENST00000265271.5	+	6	855	c.689C>T	c.(688-690)tCc>tTc	p.S230F	RBM27_ENST00000506502.1_Missense_Mutation_p.S230F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	230					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCAGTATTCCTCTGGGGCA	0.463																																						ENST00000265271.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(688-690)tCc>tTc		RNA binding motif protein 27							134.0	117.0	122.0					5																	145610319		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145610319C>T	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.689C>T	5.37:g.145610319C>T	ENSP00000265271:p.Ser230Phe					RBM27_ENST00000506502.1_Missense_Mutation_p.S230F	p.S230F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	855	+			230					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.689C>T	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670301	0.67814	.	.	ENSG00000091009	ENST00000265271	T	0.49432	0.78	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.55162	0.1903	L	0.47716	1.5	0.80722	D	1	D;D	0.65815	0.995;0.989	P;P	0.56278	0.795;0.737	T	0.44390	-0.9331	10	0.10111	T	0.7	-6.3264	19.2991	0.94136	0.0:1.0:0.0:0.0	.	230;230	Q9P2N5;B3KY61	RBM27_HUMAN;.	F	230	ENSP00000265271:S230F	ENSP00000265271:S230F	S	+	2	0	RBM27	145590512	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.048000	0.64238	2.561000	0.86390	0.563000	0.77884	TCC		0.463	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128		27	37	0	0	0	1	0	27	37				
KRTAP5-1	387264	broad.mit.edu	37	11	1605991	1605991	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1605991G>A	ENST00000382171.2	-	1	522	c.489C>T	c.(487-489)tcC>tcT	p.S163S	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	163	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGCCCCCTTGGAGCACCCAC	0.652																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(487-489)tcC>tcT		keratin associated protein 5-1							68.0	83.0	78.0					11																	1605991		2202	4299	6501	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605991G>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.489C>T	11.37:g.1605991G>A						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.S163S	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	522	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	163			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.489C>T	CCDS31330.1																																																																																				0.652	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		46	107	0	0	0	1	0	46	107				
TMEM135	65084	broad.mit.edu	37	11	86778790	86778790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:86778790C>T	ENST00000305494.5	+	2	235	c.196C>T	c.(196-198)Cct>Tct	p.P66S	TMEM135_ENST00000355734.4_Missense_Mutation_p.P66S|TMEM135_ENST00000340353.7_Missense_Mutation_p.P66S|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	66					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAACTACTCCCTGAGATCCT	0.373																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(196-198)Cct>Tct		transmembrane protein 135							123.0	120.0	121.0					11																	86778790		2201	4298	6499	SO:0001583	missense	65084					integral to membrane		g.chr11:86778790C>T	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.196C>T	11.37:g.86778790C>T	ENSP00000306344:p.Pro66Ser					TMEM135_ENST00000305494.5_Missense_Mutation_p.P66S|TMEM135_ENST00000355734.4_Missense_Mutation_p.P66S|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR	p.P66S	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			2	398	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	66					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.196C>T	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002361	0.74932	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.43294	1.0;0.98;0.95	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.36672	1.1	0.80722	D	1	B;D;P	0.89917	0.42;1.0;0.801	B;D;B	0.74348	0.143;0.983;0.284	T	0.49799	-0.8901	9	.	.	.	-12.1292	17.9193	0.88961	0.0:1.0:0.0:0.0	.	66;66;66	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	S	66	ENSP00000345513:P66S;ENSP00000433927:P66S;ENSP00000306344:P66S	.	P	+	1	0	TMEM135	86456438	1.000000	0.71417	0.979000	0.43373	0.782000	0.44232	6.965000	0.76067	2.488000	0.83962	0.655000	0.94253	CCT		0.373	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		25	41	0	0	0	1	0	25	41				
ZBTB46	140685	broad.mit.edu	37	20	62421395	62421395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62421395C>T	ENST00000245663.4	-	2	866	c.716G>A	c.(715-717)gGa>gAa	p.G239E	ZBTB46_ENST00000302995.2_Missense_Mutation_p.G239E|ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G239E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	239					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTCGCTCCCTCCGTACTGAGA	0.582																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(715-717)gGa>gAa		zinc finger and BTB domain containing 46							82.0	76.0	78.0					20																	62421395		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421395C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.716G>A	20.37:g.62421395C>T	ENSP00000245663:p.Gly239Glu					ZBTB46_ENST00000395104.1_Missense_Mutation_p.G239E|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G239E	p.G239E	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	866	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		239					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.716G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	6.658	0.489875	0.12702	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12465	2.68;2.68;2.68	5.8	3.72	0.42706	.	0.196985	0.44483	N	0.000453	T	0.10594	0.0259	L	0.50333	1.59	0.20703	N	0.999869	B	0.09022	0.002	B	0.04013	0.001	T	0.42396	-0.9454	10	0.02654	T	1	.	9.5592	0.39357	0.0:0.7771:0.1381:0.0848	.	239	Q86UZ6	ZBT46_HUMAN	E	239	ENSP00000245663:G239E;ENSP00000303102:G239E;ENSP00000378536:G239E	ENSP00000245663:G239E	G	-	2	0	ZBTB46	61891839	0.955000	0.32602	0.012000	0.15200	0.014000	0.08584	3.692000	0.54727	0.667000	0.31107	0.655000	0.94253	GGA		0.582	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		35	30	0	0	0	1	0	35	30				
ZDHHC3	51304	broad.mit.edu	37	3	44986677	44986677	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986677G>A	ENST00000424952.2	-	3	682	c.414C>T	c.(412-414)gaC>gaT	p.D138D	ZDHHC3_ENST00000342790.4_Silent_p.D172D|ZDHHC3_ENST00000296127.3_Silent_p.D138D	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	138					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GGTGGGCTCGGTCGGGCTTGA	0.577																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(412-414)gaC>gaT		zinc finger, DHHC-type containing 3							130.0	127.0	128.0					3																	44986677		2203	4300	6503	SO:0001819	synonymous_variant	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44986677G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.414C>T	3.37:g.44986677G>A						ZDHHC3_ENST00000424952.2_Silent_p.D138D|ZDHHC3_ENST00000342790.4_Silent_p.D172D	p.D138D	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	3	687	-			138					Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	c.414C>T	CCDS46811.1																																																																																				0.577	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		47	64	0	0	0	1	0	47	64				
CYLC1	1538	broad.mit.edu	37	X	83128942	83128942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83128942C>T	ENST00000329312.4	+	4	1263	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	409					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCTACTGATTCTGAATCTGAA	0.318																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1225-1227)tCt>tTt		cylicin, basic protein of sperm head cytoskeleton 1							25.0	20.0	22.0					X																	83128942		2188	4282	6470	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128942C>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1226C>T	X.37:g.83128942C>T	ENSP00000331556:p.Ser409Phe						p.S409F	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1263	+			409					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1226C>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	8.626	0.892641	0.17613	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.30981	1.51	3.88	3.01	0.34805	.	.	.	.	.	T	0.32971	0.0847	L	0.29908	0.895	0.31658	N	0.645872	D;D	0.64830	0.987;0.994	P;P	0.57776	0.827;0.827	T	0.33650	-0.9860	9	0.87932	D	0	.	5.7347	0.18059	0.0:0.8511:0.0:0.1489	.	409;409	P35663;F5H4V5	CYLC1_HUMAN;.	F	409	ENSP00000331556:S409F	ENSP00000331556:S409F	S	+	2	0	CYLC1	83015598	0.958000	0.32768	0.887000	0.34795	0.247000	0.25773	-0.422000	0.07043	1.908000	0.55244	0.600000	0.82982	TCT		0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		13	11	0	0	0	1	0	13	11				
KRTAP10-7	386675	broad.mit.edu	37	21	46021343	46021343	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46021343C>T	ENST00000380102.2	+	1	847	c.822C>T	c.(820-822)gtC>gtT	p.V274V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	274	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGTGCCCGTCTGCTGTAAGC	0.627																																						ENST00000380102.2																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(820-822)gtC>gtT		keratin associated protein 10-7							134.0	134.0	134.0					21																	46021343		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021343C>T	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.822C>T	21.37:g.46021343C>T						TSPEAR_ENST00000323084.4_Intron	p.V274V	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	847	+			274			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.822C>T																																																																																					0.627	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		91	50	0	0	0	1	0	91	50				
STRIP2	57464	broad.mit.edu	37	7	129125494	129125494	+	Missense_Mutation	SNP	C	C	T	rs376069671		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129125494C>T	ENST00000249344.2	+	21	2369	c.2329C>T	c.(2329-2331)Cgt>Tgt	p.R777C	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	777					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTTAACAGCCGTCGCTATGA	0.498																																						ENST00000249344.2																			0											c.(2329-2331)Cgt>Tgt		striatin interacting protein 2		C	CYS/ARG	0,4406		0,0,2203	99.0	90.0	93.0		2329	5.0	1.0	7		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM40B	NM_020704.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	777/835	129125494	1,13005	2203	4300	6503	SO:0001583	missense	57464							g.chr7:129125494C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2329C>T	7.37:g.129125494C>T	ENSP00000249344:p.Arg777Cys						p.R777C	NM_020704.2	NP_065755.1					21	2369	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.2329C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815339	0.90790	0.0	1.16E-4	ENSG00000128578	ENST00000249344	T	0.54479	0.57	5.89	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83117	-0.0120	10	0.66056	D	0.02	-18.6932	15.5347	0.75993	0.1384:0.8616:0.0:0.0	.	777	Q9ULQ0	FA40B_HUMAN	C	777	ENSP00000249344:R777C	ENSP00000249344:R777C	R	+	1	0	FAM40B	128912730	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.876000	0.63079	2.788000	0.95919	0.557000	0.71058	CGT		0.498	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		28	35	0	0	0	1	0	28	35				
FAM46D	169966	broad.mit.edu	37	X	79698393	79698393	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79698393G>A	ENST00000308293.5	+	3	594	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	FAM46D_ENST00000538312.1_Missense_Mutation_p.E119K	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	119										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTAAAGAAGGAAAAGCTCTC	0.378																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(355-357)Gaa>Aaa		family with sequence similarity 46, member D							98.0	94.0	95.0					X																	79698393		2203	4297	6500	SO:0001583	missense	169966							g.chrX:79698393G>A	BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.355G>A	X.37:g.79698393G>A	ENSP00000308575:p.Glu119Lys					FAM46D_ENST00000308293.5_Missense_Mutation_p.E119K	p.E119K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	689	+			119					B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	c.355G>A	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	6.998	0.554254	0.13374	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.25579	1.79;1.79	4.27	3.38	0.38709	Domain of unknown function DUF1693 (1);	0.255981	0.38381	N	0.001719	T	0.25901	0.0631	L	0.58925	1.835	0.46336	D	0.998997	B	0.31125	0.309	B	0.35182	0.197	T	0.04825	-1.0924	10	0.28530	T	0.3	-10.6049	10.5471	0.45066	0.1027:0.0:0.8973:0.0	.	119	Q8NEK8	FA46D_HUMAN	K	119	ENSP00000443410:E119K;ENSP00000308575:E119K	ENSP00000308575:E119K	E	+	1	0	FAM46D	79585049	1.000000	0.71417	0.997000	0.53966	0.085000	0.17905	4.896000	0.63222	1.965000	0.57142	0.538000	0.68166	GAA		0.378	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		42	93	0	0	0	1	0	42	93				
TARBP1	6894	broad.mit.edu	37	1	234586268	234586268	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:234586268G>A	ENST00000040877.1	-	10	1766	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	589					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACACGTAGGGGATGGCTTAA	0.353																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(1765-1767)tcC>tcT		TAR (HIV-1) RNA binding protein 1							90.0	85.0	86.0					1																	234586268		2203	4300	6503	SO:0001819	synonymous_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234586268G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.1767C>T	1.37:g.234586268G>A							p.S589S	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		10	1766	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	589					Q9H581	Silent	SNP	ENST00000040877.1	37	c.1767C>T	CCDS1601.1																																																																																				0.353	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		17	31	0	0	0	1	0	17	31				
CHD2	1106	broad.mit.edu	37	15	93486190	93486190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:93486190C>G	ENST00000394196.4	+	9	2012	c.944C>G	c.(943-945)tCt>tGt	p.S315C	CHD2_ENST00000536619.1_Missense_Mutation_p.S328C|CHD2_ENST00000557381.1_Missense_Mutation_p.S315C|CHD2_ENST00000420239.2_Missense_Mutation_p.S315C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	315	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGGGTTGGTCTTACATCCAC	0.428																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(943-945)tCt>tGt		chromodomain helicase DNA binding protein 2							142.0	115.0	124.0					15																	93486190		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93486190C>G	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.944C>G	15.37:g.93486190C>G	ENSP00000377747:p.Ser315Cys					CHD2_ENST00000536619.1_Missense_Mutation_p.S328C|CHD2_ENST00000420239.2_Missense_Mutation_p.S315C|CHD2_ENST00000557381.1_Missense_Mutation_p.S315C	p.S315C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		9	2012	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		315			Chromo 1.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.944C>G	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	32	5.108792	0.94292	.	.	ENSG00000173575	ENST00000394196;ENST00000557381;ENST00000420239;ENST00000536619	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.52	5.52	0.82312	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.33110	U	0.005273	D	0.91246	0.7241	H	0.96269	3.795	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;0.998;0.998	D	0.93399	0.6758	10	0.87932	D	0	-29.3116	19.8041	0.96521	0.0:1.0:0.0:0.0	.	328;315;315;315	B7Z3I4;O14647;O14647-2;Q6AI05	.;CHD2_HUMAN;.;.	C	315;315;315;328	ENSP00000377747:S315C;ENSP00000451366:S315C;ENSP00000406581:S315C;ENSP00000443618:S328C	ENSP00000311700:S68C	S	+	2	0	CHD2	91287194	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.445000	0.80570	2.756000	0.94617	0.563000	0.77884	TCT		0.428	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		32	43	0	0	0	1	0	32	43				
ATP9A	10079	broad.mit.edu	37	20	50255951	50255951	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:50255951G>A	ENST00000338821.5	-	15	1863	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	ATP9A_ENST00000402822.1_Silent_p.I412I|ATP9A_ENST00000311637.5_Silent_p.I397I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	533					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAAGTTCAGGATCTGGTCGC	0.522											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1597-1599)atC>atT		ATPase, class II, type 9A							173.0	144.0	153.0					20																	50255951		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50255951G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1599C>T	20.37:g.50255951G>A			OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	ATP9A_ENST00000402822.1_Silent_p.I412I|ATP9A_ENST00000311637.5_Silent_p.I397I	p.I533I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			15	1863	-			533					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1599C>T	CCDS33489.1																																																																																				0.522	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		41	76	0	0	0	1	0	41	76				
PITPNM2	57605	broad.mit.edu	37	12	123481402	123481402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123481402G>A	ENST00000542749.1	-	10	1591	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	PITPNM2_ENST00000280562.5_Missense_Mutation_p.P510S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P231S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P510S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	510					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCAGCCAGGGGAATGTGGTCC	0.637																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1528-1530)Ccc>Tcc		phosphatidylinositol transfer protein, membrane-associated 2							48.0	47.0	47.0					12																	123481402		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481402G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1528C>T	12.37:g.123481402G>A	ENSP00000437611:p.Pro510Ser					PITPNM2_ENST00000542749.1_Missense_Mutation_p.P510S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P231S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P510S	p.P510S			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	11	1733	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		510					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1528C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634847	0.87760	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.52525	-0.8564	10	0.62326	D	0.03	-27.1429	18.2489	0.89996	0.0:0.0:1.0:0.0	.	510;510	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	S	510;510;231;510	ENSP00000280562:P510S;ENSP00000322218:P510S;ENSP00000376223:P231S;ENSP00000437611:P510S	ENSP00000280562:P510S	P	-	1	0	PITPNM2	122047355	1.000000	0.71417	0.998000	0.56505	0.778000	0.44026	8.054000	0.89451	2.309000	0.77851	0.460000	0.39030	CCC		0.637	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		25	58	0	0	0	1	0	25	58				
PDE6C	5146	broad.mit.edu	37	10	95399918	95399918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95399918G>A	ENST00000371447.3	+	12	1712	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	525					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	ATTAAATGTGGAATACGACTG	0.413																																						ENST00000371447.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1573-1575)gGa>gAa		phosphodiesterase 6C, cGMP-specific, cone, alpha prime							121.0	116.0	118.0					10																	95399918		2203	4300	6503	SO:0001583	missense	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95399918G>A	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1574G>A	10.37:g.95399918G>A	ENSP00000360502:p.Gly525Glu						p.G525E	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN			12	1712	+		Colorectal(252;0.123)	525					A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	c.1574G>A	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714331	0.68730	.	.	ENSG00000095464	ENST00000371447	T	0.77877	-1.13	4.99	4.99	0.66335	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.90045	0.6891	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91224	0.5009	10	0.56958	D	0.05	.	18.4657	0.90753	0.0:0.0:1.0:0.0	.	525	P51160	PDE6C_HUMAN	E	525	ENSP00000360502:G525E	ENSP00000360502:G525E	G	+	2	0	PDE6C	95389908	1.000000	0.71417	0.957000	0.39632	0.411000	0.31082	9.208000	0.95075	2.595000	0.87683	0.563000	0.77884	GGA		0.413	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		54	81	0	0	0	1	0	54	81				
WDR60	55112	broad.mit.edu	37	7	158718982	158718982	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158718982A>T	ENST00000407559.3	+	18	2520	c.2362A>T	c.(2362-2364)Act>Tct	p.T788S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	788					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACCCTTTTCTACTCAAGAAGG	0.388																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2362-2364)Act>Tct		WD repeat domain 60							62.0	58.0	59.0					7																	158718982		1873	4119	5992	SO:0001583	missense	55112							g.chr7:158718982A>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2362A>T	7.37:g.158718982A>T	ENSP00000384290:p.Thr788Ser						p.T788S	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	18	2520	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	788					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2362A>T	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	A	5.874	0.345349	0.11126	.	.	ENSG00000126870	ENST00000407559	T	0.64991	-0.13	5.84	-4.69	0.03299	WD40 repeat-like-containing domain (1);	0.998509	0.08109	N	0.996501	T	0.33147	0.0853	N	0.17082	0.46	0.09310	N	1	B;B	0.19445	0.001;0.036	B;B	0.15052	0.001;0.012	T	0.29549	-1.0008	10	0.06891	T	0.86	-1.9835	3.9903	0.09533	0.2453:0.111:0.4627:0.1811	.	271;788	A4D230;Q8WVS4	.;WDR60_HUMAN	S	788	ENSP00000384290:T788S	ENSP00000384290:T788S	T	+	1	0	WDR60	158411743	0.000000	0.05858	0.004000	0.12327	0.155000	0.21991	-1.044000	0.03532	-0.698000	0.05085	0.533000	0.62120	ACT		0.388	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		8	17	0	0	0	1	0	8	17				
RNF130	55819	broad.mit.edu	37	5	179440081	179440081	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179440081T>A	ENST00000261947.4	-	3	1071	c.673A>T	c.(673-675)Aat>Tat	p.N225Y	RNF130_ENST00000522208.2_Missense_Mutation_p.N225Y|RNF130_ENST00000521389.1_Missense_Mutation_p.N225Y|MIR340_ENST00000362125.1_RNA	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGCGTGCATTTGTGTACCTG	0.433																																					GBM(24;432 554 38471 39699 51728)	ENST00000522208.2																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(673-675)Aat>Tat		ring finger protein 130							191.0	164.0	173.0					5																	179440081		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179440081T>A	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.673A>T	5.37:g.179440081T>A	ENSP00000261947:p.Asn225Tyr					RNF130_ENST00000521389.1_Missense_Mutation_p.N225Y|RNF130_ENST00000261947.4_Missense_Mutation_p.N225Y	p.N225Y			Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	691	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	225						Missense_Mutation	SNP	ENST00000261947.4	37	c.673A>T		.	.	.	.	.	.	.	.	.	.	T	26.6	4.750769	0.89753	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.04970	3.52;3.52;3.53	5.79	5.79	0.91817	.	0.041188	0.85682	D	0.000000	T	0.14743	0.0356	L	0.43152	1.355	0.50632	D	0.999888	D;B	0.59357	0.985;0.036	P;B	0.55667	0.781;0.019	T	0.00397	-1.1765	10	0.52906	T	0.07	.	16.1222	0.81365	0.0:0.0:0.0:1.0	.	242;225	Q59EL1;Q86XS8	.;GOLI_HUMAN	Y	225	ENSP00000429509:N225Y;ENSP00000430237:N225Y;ENSP00000261947:N225Y	ENSP00000261947:N225Y	N	-	1	0	RNF130	179372687	1.000000	0.71417	0.922000	0.36590	0.972000	0.66771	6.175000	0.71949	2.198000	0.70561	0.533000	0.62120	AAT		0.433	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434		59	85	0	0	0	1	0	59	85				
REPS2	9185	broad.mit.edu	37	X	17040363	17040363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:17040363C>T	ENST00000357277.3	+	3	686	c.515C>T	c.(514-516)tCc>tTc	p.S172F	REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	172					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GAAAAAAATTCCTTCAAAAGA	0.393																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(514-516)tCc>tTc		RALBP1 associated Eps domain containing 2							74.0	70.0	71.0					X																	17040363		2203	4300	6503	SO:0001583	missense	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17040363C>T	AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.515C>T	X.37:g.17040363C>T	ENSP00000349824:p.Ser172Phe					REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F	p.S172F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			3	686	+	Hepatocellular(33;0.183)		172					A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	ENST00000357277.3	37	c.515C>T	CCDS14180.2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050006	0.55218	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.37235	1.21;1.35;1.41	5.67	5.67	0.87782	.	0.284575	0.30820	N	0.008809	T	0.29620	0.0739	L	0.54323	1.7	0.33689	D	0.613085	P;P;P	0.37955	0.612;0.492;0.551	B;B;B	0.33890	0.172;0.154;0.11	T	0.33954	-0.9848	10	0.08599	T	0.76	-8.8963	13.272	0.60165	0.0:0.8454:0.1546:0.0	.	33;172;172	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	F	172;172;172;33	ENSP00000349824:S172F;ENSP00000306033:S172F;ENSP00000369404:S33F	ENSP00000306033:S172F	S	+	2	0	REPS2	16950284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.030000	0.49720	2.527000	0.85204	0.600000	0.82982	TCC		0.393	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		27	56	0	0	0	1	0	27	56				
DDX53	168400	broad.mit.edu	37	X	23019811	23019811	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23019811G>A	ENST00000327968.5	+	1	1725	c.1637G>A	c.(1636-1638)aGg>aAg	p.R546K	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	546	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GATTTCCCAAGGAATATTGAC	0.383																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1636-1638)aGg>aAg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							120.0	111.0	114.0					X																	23019811		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019811G>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1637G>A	X.37:g.23019811G>A	ENSP00000368667:p.Arg546Lys					RP11-40F8.2_ENST00000455399.1_RNA	p.R546K	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	1725	+			546			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1637G>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492846	0.26774	.	.	ENSG00000184735	ENST00000327968	T	0.04275	3.66	4.12	-0.362	0.12560	Helicase, C-terminal (3);	0.414587	0.23424	N	0.048327	T	0.03095	0.0091	N	0.17278	0.47	0.09310	N	1	B	0.20988	0.05	B	0.32805	0.153	T	0.44802	-0.9304	10	0.25751	T	0.34	-0.9801	5.1344	0.14926	0.3094:0.1462:0.5444:0.0	.	546	Q86TM3	DDX53_HUMAN	K	546	ENSP00000368667:R546K	ENSP00000368667:R546K	R	+	2	0	DDX53	22929732	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.026000	0.30103	-0.522000	0.06417	0.600000	0.82982	AGG		0.383	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		61	81	0	0	0	1	0	61	81				
PGBD1	84547	broad.mit.edu	37	6	28254883	28254883	+	Missense_Mutation	SNP	C	C	T	rs564381028		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28254883C>T	ENST00000405948.2	+	4	1000	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L194F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	194						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGCTCATCTCCAGGAAAA	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19034	0.0		0.0	False		,,,				2504	0.0					ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(580-582)Ctc>Ttc		piggyBac transposable element derived 1							134.0	111.0	119.0					6																	28254883		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28254883C>T	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.580C>T	6.37:g.28254883C>T	ENSP00000385213:p.Leu194Phe					PGBD1_ENST00000259883.3_Missense_Mutation_p.L194F	p.L194F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			4	1000	+			194					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.580C>T	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025042	0.19433	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01464	4.86;4.86	4.08	2.21	0.28008	.	.	.	.	.	T	0.00608	0.0020	N	0.17082	0.46	0.18873	N	0.999987	D	0.58268	0.982	P	0.52758	0.708	T	0.39375	-0.9617	9	0.09338	T	0.73	-4.2604	4.77	0.13151	0.0:0.6517:0.2269:0.1214	.	194	Q96JS3	PGBD1_HUMAN	F	194	ENSP00000385213:L194F;ENSP00000259883:L194F	ENSP00000259883:L194F	L	+	1	0	PGBD1	28362862	0.750000	0.28316	0.749000	0.31150	0.590000	0.36582	1.418000	0.34782	0.971000	0.38288	0.655000	0.94253	CTC		0.512	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			26	16	0	0	0	1	0	26	16				
SLC7A1	6541	broad.mit.edu	37	13	30098370	30098370	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:30098370G>A	ENST00000380752.5	-	6	1111	c.725C>T	c.(724-726)cCc>cTc	p.P242L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	242					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACCAACACCGGGCTTCCCTTC	0.542																																						ENST00000380752.5																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(724-726)cCc>cTc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						57.0	59.0	58.0					13																	30098370		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30098370G>A	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.725C>T	13.37:g.30098370G>A	ENSP00000370128:p.Pro242Leu						p.P242L	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	6	1111	-		Lung SC(185;0.0257)|Breast(139;0.238)	242					Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.725C>T	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	G	0.860	-0.735498	0.03111	.	.	ENSG00000139514	ENST00000380752	D	0.86627	-2.15	4.23	-1.69	0.08186	Amino acid permease domain (1);	1.625620	0.02900	N	0.135296	T	0.55593	0.1930	N	0.00510	-1.415	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63616	-0.6597	10	0.02654	T	1	.	0.4283	0.00467	0.3803:0.1353:0.1942:0.2902	.	242	P30825	CTR1_HUMAN	L	242	ENSP00000370128:P242L	ENSP00000370128:P242L	P	-	2	0	SLC7A1	28996370	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	0.539000	0.23175	-0.375000	0.07955	0.655000	0.94253	CCC		0.542	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		15	24	0	0	0	1	0	15	24				
DCD	117159	broad.mit.edu	37	12	55039040	55039040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039040C>T	ENST00000293371.6	-	4	395	c.206G>A	c.(205-207)gGc>gAc	p.G69D	DCD_ENST00000456047.2_Missense_Mutation_p.G69D	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TCCGTCTAGGCCTTTTTCTAG	0.488																																						ENST00000456047.2																			0				large_intestine(2)|lung(2)|ovary(1)|skin(1)	6						c.(205-207)gGc>gAc		dermcidin							116.0	110.0	112.0					12																	55039040		2203	4300	6503	SO:0001583	missense	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55039040C>T	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.206G>A	12.37:g.55039040C>T	ENSP00000293371:p.Gly69Asp					DCD_ENST00000293371.6_Missense_Mutation_p.G69D	p.G69D			P81605	DCD_HUMAN			4	395	-		Myeloproliferative disorder(1001;0.0255)	69					A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	37	c.206G>A	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	C	1.280	-0.610491	0.03690	.	.	ENSG00000161634	ENST00000293371;ENST00000456047	.	.	.	2.54	-3.66	0.04489	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B;B	0.27594	0.182;0.182	B;B	0.26416	0.069;0.069	T	0.18461	-1.0336	8	0.87932	D	0	.	0.8751	0.01222	0.1726:0.2384:0.3412:0.2479	.	69;69	A5JHP3;P81605	.;DCD_HUMAN	D	69	.	ENSP00000293371:G69D	G	-	2	0	DCD	53325307	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.128000	0.03247	-0.982000	0.03515	-1.113000	0.02065	GGC		0.488	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		28	47	0	0	0	1	0	28	47				
IL1RAPL1	11141	broad.mit.edu	37	X	29417302	29417302	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:29417302A>T	ENST00000378993.1	+	5	1253	c.580A>T	c.(580-582)Att>Ttt	p.I194F	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I194F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	194	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAGGCCAAGTATTGTATTCAA	0.313																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(580-582)Att>Ttt		interleukin 1 receptor accessory protein-like 1							71.0	69.0	70.0					X																	29417302		2202	4296	6498	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417302A>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.580A>T	X.37:g.29417302A>T	ENSP00000368278:p.Ile194Phe					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I194F	p.I194F	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			5	1253	+			194			Ig-like C2-type 2.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.580A>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470847	0.63625	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.76839	-1.05;-1.05	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060357	0.64402	D	0.000003	D	0.85208	0.5644	M	0.64404	1.975	0.44424	D	0.997347	D	0.60575	0.988	D	0.67900	0.954	D	0.85166	0.0995	9	.	.	.	.	14.1417	0.65325	1.0:0.0:0.0:0.0	.	194	Q9NZN1	IRPL1_HUMAN	F	194	ENSP00000368278:I194F;ENSP00000305200:I194F	.	I	+	1	0	IL1RAPL1	29327223	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.003000	0.63959	1.938000	0.56188	0.425000	0.28330	ATT		0.313	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		31	22	0	0	0	1	0	31	22				
SCRIB	23513	broad.mit.edu	37	8	144887384	144887384	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144887384G>A	ENST00000320476.3	-	19	2574	c.2568C>T	c.(2566-2568)ccC>ccT	p.P856P	SCRIB_ENST00000356994.2_Silent_p.P856P|SCRIB_ENST00000377533.3_Silent_p.P775P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	856	Interaction with ARHGEF7.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGACGGAGGGGCCCGGGGC	0.716																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(2566-2568)ccC>ccT		scribbled planar cell polarity protein							5.0	6.0	6.0					8																	144887384		1976	4044	6020	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144887384G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2568C>T	8.37:g.144887384G>A						SCRIB_ENST00000320476.3_Silent_p.P856P|SCRIB_ENST00000377533.3_Silent_p.P775P	p.P856P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		19	2574	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		856			Interaction with ARHGEF7.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.2568C>T	CCDS6411.1																																																																																				0.716	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	4	0	0	0	1	0	5	4				
PHF12	57649	broad.mit.edu	37	17	27240231	27240231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240231G>A	ENST00000332830.4	-	9	2168	c.1358C>T	c.(1357-1359)cCt>cTt	p.P453L	PHF12_ENST00000577226.1_Missense_Mutation_p.P453L|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCAATGCGAAGGCATCTGCTT	0.498																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1357-1359)cCt>cTt		PHD finger protein 12							151.0	141.0	144.0					17																	27240231		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240231G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1358C>T	17.37:g.27240231G>A	ENSP00000329933:p.Pro453Leu					PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L	p.P453L			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	1704	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		453			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1358C>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477518	0.63849	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94687	-3.44;-3.49;-3.49	5.76	5.76	0.90799	.	0.103897	0.64402	D	0.000003	D	0.91523	0.7323	L	0.43152	1.355	0.80722	D	1	B;B;P;B;B	0.39282	0.164;0.253;0.666;0.22;0.164	B;B;B;B;B	0.35859	0.06;0.128;0.212;0.058;0.06	D	0.90126	0.4203	10	0.27082	T	0.32	-11.9061	18.541	0.91027	0.0:0.0:1.0:0.0	.	435;453;453;453;453	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	L	453	ENSP00000329933:P453L;ENSP00000368157:P453L;ENSP00000268756:P453L	ENSP00000268756:P453L	P	-	2	0	PHF12	24264357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.718000	0.98758	2.724000	0.93272	0.563000	0.77884	CCT		0.498	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		53	77	0	0	0	1	0	53	77				
MST1R	4486	broad.mit.edu	37	3	49934739	49934739	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49934739G>A	ENST00000296474.3	-	7	2184	c.2157C>T	c.(2155-2157)gtC>gtT	p.V719V	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.V719V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	719	IPT/TIG 2.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTCCCATTGACCAGCACAG	0.602																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(2155-2157)gtC>gtT		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							80.0	78.0	79.0					3																	49934739		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49934739G>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2157C>T	3.37:g.49934739G>A						MST1R_ENST00000344206.4_Silent_p.V719V	p.V719V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	7	2184	-			719			IPT/TIG 2.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.2157C>T	CCDS2807.1																																																																																				0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			29	66	0	0	0	1	0	29	66				
ZNRF3	84133	broad.mit.edu	37	22	29445853	29445853	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29445853T>A	ENST00000544604.2	+	8	1859	c.1684T>A	c.(1684-1686)Tgt>Agt	p.C562S	ZNRF3_ENST00000406323.3_Missense_Mutation_p.C462S|ZNRF3_ENST00000332811.4_Missense_Mutation_p.C462S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.C462S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	562					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCAGTGCCACTGTTCCTCCAG	0.637																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(1684-1686)Tgt>Agt		zinc and ring finger 3							25.0	28.0	27.0					22																	29445853		2113	4205	6318	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445853T>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1684T>A	22.37:g.29445853T>A	ENSP00000443824:p.Cys562Ser					ZNRF3_ENST00000332811.4_Missense_Mutation_p.C462S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.C462S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.C462S	p.C562S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1859	+			562					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.1684T>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750925	0.49257	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.44	5.44	0.79542	.	0.183555	0.64402	D	0.000012	T	0.81673	0.4872	M	0.61703	1.905	0.41478	D	0.98814	D	0.58620	0.983	P	0.55615	0.78	T	0.82226	-0.0562	10	0.45353	T	0.12	2.5521	10.7823	0.46384	0.0:0.0:0.1587:0.8413	.	562	Q9ULT6	ZNRF3_HUMAN	S	562;462;269;462;462	ENSP00000443824:C562S;ENSP00000328614:C462S;ENSP00000384456:C462S;ENSP00000384553:C462S	ENSP00000328614:C462S	C	+	1	0	ZNRF3	27775853	1.000000	0.71417	0.999000	0.59377	0.383000	0.30230	4.634000	0.61325	2.059000	0.61396	0.533000	0.62120	TGT		0.637	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		37	38	0	0	0	1	0	37	38				
MYO9A	4649	broad.mit.edu	37	15	72191138	72191138	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72191138C>T	ENST00000356056.5	-	25	4178	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	MYO9A_ENST00000424560.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.E856K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1217K|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1236K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1236	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGGCTCTCTCCTGCTGCTTG	0.458																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3706-3708)Gag>Aag		myosin IXA							164.0	158.0	160.0					15																	72191138		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191138C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3706G>A	15.37:g.72191138C>T	ENSP00000348349:p.Glu1236Lys					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1217K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E856K	p.E1236K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4178	-			1236			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3706G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557504	0.86231	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.85013	-1.93;-1.92;-1.92	5.15	5.15	0.70609	.	.	.	.	.	T	0.81123	0.4757	N	0.24115	0.695	0.47737	D	0.999509	D;B	0.56287	0.975;0.081	P;B	0.50659	0.647;0.012	T	0.77474	-0.2574	9	0.12103	T	0.63	.	16.8255	0.85930	0.0:1.0:0.0:0.0	.	1217;1236	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1236;1236;1217	ENSP00000348349:E1236K;ENSP00000399162:E1236K;ENSP00000398250:E1217K	ENSP00000348349:E1236K	E	-	1	0	MYO9A	69978192	0.992000	0.36948	1.000000	0.80357	0.900000	0.52787	2.752000	0.47516	2.394000	0.81467	0.585000	0.79938	GAG		0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		64	112	0	0	0	1	0	64	112				
ZNF727	442319	broad.mit.edu	37	7	63538590	63538590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:63538590G>A	ENST00000550760.3	+	4	1342	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	388					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AATCATAAGAGAATTCACACT	0.373																																						ENST00000550760.3																			0				endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(1162-1164)aGa>aAa		zinc finger protein 727							22.0	22.0	22.0					7																	63538590		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538590G>A			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1163G>A	7.37:g.63538590G>A	ENSP00000447987:p.Arg388Lys						p.R388K	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			4	1342	+			388						Missense_Mutation	SNP	ENST00000550760.3	37	c.1163G>A	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777389	0.31411	.	.	ENSG00000257482	ENST00000550760	T	0.18338	2.22	1.02	-0.143	0.13444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	N	0.20304	0.555	0.09310	N	0.999992	B	0.17667	0.023	B	0.15870	0.014	T	0.40175	-0.9577	8	.	.	.	.	5.8382	0.18619	0.0:0.0:0.6881:0.3119	.	388	A8MUV8	ZN727_HUMAN	K	388	ENSP00000447987:R388K	.	R	+	2	0	ZNF727	63176025	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	0.639000	0.24690	-0.483000	0.06772	-0.485000	0.04761	AGA		0.373	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		10	7	0	0	0	1	0	10	7				
NBAS	51594	broad.mit.edu	37	2	15567889	15567889	+	Missense_Mutation	SNP	G	G	A	rs373363220		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15567889G>A	ENST00000281513.5	-	22	2394	c.2369C>T	c.(2368-2370)cCt>cTt	p.P790L	NBAS_ENST00000441750.1_Missense_Mutation_p.P790L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	790					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCATGCCAAGGAATGATCAT	0.403																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2368-2370)cCt>cTt		neuroblastoma amplified sequence		G	LEU/PRO	0,4406		0,0,2203	73.0	65.0	68.0		2369	5.6	1.0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	790/2372	15567889	1,13005	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15567889G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2369C>T	2.37:g.15567889G>A	ENSP00000281513:p.Pro790Leu					NBAS_ENST00000441750.1_Missense_Mutation_p.P790L	p.P790L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			22	2394	-			790					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2369C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307725	0.40795	0.0	1.16E-4	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.77	5.61	5.61	0.85477	Secretory pathway Sec39 (1);	0.050763	0.85682	D	0.000000	T	0.28566	0.0707	L	0.36672	1.1	0.41849	D	0.990169	D	0.76494	0.999	D	0.71656	0.974	T	0.00857	-1.1538	10	0.87932	D	0	.	16.3525	0.83220	0.0:0.0:1.0:0.0	.	790	A2RRP1	NBAS_HUMAN	L	790	ENSP00000413201:P790L;ENSP00000281513:P790L	ENSP00000281513:P790L	P	-	2	0	NBAS	15485340	1.000000	0.71417	0.997000	0.53966	0.085000	0.17905	6.366000	0.73095	2.645000	0.89757	0.591000	0.81541	CCT		0.403	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	14	0	0	0	1	0	6	14				
CFAP221	200373	broad.mit.edu	37	2	120362333	120362333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:120362333C>T	ENST00000413369.3	+	9	964	c.877C>T	c.(877-879)Cga>Tga	p.R293*	PCDP1_ENST00000602047.1_Nonsense_Mutation_p.R7*|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AAATTTTCACCGACCGCCAGC	0.448																																						ENST00000602047.1																			0											c.(19-21)Cga>Tga									52.0	56.0	55.0					2																	120362333		2203	4300	6503	SO:0001587	stop_gained	200373					cilium	calmodulin binding	g.chr2:120362333C>T																												ENST00000413369.3:c.877C>T	2.37:g.120362333C>T	ENSP00000393222:p.Arg293*					PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R293*|PCDP1_ENST00000597189.1_3'UTR	p.R7*			Q4G0U5	PCDP1_HUMAN			10	1131	+	Colorectal(110;0.196)		293						Nonsense_Mutation	SNP	ENST00000413369.3	37	c.19C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412500	0.62511	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	5.41	3.39	0.38822	.	0.721746	0.12231	N	0.487469	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.6649	14.0338	0.64632	0.2053:0.7947:0.0:0.0	.	.	.	.	X	7;293	.	ENSP00000295220:R7X	R	+	1	2	AC069154.2	120078803	0.002000	0.14202	0.001000	0.08648	0.115000	0.19883	0.967000	0.29344	0.784000	0.33661	0.655000	0.94253	CGA		0.448	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			22	44	0	0	0	1	0	22	44				
GPR98	84059	broad.mit.edu	37	5	89949315	89949315	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:89949315C>T	ENST00000405460.2	+	20	4020	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1308					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAATTTTCCCCACCACCG	0.483																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3922-3924)ttC>ttT		G protein-coupled receptor 98							105.0	97.0	99.0					5																	89949315		1927	4124	6051	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89949315C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3924C>T	5.37:g.89949315C>T							p.F1308F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	20	4020	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1308					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.3924C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	8.012	0.757664	0.15846	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.38	1.86	0.25419	.	.	.	.	.	T	0.55386	0.1917	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45629	-0.9248	4	.	.	.	.	7.5656	0.27876	0.0:0.369:0.0:0.631	.	.	.	.	S	897	.	.	P	+	1	0	GPR98	89985071	0.844000	0.29557	0.962000	0.40283	0.930000	0.56654	-0.053000	0.11846	0.259000	0.21709	0.650000	0.86243	CCC		0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	14	0	0	0	1	0	10	14				
NOX1	27035	broad.mit.edu	37	X	100117396	100117396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100117396C>T	ENST00000372966.3	-	6	861	c.656G>A	c.(655-657)gGg>gAg	p.G219E	NOX1_ENST00000217885.5_Missense_Mutation_p.G219E|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G182E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	219	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCCGTGAATCCCTAAGCCAAG	0.433																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(655-657)gGg>gAg		NADPH oxidase 1							172.0	171.0	171.0					X																	100117396		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117396C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.656G>A	X.37:g.100117396C>T	ENSP00000362057:p.Gly219Glu					NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G219E|NOX1_ENST00000372960.4_Missense_Mutation_p.G182E	p.G219E	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			6	861	-			219			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.656G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073606	0.20147	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95588	-3.67;-3.75;-3.75	4.34	-8.68	0.00859	.	0.391740	0.24490	N	0.038079	D	0.90448	0.7009	N	0.22421	0.69	0.20975	N	0.999814	P;B;B	0.47841	0.901;0.288;0.336	P;B;B	0.49999	0.628;0.189;0.288	D	0.87600	0.2496	10	0.45353	T	0.12	2.1702	11.6688	0.51389	0.6481:0.1125:0.2395:0.0	.	182;219;219	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	E	219;219;182	ENSP00000362057:G219E;ENSP00000217885:G219E;ENSP00000362051:G182E	ENSP00000217885:G219E	G	-	2	0	NOX1	100004052	0.793000	0.28825	0.002000	0.10522	0.707000	0.40811	1.591000	0.36665	-2.404000	0.00576	-1.269000	0.01422	GGG		0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		86	173	0	0	0	1	0	86	173				
CNTN5	53942	broad.mit.edu	37	11	100061937	100061937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:100061937G>A	ENST00000524871.1	+	14	1950	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	554	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTGCCGAGGGGAAAACGTCTT	0.408																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1660-1662)Gaa>Aaa		contactin 5							69.0	71.0	71.0					11																	100061937		1834	4084	5918	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100061937G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1660G>A	11.37:g.100061937G>A	ENSP00000435637:p.Glu554Lys					CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K	p.E554K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	14	1950	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	554			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1660G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409045	0.83340	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133117	0.64402	D	0.000002	T	0.63965	0.2556	N	0.16307	0.4	0.43936	D	0.996592	B;B;B	0.33841	0.428;0.374;0.428	B;B;P	0.45577	0.36;0.354;0.486	T	0.64041	-0.6500	10	0.44086	T	0.13	.	18.7762	0.91912	0.0:0.0:1.0:0.0	.	554;480;554	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	K	554;554;554;480;554	ENSP00000433575:E554K;ENSP00000436185:E554K;ENSP00000435637:E554K;ENSP00000393229:E480K;ENSP00000279463:E554K	ENSP00000279463:E554K	E	+	1	0	CNTN5	99567147	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.873000	0.69644	2.758000	0.94735	0.650000	0.86243	GAA		0.408	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		11	19	0	0	0	1	0	11	19				
GPR98	84059	broad.mit.edu	37	5	90106721	90106721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90106721C>T	ENST00000405460.2	+	74	15740	c.15644C>T	c.(15643-15645)tCc>tTc	p.S5215F	GPR98_ENST00000425867.2_Missense_Mutation_p.S876F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5215					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S5215F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCAATGTTTCCATTCATGGA	0.458																																						ENST00000405460.2																			1	Substitution - Missense(1)	p.S5215F(1)	skin(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15643-15645)tCc>tTc		G protein-coupled receptor 98							85.0	81.0	82.0					5																	90106721		1928	4150	6078	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106721C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15644C>T	5.37:g.90106721C>T	ENSP00000384582:p.Ser5215Phe					GPR98_ENST00000425867.2_Missense_Mutation_p.S876F	p.S5215F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15740	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5215					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15644C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.006995	0.02112	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28255	1.65;1.62	5.07	3.29	0.37713	.	0.822214	0.11488	N	0.559039	T	0.25457	0.0619	L	0.47716	1.5	0.09310	N	1	B;B;B	0.14012	0.005;0.0;0.009	B;B;B	0.16289	0.006;0.0;0.015	T	0.24154	-1.0168	9	.	.	.	.	7.1837	0.25786	0.0:0.6559:0.0:0.3441	.	876;5215;876	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	F	5215;5215;876	ENSP00000384582:S5215F;ENSP00000392618:S876F	.	S	+	2	0	GPR98	90142477	0.002000	0.14202	0.001000	0.08648	0.134000	0.20937	0.742000	0.26216	0.652000	0.30806	0.563000	0.77884	TCC		0.458	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		28	39	0	0	0	1	0	28	39				
OR4D10	390197	broad.mit.edu	37	11	59245051	59245051	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59245051C>T	ENST00000530162.1	+	1	206	c.149C>T	c.(148-150)aCc>aTc	p.T50I		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCACTGTTACCTGTGAATCT	0.448																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(148-150)aCc>aTc		olfactory receptor, family 4, subfamily D, member 10							188.0	194.0	192.0					11																	59245051		2143	4273	6416	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245051C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.149C>T	11.37:g.59245051C>T	ENSP00000436424:p.Thr50Ile						p.T50I	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	206	+			50					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.149C>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	7.461	0.644636	0.14451	.	.	ENSG00000254466	ENST00000530162	T	0.01068	5.38	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01124	0.0037	N	0.13168	0.305	0.27396	N	0.954991	B	0.23490	0.086	B	0.20767	0.031	T	0.50676	-0.8800	9	0.21014	T	0.42	.	15.9111	0.79473	0.0:1.0:0.0:0.0	.	50	Q8NGI6	OR4DA_HUMAN	I	50	ENSP00000436424:T50I	ENSP00000436424:T50I	T	+	2	0	OR4D10	59001627	0.000000	0.05858	0.651000	0.29564	0.017000	0.09413	-0.211000	0.09332	2.134000	0.65973	0.655000	0.94253	ACC		0.448	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		52	107	0	0	0	1	0	52	107				
OR14C36	127066	broad.mit.edu	37	1	248512100	248512100	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248512100G>A	ENST00000317861.1	+	1	24	c.24G>A	c.(22-24)atG>atA	p.M8I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCACCGTGATGGAATTTCTCC	0.413																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(22-24)atG>atA		olfactory receptor, family 14, subfamily C, member 36							141.0	130.0	134.0					1																	248512100		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512100G>A	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.24G>A	1.37:g.248512100G>A	ENSP00000324534:p.Met8Ile						p.M8I	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	24	+			8					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.24G>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540095	0.27563	.	.	ENSG00000177174	ENST00000317861	T	0.00452	7.34	3.81	-7.61	0.01299	.	0.551706	0.14765	U	0.299770	T	0.00178	0.0005	N	0.26162	0.8	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45542	-0.9254	10	0.56958	D	0.05	.	2.7687	0.05328	0.2378:0.0907:0.1276:0.5439	.	8	Q8NHC7	O14CZ_HUMAN	I	8	ENSP00000324534:M8I	ENSP00000324534:M8I	M	+	3	0	OR14C36	246578723	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-2.117000	0.01326	-1.928000	0.01059	0.395000	0.25975	ATG		0.413	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		19	15	0	0	0	1	0	19	15				
MXD1	4084	broad.mit.edu	37	2	70162484	70162484	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:70162484C>T	ENST00000264444.2	+	4	465	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	MXD1_ENST00000540449.1_Splice_Site_p.R59W	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	69	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTTTCATAGACGGGCTCATCT	0.498																																						ENST00000264444.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.e4-1		MAX dimerization protein 1							86.0	76.0	80.0					2																	70162484		2203	4300	6503	SO:0001630	splice_region_variant	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70162484C>T		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.204-1C>T	2.37:g.70162484C>T						MXD1_ENST00000540449.1_Splice_Site_p.R59_splice	p.R69_splice	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN			4	465	+			69					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Splice_Site	SNP	ENST00000264444.2	37	c.203_splice	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947866	0.92593	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	D;D;D	0.99232	-5.6;-5.6;-5.6	5.94	5.94	0.96194	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.98;0.967;0.997	D	0.98364	1.0550	10	0.87932	D	0	.	18.939	0.92598	0.0:1.0:0.0:0.0	.	59;69;69	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	W	37;69;59	ENSP00000410672:R37W;ENSP00000264444:R69W;ENSP00000443935:R59W	ENSP00000264444:R69W	R	+	1	2	MXD1	70015988	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	5.747000	0.68689	2.826000	0.97356	0.555000	0.69702	CGG		0.498	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357	Missense_Mutation	16	31	0	0	0	1	0	16	31				
TPRX1	284355	broad.mit.edu	37	19	48305272	48305272	+	Silent	SNP	G	G	A	rs149923413		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48305272G>A	ENST00000322175.3	-	2	1151	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TPRX1_ENST00000543508.1_Silent_p.P322P|TPRX1_ENST00000535759.1_Silent_p.P429P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	332						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GAGGCCATAAGggggctgggg	0.622																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1285-1287)ccC>ccT		tetra-peptide repeat homeobox 1		G		0,4406		0,0,2203	37.0	39.0	39.0		996	-2.5	0.0	19	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TPRX1	NM_198479.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		332/412	48305272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305272G>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.996C>T	19.37:g.48305272G>A						TPRX1_ENST00000543508.1_Silent_p.P322P|TPRX1_ENST00000322175.3_Silent_p.P332P	p.P429P			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1286	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	332					A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.1287C>T	CCDS33066.1																																																																																				0.622	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		18	32	0	0	0	1	0	18	32				
NOTCH2	4853	broad.mit.edu	37	1	120512305	120512305	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:120512305C>T	ENST00000256646.2	-	6	1156	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	313	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.G313C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACAGGTGCCCCCATTTTGA	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		1	Substitution - Missense(1)	p.G313C(1)	skin(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(937-939)Ggc>Agc		notch 2							141.0	109.0	120.0					1																	120512305		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512305C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.937G>A	1.37:g.120512305C>T	ENSP00000256646:p.Gly313Ser						p.G313S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1156	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	313			EGF-like 8; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.937G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692398	0.96793	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.81996	-1.56	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	U	0.001642	D	0.90431	0.7004	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.967;0.991;1.0	D	0.90443	0.4433	10	0.62326	D	0.03	.	18.8873	0.92383	0.0:1.0:0.0:0.0	.	274;313;313	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	S	313;274	ENSP00000256646:G313S	ENSP00000256646:G313S	G	-	1	0	NOTCH2	120313828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.708000	0.92522	0.655000	0.94253	GGC		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		16	25	0	0	0	1	0	16	25				
PRKDC	5591	broad.mit.edu	37	8	48826618	48826618	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:48826618G>A	ENST00000314191.2	-	24	2680	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S875F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	875					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTCATCTGAGGACGTGACTGT	0.388								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(2623-2625)tCc>tTc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							64.0	62.0	62.0					8																	48826618		1909	4132	6041	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48826618G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2624C>T	8.37:g.48826618G>A	ENSP00000313420:p.Ser875Phe					PRKDC_ENST00000338368.3_Missense_Mutation_p.S875F|PRKDC_ENST00000523565.1_5'UTR	p.S875F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			24	2680	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	875					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2624C>T		.	.	.	.	.	.	.	.	.	.	G	17.81	3.479956	0.63849	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02944	4.17;4.1	4.7	3.82	0.43975	.	0.758088	0.12020	N	0.507072	T	0.10078	0.0247	.	.	.	0.33144	D	0.544768	P;D;D	0.56746	0.951;0.977;0.96	P;P;P	0.57057	0.812;0.723;0.723	T	0.09079	-1.0691	9	0.72032	D	0.01	.	11.9744	0.53083	0.0849:0.0:0.9151:0.0	.	875;875;875	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	F	875	ENSP00000313420:S875F;ENSP00000345182:S875F	ENSP00000313420:S875F	S	-	2	0	PRKDC	48989171	1.000000	0.71417	0.005000	0.12908	0.048000	0.14542	9.034000	0.93747	1.077000	0.40990	0.563000	0.77884	TCC		0.388	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		17	29	0	0	0	1	0	17	29				
PTPN12	5782	broad.mit.edu	37	7	77240343	77240343	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240343C>T	ENST00000248594.6	+	11	1191	c.919C>T	c.(919-921)Cag>Tag	p.Q307*	PTPN12_ENST00000415482.2_Nonsense_Mutation_p.Q188*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.Q177*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	307					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATGGAGCTCAGAAAATTGC	0.323																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(919-921)Cag>Tag		protein tyrosine phosphatase, non-receptor type 12							129.0	143.0	139.0					7																	77240343		2203	4299	6502	SO:0001587	stop_gained	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77240343C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.919C>T	7.37:g.77240343C>T	ENSP00000248594:p.Gln307*					PTPN12_ENST00000415482.2_Nonsense_Mutation_p.Q188*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.Q177*	p.Q307*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			11	1191	+			307					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	c.919C>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665821	0.96745	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	.	.	.	5.47	4.36	0.52297	.	0.620437	0.17612	N	0.168048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	3.4707	0.07566	0.0:0.5448:0.2754:0.1799	.	.	.	.	X	307;188;188;177	.	ENSP00000248594:Q307X	Q	+	1	0	PTPN12	77078279	0.960000	0.32886	0.976000	0.42696	0.920000	0.55202	1.880000	0.39628	2.714000	0.92807	0.655000	0.94253	CAG		0.323	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			59	93	0	0	0	1	0	59	93				
GPKOW	27238	broad.mit.edu	37	X	48974028	48974028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48974028C>T	ENST00000156109.5	-	5	781	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	235						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						GGCTGATCTTCCTTATCTTTC	0.607																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(703-705)Gaa>Aaa		G patch domain and KOW motifs							70.0	64.0	66.0					X																	48974028		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48974028C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.703G>A	X.37:g.48974028C>T	ENSP00000156109:p.Glu235Lys						p.E235K	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			5	781	-			235					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.703G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313935	0.60414	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.88	4.88	0.63580	.	0.312522	0.37669	N	0.001986	T	0.61135	0.2323	M	0.70595	2.14	0.58432	D	0.999997	P	0.47762	0.9	P	0.45946	0.498	T	0.59947	-0.7358	9	0.19590	T	0.45	-3.4025	16.0921	0.81098	0.0:1.0:0.0:0.0	.	235	Q92917	GPKOW_HUMAN	K	235	.	ENSP00000156109:E235K	E	-	1	0	GPKOW	48860972	1.000000	0.71417	0.341000	0.25589	0.088000	0.18126	1.924000	0.40065	2.405000	0.81733	0.600000	0.82982	GAA		0.607	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		29	50	0	0	0	1	0	29	50				
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:15760852C>T	ENST00000378076.3	-	2	609	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	86					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(256-258)Gat>Aat		integrin, alpha 8							108.0	94.0	99.0					10																	15760852		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760852C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.256G>A	10.37:g.15760852C>T	ENSP00000367316:p.Asp86Asn						p.D86N	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			2	609	-			86					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.256G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030365	0.35797	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.82255	-1.59	4.79	2.96	0.34315	.	0.155147	0.56097	D	0.000022	T	0.73187	0.3555	N	0.16708	0.43	0.33724	D	0.617412	D;D	0.62365	0.991;0.984	P;P	0.51193	0.662;0.461	T	0.73275	-0.4034	10	0.16420	T	0.52	.	8.7637	0.34689	0.0:0.7734:0.1296:0.0969	.	86;86	F5H818;P53708	.;ITA8_HUMAN	N	86	ENSP00000367316:D86N	ENSP00000367316:D86N	D	-	1	0	ITGA8	15800858	0.955000	0.32602	0.532000	0.27989	0.437000	0.31866	2.277000	0.43417	0.643000	0.30638	-1.073000	0.02249	GAT		0.577	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		33	71	0	0	0	1	0	33	71				
MYH2	4620	broad.mit.edu	37	17	10440653	10440653	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10440653C>T	ENST00000245503.5	-	16	2178	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	MYH2_ENST00000397183.2_Silent_p.E598E|MYH2_ENST00000532183.2_Silent_p.E598E|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	598	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTTGTTCTTCTCCAGCCAGC	0.522																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1792-1794)gaG>gaA		myosin, heavy chain 2, skeletal muscle, adult							133.0	135.0	135.0					17																	10440653		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440653C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1794G>A	17.37:g.10440653C>T						MYH2_ENST00000397183.2_Silent_p.E598E|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.E598E	p.E598E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			16	2178	-			598			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1794G>A	CCDS11156.1																																																																																				0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		58	98	0	0	0	1	0	58	98				
DUSP12	11266	broad.mit.edu	37	1	161722871	161722871	+	Silent	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161722871A>T	ENST00000367943.4	+	5	713	c.681A>T	c.(679-681)tcA>tcT	p.S227S		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	227					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GCAGGCGATCATTATTTCGAA	0.413																																						ENST00000367943.4																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)	5						c.(679-681)tcA>tcT		dual specificity phosphatase 12							149.0	142.0	144.0					1																	161722871		2203	4300	6503	SO:0001819	synonymous_variant	11266				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding	g.chr1:161722871A>T	AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3067	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"""	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.681A>T	1.37:g.161722871A>T						DUSP12_ENST00000484291.1_3'UTR	p.S227S	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		5	713	+	all_hematologic(112;0.0359)		227					Q5VXA8	Silent	SNP	ENST00000367943.4	37	c.681A>T	CCDS1234.1																																																																																				0.413	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083588.1	NM_007240		52	55	0	0	0	1	0	52	55				
LRP2	4036	broad.mit.edu	37	2	170177351	170177351	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170177351G>A	ENST00000263816.3	-	2	408	c.123C>T	c.(121-123)atC>atT	p.I41I	LRP2_ENST00000443831.1_Silent_p.I41I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	41	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTCTGCAGGGATGCAATGCC	0.453																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(121-123)atC>atT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						141.0	116.0	125.0					2																	170177351		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170177351G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.123C>T	2.37:g.170177351G>A						LRP2_ENST00000443831.1_Silent_p.I41I	p.I41I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	2	408	-			41			LDL-receptor class A 1.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.123C>T	CCDS2232.1																																																																																				0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	42	0	0	0	1	0	28	42				
CES1	1066	broad.mit.edu	37	16	55846853	55846853	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:55846853C>T	ENST00000361503.4	-	9	1175	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	CES1_ENST00000360526.3_Missense_Mutation_p.G350R|CES1_ENST00000422046.2_Missense_Mutation_p.G349R			P23141	EST1_HUMAN	carboxylesterase 1	349					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTGTTAATTCCGACCATGTAG	0.512																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1045-1047)Gga>Aga		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						134.0	125.0	128.0					16																	55846853		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55846853C>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1045G>A	16.37:g.55846853C>T	ENSP00000355193:p.Gly349Arg					CES1_ENST00000360526.3_Missense_Mutation_p.G350R|CES1_ENST00000361503.4_Missense_Mutation_p.G349R	p.G349R			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	9	1326	-			349					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1045G>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.375714	0.42105	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	D;D;D	0.86694	-2.16;-2.16;-2.16	4.18	4.18	0.49190	Carboxylesterase, type B (1);	0.000000	0.56097	D	0.000036	D	0.96546	0.8873	H	0.99659	4.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97988	1.0353	10	0.87932	D	0	.	14.0711	0.64861	0.0:1.0:0.0:0.0	.	349;349;350	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	R	350;349;349;214	ENSP00000353720:G350R;ENSP00000355193:G349R;ENSP00000390492:G349R	ENSP00000353720:G350R	G	-	1	0	CES1	54404354	0.998000	0.40836	0.093000	0.20910	0.003000	0.03518	5.957000	0.70323	1.907000	0.55213	0.456000	0.33151	GGA		0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		40	106	0	0	0	1	0	40	106				
VCAM1	7412	broad.mit.edu	37	1	101188698	101188698	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101188698G>A	ENST00000294728.2	+	3	564	c.463G>A	c.(463-465)Gga>Aga	p.G155R	VCAM1_ENST00000370119.4_Missense_Mutation_p.G93R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G155R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G155R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	155	Ig-like C2-type 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTTACTGAAAGGAGATCATCT	0.468																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(463-465)Gga>Aga		vascular cell adhesion molecule 1	Carvedilol(DB01136)						89.0	84.0	86.0					1																	101188698		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101188698G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.463G>A	1.37:g.101188698G>A	ENSP00000294728:p.Gly155Arg					VCAM1_ENST00000370119.4_Missense_Mutation_p.G93R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G155R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G155R	p.G155R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	3	564	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	155			Ig-like C2-type 2.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.463G>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104174	0.37145	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.63	4.72	0.59763	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.506791	0.23704	N	0.045394	T	0.16938	0.0407	M	0.80183	2.485	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.989	D;D;P	0.71414	0.973;0.947;0.902	T	0.06427	-1.0827	10	0.62326	D	0.03	-2.7324	11.8629	0.52476	0.0821:0.0:0.9179:0.0	.	93;155;155	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	R	93;155;155;155	ENSP00000359137:G93R;ENSP00000304611:G155R;ENSP00000294728:G155R;ENSP00000359133:G155R	ENSP00000294728:G155R	G	+	1	0	VCAM1	100961286	0.414000	0.25408	0.011000	0.14972	0.132000	0.20833	3.090000	0.50191	1.521000	0.48983	0.591000	0.81541	GGA		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		12	29	0	0	0	1	0	12	29				
ZNF812	729648	broad.mit.edu	37	19	9800843	9800843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9800843C>T	ENST00000457674.2	-	5	1854	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	446					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(1)	1						cccTTATATTCATAGGGTTCC	0.388																																						ENST00000457674.2																			0				ovary(1)	1						c.(1336-1338)Gaa>Aaa		zinc finger protein 812																																				SO:0001583	missense	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9800843C>T		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.1336G>A	19.37:g.9800843C>T	ENSP00000395629:p.Glu446Lys					ZNF812_ENST00000536819.1_5'UTR	p.E446K	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1854	-			446						Missense_Mutation	SNP	ENST00000457674.2	37	c.1336G>A	CCDS54215.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.769665	0.49680	.	.	ENSG00000224689	ENST00000457674	T	0.05139	3.49	1.42	1.42	0.22433	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10380	0.0254	L	0.28504	0.86	0.26025	N	0.981816	D	0.69078	0.997	D	0.77004	0.989	T	0.32188	-0.9916	9	0.14656	T	0.56	.	6.2398	0.20785	0.0:1.0:0.0:0.0	.	446	P0C7V5	ZN812_HUMAN	K	446	ENSP00000395629:E446K	ENSP00000395629:E446K	E	-	1	0	ZNF812	9661843	0.000000	0.05858	0.048000	0.18961	0.033000	0.12548	-1.919000	0.01572	1.070000	0.40811	0.195000	0.17529	GAA		0.388	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			5	3	0	0	0	1	0	5	3				
GYS1	2997	broad.mit.edu	37	19	49494739	49494739	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49494739C>T	ENST00000323798.3	-	2	316	c.120G>A	c.(118-120)gtG>gtA	p.V40V	GYS1_ENST00000457974.1_5'UTR|RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000540532.1_Intron|RUVBL2_ENST00000601968.1_5'Flank|RUVBL2_ENST00000595090.1_5'Flank|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Splice_Site_p.V40V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	40					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGATGCCACCCACTGTGGGCC	0.677																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e2-1		glycogen synthase 1 (muscle)							94.0	104.0	100.0					19																	49494739		2203	4299	6502	SO:0001630	splice_region_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49494739C>T		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.119-1G>A	19.37:g.49494739C>T						GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Splice_Site_p.V40_splice|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR	p.V40_splice	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	2	316	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	40					Q9BTT9	Splice_Site	SNP	ENST00000323798.3	37	c.118_splice	CCDS12747.1																																																																																				0.677	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103	Silent	67	110	0	0	0	1	0	67	110				
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:8678311C>T	ENST00000338037.6	+	11	1075	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000378641.3_Missense_Mutation_p.R350C	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	350	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R350C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522																																						ENST00000378641.3																			1	Substitution - Missense(1)	p.R350C(1)	NS(1)	NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(1048-1050)Cgc>Tgc		phospholipase C, beta 1 (phosphoinositide-specific)							239.0	209.0	219.0					20																	8678311		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678311C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1048C>T	20.37:g.8678311C>T	ENSP00000338185:p.Arg350Cys					PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C	p.R350C	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			11	1523	+			350			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1048C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381277	0.82792	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66460	-0.21;-0.21;-0.21	5.65	4.68	0.58851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.132739	0.64402	D	0.000012	D	0.86314	0.5903	H	0.95187	3.635	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.68621	0.93;0.959	D	0.90026	0.4131	10	0.66056	D	0.02	.	16.0179	0.80457	0.1349:0.8651:0.0:0.0	.	350;350	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	C	350;350;350;270;270	ENSP00000367908:R350C;ENSP00000338185:R350C;ENSP00000367904:R350C	ENSP00000338185:R350C	R	+	1	0	PLCB1	8626311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.662000	0.90505	0.655000	0.94253	CGC		0.522	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			52	77	0	0	0	1	0	52	77				
OR8K5	219453	broad.mit.edu	37	11	55927656	55927656	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55927656G>A	ENST00000313447.1	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I46I(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TGGTCAAAATGATCATAGTTA	0.433																																						ENST00000313447.1																			1	Substitution - coding silent(1)	p.I46I(1)	lung(1)	large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(136-138)atC>atT		olfactory receptor, family 8, subfamily K, member 5							141.0	137.0	139.0					11																	55927656		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927656G>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.138C>T	11.37:g.55927656G>A							p.I46I	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	137	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	46					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.138C>T	CCDS31521.1																																																																																				0.433	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		37	74	0	0	0	1	0	37	74				
DOCK1	1793	broad.mit.edu	37	10	128822988	128822988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:128822988G>A	ENST00000280333.6	+	15	1538	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	RP11-223P11.3_ENST00000608350.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000432554.2_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	477	DHR-1.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCGATTTCAGAGTACAAATC	0.398																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(1429-1431)Gag>Aag		dedicator of cytokinesis 1							97.0	94.0	95.0					10																	128822988		1921	4137	6058	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128822988G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1429G>A	10.37:g.128822988G>A	ENSP00000280333:p.Glu477Lys					RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA	p.E477K	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	15	1538	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	477			DHR-1.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.1429G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.476317	0.96291	.	.	ENSG00000150760	ENST00000280333	T	0.14766	2.48	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.92459	3.31	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.65773	0.807;0.938	T	0.60311	-0.7288	10	0.59425	D	0.04	.	18.1863	0.89793	0.0:0.0:1.0:0.0	.	477;477	B2RUU3;Q14185	.;DOCK1_HUMAN	K	477	ENSP00000280333:E477K	ENSP00000280333:E477K	E	+	1	0	DOCK1	128712978	1.000000	0.71417	0.950000	0.38849	0.992000	0.81027	9.595000	0.98260	2.514000	0.84764	0.655000	0.94253	GAG		0.398	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		5	8	0	0	0	1	0	5	8				
RAI1	10743	broad.mit.edu	37	17	17699919	17699919	+	Silent	SNP	C	C	T	rs140500933		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:17699919C>T	ENST00000353383.1	+	3	4126	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	RAI1_ENST00000261641.6_Silent_p.L1219L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1219					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCGGCCCCTCCATGCGCTCA	0.652																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3655-3657)ctC>ctT		retinoic acid induced 1		C		1,4405	4.2+/-10.8	0,1,2202	39.0	45.0	43.0		3657	-1.3	0.2	17	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	RAI1	NM_030665.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1219/1907	17699919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699919C>T	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3657C>T	17.37:g.17699919C>T						RAI1_ENST00000261641.6_Silent_p.L1219L	p.L1219L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4126	+			1219					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.3657C>T	CCDS11188.1																																																																																				0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		18	35	0	0	0	1	0	18	35				
DHH	50846	broad.mit.edu	37	12	49484969	49484969	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49484969G>A	ENST00000266991.2	-	2	813	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	169					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						AGTCGAAGCCGGCTTCCACTG	0.592																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(505-507)gcC>gcT		desert hedgehog							133.0	122.0	125.0					12																	49484969		2203	4300	6503	SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49484969G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.507C>T	12.37:g.49484969G>A						RP11-386G11.8_ENST00000553174.1_RNA	p.A169A	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	813	-			169					Q15794	Silent	SNP	ENST00000266991.2	37	c.507C>T	CCDS8779.1																																																																																				0.592	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		60	99	0	0	0	1	0	60	99				
MED13L	23389	broad.mit.edu	37	12	116406782	116406782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:116406782G>A	ENST00000281928.3	-	28	6394	c.6188C>T	c.(6187-6189)tCt>tTt	p.S2063F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2063						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCAATTCCAGAAGGAGAGCC	0.473																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(6187-6189)tCt>tTt		mediator complex subunit 13-like							82.0	94.0	90.0					12																	116406782		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116406782G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6188C>T	12.37:g.116406782G>A	ENSP00000281928:p.Ser2063Phe						p.S2063F	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	28	6394	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		2063					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.6188C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388284	0.82902	.	.	ENSG00000123066	ENST00000281928	D	0.84223	-1.82	4.78	4.78	0.61160	.	0.060989	0.64402	D	0.000002	D	0.87370	0.6160	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.81914	0.995	D	0.85144	0.0982	10	0.27785	T	0.31	.	15.1356	0.72562	0.0:0.0:1.0:0.0	.	2063	Q71F56	MD13L_HUMAN	F	2063	ENSP00000281928:S2063F	ENSP00000281928:S2063F	S	-	2	0	MED13L	114891165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.107000	0.77047	2.479000	0.83701	0.655000	0.94253	TCT		0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			36	33	0	0	0	1	0	36	33				
TECPR1	25851	broad.mit.edu	37	7	97861195	97861195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861195G>A	ENST00000447648.2	-	13	2194	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	TECPR1_ENST00000379795.3_Missense_Mutation_p.A633V|TECPR1_ENST00000542604.1_Missense_Mutation_p.A562V			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCTCCAGGGCCAAGCGCAC	0.657																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1894-1896)gCc>gTc		tectonin beta-propeller repeat containing 1							59.0	69.0	66.0					7																	97861195		2124	4234	6358	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97861195G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1895C>T	7.37:g.97861195G>A	ENSP00000404923:p.Ala632Val					TECPR1_ENST00000379795.3_Missense_Mutation_p.A633V|TECPR1_ENST00000542604.1_Missense_Mutation_p.A562V	p.A632V			Q7Z6L1	TCPR1_HUMAN			13	2194	-			632			PH.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.1895C>T	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566568	0.86439	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.33654	1.41;1.41;1.4	5.4	4.51	0.55191	Pleckstrin homology domain (1);	0.053609	0.64402	D	0.000001	T	0.55784	0.1942	M	0.64997	1.995	0.37068	D	0.89838	D;D	0.89917	0.995;1.0	P;D	0.68353	0.891;0.957	T	0.64799	-0.6322	10	0.56958	D	0.05	-35.9984	14.6506	0.68794	0.0:0.0:0.8536:0.1464	.	562;632	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	V	632;633;562	ENSP00000404923:A632V;ENSP00000369121:A633V;ENSP00000441121:A562V	ENSP00000369121:A633V	A	-	2	0	TECPR1	97699131	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	5.737000	0.68606	1.264000	0.44198	0.655000	0.94253	GCC		0.657	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		27	39	0	0	0	1	0	27	39				
ETV6	2120	broad.mit.edu	37	12	12022503	12022503	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12022503C>T	ENST00000396373.4	+	5	883	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	203					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCTCCGGTCCCCCCTGGACA	0.632			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""		"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(607-609)tcC>tcT		ets variant 6							125.0	142.0	136.0					12																	12022503		2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022503C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.609C>T	12.37:g.12022503C>T							p.S203S	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			5	883	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	203					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.609C>T	CCDS8643.1																																																																																				0.632	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		86	159	0	0	0	1	0	86	159				
ZNF614	80110	broad.mit.edu	37	19	52519834	52519834	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52519834C>T	ENST00000270649.6	-	5	1561	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGTTTCTCCCCTGTATGAG	0.423																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1015-1017)ggG>ggA		zinc finger protein 614							125.0	117.0	119.0					19																	52519834		2203	4300	6503	SO:0001819	synonymous_variant	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519834C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1017G>A	19.37:g.52519834C>T						ZNF614_ENST00000356322.6_Intron	p.G339G	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1561	-		all_neural(266;0.0505)	339					Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	c.1017G>A	CCDS12847.1																																																																																				0.423	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		52	77	0	0	0	1	0	52	77				
ZNF687	57592	broad.mit.edu	37	1	151261021	151261021	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261021C>T	ENST00000368879.2	+	3	2231	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACCTGCCCCATGATGCTCC	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2131-2133)ccC>ccT		zinc finger protein 687							87.0	79.0	82.0					1																	151261021		2203	4300	6503	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261021C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2133C>T	1.37:g.151261021C>T							p.P711P	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	2231	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		711					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.2133C>T		.	.	.	.	.	.	.	.	.	.	C	9.659	1.143695	0.21205	.	.	ENSG00000143373	ENST00000426871	T	0.28895	1.59	5.25	2.28	0.28536	.	0.000000	0.35096	N	0.003446	T	0.26846	0.0657	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05550	-1.0878	7	0.62326	D	0.03	.	8.2217	0.31545	0.0:0.72:0.1302:0.1498	.	.	.	.	L	314	ENSP00000398821:P314L	ENSP00000398821:P314L	P	+	2	0	ZNF687	149527645	0.862000	0.29867	1.000000	0.80357	0.993000	0.82548	0.558000	0.23469	0.788000	0.33755	0.561000	0.74099	CCA		0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		8	51	0	0	0	1	0	8	51				
RPS6KA6	27330	broad.mit.edu	37	X	83374962	83374962	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83374962C>T	ENST00000262752.2	-	9	727	c.720G>A	c.(718-720)atG>atA	p.M240I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M240I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	240	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTCAGGAGCCATATACTCTA	0.368																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(718-720)atG>atA		ribosomal protein S6 kinase, 90kDa, polypeptide 6							89.0	78.0	82.0					X																	83374962		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83374962C>T	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.720G>A	X.37:g.83374962C>T	ENSP00000262752:p.Met240Ile					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M240I	p.M240I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			9	727	-			240			Protein kinase 1.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.720G>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894989	0.91962	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.27256	1.68;1.68	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.25890	0.77	0.80722	D	1	P;B	0.38677	0.642;0.444	B;B	0.40375	0.327;0.159	T	0.05241	-1.0897	10	0.87932	D	0	.	18.2405	0.89966	0.0:1.0:0.0:0.0	.	240;240	B7ZL90;Q9UK32	.;KS6A6_HUMAN	I	240	ENSP00000262752:M240I;ENSP00000440830:M240I	ENSP00000262752:M240I	M	-	3	0	RPS6KA6	83261618	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.245000	0.73994	0.600000	0.82982	ATG		0.368	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		53	67	0	0	0	1	0	53	67				
GAR1	54433	broad.mit.edu	37	4	110740164	110740164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:110740164C>T	ENST00000226796.6	+	4	641	c.377C>T	c.(376-378)tCa>tTa	p.S126L	GAR1_ENST00000394631.3_Missense_Mutation_p.S126L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	126					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TAGTATTTTTCAGTTAAGTTG	0.299																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(376-378)tCa>tTa		GAR1 ribonucleoprotein							78.0	84.0	82.0					4																	110740164		2202	4299	6501	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110740164C>T	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.377C>T	4.37:g.110740164C>T	ENSP00000226796:p.Ser126Leu					GAR1_ENST00000394631.3_Missense_Mutation_p.S126L	p.S126L	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			4	641	+			126					Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.377C>T	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064699	0.93898	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	5.48	5.48	0.80851	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	D	0.87777	0.2609	9	0.87932	D	0	.	18.9407	0.92604	0.0:1.0:0.0:0.0	.	126;126	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	L	126	.	ENSP00000226796:S126L	S	+	2	0	GAR1	110959613	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.681000	0.74523	2.573000	0.86826	0.591000	0.81541	TCA		0.299	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			26	26	0	0	0	1	0	26	26				
LILRA3	11026	broad.mit.edu	37	19	54802123	54802123	+	Silent	SNP	G	G	A	rs11574608	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54802123G>A	ENST00000251390.3	-	6	1156	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	LILRA3_ENST00000391745.1_Silent_p.F372F|LILRA3_ENST00000391744.3_Silent_p.F291F	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	355	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCAAAAGGAAAGTGTGCA	0.582																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1114-1116)ttC>ttT		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							97.0	85.0	89.0					19																	54802123		2194	4156	6350	SO:0001819	synonymous_variant	11026							g.chr19:54802123G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1065C>T	19.37:g.54802123G>A						LILRA3_ENST00000391744.3_Silent_p.F291F|LILRA3_ENST00000251390.3_Silent_p.F355F	p.F372F						GBM - Glioblastoma multiforme(193;0.105)	10	1432	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.1116C>T	CCDS12887.1																																																																																				0.582	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			38	57	0	0	0	1	0	38	57				
TMED8	283578	broad.mit.edu	37	14	77812759	77812759	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77812759G>T	ENST00000216468.7	-	3	315	c.260C>A	c.(259-261)cCt>cAt	p.P87H		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	87					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGCCTCCAAAGGACCAGTTGC	0.512																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(259-261)cCt>cAt		transmembrane emp24 protein transport domain containing 8							101.0	99.0	100.0					14																	77812759		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77812759G>T	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.260C>A	14.37:g.77812759G>T	ENSP00000216468:p.Pro87His						p.P87H	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	315	-			87					B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.260C>A	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574912	0.13623	.	.	ENSG00000100580	ENST00000216468	T	0.21734	1.99	5.57	3.58	0.41010	.	0.497588	0.24818	N	0.035349	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.10590	-1.0623	10	0.66056	D	0.02	-2.6262	5.7788	0.18294	0.0765:0.1352:0.649:0.1394	.	87	Q6PL24	TMED8_HUMAN	H	87	ENSP00000216468:P87H	ENSP00000216468:P87H	P	-	2	0	TMED8	76882512	0.013000	0.17824	0.041000	0.18516	0.005000	0.04900	1.933000	0.40153	2.624000	0.88883	0.655000	0.94253	CCT		0.512	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		21	50	1	0	1.50039e-11	1	1.51719e-11	21	50				
DNAH9	1770	broad.mit.edu	37	17	11520910	11520910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:11520910C>T	ENST00000262442.4	+	5	1155	c.1087C>T	c.(1087-1089)Cag>Tag	p.Q363*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q363*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	363	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTGCTGCTCCAGGAGATTTG	0.622																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(1087-1089)Cag>Tag		dynein, axonemal, heavy chain 9							61.0	61.0	61.0					17																	11520910		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11520910C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1087C>T	17.37:g.11520910C>T	ENSP00000262442:p.Gln363*					DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q363*	p.Q363*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	5	1155	+		Breast(5;0.0122)|all_epithelial(5;0.131)	363			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.1087C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	40	7.912853	0.98557	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.91	5.91	0.95273	.	0.145308	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.8934	0.96939	0.0:1.0:0.0:0.0	.	.	.	.	X	363	.	ENSP00000262442:Q363X	Q	+	1	0	DNAH9	11461635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.355000	0.79434	2.802000	0.96397	0.655000	0.94253	CAG		0.622	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		31	53	0	0	0	1	0	31	53				
TG	7038	broad.mit.edu	37	8	133885314	133885314	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:133885314G>A	ENST00000220616.4	+	5	526	c.486G>A	c.(484-486)agG>agA	p.R162R	TG_ENST00000377869.1_Silent_p.R162R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	162	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R162S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TAGGTCCAAGGAGCTGTGAAA	0.453																																						ENST00000220616.4																			1	Substitution - Missense(1)	p.R162S(1)	lung(1)	NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(484-486)agG>agA		thyroglobulin							71.0	68.0	69.0					8																	133885314		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885314G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.486G>A	8.37:g.133885314G>A						TG_ENST00000377869.1_Silent_p.R162R	p.R162R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	526	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	162			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.486G>A	CCDS34944.1																																																																																				0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	25	0	0	0	1	0	8	25				
CACTIN	58509	broad.mit.edu	37	19	3623947	3623947	+	Silent	SNP	G	G	A	rs530553549		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3623947G>A	ENST00000429344.2	-	2	433	c.381C>T	c.(379-381)ccC>ccT	p.P127P	CACTIN_ENST00000221899.3_Silent_p.P59P|CACTIN_ENST00000248420.5_Silent_p.P127P	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	127					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGGCCGCCCGGGGGCTCTGGG	0.726													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13417	0.0		0.0	False		,,,				2504	0.0					ENST00000429344.2																			0											c.(379-381)ccC>ccT		cactin, spliceosome C complex subunit							9.0	13.0	12.0					19																	3623947		1892	4042	5934	SO:0001819	synonymous_variant	58509							g.chr19:3623947G>A	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.381C>T	19.37:g.3623947G>A						CACTIN_ENST00000248420.5_Silent_p.P127P|CACTIN_ENST00000221899.3_Silent_p.P59P	p.P127P	NM_001080543.1	NP_001074012.1					2	433	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	ENST00000429344.2	37	c.381C>T	CCDS45920.1																																																																																				0.726	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			6	8	0	0	0	1	0	6	8				
ABRA	137735	broad.mit.edu	37	8	107782411	107782411	+	Missense_Mutation	SNP	G	G	A	rs149782926		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:107782411G>A	ENST00000311955.3	-	1	62	c.8C>T	c.(7-9)cCg>cTg	p.P3L		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTTCGCCCGGAGCCATGCT	0.592																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(7-9)cCg>cTg		actin-binding Rho activating protein		G	LEU/PRO	0,4404		0,0,2202	31.0	35.0	34.0		8	4.8	0.9	8	dbSNP_134	34	1,8581		0,1,4290	yes	missense	ABRA	NM_139166.4	98	0,1,6492	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	3/382	107782411	1,12985	2202	4291	6493	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782411G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.8C>T	8.37:g.107782411G>A	ENSP00000311436:p.Pro3Leu						p.P3L	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	62	-			3						Missense_Mutation	SNP	ENST00000311955.3	37	c.8C>T	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144265	0.57044	0.0	1.17E-4	ENSG00000174429	ENST00000311955	.	.	.	5.66	4.79	0.61399	.	0.350088	0.31051	N	0.008354	T	0.57814	0.2079	L	0.60455	1.87	0.45979	D	0.998798	B	0.28439	0.212	B	0.22880	0.042	T	0.60203	-0.7309	9	0.87932	D	0	-3.7204	13.079	0.59102	0.0743:0.0:0.9257:0.0	.	3	Q8N0Z2	ABRA_HUMAN	L	3	.	ENSP00000311436:P3L	P	-	2	0	ABRA	107851587	0.996000	0.38824	0.875000	0.34327	0.510000	0.34073	2.502000	0.45398	1.376000	0.46267	0.655000	0.94253	CCG		0.592	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		10	38	0	0	0	1	0	10	38				
SOX11	6664	broad.mit.edu	37	2	5833255	5833255	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:5833255C>A	ENST00000322002.3	+	1	457	c.402C>A	c.(400-402)gcC>gcA	p.A134A	AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	134					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCCCAGCGCCAGCCAGAGCC	0.706																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(400-402)gcC>gcA		SRY (sex determining region Y)-box 11							9.0	12.0	11.0					2																	5833255		2154	4254	6408	SO:0001819	synonymous_variant	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833255C>A		CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.402C>A	2.37:g.5833255C>A							p.A134A	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	457	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		134					Q4ZFV8	Silent	SNP	ENST00000322002.3	37	c.402C>A	CCDS1654.1																																																																																				0.706	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		9	14	1	0	9.70103e-10	1	9.78597e-10	9	14				
TIMM44	10469	broad.mit.edu	37	19	7998826	7998826	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7998826C>T	ENST00000270538.3	-	6	874	c.606G>A	c.(604-606)cgG>cgA	p.R202R	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	202					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCTGGGGCCTCCGGTAGGGCC	0.622																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(604-606)cgG>cgA		translocase of inner mitochondrial membrane 44 homolog (yeast)							64.0	79.0	74.0					19																	7998826		2203	4300	6503	SO:0001819	synonymous_variant	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998826C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.606G>A	19.37:g.7998826C>T							p.R202R	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			6	874	-			202					A8K0R9|D6W664|Q8N193	Silent	SNP	ENST00000270538.3	37	c.606G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	8.436	0.849771	0.17034	.	.	ENSG00000104976	ENST00000394102	.	.	.	5.22	-3.06	0.05379	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60156	-0.7318	5	0.87932	D	0	-26.4256	4.0205	0.09664	0.0938:0.2741:0.4395:0.1926	.	.	.	.	S	19	.	ENSP00000377662:P19S	P	+	1	0	SNAPC2	7904826	0.084000	0.21492	0.988000	0.46212	0.772000	0.43724	-0.199000	0.09491	-0.021000	0.14009	-1.157000	0.01802	CCG		0.622	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			26	15	0	0	0	1	0	26	15				
ABHD16A	7920	broad.mit.edu	37	6	31657449	31657449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31657449G>A	ENST00000395952.3	-	12	1152	c.990C>T	c.(988-990)gcC>gcT	p.A330A	ABHD16A_ENST00000440843.2_Silent_p.A297A|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_Silent_p.A111A|ABHD16A_ENST00000471644.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	330						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCACATCCATGGCATTAGCCT	0.597																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(331-333)gcC>gcT		abhydrolase domain containing 16A							94.0	61.0	73.0					6																	31657449		1511	2708	4219	SO:0001819	synonymous_variant	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31657449G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.990C>T	6.37:g.31657449G>A						ABHD16A_ENST00000395952.3_Silent_p.A330A|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.A297A	p.A111A			O95870	ABHGA_HUMAN			12	1319	-			330					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Silent	SNP	ENST00000395952.3	37	c.333C>T	CCDS4713.1																																																																																				0.597	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			10	12	0	0	0	1	0	10	12				
HIF1AN	55662	broad.mit.edu	37	10	102304787	102304787	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102304787C>T	ENST00000299163.6	+	4	757	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	219	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|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)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCTTATTCCCTCCGGATC	0.453																																						ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(655-657)ttC>ttT		hypoxia inducible factor 1, alpha subunit inhibitor							120.0	109.0	113.0					10																	102304787		2203	4300	6503	SO:0001819	synonymous_variant	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102304787C>T	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.657C>T	10.37:g.102304787C>T							p.F219F	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	4	757	+		Colorectal(252;0.234)	219			Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	ENST00000299163.6	37	c.657C>T	CCDS7498.1																																																																																				0.453	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		43	54	0	0	0	1	0	43	54				
ADCY2	108	broad.mit.edu	37	5	7789866	7789866	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7789866C>T	ENST00000338316.4	+	20	2670	c.2581C>T	c.(2581-2583)Ccc>Tcc	p.P861S	ADCY2_ENST00000537121.1_Missense_Mutation_p.P681S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	861					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAACGTGCTTCCCGCGCACGT	0.577																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2581-2583)Ccc>Tcc		adenylate cyclase 2 (brain)							60.0	60.0	60.0					5																	7789866		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789866C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2581C>T	5.37:g.7789866C>T	ENSP00000342952:p.Pro861Ser					ADCY2_ENST00000537121.1_Missense_Mutation_p.P681S	p.P861S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			20	2670	+			861					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2581C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881719	0.91740	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	D;D	0.94650	-3.13;-3.48	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99153	1.0859	10	0.87932	D	0	.	19.2668	0.93990	0.0:1.0:0.0:0.0	.	681;861	B7Z2C1;Q08462	.;ADCY2_HUMAN	S	861;14;694;681	ENSP00000342952:P861S;ENSP00000444803:P681S	ENSP00000342952:P861S	P	+	1	0	ADCY2	7842866	1.000000	0.71417	0.799000	0.32177	0.845000	0.48019	7.542000	0.82095	2.547000	0.85894	0.591000	0.81541	CCC		0.577	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		18	21	0	0	0	1	0	18	21				
CDHR1	92211	broad.mit.edu	37	10	85961613	85961613	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961613C>T	ENST00000372117.3	+	7	679	c.576C>T	c.(574-576)ctC>ctT	p.L192L	CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Silent_p.L192L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGCTGCGCCTCCAGGCTGGGG	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(574-576)ctC>ctT		cadherin-related family member 1							58.0	61.0	60.0					10																	85961613		2203	4300	6503	SO:0001819	synonymous_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85961613C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.576C>T	10.37:g.85961613C>T						CDHR1_ENST00000332904.3_Silent_p.L192L	p.L192L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			7	679	+			192			Cadherin 2.		Q69YZ8|Q8IXY5	Silent	SNP	ENST00000372117.3	37	c.576C>T	CCDS7372.1																																																																																				0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		9	27	0	0	0	1	0	9	27				
COL15A1	1306	broad.mit.edu	37	9	101807031	101807031	+	Missense_Mutation	SNP	G	G	T	rs202203927		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101807031G>T	ENST00000375001.3	+	26	3081	c.2658G>T	c.(2656-2658)atG>atT	p.M886I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	886	Collagen-like 4.|Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AACCTGGAATGCATGGAGCCC	0.463																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2656-2658)atG>atT		collagen, type XV, alpha 1							93.0	88.0	90.0					9																	101807031		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101807031G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2658G>T	9.37:g.101807031G>T	ENSP00000364140:p.Met886Ile						p.M886I	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			26	3081	+		Acute lymphoblastic leukemia(62;0.0562)	886			Triple-helical region 5 (COL5).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.2658G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	7.046	0.563480	0.13498	.	.	ENSG00000204291	ENST00000375001	D	0.92446	-3.04	5.32	-0.297	0.12820	C-type lectin fold (1);	0.868058	0.10375	N	0.682304	T	0.80127	0.4566	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66693	-0.5859	10	0.36615	T	0.2	-0.0142	8.8082	0.34952	0.0:0.4:0.3264:0.2735	.	886	P39059	COFA1_HUMAN	I	886	ENSP00000364140:M886I	ENSP00000364140:M886I	M	+	3	0	COL15A1	100846852	0.000000	0.05858	0.029000	0.17559	0.784000	0.44337	-0.530000	0.06179	-0.042000	0.13535	0.591000	0.81541	ATG		0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		38	9	1	0	1.15505e-17	1	1.17689e-17	38	9				
TWSG1	57045	broad.mit.edu	37	18	9396481	9396481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:9396481C>T	ENST00000262120.5	+	4	618	c.427C>T	c.(427-429)Cca>Tca	p.P143S	TWSG1_ENST00000581641.1_Missense_Mutation_p.P143S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	143					BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						TGTGAACCAGCCACACCACCA	0.443																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(427-429)Cca>Tca		twisted gastrulation BMP signaling modulator 1							84.0	79.0	81.0					18																	9396481		2203	4300	6503	SO:0001583	missense	57045							g.chr18:9396481C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"""twisted gastrulation homolog 1 (Drosophila)"""			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.427C>T	18.37:g.9396481C>T	ENSP00000262120:p.Pro143Ser					TWSG1_ENST00000581641.1_Missense_Mutation_p.P143S	p.P143S	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			4	618	+			143					B2RE08|D3DUH9|Q8NBI7|Q96K46	Missense_Mutation	SNP	ENST00000262120.5	37	c.427C>T	CCDS11844.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457206	0.63401	.	.	ENSG00000128791	ENST00000262120	.	.	.	5.33	5.33	0.75918	.	0.123889	0.53938	D	0.000056	T	0.38453	0.1041	N	0.08118	0	0.51233	D	0.999912	B	0.18013	0.025	B	0.24974	0.057	T	0.28713	-1.0035	9	0.08599	T	0.76	-9.4603	17.9941	0.89177	0.0:1.0:0.0:0.0	.	143	Q9GZX9	TWSG1_HUMAN	S	143	.	ENSP00000262120:P143S	P	+	1	0	TWSG1	9386481	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	4.035000	0.57297	2.506000	0.84524	0.561000	0.74099	CCA		0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			34	53	0	0	0	1	0	34	53				
RAB11FIP2	22841	broad.mit.edu	37	10	119799986	119799986	+	Silent	SNP	G	G	A	rs188765663		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:119799986G>A	ENST00000355624.3	-	2	883	c.444C>T	c.(442-444)acC>acT	p.T148T	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T148T|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	148					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.T148T(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ACATACTTGCGGTCATATTGT	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19811	0.0		0.0	False		,,,				2504	0.0					ENST00000355624.3																			1	Substitution - coding silent(1)	p.T148T(1)	endometrium(1)	cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(442-444)acC>acT		RAB11 family interacting protein 2 (class I)							126.0	107.0	114.0					10																	119799986		2203	4300	6503	SO:0001819	synonymous_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119799986G>A	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.444C>T	10.37:g.119799986G>A						RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T148T	p.T148T	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	883	-		Colorectal(252;0.235)	148					A6NEI4|Q3I768|Q9Y2F0	Silent	SNP	ENST00000355624.3	37	c.444C>T	CCDS7602.1																																																																																				0.338	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		19	33	0	0	0	1	0	19	33				
MUC16	94025	broad.mit.edu	37	19	9089074	9089074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089074G>A	ENST00000397910.4	-	1	2944	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAGGTGGGATGAAGAGAA	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2740-2742)tCc>tTc		mucin 16, cell surface associated							91.0	93.0	93.0					19																	9089074		1999	4173	6172	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089074G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2741C>T	19.37:g.9089074G>A	ENSP00000381008:p.Ser914Phe						p.S914F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2944	-			914			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2741C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.794	0.147724	0.09134	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.55	0.479	0.16796	.	.	.	.	.	T	0.01835	0.0058	N	0.14661	0.345	.	.	.	B	0.23540	0.087	B	0.19148	0.024	T	0.40059	-0.9583	8	0.87932	D	0	.	3.8583	0.08985	0.2412:0.0:0.7588:0.0	.	914	B5ME49	.	F	914	ENSP00000381008:S914F	ENSP00000381008:S914F	S	-	2	0	MUC16	8950074	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-0.221000	0.09202	0.220000	0.20860	0.205000	0.17691	TCC		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	1	0	0	0	1	0	10	1				
MYH3	4621	broad.mit.edu	37	17	10543053	10543053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10543053C>T	ENST00000583535.1	-	23	2836	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	MYH3_ENST00000226209.7_Missense_Mutation_p.E917K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	917					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						ATCTTGGCCTCGAGCTGGAAT	0.438																																						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.(2749-2751)Gag>Aag		myosin, heavy chain 3, skeletal muscle, embryonic							206.0	194.0	198.0					17																	10543053		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543053C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2749G>A	17.37:g.10543053C>T	ENSP00000464317:p.Glu917Lys					MYH3_ENST00000226209.7_Missense_Mutation_p.E917K	p.E917K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			23	2836	-			917					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.2749G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405019	0.83230	.	.	ENSG00000109063	ENST00000226209	D	0.95949	-3.86	5.22	5.22	0.72569	.	.	.	.	.	D	0.98406	0.9470	H	0.97783	4.075	0.51233	D	0.999916	D	0.69078	0.997	P	0.56648	0.803	D	0.99741	1.1015	9	0.87932	D	0	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	917	P11055	MYH3_HUMAN	K	917	ENSP00000226209:E917K	ENSP00000226209:E917K	E	-	1	0	MYH3	10483778	1.000000	0.71417	0.983000	0.44433	0.807000	0.45602	7.800000	0.85949	2.581000	0.87130	0.655000	0.94253	GAG		0.438	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		71	92	0	0	0	1	0	71	92				
DYRK2	8445	broad.mit.edu	37	12	68052290	68052290	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68052290C>T	ENST00000344096.3	+	3	2016	c.1603C>T	c.(1603-1605)Ctg>Ttg	p.L535L	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Silent_p.L462L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	535	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCACCCCTGGCTGAGGAGGCG	0.542																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(1603-1605)Ctg>Ttg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							84.0	89.0	87.0					12																	68052290		2203	4300	6503	SO:0001819	synonymous_variant	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68052290C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1603C>T	12.37:g.68052290C>T						DYRK2_ENST00000393555.3_Silent_p.L462L	p.L535L	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	2016	+			535			Protein kinase.		B2R9V9|Q9BRB5	Silent	SNP	ENST00000344096.3	37	c.1603C>T	CCDS8978.1																																																																																				0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			113	31	0	0	0	1	0	113	31				
TAMM41	132001	broad.mit.edu	37	3	11885623	11885623	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11885623C>T	ENST00000444133.2	-	2	340	c.198G>A	c.(196-198)ctG>ctA	p.L66L	TAMM41_ENST00000455809.1_Silent_p.L66L|TAMM41_ENST00000273037.5_Silent_p.L66L			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	66					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										AATTTTTCTTCAGGTTCTTTG	0.388																																						ENST00000444133.2																			0											c.(196-198)ctG>ctA		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							76.0	77.0	77.0					3																	11885623		2203	4300	6503	SO:0001819	synonymous_variant	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11885623C>T		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.198G>A	3.37:g.11885623C>T						TAMM41_ENST00000455809.1_Silent_p.L66L|TAMM41_ENST00000273037.5_Silent_p.L66L	p.L66L			Q96BW9	MMP37_HUMAN			2	340	-			66					B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37	c.198G>A																																																																																					0.388	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		32	33	0	0	0	1	0	32	33				
CHIA	27159	broad.mit.edu	37	1	111854949	111854949	+	Missense_Mutation	SNP	G	G	A	rs375891484		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:111854949G>A	ENST00000369740.1	+	4	296	c.193G>A	c.(193-195)Gag>Aag	p.E65K	CHIA_ENST00000343320.6_Missense_Mutation_p.E65K|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000483391.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	65					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GCAGAACAACGAGATCACCAC	0.522																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.(193-195)Gag>Aag		chitinase, acidic		G	,LYS/GLU	1,4023		0,1,2011	125.0	121.0	122.0		,193	-4.4	0.0	1		122	0,8358		0,0,4179	no	intron,missense	CHIA	NM_021797.2,NM_201653.2	,56	0,1,6190	AA,AG,GG		0.0,0.0249,0.0081	,benign	,65/477	111854949	1,12381	2012	4179	6191	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111854949G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.193G>A	1.37:g.111854949G>A	ENSP00000358755:p.Glu65Lys					CHIA_ENST00000343320.6_Missense_Mutation_p.E65K|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000483391.1_Intron	p.E65K	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	4	296	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	65					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.193G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	1.193	-0.634629	0.03584	2.49E-4	0.0	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04083	3.71;3.71	4.93	-4.44	0.03557	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.416038	0.20903	U	0.083620	T	0.00815	0.0027	N	0.16478	0.41	0.42256	D	0.991999	B	0.19073	0.033	B	0.20577	0.03	T	0.45190	-0.9278	10	0.14252	T	0.57	-3.647	9.2298	0.37430	0.2199:0.4779:0.3022:0.0	.	65	Q9BZP6	CHIA_HUMAN	K	65	ENSP00000358755:E65K;ENSP00000341828:E65K	ENSP00000341828:E65K	E	+	1	0	CHIA	111656472	0.008000	0.16893	0.001000	0.08648	0.063000	0.16089	0.028000	0.13644	-1.052000	0.03222	-0.797000	0.03246	GAG		0.522	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			28	45	0	0	0	1	0	28	45				
XIRP2	129446	broad.mit.edu	37	2	168100279	168100279	+	Nonsense_Mutation	SNP	C	C	T	rs374843236		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168100279C>T	ENST00000409195.1	+	9	2466	c.2377C>T	c.(2377-2379)Cga>Tga	p.R793*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R571*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R793*|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R793*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGTTGTCCGAGGAATATC	0.403																																						ENST00000409195.1																			1	Substitution - Nonsense(1)	p.R793*(1)	upper_aerodigestive_tract(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2377-2379)Cga>Tga		xin actin-binding repeat containing 2		C	,,stop/ARG,,stop/ARG	1,3699		0,1,1849	71.0	69.0	70.0		,,1711,,2377	3.0	1.0	2		70	0,8182		0,0,4091	no	intron,intron,stop-gained,intron,stop-gained	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,1,5940	TT,TC,CC		0.0,0.027,0.0084	,,,,	,,571/3328,,793/3550	168100279	1,11881	1850	4091	5941	SO:0001587	stop_gained	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100279C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2377C>T	2.37:g.168100279C>T	ENSP00000386840:p.Arg793*					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R793*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R571*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron	p.R793*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2466	+			618					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	c.2377C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	39	7.575311	0.98368	2.7E-4	0.0	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.92	3.05	0.35203	.	0.058183	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8648	7.6032	0.28087	0.4175:0.4953:0.0:0.0872	.	.	.	.	X	793;793;571	.	ENSP00000295237:R793X	R	+	1	2	XIRP2	167808525	0.004000	0.15560	0.999000	0.59377	0.976000	0.68499	-0.064000	0.11636	0.340000	0.23745	0.650000	0.86243	CGA		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	48	0	0	0	1	0	24	48				
ATP11B	23200	broad.mit.edu	37	3	182605425	182605425	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182605425C>T	ENST00000323116.5	+	24	3027	c.2767C>T	c.(2767-2769)Cta>Tta	p.L923L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	923					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTTTACTTCCCTACCTATTCT	0.343																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2767-2769)Cta>Tta		ATPase, class VI, type 11B							154.0	150.0	152.0					3																	182605425		2203	4294	6497	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182605425C>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2767C>T	3.37:g.182605425C>T							p.L923L	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		24	3027	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		923					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.2767C>T	CCDS33896.1																																																																																				0.343	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		31	67	0	0	0	1	0	31	67				
EVC	2121	broad.mit.edu	37	4	5798856	5798856	+	Missense_Mutation	SNP	C	C	T	rs375340438		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:5798856C>T	ENST00000264956.6	+	14	2178	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	EVC_ENST00000382674.2_Missense_Mutation_p.S665L|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	665					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGCGGCTATCGGGGAAGAAG	0.682																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1993-1995)tCg>tTg		Ellis van Creveld syndrome		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	41.0	40.0	41.0		1994	4.1	0.4	4		41	0,8600		0,0,4300	no	missense	EVC	NM_153717.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	665/993	5798856	1,13005	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5798856C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1994C>T	4.37:g.5798856C>T	ENSP00000264956:p.Ser665Leu					EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.S665L	p.S665L			P57679	EVC_HUMAN			14	2178	+		Myeloproliferative disorder(84;0.117)	665						Missense_Mutation	SNP	ENST00000264956.6	37	c.1994C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574612	0.65878	2.27E-4	0.0	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.66815	-0.23;-0.23	5.04	4.13	0.48395	.	0.217468	0.40302	N	0.001131	T	0.65626	0.2709	M	0.63843	1.955	0.80722	D	1	P	0.50066	0.931	P	0.44597	0.454	T	0.71404	-0.4603	10	0.62326	D	0.03	.	12.6057	0.56523	0.0:0.8316:0.1684:0.0	.	665	P57679	EVC_HUMAN	L	665	ENSP00000264956:S665L;ENSP00000372120:S665L	ENSP00000264956:S665L	S	+	2	0	EVC	5849757	0.815000	0.29118	0.393000	0.26258	0.883000	0.51084	1.692000	0.37731	2.351000	0.79841	0.591000	0.81541	TCG		0.682	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			18	23	0	0	0	1	0	18	23				
UNC80	285175	broad.mit.edu	37	2	210640614	210640614	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210640614C>T	ENST00000439458.1	+	3	223	c.143C>T	c.(142-144)tCc>tTc	p.S48F	UNC80_ENST00000272845.6_Splice_Site_p.S48F|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	48					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						tatttACAGTCCTTTGAGCGA	0.408																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.e3-1		unc-80 homolog (C. elegans)							81.0	83.0	82.0					2																	210640614		2203	4300	6503	SO:0001630	splice_region_variant	285175					integral to membrane		g.chr2:210640614C>T	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.142-1C>T	2.37:g.210640614C>T						UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Splice_Site_p.S48_splice	p.S48_splice	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			3	223	+			48					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Splice_Site	SNP	ENST00000439458.1	37	c.141_splice	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528337	0.85706	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.39229	1.09;1.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.77004	0.989;0.965	T	0.65179	-0.6231	10	0.87932	D	0	.	18.7669	0.91876	0.0:1.0:0.0:0.0	.	48;48	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	F	48	ENSP00000391088:S48F;ENSP00000272845:S48F	ENSP00000272845:S48F	S	+	2	0	UNC80	210348859	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.394000	0.79862	2.763000	0.94921	0.650000	0.86243	TCC		0.408	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	Missense_Mutation	37	21	0	0	0	1	0	37	21				
AHDC1	27245	broad.mit.edu	37	1	27878366	27878366	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27878366C>T	ENST00000247087.5	-	5	857	c.261G>A	c.(259-261)cgG>cgA	p.R87R	AHDC1_ENST00000374011.2_Silent_p.R87R			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	87	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GACGGGCTGCCCGTGGGGGCA	0.741																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(259-261)cgG>cgA		AT hook, DNA binding motif, containing 1							29.0	34.0	32.0					1																	27878366		2178	4233	6411	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27878366C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.261G>A	1.37:g.27878366C>T						AHDC1_ENST00000247087.5_Silent_p.R87R|AHDC1_ENST00000482400.2_Intron	p.R87R	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1229	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	87			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.261G>A	CCDS30652.1																																																																																				0.741	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			21	50	0	0	0	1	0	21	50				
HELZ	9931	broad.mit.edu	37	17	65119214	65119214	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65119214G>A	ENST00000358691.5	-	26	3668	c.3502C>T	c.(3502-3504)Ctt>Ttt	p.L1168F	HELZ_ENST00000580168.1_Missense_Mutation_p.L1169F	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1168						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGAGGTCCAAGAGGGGGTGGA	0.433																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3502-3504)Ctt>Ttt		helicase with zinc finger							86.0	84.0	85.0					17																	65119214		1853	4090	5943	SO:0001583	missense	9931							g.chr17:65119214G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3502C>T	17.37:g.65119214G>A	ENSP00000351524:p.Leu1168Phe					HELZ_ENST00000580168.1_Missense_Mutation_p.L1169F	p.L1168F	NM_014877.3	NP_055692.2					26	3668	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.3502C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443789	0.43429	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.5	5.5	0.81552	.	0.117466	0.56097	D	0.000030	D	0.83069	0.5174	L	0.36672	1.1	0.48185	D	0.9996	P;P	0.52842	0.956;0.956	P;P	0.48030	0.564;0.564	T	0.79132	-0.1929	10	0.15952	T	0.53	-15.3501	19.7595	0.96308	0.0:0.0:1.0:0.0	.	1169;1168	B7ZLW2;P42694	.;HELZ_HUMAN	F	1168	ENSP00000351524:L1168F	ENSP00000351524:L1168F	L	-	1	0	HELZ	62549676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.361000	0.52306	2.732000	0.93576	0.650000	0.86243	CTT		0.433	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		27	37	0	0	0	1	0	27	37				
SNX17	9784	broad.mit.edu	37	2	27596751	27596751	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596751G>A	ENST00000233575.2	+	5	567	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Silent_p.E90E|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	115	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCACAGAGGAAGTGTCCT	0.537																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(343-345)gaG>gaA		sorting nexin 17							98.0	87.0	91.0					2																	27596751		2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27596751G>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.345G>A	2.37:g.27596751G>A						SNX17_ENST00000537606.1_Silent_p.E90E|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	p.E115E	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			5	567	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		115			Ras-associating.		B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.345G>A	CCDS1750.1																																																																																				0.537	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		6	19	0	0	0	1	0	6	19				
MEGF6	1953	broad.mit.edu	37	1	3432004	3432004	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:3432004G>A	ENST00000356575.4	-	6	918	c.692C>T	c.(691-693)cCc>cTc	p.P231L	MEGF6_ENST00000294599.4_Missense_Mutation_p.P126L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	231	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGGAACCCGGGCCGGCACTG	0.667																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(691-693)cCc>cTc		multiple EGF-like-domains 6							24.0	32.0	29.0					1																	3432004		2087	4200	6287	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3432004G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.692C>T	1.37:g.3432004G>A	ENSP00000348982:p.Pro231Leu					MEGF6_ENST00000294599.4_Missense_Mutation_p.P126L	p.P231L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	6	918	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	231			EGF-like 3.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.692C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317907	0.23994	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.96685	-4.09;-4.09	4.22	3.27	0.37495	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.366777	0.28140	N	0.016447	D	0.95950	0.8681	L	0.54908	1.71	0.24253	N	0.995313	D;D	0.58970	0.984;0.982	P;D	0.62955	0.764;0.909	D	0.89359	0.3666	10	0.56958	D	0.05	-15.9959	4.6184	0.12438	0.0893:0.1477:0.6116:0.1514	.	231;126	O75095;O75095-2	MEGF6_HUMAN;.	L	126;231	ENSP00000294599:P126L;ENSP00000348982:P231L	ENSP00000294599:P126L	P	-	2	0	MEGF6	3421864	0.099000	0.21834	0.934000	0.37439	0.248000	0.25809	0.400000	0.20932	2.153000	0.67306	0.563000	0.77884	CCC		0.667	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		14	12	0	0	0	1	0	14	12				
SMG1	23049	broad.mit.edu	37	16	18848597	18848597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848597G>A	ENST00000446231.2	-	46	7994	c.7582C>T	c.(7582-7584)Cct>Tct	p.P2528S	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTATGAGAAGGATGATCCACC	0.373																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7582-7584)Cct>Tct		SMG1 phosphatidylinositol 3-kinase-related kinase							181.0	175.0	177.0					16																	18848597		1860	4100	5960	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18848597G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7582C>T	16.37:g.18848597G>A	ENSP00000402515:p.Pro2528Ser					SMG1_ENST00000389467.3_Missense_Mutation_p.P2528S	p.P2528S			Q96Q15	SMG1_HUMAN			46	7994	-			2528					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7582C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029043	0.75504	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01025	5.43;5.43	5.99	5.99	0.97316	Armadillo-type fold (1);	0.084933	0.51477	D	0.000083	T	0.00845	0.0028	N	0.12746	0.255	0.52099	D	0.999942	P	0.49783	0.928	B	0.39706	0.307	T	0.78378	-0.2227	10	0.08179	T	0.78	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	2528	Q96Q15	SMG1_HUMAN	S	2528	ENSP00000402515:P2528S;ENSP00000374118:P2528S	ENSP00000374118:P2528S	P	-	1	0	SMG1	18756098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.555000	0.73928	2.840000	0.97914	0.655000	0.94253	CCT		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		42	106	0	0	0	1	0	42	106				
BCO1	53630	broad.mit.edu	37	16	81320958	81320958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:81320958G>A	ENST00000258168.2	+	10	1822	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	BCMO1_ENST00000425577.2_Nonsense_Mutation_p.W385*	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACGACTGCTGGCCAGCGGAA	0.468																																						ENST00000258168.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						c.(1360-1362)tGg>tAg		beta-carotene 15,15'-monooxygenase 1							80.0	80.0	80.0					16																	81320958		2202	4300	6502	SO:0001587	stop_gained	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81320958G>A																												ENST00000258168.2:c.1361G>A	16.37:g.81320958G>A	ENSP00000258168:p.Trp454*					BCMO1_ENST00000425577.2_Nonsense_Mutation_p.W385*	p.W454*	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN			10	1822	+			454						Nonsense_Mutation	SNP	ENST00000258168.2	37	c.1361G>A	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	G	37	6.365454	0.97507	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	.	.	.	6.0	6.0	0.97389	.	0.191817	0.49305	D	0.000142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-19.6079	19.2591	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	454;385	.	ENSP00000258168:W454X	W	+	2	0	BCMO1	79878459	1.000000	0.71417	1.000000	0.80357	0.345000	0.29048	5.606000	0.67641	2.852000	0.98041	0.591000	0.81541	TGG		0.468	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1			29	56	0	0	0	1	0	29	56				
ZDHHC3	51304	broad.mit.edu	37	3	44986676	44986676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44986676G>A	ENST00000424952.2	-	3	683	c.415C>T	c.(415-417)Cga>Tga	p.R139*	ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R173*|ZDHHC3_ENST00000296127.3_Nonsense_Mutation_p.R139*	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	139					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		TGGTGGGCTCGGTCGGGCTTG	0.582																																						ENST00000296127.3																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(415-417)Cga>Tga		zinc finger, DHHC-type containing 3							130.0	126.0	128.0					3																	44986676		2203	4300	6503	SO:0001587	stop_gained	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44986676G>A	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.415C>T	3.37:g.44986676G>A	ENSP00000395502:p.Arg139*					ZDHHC3_ENST00000424952.2_Nonsense_Mutation_p.R139*|ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R173*	p.R139*	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	3	688	-			139					Q53A17|Q96BL0	Nonsense_Mutation	SNP	ENST00000424952.2	37	c.415C>T	CCDS46811.1	.	.	.	.	.	.	.	.	.	.	G	38	7.245370	0.98161	.	.	ENSG00000163812	ENST00000339420;ENST00000296127;ENST00000424952;ENST00000342790	.	.	.	5.68	3.69	0.42338	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1211	0.53891	0.0:0.0:0.4171:0.5829	.	.	.	.	X	5;139;139;173	.	ENSP00000296127:R139X	R	-	1	2	ZDHHC3	44961680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.548000	0.36201	1.384000	0.46424	0.591000	0.81541	CGA		0.582	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598		44	64	0	0	0	1	0	44	64				
ALX4	60529	broad.mit.edu	37	11	44297187	44297187	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44297187T>G	ENST00000329255.3	-	2	591	c.488A>C	c.(487-489)gAg>gCg	p.E163A		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	163					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TAACTCTGGCTCACCCAGGGA	0.582																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(487-489)gAg>gCg		ALX homeobox 4							40.0	44.0	42.0					11																	44297187		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44297187T>G	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.488A>C	11.37:g.44297187T>G	ENSP00000332744:p.Glu163Ala						p.E163A	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	591	-			163					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.488A>C	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.950597	0.34377	.	.	ENSG00000052850	ENST00000329255	D	0.90844	-2.74	3.73	3.73	0.42828	.	0.227959	0.36268	N	0.002692	D	0.85877	0.5799	L	0.53249	1.67	0.43724	D	0.996201	B	0.22346	0.068	B	0.18561	0.022	T	0.80151	-0.1502	10	0.15952	T	0.53	.	11.1482	0.48442	0.0:0.0:0.0:1.0	.	163	Q9H161	ALX4_HUMAN	A	163	ENSP00000332744:E163A	ENSP00000332744:E163A	E	-	2	0	ALX4	44253763	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	7.513000	0.81739	1.554000	0.49487	0.374000	0.22700	GAG		0.582	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			17	33	0	0	0	1	0	17	33				
ITIH6	347365	broad.mit.edu	37	X	54784245	54784245	+	Silent	SNP	C	C	T	rs149204090	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:54784245C>T	ENST00000218436.6	-	8	2291	c.2262G>A	c.(2260-2262)acG>acA	p.T754T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	754	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TCCTGGAGTTCGTGGGTAATA	0.502													C|||	1	0.000264901	0.0	0.0	3775	,	,		14141	0.001		0.0	False		,,,				2504	0.0					ENST00000218436.6																			0											c.(2260-2262)acG>acA		inter-alpha-trypsin inhibitor heavy chain family, member 6		C		0,3835		0,0,1632,571	120.0	113.0	115.0		2262	-0.9	0.2	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous	ITIH5L	NM_198510.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		754/1314	54784245	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784245C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2262G>A	X.37:g.54784245C>T							p.T754T	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2291	-			754			Pro-rich.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.2262G>A	CCDS14361.1																																																																																				0.502	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		75	85	0	0	0	1	0	75	85				
ATRX	546	broad.mit.edu	37	X	76889053	76889053	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889053C>T	ENST00000373344.5	-	18	5171		c.e18+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AAATAAGTTACCTCAAGCTTC	0.279			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e18+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						39.0	38.0	38.0					X																	76889053		2202	4292	6494	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889053C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4956+1G>A	X.37:g.76889053C>T						ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site		NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5171	-								D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37		CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159720	0.78226	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8877	0.92385	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATRX	76775709	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.463000	0.80869	2.408000	0.81797	0.594000	0.82650	.		0.279	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Intron	34	57	0	0	0	1	0	34	57				
PYGM	5837	broad.mit.edu	37	11	64521441	64521441	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64521441C>T	ENST00000164139.3	-	10	1547	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.E295E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	383					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						GCTCCAGGGCCTCGGGCAGCA	0.647																																						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.(1147-1149)gaG>gaA		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						47.0	40.0	43.0					11																	64521441		2196	4293	6489	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521441C>T		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.1149G>A	11.37:g.64521441C>T						PYGM_ENST00000377432.3_Silent_p.E295E	p.E383E	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			10	1547	-			383					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1149G>A	CCDS8079.1																																																																																				0.647	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		3	10	0	0	0	1	0	3	10				
SH3TC1	54436	broad.mit.edu	37	4	8229705	8229705	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:8229705C>T	ENST00000245105.3	+	12	2351	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P686S	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	762										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCACAGCCTCCCTGCCCAAAC	0.692																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2056-2058)Cct>Tct		SH3 domain and tetratricopeptide repeats 1							34.0	32.0	33.0					4																	8229705		2201	4299	6500	SO:0001583	missense	54436						binding	g.chr4:8229705C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2284C>T	4.37:g.8229705C>T	ENSP00000245105:p.Pro762Ser					SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762S	p.P686S			Q8TE82	S3TC1_HUMAN			12	2430	+			762					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2056C>T	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106135	0.37145	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.76839	-0.15;-1.05	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	L	0.29908	0.895	0.52501	D	0.999954	D	0.63880	0.993	D	0.64042	0.921	T	0.82770	-0.0293	10	0.51188	T	0.08	-29.211	16.9117	0.86142	0.0:1.0:0.0:0.0	.	762	Q8TE82	S3TC1_HUMAN	S	500;762;686;591	ENSP00000245105:P762S;ENSP00000441045:P686S	ENSP00000245105:P762S	P	+	1	0	SH3TC1	8280605	1.000000	0.71417	0.022000	0.16811	0.014000	0.08584	6.439000	0.73430	1.967000	0.57214	0.462000	0.41574	CCT		0.692	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		14	45	0	0	0	1	0	14	45				
DUSP7	1849	broad.mit.edu	37	3	52089869	52089869	+	Nonsense_Mutation	SNP	G	G	A	rs569327849		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52089869G>A	ENST00000495880.1	-	1	697	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	DUSP7_ENST00000296483.6_Nonsense_Mutation_p.Q121*			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	172	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTCACCTTGGAGGTAGTAG	0.736																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(514-516)Caa>Taa		dual specificity phosphatase 7							8.0	9.0	8.0					3																	52089869		2144	4161	6305	SO:0001587	stop_gained	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52089869G>A	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.514C>T	3.37:g.52089869G>A	ENSP00000417183:p.Gln172*					DUSP7_ENST00000296483.6_Nonsense_Mutation_p.Q121*	p.Q172*			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	697	-			172			Rhodanese.		Q2M3J7|Q8NFJ0	Nonsense_Mutation	SNP	ENST00000495880.1	37	c.514C>T	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	35	5.413689	0.96072	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	.	.	.	4.99	4.03	0.46877	.	0.126328	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	6.8235	0.23870	0.0:0.1311:0.5466:0.3223	.	.	.	.	X	172;121;105	.	ENSP00000296483:Q121X	Q	-	1	0	DUSP7	52064909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.000000	0.29770	2.330000	0.79161	0.655000	0.94253	CAA		0.736	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		8	12	0	0	0	1	0	8	12				
ELN	2006	broad.mit.edu	37	7	73474493	73474493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:73474493G>A	ENST00000252034.7	+	24	1999	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	ELN_ENST00000429192.1_Missense_Mutation_p.V520M|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.V534M|ELN_ENST00000358929.4_Missense_Mutation_p.V569M|ELN_ENST00000458204.1_Missense_Mutation_p.V524M|ELN_ENST00000414324.1_Missense_Mutation_p.V510M|ELN_ENST00000357036.5_Missense_Mutation_p.V539M|ELN_ENST00000380553.4_Missense_Mutation_p.V398M|ELN_ENST00000380575.4_Missense_Mutation_p.V505M|ELN_ENST00000380562.4_Missense_Mutation_p.V540M|ELN_ENST00000380576.5_Missense_Mutation_p.V515M|ELN_ENST00000320399.6_Missense_Mutation_p.V534M|ELN_ENST00000320492.7_Missense_Mutation_p.V453M|ELN_ENST00000380584.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGCTGCCAAGGTGGCTGCCAA	0.642			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1600-1602)Gtg>Atg		elastin	Rofecoxib(DB00533)						81.0	88.0	86.0					7																	73474493		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474493G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1600G>A	7.37:g.73474493G>A	ENSP00000252034:p.Val534Met					ELN_ENST00000358929.4_Missense_Mutation_p.V569M|ELN_ENST00000380576.5_Missense_Mutation_p.V515M|ELN_ENST00000357036.5_Missense_Mutation_p.V539M|ELN_ENST00000320492.7_Missense_Mutation_p.V453M|ELN_ENST00000458204.1_Missense_Mutation_p.V524M|ELN_ENST00000445912.1_Missense_Mutation_p.V534M|ELN_ENST00000380553.4_Missense_Mutation_p.V398M|ELN_ENST00000320399.6_Missense_Mutation_p.V534M|ELN_ENST00000414324.1_Missense_Mutation_p.V510M|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Missense_Mutation_p.V520M|ELN_ENST00000380562.4_Missense_Mutation_p.V540M|ELN_ENST00000380575.4_Missense_Mutation_p.V505M	p.V534M	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			24	1999	+		Lung NSC(55;0.159)	563			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1600G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262094	0.39995	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.5;1.5;1.47;1.5;1.5;1.47;1.51;1.5;1.5;1.5;1.5;1.5;1.5	4.47	2.53	0.30540	.	.	.	.	.	T	0.28366	0.0701	.	.	.	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P	0.43094	0.799;0.681;0.799;0.799;0.681;0.799;0.799;0.799;0.799;0.799;0.799;0.799	B;B;B;B;B;B;B;B;B;B;B;B	0.41764	0.281;0.281;0.281;0.281;0.281;0.281;0.281;0.281;0.221;0.366;0.281;0.281	T	0.06991	-1.0796	8	0.48119	T	0.1	-0.3586	10.7607	0.46264	0.0:0.3751:0.6249:0.0	.	534;453;510;524;540;505;520;539;515;398;445;534	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	M	534;534;569;453;510;540;505;524;539;520;473;398;515;534	ENSP00000389857:V534M;ENSP00000252034:V534M;ENSP00000351807:V569M;ENSP00000315607:V453M;ENSP00000392575:V510M;ENSP00000369936:V540M;ENSP00000369949:V505M;ENSP00000403162:V524M;ENSP00000349540:V539M;ENSP00000391129:V520M;ENSP00000369926:V398M;ENSP00000369950:V515M;ENSP00000313565:V534M	ENSP00000252034:V534M	V	+	1	0	ELN	73112429	0.001000	0.12720	0.002000	0.10522	0.284000	0.27059	0.493000	0.22451	0.570000	0.29347	0.644000	0.83932	GTG		0.642	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		64	77	0	0	0	1	0	64	77				
BCORL1	63035	broad.mit.edu	37	X	129171506	129171506	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:129171506G>A	ENST00000218147.7	+	9	4667	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	BCORL1_ENST00000303743.5_Silent_p.T1564T|BCORL1_ENST00000359304.2_Silent_p.T1360T|BCORL1_ENST00000540052.1_Silent_p.T1490T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1490					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGACGGCACGAGGCAAGAGG	0.647																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4468-4470)acG>acA		BCL6 corepressor-like 1							78.0	58.0	65.0					X																	129171506		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129171506G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4470G>A	X.37:g.129171506G>A						BCORL1_ENST00000303743.5_Silent_p.T1564T|BCORL1_ENST00000218147.7_Silent_p.T1490T|BCORL1_ENST00000359304.2_Silent_p.T1360T	p.T1490T	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			8	4514	+			1490					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4470G>A	CCDS14616.1																																																																																				0.647	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		33	63	0	0	0	1	0	33	63				
QSER1	79832	broad.mit.edu	37	11	32956826	32956826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:32956826C>T	ENST00000399302.2	+	4	3970	c.3635C>T	c.(3634-3636)cCa>cTa	p.P1212L	QSER1_ENST00000527788.1_Missense_Mutation_p.P973L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1212										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTAACAGTCCATCAGATAAA	0.408																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3634-3636)cCa>cTa		glutamine and serine rich 1							121.0	120.0	120.0					11																	32956826		1863	4096	5959	SO:0001583	missense	79832							g.chr11:32956826C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3635C>T	11.37:g.32956826C>T	ENSP00000382241:p.Pro1212Leu					QSER1_ENST00000527788.1_Missense_Mutation_p.P973L	p.P1212L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3970	+	Breast(20;0.158)		1212					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3635C>T	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.486|3.486	-0.104957|-0.104957	0.06967|0.06967	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000524678|ENST00000399302;ENST00000078652;ENST00000527788	.|T;T	.|0.27557	.|2.0;1.66	5.31|5.31	2.38|2.38	0.29361|0.29361	.|.	.|0.385759	.|0.24654	.|N	.|0.036697	T|T	0.24160|0.24160	0.0585|0.0585	L|L	0.39633|0.39633	1.23|1.23	0.39793|0.39793	D|D	0.97246|0.97246	.|B;B;B	.|0.23249	.|0.082;0.016;0.007	.|B;B;B	.|0.22386	.|0.039;0.033;0.005	T|T	0.05801|0.05801	-1.0863|-1.0863	5|10	.|0.48119	.|T	.|0.1	.|.	9.8346|9.8346	0.40963|0.40963	0.0:0.7727:0.0:0.2273|0.0:0.7727:0.0:0.2273	.|.	.|973;973;1212	.|C9JJ88;Q2KHR3-2;Q2KHR3	.|.;.;QSER1_HUMAN	Y|L	233|1212;973;973	.|ENSP00000382241:P1212L;ENSP00000432766:P973L	.|ENSP00000078652:P973L	H|P	+|+	1|2	0|0	QSER1|QSER1	32913402|32913402	0.762000|0.762000	0.28451|0.28451	0.422000|0.422000	0.26621|0.26621	0.011000|0.011000	0.07611|0.07611	1.764000|1.764000	0.38471|0.38471	0.221000|0.221000	0.20879|0.20879	0.467000|0.467000	0.42956|0.42956	CAT|CCA		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		66	93	0	0	0	1	0	66	93				
FAT3	120114	broad.mit.edu	37	11	92085509	92085509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92085509G>A	ENST00000298047.6	+	1	248	c.231G>A	c.(229-231)tgG>tgA	p.W77*	FAT3_ENST00000525166.1_5'Flank|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTATCCTGGGATATCAAAT	0.413										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(229-231)tgG>tgA		FAT atypical cadherin 3							87.0	87.0	87.0					11																	92085509		1909	4125	6034	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085509G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.231G>A	11.37:g.92085509G>A	ENSP00000298047:p.Trp77*	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77*	p.W77*			Q8TDW7	FAT3_HUMAN			1	248	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	77			Cadherin 1.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.231G>A		.	.	.	.	.	.	.	.	.	.	G	37	6.520343	0.97633	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.5487	0.91056	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000298047:W77X	W	+	3	0	FAT3	91725157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.897000	0.87356	2.696000	0.92011	0.655000	0.94253	TGG		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	32	0	0	0	1	0	15	32				
ZBED9	114821	broad.mit.edu	37	6	28541289	28541289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28541289C>T	ENST00000452236.2	-	4	2994	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcaaagaattcttttggttgt	0.323																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2377-2379)Gaa>Aaa		SCAN domain containing 3							78.0	76.0	77.0					6																	28541289		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541289C>T																												ENST00000452236.2:c.2377G>A	6.37:g.28541289C>T	ENSP00000395259:p.Glu793Lys						p.E793K	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	2994	-			793						Missense_Mutation	SNP	ENST00000452236.2	37	c.2377G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614961	0.46631	.	.	ENSG00000232040	ENST00000452236	T	0.01647	4.71	2.27	2.27	0.28462	.	0.000000	0.56097	U	0.000024	T	0.02012	0.0063	L	0.42744	1.35	0.27123	N	0.96209	D	0.57571	0.98	D	0.68192	0.956	T	0.50233	-0.8852	10	0.41790	T	0.15	.	8.144	0.31100	0.0:1.0:0.0:0.0	.	793	Q6R2W3	SCND3_HUMAN	K	793	ENSP00000395259:E793K	ENSP00000395259:E793K	E	-	1	0	SCAND3	28649268	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.852000	0.39348	1.581000	0.49865	0.655000	0.94253	GAA		0.323	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			25	16	0	0	0	1	0	25	16				
FLYWCH1	84256	broad.mit.edu	37	16	2979734	2979734	+	Silent	SNP	C	C	T	rs368822385		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2979734C>T	ENST00000253928.9	+	3	453	c.48C>T	c.(46-48)gcC>gcT	p.A16A	FLYWCH1_ENST00000399667.2_Silent_p.A16A|FLYWCH1_ENST00000416288.2_Silent_p.A16A			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GTGTGAAGGCCGGCCAGGAGC	0.697																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(46-48)gcC>gcT		FLYWCH-type zinc finger 1							35.0	41.0	39.0					16																	2979734		2198	4299	6497	SO:0001819	synonymous_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2979734C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.48C>T	16.37:g.2979734C>T						FLYWCH1_ENST00000416288.2_Silent_p.A16A|FLYWCH1_ENST00000253928.9_Silent_p.A16A	p.A16A			Q4VC44	FWCH1_HUMAN			3	411	+			16					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Silent	SNP	ENST00000253928.9	37	c.48C>T																																																																																					0.697	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		17	21	0	0	0	1	0	17	21				
TLR7	51284	broad.mit.edu	37	X	12906090	12906090	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906090G>A	ENST00000380659.3	+	3	2602	c.2463G>A	c.(2461-2463)aaG>aaA	p.K821K		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	821					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GAGCACACAAGGGCCAAAGTG	0.488																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2461-2463)aaG>aaA		toll-like receptor 7	Imiquimod(DB00724)						167.0	135.0	146.0					X																	12906090		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906090G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2463G>A	X.37:g.12906090G>A							p.K821K	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2602	+			821					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2463G>A	CCDS14151.1																																																																																				0.488	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		58	107	0	0	0	1	0	58	107				
GRAMD1A	57655	broad.mit.edu	37	19	35512502	35512502	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512502C>T	ENST00000317991.5	+	14	1764	c.1572C>T	c.(1570-1572)caC>caT	p.H524H	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Silent_p.H611H|GRAMD1A_ENST00000504615.2_Silent_p.H290H|GRAMD1A_ENST00000411896.2_Silent_p.H517H	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	524						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTATTTCCACCATCTGGGTA	0.587																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1831-1833)caC>caT		GRAM domain containing 1A							56.0	60.0	59.0					19																	35512502		1948	4116	6064	SO:0001819	synonymous_variant	57655					integral to membrane		g.chr19:35512502C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1572C>T	19.37:g.35512502C>T						CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.H524H|GRAMD1A_ENST00000411896.2_Silent_p.H517H|GRAMD1A_ENST00000504615.2_Silent_p.H290H	p.H611H			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		15	1904	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		524					A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	c.1833C>T	CCDS42546.1																																																																																				0.587	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		23	53	0	0	0	1	0	23	53				
FAT4	79633	broad.mit.edu	37	4	126411592	126411592	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126411592G>A	ENST00000394329.3	+	17	13628	c.13615G>A	c.(13615-13617)Gag>Aag	p.E4539K	FAT4_ENST00000335110.5_Missense_Mutation_p.E2780K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4539					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATCCCAAAGAGGAGAAGAA	0.527																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13615-13617)Gag>Aag		FAT atypical cadherin 4							66.0	70.0	69.0					4																	126411592		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411592G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13615G>A	4.37:g.126411592G>A	ENSP00000377862:p.Glu4539Lys					FAT4_ENST00000335110.5_Missense_Mutation_p.E2780K	p.E4539K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13628	+			4539					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13615G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052640	0.36181	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75821	-0.86;-0.97	4.79	0.681	0.17986	.	0.265857	0.19242	U	0.119128	T	0.49932	0.1586	N	0.14661	0.345	0.33538	D	0.594478	B;B;B	0.22003	0.034;0.063;0.013	B;B;B	0.16722	0.015;0.016;0.015	T	0.47923	-0.9079	10	0.08179	T	0.78	.	9.1842	0.37160	0.0812:0.4191:0.4997:0.0	.	2780;4539;4538	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	K	4539;2780	ENSP00000377862:E4539K;ENSP00000335169:E2780K	ENSP00000335169:E2780K	E	+	1	0	FAT4	126631042	1.000000	0.71417	0.134000	0.22075	0.936000	0.57629	4.364000	0.59479	0.076000	0.16826	0.561000	0.74099	GAG		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	34	0	0	0	1	0	12	34				
EVPL	2125	broad.mit.edu	37	17	74003456	74003456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74003456G>A	ENST00000301607.3	-	22	6083	c.5830C>T	c.(5830-5832)Ctc>Ttc	p.L1944F	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1944	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCGATGAGCCCCCCGGTC	0.672																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5830-5832)Ctc>Ttc		envoplakin							41.0	39.0	40.0					17																	74003456		2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003456G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5830C>T	17.37:g.74003456G>A	ENSP00000301607:p.Leu1944Phe					EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F	p.L1944F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6083	-			1944			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5830C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500384	0.64298	.	.	ENSG00000167880	ENST00000301607	T	0.77098	-1.07	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	D	0.89143	0.6631	M	0.80616	2.505	0.54753	D	0.999983	D;D	0.89917	0.997;1.0	D;D	0.91635	0.96;0.999	D	0.90038	0.4140	10	0.72032	D	0.01	-26.712	19.3612	0.94438	0.0:0.0:1.0:0.0	.	1966;1944	B7ZLH8;Q92817	.;EVPL_HUMAN	F	1944	ENSP00000301607:L1944F	ENSP00000301607:L1944F	L	-	1	0	EVPL	71515051	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.730000	0.68546	2.564000	0.86499	0.561000	0.74099	CTC		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		28	35	0	0	0	1	0	28	35				
ARHGAP21	57584	broad.mit.edu	37	10	24874385	24874385	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:24874385C>T	ENST00000396432.2	-	26	5319	c.4833G>A	c.(4831-4833)gtG>gtA	p.V1611V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1610	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTCTCTGCCACGGATTGCA	0.567																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4831-4833)gtG>gtA		Rho GTPase activating protein 21							74.0	74.0	74.0					10																	24874385		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874385C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4833G>A	10.37:g.24874385C>T							p.V1611V	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	5319	-			1610			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.4833G>A	CCDS7144.2																																																																																				0.567	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		39	49	0	0	0	1	0	39	49				
PEX10	5192	broad.mit.edu	37	1	2337938	2337938	+	Silent	SNP	C	C	A	rs372779905		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2337938C>A	ENST00000447513.2	-	5	965	c.897G>T	c.(895-897)gcG>gcT	p.A299A	PEX10_ENST00000515760.1_5'Flank|PEX10_ENST00000507596.1_Silent_p.A299A|PEX10_ENST00000288774.3_Silent_p.A319A	NM_002617.3	NP_002608.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	299					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	integral component of peroxisomal membrane (GO:0005779)|intracellular (GO:0005622)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCTGCACCACGCGGTGATGC	0.667																																					GBM(12;9 508 1649 13619)	ENST00000288774.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7						c.(955-957)gcG>gcT		peroxisomal biogenesis factor 10							39.0	40.0	40.0					1																	2337938		2203	4298	6501	SO:0001819	synonymous_variant	5192				protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding	g.chr1:2337938C>A	AF060502	CCDS41.1, CCDS44045.1	1p36.32	2013-01-09	2008-08-26		ENSG00000157911	ENSG00000157911		"""RING-type (C3HC4) zinc fingers"""	8851	protein-coding gene	gene with protein product		602859	"""peroxisome biogenesis factor 10"""			9683594	Standard	NM_002617		Approved	RNF69	uc001ajg.3	O60683	OTTHUMG00000001637	ENST00000447513.2:c.897G>T	1.37:g.2337938C>A						PEX10_ENST00000447513.2_Silent_p.A299A|PEX10_ENST00000507596.1_Silent_p.A299A	p.A319A	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)	5	984	-	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	299					B3KWD8|Q5T095|Q9BW90	Silent	SNP	ENST00000447513.2	37	c.957G>T	CCDS44045.1																																																																																				0.667	PEX10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367454.1	NM_153818		16	35	1	0	3.51602e-12	1	3.56078e-12	16	35				
RSF1	51773	broad.mit.edu	37	11	77412960	77412960	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:77412960C>T	ENST00000308488.6	-	6	1616	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	RSF1_ENST00000480887.1_Silent_p.G186G|RSF1_ENST00000360355.2_Silent_p.G407G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	438					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CCAGCTGTTTCCCTTCATGAC	0.363																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1312-1314)ggG>ggA		remodeling and spacing factor 1							89.0	89.0	89.0					11																	77412960		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412960C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1314G>A	11.37:g.77412960C>T						RSF1_ENST00000480887.1_Silent_p.G186G|RSF1_ENST00000360355.2_Silent_p.G407G	p.G438G			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1616	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		438					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.1314G>A	CCDS8253.1																																																																																				0.363	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		23	48	0	0	0	1	0	23	48				
SND1	27044	broad.mit.edu	37	7	127569372	127569372	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:127569372C>T	ENST00000354725.3	+	15	1853	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	553	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTATCACCTTCTTGCTTGCAG	0.473																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1657-1659)ttC>ttT		staphylococcal nuclease and tudor domain containing 1							272.0	248.0	256.0					7																	127569372		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127569372C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1659C>T	7.37:g.127569372C>T							p.F553F	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			15	1853	+			553			TNase-like 4.		Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.1659C>T	CCDS34747.1																																																																																				0.473	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		67	144	0	0	0	1	0	67	144				
RP1L1	94137	broad.mit.edu	37	8	10469725	10469725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469725G>A	ENST00000382483.3	-	4	2106	c.1883C>T	c.(1882-1884)cCt>cTt	p.P628L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	628					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCAGGTGGAAGGGGTGGAAGA	0.667																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1882-1884)cCt>cTt		retinitis pigmentosa 1-like 1							38.0	44.0	42.0					8																	10469725		2034	4182	6216	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469725G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1883C>T	8.37:g.10469725G>A	ENSP00000371923:p.Pro628Leu						p.P628L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2106	-			628					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1883C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	8.671	0.902790	0.17760	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.45	-2.81	0.05805	.	2.388480	0.02400	N	0.080500	T	0.04318	0.0119	L	0.27053	0.805	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.45731	-0.9241	10	0.72032	D	0.01	1.4514	5.1755	0.15133	0.6212:0.0:0.2156:0.1632	.	628	A6NKC6	.	L	628	ENSP00000371923:P628L	ENSP00000371923:P628L	P	-	2	0	RP1L1	10507135	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.024000	0.13555	-0.241000	0.09681	0.455000	0.32223	CCT		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			32	39	0	0	0	1	0	32	39				
MYBL2	4605	broad.mit.edu	37	20	42310477	42310477	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:42310477C>T	ENST00000217026.4	+	3	295	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MYBL2_ENST00000396863.4_Intron	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	56	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGAAGTTCCTGGCCAGCC	0.602																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(166-168)ttC>ttT		v-myb avian myeloblastosis viral oncogene homolog-like 2							60.0	48.0	52.0					20																	42310477		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42310477C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.168C>T	20.37:g.42310477C>T						MYBL2_ENST00000396863.4_Intron	p.F56F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	295	+		Myeloproliferative disorder(115;0.00452)	56			HTH myb-type 1.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.168C>T	CCDS13322.1																																																																																				0.602	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		20	41	0	0	0	1	0	20	41				
CACNA2D4	93589	broad.mit.edu	37	12	2027517	2027517	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:2027517G>A	ENST00000382722.5	-	1	485	c.123C>T	c.(121-123)ccC>ccT	p.P41P	CACNA2D4_ENST00000585732.1_Silent_p.P41P|CACNA2D4_ENST00000586184.1_Silent_p.P41P|CACNA2D4_ENST00000587995.1_Silent_p.P41P|RP5-1096D14.3_ENST00000544163.1_RNA	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	41					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCAGGCCACGGGCATTGGCT	0.652																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(121-123)ccC>ccT		calcium channel, voltage-dependent, alpha 2/delta subunit 4							18.0	23.0	21.0					12																	2027517		1912	4130	6042	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2027517G>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.123C>T	12.37:g.2027517G>A						CACNA2D4_ENST00000585732.1_Silent_p.P41P|CACNA2D4_ENST00000587995.1_Silent_p.P41P|CACNA2D4_ENST00000586184.1_Silent_p.P41P|RP5-1096D14.3_ENST00000544163.1_RNA	p.P41P	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	1	485	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	41					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.123C>T	CCDS44785.1																																																																																				0.652	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			14	4	0	0	0	1	0	14	4				
GPI	2821	broad.mit.edu	37	19	34887238	34887238	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:34887238C>T	ENST00000356487.5	+	13	1336	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	GPI_ENST00000415930.3_Silent_p.T376T|GPI_ENST00000586425.1_Silent_p.T365T	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	365					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AATACATCACCAAATCTGGAA	0.493																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1126-1128)acC>acT		glucose-6-phosphate isomerase							63.0	67.0	66.0					19																	34887238		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887238C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1095C>T	19.37:g.34887238C>T						GPI_ENST00000586425.1_Silent_p.T365T|GPI_ENST00000356487.5_Silent_p.T365T	p.T376T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			13	1298	+	Esophageal squamous(110;0.162)		365					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.1128C>T	CCDS12437.1																																																																																				0.493	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			30	56	0	0	0	1	0	30	56				
SMG1	23049	broad.mit.edu	37	16	18848596	18848596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18848596G>A	ENST00000446231.2	-	46	7995	c.7583C>T	c.(7582-7584)cCt>cTt	p.P2528L	SMG1_ENST00000389467.3_Missense_Mutation_p.P2528L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2528					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTATGAGAAGGATGATCCAC	0.373																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7582-7584)cCt>cTt		SMG1 phosphatidylinositol 3-kinase-related kinase							180.0	173.0	175.0					16																	18848596		1855	4099	5954	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18848596G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7583C>T	16.37:g.18848596G>A	ENSP00000402515:p.Pro2528Leu					SMG1_ENST00000389467.3_Missense_Mutation_p.P2528L	p.P2528L			Q96Q15	SMG1_HUMAN			46	7995	-			2528					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7583C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.931007	0.73327	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01165	5.24;5.24	5.99	5.99	0.97316	Armadillo-type fold (1);	0.084933	0.51477	N	0.000083	T	0.01454	0.0047	N	0.17082	0.46	0.58432	D	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.67864	-0.5560	10	0.72032	D	0.01	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	2528	Q96Q15	SMG1_HUMAN	L	2528	ENSP00000402515:P2528L;ENSP00000374118:P2528L	ENSP00000374118:P2528L	P	-	2	0	SMG1	18756097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.325000	0.72901	2.840000	0.97914	0.655000	0.94253	CCT		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		41	105	0	0	0	1	0	41	105				
NEDD4L	23327	broad.mit.edu	37	18	56001072	56001072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:56001072T>G	ENST00000400345.3	+	12	1296	c.1013T>G	c.(1012-1014)tTg>tGg	p.L338W	NEDD4L_ENST00000456986.1_Missense_Mutation_p.L217W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L338W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L330W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L217W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L338W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000456173.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L330W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L338W	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	338					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCCTCAAGGTTGAGGTCATGC	0.433																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(649-651)tTg>tGg		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							98.0	96.0	96.0					18																	56001072		1950	4147	6097	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56001072T>G	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1013T>G	18.37:g.56001072T>G	ENSP00000383199:p.Leu338Trp					NEDD4L_ENST00000456173.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L338W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L217W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L330W|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L338W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L338W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L330W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L338W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000589054.1_Intron	p.L217W	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			12	1250	+			338			WW 1.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.650T>G	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133391	0.77662	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.36878	1.36;1.36;1.28;1.23;1.85;1.86;1.77;1.84;1.84;1.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	L	0.43152	1.355	0.54753	D	0.999986	D;D;D;D;D;D;D	0.76494	0.999;0.996;0.996;0.997;0.996;0.993;0.996	D;D;P;P;D;P;D	0.79784	0.993;0.928;0.895;0.887;0.947;0.787;0.928	T	0.46303	-0.9201	10	0.37606	T	0.19	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	338;330;330;217;338;338;338	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	W	338;338;338;338;217;217;330;217;217;217	ENSP00000383199:L338W;ENSP00000372301:L338W;ENSP00000348847:L338W;ENSP00000256830:L338W;ENSP00000256832:L217W;ENSP00000411947:L217W;ENSP00000350569:L330W;ENSP00000393395:L217W;ENSP00000405440:L217W;ENSP00000389406:L217W	ENSP00000256830:L338W	L	+	2	0	NEDD4L	54152052	0.999000	0.42202	0.411000	0.26484	0.937000	0.57800	5.845000	0.69437	2.191000	0.70037	0.533000	0.62120	TTG		0.433	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			8	29	0	0	0	1	0	8	29				
TLE3	7090	broad.mit.edu	37	15	70358436	70358436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:70358436C>T	ENST00000558939.1	-	7	1871	c.494G>A	c.(493-495)gGg>gAg	p.G165E	TLE3_ENST00000557907.1_Missense_Mutation_p.G165E|TLE3_ENST00000317509.8_Missense_Mutation_p.G165E|TLE3_ENST00000442299.2_Missense_Mutation_p.G165E|TLE3_ENST00000558201.1_Missense_Mutation_p.G171E|TLE3_ENST00000560939.1_Missense_Mutation_p.G170E|TLE3_ENST00000440567.3_Missense_Mutation_p.G158E|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000451782.2_Missense_Mutation_p.G165E|TLE3_ENST00000560589.1_Missense_Mutation_p.G109E|TLE3_ENST00000558379.1_Missense_Mutation_p.G165E|TLE3_ENST00000539550.1_Missense_Mutation_p.G109E|TLE3_ENST00000559929.1_Missense_Mutation_p.G175E|TLE3_ENST00000559048.1_Missense_Mutation_p.G170E|TLE3_ENST00000557997.1_Missense_Mutation_p.G165E	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	165	Gly/Pro-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCAGCAGCCCGGAGCTGCT	0.672																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(493-495)gGg>gAg		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							27.0	29.0	29.0					15																	70358436		1905	4128	6033	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70358436C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.494G>A	15.37:g.70358436C>T	ENSP00000452871:p.Gly165Glu					TLE3_ENST00000559048.1_Missense_Mutation_p.G170E|TLE3_ENST00000440567.3_Missense_Mutation_p.G158E|TLE3_ENST00000557907.1_Missense_Mutation_p.G165E|TLE3_ENST00000560939.1_Missense_Mutation_p.G170E|TLE3_ENST00000559929.1_Missense_Mutation_p.G175E|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.G165E|TLE3_ENST00000539550.1_Missense_Mutation_p.G109E|TLE3_ENST00000451782.2_Missense_Mutation_p.G165E|TLE3_ENST00000560589.1_Missense_Mutation_p.G109E|TLE3_ENST00000442299.2_Missense_Mutation_p.G165E|TLE3_ENST00000558201.1_Missense_Mutation_p.G171E|TLE3_ENST00000557997.1_Missense_Mutation_p.G165E|TLE3_ENST00000558379.1_Missense_Mutation_p.G165E	p.G165E			Q04726	TLE3_HUMAN			7	1871	-			165			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.494G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238540	0.95240	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.55930	0.54;0.59;0.73;0.57;0.49	5.56	5.56	0.83823	.	0.115954	0.64402	D	0.000016	T	0.72985	0.3529	M	0.80847	2.515	0.80722	D	1	D;P;D;D;P;D;D;D	0.71674	0.99;0.639;0.973;0.983;0.735;0.983;0.985;0.998	P;P;P;P;B;P;P;D	0.67900	0.899;0.707;0.847;0.796;0.444;0.796;0.786;0.954	T	0.69665	-0.5084	10	0.25106	T	0.35	-18.6851	19.131	0.93406	0.0:1.0:0.0:0.0	.	158;165;165;165;165;165;170;109	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	E	165;165;165;158;109	ENSP00000390007:G165E;ENSP00000394717:G165E;ENSP00000319233:G165E;ENSP00000415057:G158E;ENSP00000442594:G109E	ENSP00000319233:G165E	G	-	2	0	TLE3	68145490	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.864000	0.69575	2.609000	0.88269	0.655000	0.94253	GGG		0.672	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		11	26	0	0	0	1	0	11	26				
ADAM9	8754	broad.mit.edu	37	8	38871527	38871527	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:38871527G>A	ENST00000487273.2	+	4	376	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ADAM9_ENST00000481513.1_Missense_Mutation_p.E100K|ADAM9_ENST00000466936.1_Missense_Mutation_p.E100K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	100				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTACAACAAGGAAGGGACTTT	0.303																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(298-300)Gaa>Aaa		ADAM metallopeptidase domain 9							133.0	138.0	136.0					8																	38871527		2203	4300	6503	SO:0001583	missense	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38871527G>A	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.298G>A	8.37:g.38871527G>A	ENSP00000419446:p.Glu100Lys					ADAM9_ENST00000481513.1_Missense_Mutation_p.E100K|ADAM9_ENST00000466936.1_Missense_Mutation_p.E100K	p.E100K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		4	376	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	100	Missing (in Ref. 2; no nucleotide entry).				B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	c.298G>A	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611414	0.46631	.	.	ENSG00000168615	ENST00000466936;ENST00000481513;ENST00000487273	T;T;T	0.05925	3.37;3.37;3.37	5.58	5.58	0.84498	Peptidase M12B, propeptide (1);	0.150475	0.64402	D	0.000009	T	0.17450	0.0419	L	0.53249	1.67	0.40767	D	0.983058	P;D;D	0.60160	0.814;0.987;0.97	P;P;P	0.57283	0.526;0.817;0.815	T	0.00107	-1.2052	10	0.49607	T	0.09	.	16.7262	0.85422	0.0:0.0:1.0:0.0	.	100;100;100	Q13443;C9J6H5;C9JPM3	ADAM9_HUMAN;.;.	K	100	ENSP00000420257:E100K;ENSP00000417066:E100K;ENSP00000419446:E100K	ENSP00000369249:E100K	E	+	1	0	ADAM9	38990684	1.000000	0.71417	0.957000	0.39632	0.023000	0.10783	3.338000	0.52128	2.629000	0.89072	0.655000	0.94253	GAA		0.303	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			42	55	0	0	0	1	0	42	55				
TMEM97	27346	broad.mit.edu	37	17	26653748	26653748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26653748C>T	ENST00000226230.6	+	3	605	c.460C>T	c.(460-462)Cca>Tca	p.P154S	TMEM97_ENST00000336687.6_Missense_Mutation_p.P47S|TMEM97_ENST00000583381.1_Missense_Mutation_p.P47S	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	154					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTTACTCATCCCATTCATACT	0.428																																						ENST00000226230.6																			0				endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(460-462)Cca>Tca		transmembrane protein 97							117.0	89.0	98.0					17																	26653748		2203	4300	6503	SO:0001583	missense	27346				cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	g.chr17:26653748C>T	BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.460C>T	17.37:g.26653748C>T	ENSP00000226230:p.Pro154Ser					TMEM97_ENST00000583381.1_Missense_Mutation_p.P47S|TMEM97_ENST00000336687.6_Missense_Mutation_p.P47S	p.P154S	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	605	+	all_lung(13;0.000238)|Lung NSC(42;0.000789)		154					B4DS02|Q07823	Missense_Mutation	SNP	ENST00000226230.6	37	c.460C>T	CCDS11226.2	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921702	0.33908	.	.	ENSG00000109084	ENST00000226230;ENST00000336687	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86448	0.1771	9	0.54805	T	0.06	-11.912	18.4457	0.90682	0.0:1.0:0.0:0.0	.	154	Q5BJF2	TMM97_HUMAN	S	154;47	.	ENSP00000226230:P154S	P	+	1	0	TMEM97	23677875	1.000000	0.71417	0.997000	0.53966	0.142000	0.21351	7.250000	0.78287	2.709000	0.92574	0.655000	0.94253	CCA		0.428	TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573		18	25	0	0	0	1	0	18	25				
ESYT3	83850	broad.mit.edu	37	3	138178864	138178864	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:138178864C>T	ENST00000389567.4	+	6	912	c.726C>T	c.(724-726)ttC>ttT	p.F242F	ESYT3_ENST00000289135.4_Silent_p.F242F	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	242	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGTGTTCTTCCTTCAGAAGC	0.607																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(724-726)ttC>ttT		extended synaptotagmin-like protein 3							59.0	56.0	57.0					3																	138178864		2203	4300	6503	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138178864C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.726C>T	3.37:g.138178864C>T						ESYT3_ENST00000289135.4_Silent_p.F242F	p.F242F	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			6	912	+			242					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.726C>T	CCDS3101.2																																																																																				0.607	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		15	29	0	0	0	1	0	15	29				
EMID1	129080	broad.mit.edu	37	22	29621205	29621205	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621205G>A	ENST00000404820.3	+	4	530	c.403G>A	c.(403-405)Ggt>Agt	p.G135S	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Splice_Site_p.G135S|EMID1_ENST00000334018.6_Splice_Site_p.G135S			Q96A84	EMID1_HUMAN	EMI domain containing 1	133						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGCCTTCTCAGGTGGGTCCTG	0.622																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.e4+1		EMI domain containing 1							81.0	78.0	79.0					22																	29621205		2203	4300	6503	SO:0001630	splice_region_variant	129080					collagen		g.chr22:29621205G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.403+1G>A	22.37:g.29621205G>A						EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Splice_Site_p.G135_splice|EMID1_ENST00000404820.3_Splice_Site_p.G135_splice	p.G135_splice	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			4	591	+			133					B0QYK6|Q6ICG1|Q86SS7	Splice_Site	SNP	ENST00000404820.3	37	c.403_splice		.	.	.	.	.	.	.	.	.	.	G	25.3	4.619669	0.87460	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	D;T;D;D	0.89415	-2.51;0.91;-2.34;-2.48	4.51	4.51	0.55191	.	0.000000	0.47852	D	0.000220	D	0.93651	0.7972	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.983;1.0	D;P;D;D	0.91635	0.998;0.902;0.938;0.999	D	0.93713	0.7026	10	0.59425	D	0.04	-0.8254	12.9127	0.58189	0.0:0.0:1.0:0.0	.	135;135;133;135	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	S	135	ENSP00000335481:G135S;ENSP00000403816:G135S;ENSP00000385414:G135S;ENSP00000384452:G135S	ENSP00000335481:G135S	G	+	1	0	EMID1	27951205	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.224000	0.58593	2.489000	0.83994	0.655000	0.94253	GGT		0.622	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455	Missense_Mutation	23	39	0	0	0	1	0	23	39				
TTN	7273	broad.mit.edu	37	2	179633554	179633554	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179633554C>T	ENST00000591111.1	-	38	9233	c.9009G>A	c.(9007-9009)aaG>aaA	p.K3003K	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000342992.6_Silent_p.K3003K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.K3003K|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN_ENST00000460472.2_Silent_p.K2957K			Q8WZ42	TITIN_HUMAN	titin	13335	Ig-like 17.				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)			CCACACCATTCTTTAACCATT	0.403																																						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.(9007-9009)aaG>aaA		titin							178.0	158.0	165.0					2																	179633554		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179633554C>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.9009G>A	2.37:g.179633554C>T						TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000591111.1_Silent_p.K3003K|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000460472.2_Silent_p.K2957K|TTN-AS1_ENST00000585451.1_RNA	p.K3003K	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)		38	9233	-			2742			Ig-like 17.		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	Silent	SNP	ENST00000591111.1	37	c.9009G>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	40	0	0	0	1	0	19	40				
FBXW8	26259	broad.mit.edu	37	12	117465256	117465256	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:117465256T>C	ENST00000309909.5	+	10	1681	c.1599T>C	c.(1597-1599)ccT>ccC	p.P533P	FBXW8_ENST00000455858.2_Silent_p.P467P			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	533					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCAACGTGCCTTACCAGACGG	0.587																																						ENST00000455858.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22						c.(1399-1401)ccT>ccC		F-box and WD repeat domain containing 8							101.0	81.0	88.0					12																	117465256		2203	4300	6503	SO:0001819	synonymous_variant	26259						protein binding	g.chr12:117465256T>C	AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1599T>C	12.37:g.117465256T>C						FBXW8_ENST00000309909.5_Silent_p.P533P	p.P467P	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0353)	10	1474	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		533					Q9UK95	Silent	SNP	ENST00000309909.5	37	c.1401T>C	CCDS9182.1																																																																																				0.587	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1	NM_012174		20	46	0	0	0	1	0	20	46				
PPP1R3F	89801	broad.mit.edu	37	X	49127085	49127085	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49127085G>A	ENST00000055335.6	+	1	769	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000466508.1_5'UTR|LL0XNC01-7P3.1_ENST00000602455.1_lincRNA|PPP1R3F_ENST00000495799.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	251	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCTTTGCTGAGGGCGCGGGCG	0.701																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(751-753)gaG>gaA		protein phosphatase 1, regulatory subunit 3F							14.0	13.0	13.0					X																	49127085		2195	4274	6469	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49127085G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.753G>A	X.37:g.49127085G>A						PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR	p.E251E	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			1	769	+	Ovarian(276;0.236)		251			CBM21.		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.753G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	g	9.672	1.146873	0.21288	.	.	ENSG00000049769	ENST00000471261	.	.	.	4.37	3.46	0.39613	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	-12.8282	4.9315	0.13919	0.116:0.0:0.6735:0.2105	.	.	.	.	K	1	.	.	R	+	2	0	PPP1R3F	49014029	0.627000	0.27129	1.000000	0.80357	0.993000	0.82548	1.451000	0.35145	1.741000	0.51731	0.509000	0.49947	AGG		0.701	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		12	20	0	0	0	1	0	12	20				
PTPRM	5797	broad.mit.edu	37	18	7888244	7888244	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7888244T>C	ENST00000332175.8	+	3	1374	c.337T>C	c.(337-339)Tta>Cta	p.L113L	PTPRM_ENST00000400053.4_Silent_p.L51L|PTPRM_ENST00000400060.4_Silent_p.L113L|PTPRM_ENST00000580170.1_Silent_p.L113L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	113	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCCTCCGGGGTTACTCAATGT	0.483																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(337-339)Tta>Cta		protein tyrosine phosphatase, receptor type, M							95.0	94.0	94.0					18																	7888244		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888244T>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.337T>C	18.37:g.7888244T>C						PTPRM_ENST00000400053.4_Silent_p.L51L|PTPRM_ENST00000400060.4_Silent_p.L113L|PTPRM_ENST00000580170.1_Silent_p.L113L	p.L113L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1374	+		Colorectal(10;0.234)	113			MAM.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.337T>C	CCDS11840.1																																																																																				0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			30	56	0	0	0	1	0	30	56				
RET	5979	broad.mit.edu	37	10	43612121	43612121	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43612121G>A	ENST00000355710.3	+	12	2458	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	RET_ENST00000340058.5_Silent_p.T742T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	742	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCAAGGCAACGGCCTTCCATC	0.537		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2224-2226)acG>acA		ret proto-oncogene	Sunitinib(DB01268)						139.0	147.0	144.0					10																	43612121		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43612121G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2226G>A	10.37:g.43612121G>A						RET_ENST00000340058.5_Silent_p.T742T	p.T742T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			12	2458	+		Ovarian(717;0.0423)	742			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2226G>A	CCDS7200.1																																																																																				0.537	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		76	118	0	0	0	1	0	76	118				
BRWD3	254065	broad.mit.edu	37	X	79955510	79955510	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79955510C>T	ENST00000373275.4	-	25	3105	c.2889G>A	c.(2887-2889)tcG>tcA	p.S963S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	963					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						TGTATATTTTCGATTTCCTTA	0.348																																						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.(2887-2889)tcG>tcA		bromodomain and WD repeat domain containing 3							110.0	90.0	96.0					X																	79955510		2201	4298	6499	SO:0001819	synonymous_variant	254065							g.chrX:79955510C>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.2889G>A	X.37:g.79955510C>T						BRWD3_ENST00000473691.1_5'UTR	p.S963S	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			25	3105	-			963					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.2889G>A	CCDS14447.1																																																																																				0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		12	27	0	0	0	1	0	12	27				
FAM78B	149297	broad.mit.edu	37	1	166039875	166039875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:166039875T>C	ENST00000338353.3	-	3	978	c.389A>G	c.(388-390)aAg>aGg	p.K130R	FAM78B_ENST00000354422.3_Missense_Mutation_p.K130R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	130										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCTGGAGATCTTGTTGGTGGG	0.532																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(388-390)aAg>aGg		family with sequence similarity 78, member B							167.0	150.0	156.0					1																	166039875		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039875T>C	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.389A>G	1.37:g.166039875T>C	ENSP00000339681:p.Lys130Arg					FAM78B_ENST00000354422.3_Missense_Mutation_p.K130R	p.K130R			Q5VT40	FA78B_HUMAN			3	978	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		130					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.389A>G	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742195	0.49151	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.33294	0.0858	L	0.49126	1.545	0.47308	D	0.999387	D	0.54964	0.969	P	0.44518	0.452	T	0.21586	-1.0241	8	0.13853	T	0.58	-20.9367	13.9286	0.63978	0.0:0.0:0.0:1.0	.	130	Q5VT40	FA78B_HUMAN	R	130	.	ENSP00000339681:K130R	K	-	2	0	FAM78B	164306499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.856000	0.86956	2.227000	0.72691	0.533000	0.62120	AAG		0.532	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		19	55	0	0	0	1	0	19	55				
MAP3K8	1326	broad.mit.edu	37	10	30748415	30748415	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:30748415C>T	ENST00000263056.1	+	8	1954	c.1258C>T	c.(1258-1260)Cct>Tct	p.P420S	MAP3K8_ENST00000375321.1_Missense_Mutation_p.P420S|MAP3K8_ENST00000542547.1_Missense_Mutation_p.P420S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	420			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GCTGGAACTTCCTGAGAACAT	0.552																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1258-1260)Cct>Tct		mitogen-activated protein kinase kinase kinase 8							69.0	62.0	64.0					10																	30748415		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30748415C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1258C>T	10.37:g.30748415C>T	ENSP00000263056:p.Pro420Ser					MAP3K8_ENST00000542547.1_Missense_Mutation_p.P420S|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P420S	p.P420S	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			8	1954	+		Prostate(175;0.151)	420		Missing (in oncogenic form).			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.1258C>T	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293455	0.40594	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.69806	-0.43;-0.43;-0.43	4.91	3.98	0.46160	Protein kinase-like domain (1);	0.159140	0.56097	D	0.000027	T	0.50650	0.1628	N	0.17082	0.46	0.38956	D	0.958443	B	0.06786	0.001	B	0.04013	0.001	T	0.44390	-0.9331	10	0.32370	T	0.25	.	15.0225	0.71640	0.0:0.8566:0.1434:0.0	.	420	P41279	M3K8_HUMAN	S	420	ENSP00000263056:P420S;ENSP00000443610:P420S;ENSP00000364470:P420S	ENSP00000263056:P420S	P	+	1	0	MAP3K8	30788421	1.000000	0.71417	0.988000	0.46212	0.951000	0.60555	3.617000	0.54181	1.033000	0.39918	0.638000	0.83543	CCT		0.552	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		19	37	0	0	0	1	0	19	37				
MPZ	4359	broad.mit.edu	37	1	161275697	161275697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161275697C>T	ENST00000533357.1	-	6	782	c.716G>A	c.(715-717)gGg>gAg	p.G239E	MPZ_ENST00000360451.6_Missense_Mutation_p.G249E|MPZ_ENST00000336559.4_Missense_Mutation_p.G239S|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Missense_Mutation_p.G43E	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	239					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCCCCAGCCCCTTGGCCTT	0.617																																						ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(715-717)gGg>gAg		myelin protein zero							72.0	70.0	71.0					1																	161275697		2203	4300	6503	SO:0001583	missense	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161275697C>T	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.716G>A	1.37:g.161275697C>T	ENSP00000432943:p.Gly239Glu					MPZ_ENST00000491222.2_Missense_Mutation_p.G43E|MPZ_ENST00000360451.6_Missense_Mutation_p.G249E|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.G239S	p.G239E	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	782	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	239					Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.716G>A	CCDS1229.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.298521|4.298521	0.81025|0.81025	.|.	.|.	ENSG00000158887|ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000491222|ENST00000336559	D;D;D|D	0.88431|0.98192	-2.38;-2.38;-2.38|-4.78	5.17|5.17	5.17|5.17	0.71159|0.71159	Myelin-PO, C-terminal (1);|.	0.283555|0.283555	0.25283|0.25283	N|N	0.031793|0.031793	D|D	0.96694|0.96694	0.8921|0.8921	L|L	0.29908|0.29908	0.895|0.895	.|.	.|.	.|.	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.98111|0.98111	1.0420|1.0420	9|7	0.72032|0.87932	D|D	0.01|0	-16.5793|-16.5793	16.2183|16.2183	0.82241|0.82241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	239|.	P25189|.	MYP0_HUMAN|.	E|S	239;249;43|239	ENSP00000432943:G239E;ENSP00000353634:G249E;ENSP00000431441:G43E|ENSP00000337777:G239S	ENSP00000353634:G249E|ENSP00000337777:G239S	G|G	-|-	2|1	0|0	MPZ|MPZ	159542321|159542321	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.908000|0.908000	0.53690|0.53690	2.631000|2.631000	0.46502|0.46502	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.617	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		25	43	0	0	0	1	0	25	43				
RASGRF2	5924	broad.mit.edu	37	5	80376019	80376019	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:80376019G>A	ENST00000265080.4	+	6	1034	c.967G>A	c.(967-969)Gct>Act	p.A323T	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	323	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTTAATTTTAGGTAAGTGCAT	0.328																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.e6+1		Ras protein-specific guanine nucleotide-releasing factor 2							76.0	85.0	82.0					5																	80376019		2203	4300	6503	SO:0001630	splice_region_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80376019G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.967+1G>A	5.37:g.80376019G>A						RASGRF2_ENST00000502677.1_3'UTR	p.A323_splice	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	6	1034	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	323			DH.		B9EG89|Q9UK56	Splice_Site	SNP	ENST00000265080.4	37	c.967_splice	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169838	0.78452	.	.	ENSG00000113319	ENST00000265080	T	0.69685	-0.42	5.74	5.74	0.90152	Dbl homology (DH) domain (5);	0.103535	0.64402	D	0.000003	T	0.56426	0.1984	N	0.12746	0.255	0.80722	D	1	B;B	0.21071	0.051;0.014	B;B	0.29077	0.098;0.038	T	0.55623	-0.8112	10	0.87932	D	0	.	19.919	0.97077	0.0:0.0:1.0:0.0	.	323;323	D6RAS9;O14827	.;RGRF2_HUMAN	T	323	ENSP00000265080:A323T	ENSP00000265080:A323T	A	+	1	0	RASGRF2	80411775	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.751000	0.98889	2.712000	0.92718	0.561000	0.74099	GCT		0.328	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	Missense_Mutation	30	41	0	0	0	1	0	30	41				
ERICH3	127254	broad.mit.edu	37	1	75038132	75038132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:75038132C>T	ENST00000326665.5	-	14	3480	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1088	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCATCTTCATCCTTGAGTGCA	0.438																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3262-3264)Gat>Aat		chromosome 1 open reading frame 173							156.0	163.0	161.0					1																	75038132		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038132C>T																												ENST00000326665.5:c.3262G>A	1.37:g.75038132C>T	ENSP00000322609:p.Asp1088Asn					C1orf173_ENST00000433746.2_5'UTR	p.D1088N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3480	-			1088			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3262G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	9.043	0.990207	0.18966	.	.	ENSG00000178965	ENST00000326665	T	0.13307	2.6	4.29	2.34	0.29019	.	.	.	.	.	T	0.02888	0.0086	L	0.29908	0.895	0.09310	N	0.999999	B	0.26195	0.144	B	0.30782	0.12	T	0.47849	-0.9085	9	0.19147	T	0.46	0.7701	6.2578	0.20884	0.0:0.6847:0.2043:0.111	.	1088	Q5RHP9	CA173_HUMAN	N	1088	ENSP00000322609:D1088N	ENSP00000322609:D1088N	D	-	1	0	C1orf173	74810720	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.034000	0.13776	0.415000	0.25817	0.561000	0.74099	GAT		0.438	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			50	64	0	0	0	1	0	50	64				
RTN4R	65078	broad.mit.edu	37	22	20229530	20229530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20229530G>A	ENST00000043402.7	-	2	1564	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	376					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					ATGTGCCGTGGGCCAGAGCCG	0.682																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(1126-1128)Cca>Tca		reticulon 4 receptor							33.0	35.0	34.0					22																	20229530		2197	4274	6471	SO:0001583	missense	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20229530G>A	AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1126C>T	22.37:g.20229530G>A	ENSP00000043402:p.Pro376Ser						p.P376S	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	1564	-	Colorectal(54;0.0993)		376					D3DX28	Missense_Mutation	SNP	ENST00000043402.7	37	c.1126C>T	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	G	3.562	-0.089430	0.07053	.	.	ENSG00000040608	ENST00000043402	T	0.60672	0.17	3.84	2.78	0.32641	.	.	.	.	.	T	0.31918	0.0812	N	0.22421	0.69	0.09310	N	1	P	0.39216	0.664	B	0.32928	0.155	T	0.21999	-1.0229	9	0.02654	T	1	.	7.5095	0.27564	0.1246:0.0:0.8754:0.0	.	376	Q9BZR6	RTN4R_HUMAN	S	376	ENSP00000043402:P376S	ENSP00000043402:P376S	P	-	1	0	RTN4R	18609530	0.654000	0.27367	0.052000	0.19188	0.245000	0.25701	2.994000	0.49433	1.990000	0.58119	0.313000	0.20887	CCA		0.682	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			21	41	0	0	0	1	0	21	41				
OR10J3	441911	broad.mit.edu	37	1	159284021	159284021	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:159284021G>A	ENST00000332217.5	-	1	428	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAGTTGGATACAGGCCC	0.517																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(427-429)atC>atT		olfactory receptor, family 10, subfamily J, member 3							74.0	69.0	71.0					1																	159284021		2203	4300	6503	SO:0001819	synonymous_variant	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284021G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.429C>T	1.37:g.159284021G>A							p.I143I	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	428	-	all_hematologic(112;0.0429)		143						Silent	SNP	ENST00000332217.5	37	c.429C>T	CCDS30909.1																																																																																				0.517	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			19	33	0	0	0	1	0	19	33				
PLAT	5327	broad.mit.edu	37	8	42046585	42046585	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:42046585G>A	ENST00000220809.4	-	4	376	c.120C>T	c.(118-120)atC>atT	p.I40I	PLAT_ENST00000429089.2_Silent_p.I40I|PLAT_ENST00000524009.1_Silent_p.I40I|PLAT_ENST00000429710.2_Silent_p.I40I|PLAT_ENST00000270189.6_Silent_p.I40I|PLAT_ENST00000519510.1_Silent_p.I40I|PLAT_ENST00000352041.3_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	40	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	CATCTCTGCAGATCACTATGA	0.473																																						ENST00000220809.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(118-120)atC>atT		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						118.0	115.0	116.0					8																	42046585		2203	4300	6503	SO:0001819	synonymous_variant	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42046585G>A		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.120C>T	8.37:g.42046585G>A						PLAT_ENST00000270189.6_Silent_p.I40I|PLAT_ENST00000519510.1_Silent_p.I40I|PLAT_ENST00000524009.1_Silent_p.I40I|PLAT_ENST00000429710.2_Silent_p.I40I|PLAT_ENST00000429089.2_Silent_p.I40I|PLAT_ENST00000352041.3_Intron	p.I40I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		4	376	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	40			Fibronectin type-I.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	c.120C>T	CCDS6126.1																																																																																				0.473	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		57	63	0	0	0	1	0	57	63				
MGAM	8972	broad.mit.edu	37	7	141803120	141803120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141803120C>T	ENST00000549489.2	+	47	5472	c.5377C>T	c.(5377-5379)Cct>Tct	p.P1793S	MGAM_ENST00000475668.2_Missense_Mutation_p.P2689S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1793	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTACAAATCCTTTGAAACT	0.393																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(8065-8067)Cct>Tct		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						72.0	68.0	70.0					7																	141803120		1922	4130	6052	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141803120C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5377C>T	7.37:g.141803120C>T	ENSP00000447378:p.Pro1793Ser					MGAM_ENST00000549489.2_Missense_Mutation_p.P1793S	p.P2689S			O43451	MGA_HUMAN			70	8119	+	Melanoma(164;0.0272)		1793					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.8065C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	4.288	0.052728	0.08291	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.88277	-2.36	5.4	3.55	0.40652	.	.	.	.	.	T	0.78162	0.4240	N	0.17800	0.525	0.24090	N	0.995913	B	0.21452	0.056	B	0.14023	0.01	T	0.60525	-0.7246	9	0.13108	T	0.6	.	8.8313	0.35085	0.0:0.7654:0.1518:0.0827	.	1793	O43451	MGA_HUMAN	S	1793;2690	ENSP00000447378:P1793S	ENSP00000373973:P1793S	P	+	1	0	MGAM	141449589	0.000000	0.05858	0.901000	0.35422	0.786000	0.44442	-0.206000	0.09398	0.805000	0.34159	0.655000	0.94253	CCT		0.393	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			6	17	0	0	0	1	0	6	17				
PTGIS	5740	broad.mit.edu	37	20	48166642	48166642	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:48166642G>A	ENST00000244043.4	-	2	188	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	53					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	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)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCCTCGTGAGGAAGCTGGCAG	0.572																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(157-159)ttC>ttT		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						110.0	82.0	91.0					20																	48166642		2203	4300	6503	SO:0001819	synonymous_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48166642G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.159C>T	20.37:g.48166642G>A						PTGIS_ENST00000478971.1_5'UTR	p.F53F	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	188	-			53					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Silent	SNP	ENST00000244043.4	37	c.159C>T	CCDS13419.1																																																																																				0.572	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			44	51	0	0	0	1	0	44	51				
OR8B2	26595	broad.mit.edu	37	11	124252318	124252318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252318G>A	ENST00000375013.2	-	1	940	c.922C>T	c.(922-924)Cag>Tag	p.Q308*		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	308						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTCTCCTCTGAATTTTAATC	0.338																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(922-924)Cag>Tag		olfactory receptor, family 8, subfamily B, member 2							50.0	52.0	52.0					11																	124252318		2201	4298	6499	SO:0001587	stop_gained	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252318G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.922C>T	11.37:g.124252318G>A	ENSP00000364152:p.Gln308*						p.Q308*	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	940	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	308					Q8NGH2	Nonsense_Mutation	SNP	ENST00000375013.2	37	c.922C>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	8.497	0.863299	0.17250	.	.	ENSG00000204293	ENST00000375013	.	.	.	2.01	1.08	0.20341	.	1.443170	0.04387	N	0.361754	.	.	.	.	.	.	0.24886	N	0.992195	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3247	0.15901	0.3078:0.0:0.6922:0.0	.	.	.	.	X	308	.	ENSP00000364152:Q308X	Q	-	1	0	OR8B2	123757528	.	.	0.002000	0.10522	0.022000	0.10575	.	.	0.412000	0.25729	0.505000	0.49811	CAG		0.338	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		19	44	0	0	0	1	0	19	44				
TSSK3	81629	broad.mit.edu	37	1	32829353	32829353	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32829353G>A	ENST00000373534.3	+	2	808	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				ACTGCGTGCTGAATGGGGGGC	0.607																																						ENST00000373534.3																			0				NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15						c.(301-303)ctG>ctA		testis-specific serine kinase 3							83.0	84.0	84.0					1																	32829353		2203	4300	6503	SO:0001819	synonymous_variant	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32829353G>A	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.303G>A	1.37:g.32829353G>A						FAM229A_ENST00000415596.1_Intron	p.L101L	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN			2	808	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	101			Protein kinase.		Q5TEE5	Silent	SNP	ENST00000373534.3	37	c.303G>A	CCDS362.1																																																																																				0.607	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1			45	55	0	0	0	1	0	45	55				
ZNF33B	7582	broad.mit.edu	37	10	43078459	43078459	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43078459G>A	ENST00000486187.1	-	0	523							Q06732	ZN33B_HUMAN	zinc finger protein 33B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAAGAAGGGAAGGCCATTG	0.512																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000486187.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29								zinc finger protein 33B																																						7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43078459G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014		10.37:g.43078459G>A										Q06732	ZN33B_HUMAN			0	523	-								Q06731|Q32MA2|Q86XY8|Q8NDW3	RNA	SNP	ENST00000486187.1	37																																																																																						0.512	ZNF33B-006	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000047683.1	NM_006955		4	11	0	0	0	1	0	4	11				
LZTS2	84445	broad.mit.edu	37	10	102763321	102763321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102763321C>T	ENST00000370220.1	+	2	3529	c.466C>T	c.(466-468)Cga>Tga	p.R156*	LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R156*					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCCCAAACCTCGAGGGGCTCC	0.622																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(466-468)Cga>Tga		leucine zipper, putative tumor suppressor 2							82.0	88.0	86.0					10																	102763321		2203	4300	6503	SO:0001587	stop_gained	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763321C>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.466C>T	10.37:g.102763321C>T	ENSP00000359240:p.Arg156*					LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R156*	p.R156*			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3529	+			156			Required for centrosomal localization (By similarity).			Nonsense_Mutation	SNP	ENST00000370220.1	37	c.466C>T	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	56	26.485436	0.99969	.	.	ENSG00000107816	ENST00000426584;ENST00000370223;ENST00000429732;ENST00000315797;ENST00000370220;ENST00000454422	.	.	.	5.27	4.34	0.51931	.	0.136916	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.405	13.6494	0.62301	0.2804:0.7196:0.0:0.0	.	.	.	.	X	156	.	ENSP00000314437:R156X	R	+	1	2	LZTS2	102753311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.878000	0.39608	1.296000	0.44742	0.561000	0.74099	CGA		0.622	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		48	73	0	0	0	1	0	48	73				
FAT3	120114	broad.mit.edu	37	11	92531550	92531550	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531550T>C	ENST00000298047.6	+	9	5388	c.5371T>C	c.(5371-5373)Ttg>Ctg	p.L1791L	FAT3_ENST00000525166.1_Silent_p.L1641L|FAT3_ENST00000409404.2_Silent_p.L1791L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1791	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCAGGAGCTTGGATAACAG	0.438										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5371-5373)Ttg>Ctg		FAT atypical cadherin 3							25.0	26.0	25.0					11																	92531550		1921	4143	6064	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531550T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5371T>C	11.37:g.92531550T>C		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.L1641L|FAT3_ENST00000409404.2_Silent_p.L1791L	p.L1791L			Q8TDW7	FAT3_HUMAN			9	5388	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1791			Cadherin 16.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5371T>C																																																																																					0.438	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		11	11	0	0	0	1	0	11	11				
TYRO3	7301	broad.mit.edu	37	15	41865995	41865995	+	Missense_Mutation	SNP	C	C	T	rs372061850		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41865995C>T	ENST00000263798.3	+	18	2488	c.2264C>T	c.(2263-2265)cCg>cTg	p.P755L	TYRO3_ENST00000559066.1_Missense_Mutation_p.P710L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACAGCCTCCGGAGTGTATG	0.547																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(2263-2265)cCg>cTg		TYRO3 protein tyrosine kinase		C	LEU/PRO	0,4406		0,0,2203	66.0	69.0	68.0		2264	4.6	0.9	15		68	3,8597	3.0+/-9.4	0,3,4297	no	missense	TYRO3	NM_006293.3	98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	755/891	41865995	3,13003	2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865995C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2264C>T	15.37:g.41865995C>T	ENSP00000263798:p.Pro755Leu					TYRO3_ENST00000559066.1_Missense_Mutation_p.P710L	p.P755L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	18	2488	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	755			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2264C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730915	0.48939	0.0	3.49E-4	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82255	-1.59	5.55	4.64	0.57946	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000763	T	0.74779	0.3761	L	0.31664	0.95	0.80722	D	1	P	0.45044	0.849	B	0.41088	0.347	T	0.72839	-0.4171	10	0.27785	T	0.31	-14.6134	14.4929	0.67665	0.0:0.9292:0.0:0.0708	.	755	Q06418	TYRO3_HUMAN	L	687;755	ENSP00000263798:P755L	ENSP00000263798:P755L	P	+	2	0	TYRO3	39653287	0.961000	0.32948	0.935000	0.37517	0.932000	0.56968	6.088000	0.71371	1.344000	0.45657	0.655000	0.94253	CCG		0.547	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			39	74	0	0	0	1	0	39	74				
KCNN4	3783	broad.mit.edu	37	19	44273918	44273918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44273918C>T	ENST00000262888.3	-	5	1278	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	295	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	ACGTGCTTCTCTGCCTTGTTA	0.577																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(883-885)Gag>Aag		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						222.0	196.0	205.0					19																	44273918		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273918C>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.883G>A	19.37:g.44273918C>T	ENSP00000262888:p.Glu295Lys						p.E295K	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			5	1278	-		Prostate(69;0.0352)	295			Calmodulin-binding.		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.883G>A	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106555	0.94292	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.23348	1.91	4.49	4.49	0.54785	Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	M	0.72353	2.195	0.80722	D	1	D;P	0.76494	0.999;0.935	D;P	0.80764	0.994;0.575	T	0.52495	-0.8568	10	0.66056	D	0.02	-29.0958	15.0728	0.72053	0.0:1.0:0.0:0.0	.	189;295	D1MQ10;O15554	.;KCNN4_HUMAN	K	295;163	ENSP00000262888:E295K	ENSP00000262888:E295K	E	-	1	0	KCNN4	48965758	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.755000	0.68750	2.483000	0.83821	0.655000	0.94253	GAG		0.577	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		43	69	0	0	0	1	0	43	69				
SLC1A5	6510	broad.mit.edu	37	19	47290723	47290723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47290723C>T	ENST00000542575.2	-	1	1128	c.500G>A	c.(499-501)gGa>gAa	p.G167E	SLC1A5_ENST00000594991.1_5'Flank|SLC1A5_ENST00000434726.2_5'Flank|SLC1A5_ENST00000412532.2_5'Flank	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	167					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCCCGCGGCTCCCACGGAGGC	0.692																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(499-501)gGa>gAa		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						7.0	8.0	8.0					19																	47290723		2173	4269	6442	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47290723C>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.500G>A	19.37:g.47290723C>T	ENSP00000444408:p.Gly167Glu						p.G167E	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	1	1128	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	167					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.500G>A	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470835	0.43942	.	.	ENSG00000105281	ENST00000542575;ENST00000306894	T	0.58060	0.36	4.36	-4.93	0.03066	.	0.975051	0.08446	N	0.944728	T	0.31482	0.0798	N	0.16567	0.415	0.09310	N	0.999996	B	0.16802	0.019	B	0.19666	0.026	T	0.32107	-0.9919	10	0.54805	T	0.06	-0.631	7.1887	0.25814	0.0:0.2649:0.4676:0.2676	.	167	Q15758	AAAT_HUMAN	E	167;174	ENSP00000444408:G167E	ENSP00000303623:G174E	G	-	2	0	SLC1A5	51982563	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-2.079000	0.01369	-0.639000	0.05502	0.462000	0.41574	GGA		0.692	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			4	6	0	0	0	1	0	4	6				
KNTC1	9735	broad.mit.edu	37	12	123019327	123019327	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123019327C>T	ENST00000333479.7	+	3	423	c.246C>T	c.(244-246)gtC>gtT	p.V82V	KNTC1_ENST00000450485.2_Silent_p.V82V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	82					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCATCTTGTCTTTGGTAAGT	0.363																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(244-246)gtC>gtT		kinetochore associated 1							124.0	111.0	115.0					12																	123019327		1877	4105	5982	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123019327C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.246C>T	12.37:g.123019327C>T						KNTC1_ENST00000450485.2_Silent_p.V82V	p.V82V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	3	423	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		82					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.246C>T	CCDS45002.1																																																																																				0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			12	22	0	0	0	1	0	12	22				
DNAH17	8632	broad.mit.edu	37	17	76455995	76455995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76455995C>T	ENST00000585328.1	-	60	9633	c.9509G>A	c.(9508-9510)gGg>gAg	p.G3170E	DNAH17_ENST00000389840.5_Missense_Mutation_p.G3161E|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3161	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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTTGCCCCCAGGTGCGGT	0.572																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9481-9483)gGg>gAg		dynein, axonemal, heavy chain 17							108.0	82.0	91.0					17																	76455995		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455995C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9509G>A	17.37:g.76455995C>T	ENSP00000465516:p.Gly3170Glu					DNAH17_ENST00000585328.1_Missense_Mutation_p.G3170E|DNAH17_ENST00000586052.1_5'UTR	p.G3161E					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		60	9606	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9482G>A		.	.	.	.	.	.	.	.	.	.	C	8.363	0.833555	0.16820	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.74002	-0.8	4.89	4.89	0.63831	.	0.000000	0.51477	D	0.000098	T	0.65417	0.2689	L	0.49778	1.585	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.51857	-0.8652	10	0.22109	T	0.4	.	9.045	0.36341	0.0:0.8327:0.0:0.1673	.	3170	E7EUM8	.	E	3170;3161	ENSP00000374490:G3161E	ENSP00000300671:G3170E	G	-	2	0	DNAH17	73967590	0.073000	0.21202	0.991000	0.47740	0.463000	0.32649	2.217000	0.42880	2.243000	0.73865	0.511000	0.50034	GGG		0.572	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		24	34	0	0	0	1	0	24	34				
ZNF665	79788	broad.mit.edu	37	19	53668314	53668314	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668314G>A	ENST00000600412.1	-	2	1349	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCCCCGATGACTTGCA	0.423																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1234-1236)Cgg>Tgg		zinc finger protein 665							84.0	88.0	87.0					19																	53668314		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668314G>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1234C>T	19.37:g.53668314G>A	ENSP00000469154:p.Arg412Trp					ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W	p.R412W			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1349	-			412					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1234C>T		.	.	.	.	.	.	.	.	.	.	G	12.80	2.045909	0.36085	.	.	ENSG00000197497	ENST00000396424	T	0.07688	3.17	2.55	-3.81	0.04294	.	.	.	.	.	T	0.09949	0.0244	L	0.43757	1.38	0.09310	N	1	D	0.60160	0.987	P	0.54100	0.742	T	0.10268	-1.0637	9	0.87932	D	0	.	1.222	0.01926	0.2119:0.3197:0.3059:0.1625	.	477	Q9H7R5-2	.	W	477	ENSP00000379702:R477W	ENSP00000379702:R477W	R	-	1	2	ZNF665	58360126	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.055000	0.11807	-0.896000	0.03915	-0.300000	0.09419	CGG		0.423	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		27	49	0	0	0	1	0	27	49				
MXRA7	439921	broad.mit.edu	37	17	74679983	74679983	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679983G>A	ENST00000355797.3	-	3	509				MXRA7_ENST00000589082.1_Missense_Mutation_p.S21F|MXRA7_ENST00000375036.2_Missense_Mutation_p.S176F|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000449428.2_Intron	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TTGCTACAGGGAAGTGAGGTC	0.498																																						ENST00000375036.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(526-528)tCc>tTc		matrix-remodelling associated 7							140.0	123.0	129.0					17																	74679983		2203	4300	6503	SO:0001627	intron_variant	439921					integral to membrane		g.chr17:74679983G>A	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.500+1170C>T	17.37:g.74679983G>A						MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Missense_Mutation_p.S21F|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron	p.S176F	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN			4	584	-			0					Q0P5W3	Missense_Mutation	SNP	ENST00000355797.3	37	c.527C>T	CCDS32745.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539768	0.27563	.	.	ENSG00000182534	ENST00000375036	.	.	.	4.78	3.73	0.42828	.	.	.	.	.	T	0.67401	0.2889	.	.	.	0.23862	N	0.99664	D	0.71674	0.998	D	0.69142	0.962	T	0.60383	-0.7274	7	0.87932	D	0	.	16.2082	0.82142	0.0:0.1453:0.8547:0.0	.	176	P84157-3	.	F	176	.	ENSP00000364176:S176F	S	-	2	0	MXRA7	72191578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.920000	0.63390	2.190000	0.69967	0.462000	0.41574	TCC		0.498	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		18	61	0	0	0	1	0	18	61				
SETD2	29072	broad.mit.edu	37	3	47163677	47163677	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47163677T>A	ENST00000409792.3	-	3	2491	c.2449A>T	c.(2449-2451)Atg>Ttg	p.M817L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	817					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATCTTCATAACTGAAGGC	0.333			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2449-2451)Atg>Ttg		SET domain containing 2							73.0	73.0	73.0					3																	47163677		2203	4299	6502	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163677T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2449A>T	3.37:g.47163677T>A	ENSP00000386759:p.Met817Leu						p.M817L	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2491	-		Acute lymphoblastic leukemia(5;0.0169)	817					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2449A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	5.265	0.234284	0.09969	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87029	-2.2;1.68	5.18	1.6	0.23607	.	1.047520	0.07443	N	0.897718	T	0.74442	0.3717	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58752	-0.7581	10	0.33141	T	0.24	.	4.4406	0.11572	0.1599:0.3936:0.0:0.4465	.	817;817	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	817;817;817;773	ENSP00000386759:M817L;ENSP00000416401:M773L	ENSP00000386759:M817L	M	-	1	0	SETD2	47138681	0.000000	0.05858	0.062000	0.19696	0.883000	0.51084	-1.504000	0.02275	0.126000	0.18424	0.533000	0.62120	ATG		0.333	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		26	35	0	0	0	1	0	26	35				
HCRTR1	3061	broad.mit.edu	37	1	32085227	32085227	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32085227C>T	ENST00000373706.5	+	2	447	c.294C>T	c.(292-294)atC>atT	p.I98I	HCRTR1_ENST00000373705.1_Silent_p.I98I|HCRTR1_ENST00000403528.2_Silent_p.I98I|HCRTR1_ENST00000468521.1_Intron			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	98					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGACTGCTATCTGCCTGCCGG	0.597																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(292-294)atC>atT		hypocretin (orexin) receptor 1							123.0	87.0	99.0					1																	32085227		2203	4300	6503	SO:0001819	synonymous_variant	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32085227C>T	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.294C>T	1.37:g.32085227C>T						HCRTR1_ENST00000373706.5_Silent_p.I98I|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Silent_p.I98I	p.I98I	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	4	679	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	98					A8K3A6|Q9HBV6	Silent	SNP	ENST00000373706.5	37	c.294C>T	CCDS344.1																																																																																				0.597	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		3	18	0	0	0	1	0	3	18				
FAT4	79633	broad.mit.edu	37	4	126372376	126372376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126372376C>T	ENST00000394329.3	+	9	10218	c.10205C>T	c.(10204-10206)cCc>cTc	p.P3402L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGACCCACCCATTTTTACT	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10204-10206)cCc>cTc		FAT atypical cadherin 4							184.0	175.0	178.0					4																	126372376		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372376C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10205C>T	4.37:g.126372376C>T	ENSP00000377862:p.Pro3402Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.P1700L	p.P3402L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10218	+			3402			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10205C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592358	0.66219	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.84800	-1.9;-1.9	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004026	D	0.95500	0.8538	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.97;0.999	D	0.97250	0.9897	10	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1700;3402;3402	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3402;1700	ENSP00000377862:P3402L;ENSP00000335169:P1700L	ENSP00000335169:P1700L	P	+	2	0	FAT4	126591826	1.000000	0.71417	0.894000	0.35097	0.644000	0.38419	7.662000	0.83803	2.392000	0.81423	0.561000	0.74099	CCC		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		36	94	0	0	0	1	0	36	94				
GGN	199720	broad.mit.edu	37	19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876800C>T	ENST00000334928.6	-	3	1234	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1102-1104)Ggg>Agg		gametogenetin							25.0	29.0	27.0					19																	38876800		2197	4296	6493	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876800C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1102G>A	19.37:g.38876800C>T	ENSP00000334940:p.Gly368Arg					AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	p.G368R	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1234	-	all_cancers(60;3.4e-06)		368			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.1102G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706573	0.48412	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	3.33	0.38152	.	0.207411	0.23943	N	0.043023	T	0.47154	0.1430	L	0.29908	0.895	0.31050	N	0.715271	D;D	0.89917	1.0;1.0	D;D	0.70716	0.949;0.97	T	0.47071	-0.9145	9	0.41790	T	0.15	-7.5517	10.004	0.41946	0.0:1.0:0.0:0.0	.	285;368	Q86UU5-2;Q86UU5	.;GGN_HUMAN	R	368	.	ENSP00000334940:G368R	G	-	1	0	GGN	43568640	0.038000	0.19896	0.838000	0.33150	0.826000	0.46750	2.085000	0.41634	1.679000	0.50963	0.462000	0.41574	GGG		0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		3	8	0	0	0	1	0	3	8				
SLAIN1	122060	broad.mit.edu	37	13	78335218	78335218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:78335218G>A	ENST00000466548.1	+	7	1630	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	535										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTGCCTCGAAGCAAAATT	0.463																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1603-1605)cGa>cAa		SLAIN motif family, member 1							67.0	61.0	63.0					13																	78335218		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78335218G>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1604G>A	13.37:g.78335218G>A	ENSP00000419730:p.Arg535Gln					SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q	p.R535Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	7	1630	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	535					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1604G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.592427	0.96590	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000314070;ENST00000358679	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.83982	0.5372	M	0.80422	2.495	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;P;D	0.83275	0.963;0.996;0.902;0.986	D	0.84847	0.0811	9	0.87932	D	0	-15.5872	20.2822	0.98520	0.0:0.0:1.0:0.0	.	271;393;158;535	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	Q	535;535;316;393;316;272;158;272	.	ENSP00000267219:R316Q	R	+	2	0	SLAIN1	77233219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.499000	0.73683	2.806000	0.96561	0.655000	0.94253	CGA		0.463	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		11	28	0	0	0	1	0	11	28				
NRXN2	9379	broad.mit.edu	37	11	64398030	64398030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64398030C>T	ENST00000377551.1	-	18	3812	c.3601G>A	c.(3601-3603)Ggg>Agg	p.G1201R	NRXN2_ENST00000409571.1_Missense_Mutation_p.G1194R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1161R|NRXN2_ENST00000301894.2_Missense_Mutation_p.G155R|NRXN2_ENST00000265459.6_Missense_Mutation_p.G1201R			Q9P2S2	NRX2A_HUMAN	neurexin 2	1201	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGATCACCCCCACGGTGCCC	0.592																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3601-3603)Ggg>Agg		neurexin 2							110.0	78.0	89.0					11																	64398030		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64398030C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3601G>A	11.37:g.64398030C>T	ENSP00000366774:p.Gly1201Arg					NRXN2_ENST00000301894.2_Missense_Mutation_p.G155R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1201R|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1194R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1161R	p.G1201R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			19	4062	-			1201			Laminin G-like 6.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3601G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772894	0.90108	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	4.8	4.8	0.61643	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	0.000000	0.43416	U	0.000564	T	0.82019	0.4946	L	0.38175	1.15	0.80722	D	1	P;P;D;D	0.89917	0.791;0.855;1.0;1.0	P;P;D;D	0.97110	0.584;0.535;1.0;0.997	T	0.78463	-0.2194	10	0.25106	T	0.35	.	16.1594	0.81686	0.0:1.0:0.0:0.0	.	1161;1201;947;155	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	R	155;1201;1161;1201;1161;1194;116	ENSP00000301894:G155R;ENSP00000366774:G1201R;ENSP00000366782:G1161R;ENSP00000265459:G1201R;ENSP00000386416:G1194R;ENSP00000407374:G116R	ENSP00000265459:G1201R	G	-	1	0	NRXN2	64154606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.599000	0.87857	0.561000	0.74099	GGG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		11	30	0	0	0	1	0	11	30				
HEPH	9843	broad.mit.edu	37	X	65409595	65409595	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65409595A>T	ENST00000343002.2	+	5	1542	c.878A>T	c.(877-879)cAc>cTc	p.H293L	HEPH_ENST00000419594.1_Missense_Mutation_p.H296L|HEPH_ENST00000374727.3_Missense_Mutation_p.H296L|HEPH_ENST00000441993.2_Missense_Mutation_p.H296L|HEPH_ENST00000336279.5_Missense_Mutation_p.H26L|HEPH_ENST00000519389.1_Missense_Mutation_p.H347L			Q9BQS7	HEPH_HUMAN	hephaestin	293	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTGGCCTGGCACTTGTTTGGC	0.443																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1039-1041)cAc>cTc		hephaestin							178.0	142.0	154.0					X																	65409595		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409595A>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.878A>T	X.37:g.65409595A>T	ENSP00000343939:p.His293Leu					HEPH_ENST00000374727.3_Missense_Mutation_p.H296L|HEPH_ENST00000343002.2_Missense_Mutation_p.H293L|HEPH_ENST00000336279.5_Missense_Mutation_p.H26L|HEPH_ENST00000419594.1_Missense_Mutation_p.H296L|HEPH_ENST00000441993.2_Missense_Mutation_p.H296L	p.H347L			Q9BQS7	HEPH_HUMAN			6	1219	+			293			Plastocyanin-like 2.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1040A>T		.	.	.	.	.	.	.	.	.	.	A	22.6	4.313128	0.81358	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	4.9	4.9	0.64082	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.90145	3.09	0.45837	D	0.998702	D;D;D	0.69078	0.997;0.965;0.974	P;P;P	0.60173	0.87;0.497;0.656	D	0.97436	1.0018	10	0.87932	D	0	.	12.4414	0.55627	1.0:0.0:0.0:0.0	.	347;296;293	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	L	347;296;26;296;296;293;293	ENSP00000430620:H347L;ENSP00000363859:H296L;ENSP00000337418:H26L;ENSP00000411687:H296L;ENSP00000413211:H296L;ENSP00000343939:H293L;ENSP00000398078:H293L	ENSP00000337418:H26L	H	+	2	0	HEPH	65326320	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.761000	0.91691	1.614000	0.50241	0.481000	0.45027	CAC		0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		66	73	0	0	0	1	0	66	73				
CCR4	1233	broad.mit.edu	37	3	32995561	32995561	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32995561G>A	ENST00000330953.5	+	2	815	c.647G>A	c.(646-648)gGg>gAg	p.G216E		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	216					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATCCCCTTAGGGATCATGCTG	0.468																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(646-648)gGg>gAg		chemokine (C-C motif) receptor 4							141.0	125.0	131.0					3																	32995561		2203	4300	6503	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995561G>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.647G>A	3.37:g.32995561G>A	ENSP00000332659:p.Gly216Glu						p.G216E	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	815	+			216					Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.647G>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.718187	0.30503	.	.	ENSG00000183813	ENST00000330953	T	0.37915	1.17	5.95	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.331503	0.26082	N	0.026458	T	0.38401	0.1039	M	0.66297	2.02	0.09310	N	1	B	0.32010	0.351	B	0.36534	0.227	T	0.35076	-0.9803	10	0.87932	D	0	.	9.4325	0.38620	0.0:0.3593:0.383:0.2577	.	216	P51679	CCR4_HUMAN	E	216	ENSP00000332659:G216E	ENSP00000332659:G216E	G	+	2	0	CCR4	32970565	0.008000	0.16893	0.188000	0.23233	0.412000	0.31113	0.713000	0.25794	0.352000	0.24053	0.655000	0.94253	GGG		0.468	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			38	65	0	0	0	1	0	38	65				
C15orf59	388135	broad.mit.edu	37	15	74032482	74032482	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74032482C>T	ENST00000569673.1	-	3	1862	c.658G>A	c.(658-660)Gag>Aag	p.E220K	C15orf59_ENST00000379822.4_Missense_Mutation_p.E220K|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	220										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGGCAGGCTCAGGGGGCAAG	0.637																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(658-660)Gag>Aag		chromosome 15 open reading frame 59							59.0	48.0	52.0					15																	74032482		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032482C>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.658G>A	15.37:g.74032482C>T	ENSP00000457205:p.Glu220Lys					C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.E220K	p.E220K			Q2T9L4	CO059_HUMAN			3	1862	-			220						Missense_Mutation	SNP	ENST00000569673.1	37	c.658G>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204834	0.22205	.	.	ENSG00000205363	ENST00000379822	T	0.38722	1.12	4.62	3.62	0.41486	.	0.745555	0.12479	N	0.465369	T	0.31420	0.0796	L	0.36672	1.1	0.36986	D	0.894544	P	0.36535	0.557	B	0.28011	0.085	T	0.44832	-0.9302	10	0.54805	T	0.06	-1.9472	12.9486	0.58388	0.0:0.9056:0.0:0.0944	.	220	Q2T9L4	CO059_HUMAN	K	220	ENSP00000369150:E220K	ENSP00000369150:E220K	E	-	1	0	C15orf59	71819535	0.989000	0.36119	0.632000	0.29296	0.038000	0.13279	2.535000	0.45685	2.388000	0.81334	0.561000	0.74099	GAG		0.637	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		15	22	0	0	0	1	0	15	22				
ICAM2	3384	broad.mit.edu	37	17	62084044	62084044	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62084044G>A	ENST00000412356.1	-	3	362	c.8C>T	c.(7-9)tCt>tTt	p.S3F	ICAM2_ENST00000579788.1_Missense_Mutation_p.S3F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578379.1_Intron|ICAM2_ENST00000449662.2_Missense_Mutation_p.S3F|ICAM2_ENST00000418105.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578892.1_Missense_Mutation_p.S3F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	3					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTAACCGAAAGAGGACATCTC	0.602																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(7-9)tCt>tTt		intercellular adhesion molecule 2							73.0	63.0	66.0					17																	62084044		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62084044G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.8C>T	17.37:g.62084044G>A	ENSP00000415283:p.Ser3Phe					ICAM2_ENST00000449662.2_Missense_Mutation_p.S3F|ICAM2_ENST00000578892.1_Missense_Mutation_p.S3F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.S3F|ICAM2_ENST00000579788.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578379.1_Intron|ICAM2_ENST00000418105.1_Missense_Mutation_p.S3F	p.S3F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			3	362	-			3					Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.8C>T	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707177	0.48412	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.04454	3.62;3.62;3.62	4.25	0.0177	0.14113	.	1.583110	0.03450	N	0.210457	T	0.11110	0.0271	L	0.51422	1.61	0.09310	N	1	D;P	0.61080	0.989;0.697	P;B	0.56916	0.809;0.216	T	0.16748	-1.0392	10	0.59425	D	0.04	0.081	2.8596	0.05583	0.3248:0.0:0.4747:0.2006	.	3;3	B7Z316;P13598	.;ICAM2_HUMAN	F	3	ENSP00000415283:S3F;ENSP00000388666:S3F;ENSP00000392634:S3F	ENSP00000415283:S3F	S	-	2	0	ICAM2	59437776	0.063000	0.20901	0.001000	0.08648	0.004000	0.04260	0.016000	0.13377	0.179000	0.19938	0.555000	0.69702	TCT		0.602	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			17	27	0	0	0	1	0	17	27				
CYP4A22	284541	broad.mit.edu	37	1	47610115	47610115	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:47610115G>A	ENST00000371891.3	+	7	908	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CYP4A22_ENST00000371890.3_Missense_Mutation_p.G241E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D293N|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	293						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATTTTCTGGACATCCTCCT	0.502																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(877-879)Gac>Aac		cytochrome P450, family 4, subfamily A, polypeptide 22							161.0	152.0	155.0					1																	47610115		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610115G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.877G>A	1.37:g.47610115G>A	ENSP00000360958:p.Asp293Asn					CYP4A22_ENST00000371890.3_Missense_Mutation_p.G241E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D293N	p.D293N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			7	908	+			293					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.877G>A	CCDS30707.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.86|11.86	1.764957|1.764957	0.31228|0.31228	.|.	.|.	ENSG00000162365|ENSG00000162365	ENST00000371891;ENST00000294337|ENST00000371890	T;T|T	0.72167|0.71341	-0.63;-0.63|-0.56	1.51|1.51	1.51|1.51	0.23008|0.23008	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71753|0.71753	0.3377|0.3377	H|H	0.94542|0.94542	3.55|3.55	0.52099|0.52099	D|D	0.999944|0.999944	D|B	0.89917|0.22003	1.0|0.063	D|B	0.97110|0.09377	1.0|0.004	T|T	0.66701|0.66701	-0.5857|-0.5857	10|9	0.66056|0.05721	D|T	0.02|0.95	.|.	11.2947|11.2947	0.49272|0.49272	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	293|241	Q5TCH4|Q5TCH5	CP4AM_HUMAN|.	N|E	293|241	ENSP00000360958:D293N;ENSP00000294337:D293N|ENSP00000360957:G241E	ENSP00000294337:D293N|ENSP00000360957:G241E	D|G	+|+	1|2	0|0	CYP4A22|CYP4A22	47382702|47382702	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.339000|0.339000	0.28857|0.28857	8.649000|8.649000	0.91067|0.91067	0.842000|0.842000	0.35045|0.35045	0.194000|0.194000	0.17425|0.17425	GAC|GGA		0.502	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		48	46	0	0	0	1	0	48	46				
VPS13B	157680	broad.mit.edu	37	8	100829876	100829876	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:100829876C>T	ENST00000358544.2	+	45	8392	c.8281C>T	c.(8281-8283)Cat>Tat	p.H2761Y	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H2736Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2761					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTTCGGGAACATTTTGACTG	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8281-8283)Cat>Tat		vacuolar protein sorting 13 homolog B (yeast)							133.0	123.0	126.0					8																	100829876		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100829876C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8281C>T	8.37:g.100829876C>T	ENSP00000351346:p.His2761Tyr					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H2736Y	p.H2761Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		45	8392	+	Breast(36;3.73e-07)		2761					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8281C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399207	0.62177	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69685	-0.42;-0.42	5.73	5.73	0.89815	.	0.214890	0.38778	N	0.001567	T	0.63965	0.2556	L	0.27053	0.805	0.80722	D	1	B;D	0.53619	0.244;0.961	B;P	0.48270	0.14;0.572	T	0.62300	-0.6883	10	0.37606	T	0.19	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	2736;2761	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2736;2761	ENSP00000349685:H2736Y;ENSP00000351346:H2761Y	ENSP00000349685:H2736Y	H	+	1	0	VPS13B	100899052	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.256000	0.58810	2.861000	0.98227	0.655000	0.94253	CAT		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		28	56	0	0	0	1	0	28	56				
MINPP1	9562	broad.mit.edu	37	10	89312167	89312167	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:89312167C>A	ENST00000371996.4	+	5	1437	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.L265I	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	466					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CAAGGACATCCTTCAGAGTTG	0.358																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1396-1398)Ctt>Att		multiple inositol-polyphosphate phosphatase 1							95.0	97.0	96.0					10																	89312167		2203	4300	6503	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89312167C>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1396C>A	10.37:g.89312167C>A	ENSP00000361064:p.Leu466Ile					MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.L265I|MINPP1_ENST00000371994.4_3'UTR	p.L466I	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	5	1437	+		Colorectal(252;0.122)	466					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.1396C>A	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138768	0.94560	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.76968	-1.06;-1.06	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	L	0.34521	1.04	0.80722	D	1	B	0.28378	0.209	B	0.24848	0.056	T	0.63747	-0.6567	10	0.20519	T	0.43	-8.8011	19.5894	0.95501	0.0:1.0:0.0:0.0	.	466	Q9UNW1	MINP1_HUMAN	I	466;325;265	ENSP00000361064:L466I;ENSP00000437823:L265I	ENSP00000361064:L466I	L	+	1	0	MINPP1	89302147	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.178000	0.77657	2.878000	0.98634	0.650000	0.86243	CTT		0.358	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			41	58	1	0	1.67305e-13	1	1.69743e-13	41	58				
CAMTA1	23261	broad.mit.edu	37	1	7725001	7725001	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7725001G>A	ENST00000303635.7	+	9	2601	c.2394G>A	c.(2392-2394)ggG>ggA	p.G798G	CAMTA1_ENST00000439411.2_Silent_p.G798G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	798					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGGTGTCGGGGGACAGCACGG	0.642			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2392-2394)ggG>ggA		calmodulin binding transcription activator 1							129.0	150.0	143.0					1																	7725001		2203	4299	6502	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7725001G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2394G>A	1.37:g.7725001G>A						CAMTA1_ENST00000439411.2_Silent_p.G798G	p.G798G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2601	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	798					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2394G>A	CCDS30576.1																																																																																				0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		109	85	0	0	0	1	0	109	85				
KNTC1	9735	broad.mit.edu	37	12	123089936	123089936	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123089936C>T	ENST00000333479.7	+	51	5647	c.5470C>T	c.(5470-5472)Cta>Tta	p.L1824L	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.L249L|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1824					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GGAAAAATGGCTATGCCCTTC	0.363																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5470-5472)Cta>Tta		kinetochore associated 1							60.0	60.0	60.0					12																	123089936		1861	4116	5977	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123089936C>T		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5470C>T	12.37:g.123089936C>T						KNTC1_ENST00000537348.1_Silent_p.L249L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	p.L1824L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	51	5647	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1824					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5470C>T	CCDS45002.1																																																																																				0.363	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			8	9	0	0	0	1	0	8	9				
SLC6A8	6535	broad.mit.edu	37	X	152957558	152957558	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152957558G>A	ENST00000253122.5	+	4	1249	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A8_ENST00000430077.2_Missense_Mutation_p.G143E	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	258					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AAATCCACGGGAAAGGTACCA	0.632																																						ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(772-774)gGa>gAa		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						49.0	33.0	38.0					X																	152957558		2202	4298	6500	SO:0001583	missense	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152957558G>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.773G>A	X.37:g.152957558G>A	ENSP00000253122:p.Gly258Glu					SLC6A8_ENST00000430077.2_Missense_Mutation_p.G143E	p.G258E	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			4	1249	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		258					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	c.773G>A	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.204187	0.79127	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.80653	-1.4;-1.4	4.09	4.09	0.47781	.	.	.	.	.	D	0.90497	0.7023	M	0.88640	2.97	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.79784	0.993;0.989;0.989	D	0.92517	0.6021	9	0.87932	D	0	.	14.3631	0.66787	0.0:0.0:1.0:0.0	.	258;277;258	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	E	258;143	ENSP00000253122:G258E;ENSP00000403041:G143E	ENSP00000253122:G258E	G	+	2	0	SLC6A8	152610752	1.000000	0.71417	0.744000	0.31058	0.728000	0.41692	9.590000	0.98238	1.878000	0.54408	0.529000	0.55759	GGA		0.632	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			11	12	0	0	0	1	0	11	12				
CYP4F2	8529	broad.mit.edu	37	19	15990174	15990174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15990174G>A	ENST00000221700.6	-	12	1474	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGAGAAGGGAATAAAAGC	0.582																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1378-1380)cCc>cTc		cytochrome P450, family 4, subfamily F, polypeptide 2							146.0	150.0	149.0					19																	15990174		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990174G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1379C>T	19.37:g.15990174G>A	ENSP00000221700:p.Pro460Leu					CYP4F2_ENST00000592328.1_Missense_Mutation_p.P460L	p.P460L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			12	1474	-			460						Missense_Mutation	SNP	ENST00000221700.6	37	c.1379C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	19.27	3.796261	0.70567	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.84146	-1.81	3.05	3.05	0.35203	.	0.000000	0.64402	U	0.000004	D	0.94866	0.8341	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95693	0.8742	10	0.87932	D	0	.	11.868	0.52505	0.0:0.0:1.0:0.0	.	460	P78329	CP4F2_HUMAN	L	460;311	ENSP00000221700:P460L	ENSP00000221700:P460L	P	-	2	0	CYP4F2	15851174	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	8.250000	0.89835	1.677000	0.50941	0.491000	0.48974	CCC		0.582	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		59	108	0	0	0	1	0	59	108				
NIT2	56954	broad.mit.edu	37	3	100074063	100074063	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100074063T>A	ENST00000394140.4	+	10	873	c.782T>A	c.(781-783)tTt>tAt	p.F261Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	261	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ATCCCCGTTTTTAGACAGAAG	0.408																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(781-783)tTt>tAt		nitrilase family, member 2							80.0	78.0	79.0					3																	100074063		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100074063T>A	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.782T>A	3.37:g.100074063T>A	ENSP00000377696:p.Phe261Tyr						p.F261Y	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			10	873	+			261			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.782T>A	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	T	0.056	-1.236147	0.01505	.	.	ENSG00000114021	ENST00000394140	T	0.74106	-0.81	5.78	3.26	0.37387	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.566915	0.19148	N	0.121508	T	0.50257	0.1605	L	0.27944	0.81	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38090	-0.9677	10	0.02654	T	1	-7.6719	2.3532	0.04289	0.3055:0.0706:0.1272:0.4966	.	261	Q9NQR4	NIT2_HUMAN	Y	261	ENSP00000377696:F261Y	ENSP00000377696:F261Y	F	+	2	0	NIT2	101556753	0.900000	0.30661	0.695000	0.30226	0.270000	0.26580	0.795000	0.26972	0.360000	0.24265	-0.353000	0.07706	TTT		0.408	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		22	28	0	0	0	1	0	22	28				
FAM135B	51059	broad.mit.edu	37	8	139160871	139160871	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139160871T>C	ENST00000395297.1	-	14	3510	c.3340A>G	c.(3340-3342)Agt>Ggt	p.S1114G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1114										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)			GTTAAGTCACTGTACAGAAAT	0.368										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.(3340-3342)Agt>Ggt		family with sequence similarity 135, member B							88.0	81.0	83.0					8																	139160871		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160871T>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.3340A>G	8.37:g.139160871T>C	ENSP00000378710:p.Ser1114Gly	HNSCC(54;0.14)					p.S1114G	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3510	-	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)		1114					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3340A>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073462	0.76415	.	.	ENSG00000147724	ENST00000395297	T	0.25579	1.79	5.78	5.78	0.91487	.	0.045018	0.85682	D	0.000000	T	0.54029	0.1833	M	0.80422	2.495	0.58432	D	0.999995	D;D	0.89917	1.0;0.996	D;P	0.79784	0.993;0.874	T	0.59700	-0.7405	10	0.87932	D	0	-17.6507	15.2978	0.73922	0.0:0.0:0.0:1.0	.	1114;1114	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	G	1114	ENSP00000378710:S1114G	ENSP00000378710:S1114G	S	-	1	0	FAM135B	139230053	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.242000	0.72376	2.204000	0.70986	0.528000	0.53228	AGT		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	42	0	0	0	1	0	20	42				
FSCB	84075	broad.mit.edu	37	14	44975196	44975196	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:44975196T>A	ENST00000340446.4	-	1	1286	c.995A>T	c.(994-996)gAa>gTa	p.E332V	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	332	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGCTGAATTTCAGCAGGAAA	0.522																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(994-996)gAa>gTa		fibrous sheath CABYR binding protein							59.0	67.0	64.0					14																	44975196		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975196T>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.995A>T	14.37:g.44975196T>A	ENSP00000344579:p.Glu332Val						p.E332V	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1286	-			332			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.995A>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904031	0.52333	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17213	2.29	4.73	3.6	0.41247	.	.	.	.	.	T	0.26666	0.0652	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.04078	-1.0979	9	0.59425	D	0.04	.	8.1571	0.31176	0.0:0.0966:0.0:0.9034	.	332	Q5H9T9	FSCB_HUMAN	V	332	ENSP00000344579:E332V	ENSP00000344579:E332V	E	-	2	0	FSCB	44044946	0.088000	0.21588	0.041000	0.18516	0.084000	0.17831	1.749000	0.38319	2.113000	0.64589	0.462000	0.41574	GAA		0.522	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		39	65	0	0	0	1	0	39	65				
CT47B1	643311	broad.mit.edu	37	X	120008973	120008973	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120008973G>A	ENST00000371311.3	-	1	806	c.552C>T	c.(550-552)ggC>ggT	p.G184G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	184										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CGAGGCCCTCGCCTTCTGGGG	0.706													N|||	1	0.000264901	0.0008	0.0	3775	,	,		9684	0.0		0.0	False		,,,				2504	0.0					ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(550-552)ggC>ggT		cancer/testis antigen family 47, member B1							33.0	32.0	32.0					X																	120008973		692	1589	2281	SO:0001819	synonymous_variant	643311							g.chrX:120008973G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.552C>T	X.37:g.120008973G>A							p.G184G	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	806	-			184					A6NM97	Silent	SNP	ENST00000371311.3	37	c.552C>T	CCDS48161.1																																																																																				0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		38	43	0	0	0	1	0	38	43				
HTR1A	3350	broad.mit.edu	37	5	63256536	63256536	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:63256536C>A	ENST00000323865.3	-	1	1244	c.1011G>T	c.(1009-1011)ctG>ctT	p.L337L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	337					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCTCTCGGGCCAGGGCCATCT	0.602																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1009-1011)ctG>ctT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						101.0	104.0	103.0					5																	63256536		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256536C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1011G>T	5.37:g.63256536C>A						RP11-158J3.2_ENST00000502882.1_RNA	p.L337L	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1244	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	337					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1011G>T	CCDS34168.1																																																																																				0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		39	101	1	0	4.67007e-22	1	4.76855e-22	39	101				
FMR1NB	158521	broad.mit.edu	37	X	147106430	147106430	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147106430G>A	ENST00000370467.3	+	5	752	c.678G>A	c.(676-678)acG>acA	p.T226T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	226						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTGTAACGGGTTTGAAGA	0.413																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(676-678)acG>acA		fragile X mental retardation 1 neighbor							143.0	125.0	131.0					X																	147106430		2203	4300	6503	SO:0001819	synonymous_variant	158521					integral to membrane		g.chrX:147106430G>A		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.678G>A	X.37:g.147106430G>A							p.T226T	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			5	752	+	Acute lymphoblastic leukemia(192;6.56e-05)		226					D3DWT3	Silent	SNP	ENST00000370467.3	37	c.678G>A	CCDS14683.1																																																																																				0.413	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		30	81	0	0	0	1	0	30	81				
OR4S1	256148	broad.mit.edu	37	11	48328429	48328429	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:48328429A>G	ENST00000319988.1	+	1	655	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTATGTTATCATCTTACTGAA	0.478																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(655-657)Atc>Gtc		olfactory receptor, family 4, subfamily S, member 1							181.0	158.0	166.0					11																	48328429		2201	4298	6499	SO:0001583	missense	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328429A>G	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.655A>G	11.37:g.48328429A>G	ENSP00000321447:p.Ile219Val						p.I219V	NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN			1	655	+			219					Q6IFB4	Missense_Mutation	SNP	ENST00000319988.1	37	c.655A>G	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.211277	0.39102	.	.	ENSG00000176555	ENST00000319988	T	0.00374	7.72	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00875	0.0029	M	0.72479	2.2	0.27153	N	0.96137	D	0.71674	0.998	D	0.70935	0.971	T	0.50092	-0.8868	9	0.72032	D	0.01	.	12.9764	0.58540	1.0:0.0:0.0:0.0	.	219	Q8NGB4	OR4S1_HUMAN	V	219	ENSP00000321447:I219V	ENSP00000321447:I219V	I	+	1	0	OR4S1	48285005	0.789000	0.28775	0.726000	0.30738	0.024000	0.10985	2.579000	0.46059	2.020000	0.59435	0.533000	0.62120	ATC		0.478	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		45	75	0	0	0	1	0	45	75				
PCDHB13	56123	broad.mit.edu	37	5	140594901	140594901	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140594901C>T	ENST00000341948.4	+	1	1393	c.1206C>T	c.(1204-1206)acC>acT	p.T402T		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCCTACTAACGG	0.453																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1204-1206)acC>acT									88.0	86.0	87.0					5																	140594901		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594901C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1206C>T	5.37:g.140594901C>T							p.T402T	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1393	+			402			Cadherin 4.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1206C>T	CCDS4255.1																																																																																				0.453	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		34	57	0	0	0	1	0	34	57				
PNCK	139728	broad.mit.edu	37	X	152936862	152936862	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152936862C>T	ENST00000370150.1	-	7	717				PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Missense_Mutation_p.M187I|PNCK_ENST00000370145.4_Intron|PNCK_ENST00000393831.2_Missense_Mutation_p.M187I|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACGCAGCCATGCCGCTCA	0.642																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(559-561)atG>atA		pregnancy up-regulated nonubiquitous CaM kinase							66.0	66.0	66.0					X																	152936862		2203	4299	6502	SO:0001627	intron_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936862C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.539-47G>A	X.37:g.152936862C>T						PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370142.1_Missense_Mutation_p.M187I	p.M187I	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			7	995	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		179			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.561G>A		.	.	.	.	.	.	.	.	.	.	c	5.834	0.338063	0.11013	.	.	ENSG00000130822	ENST00000393831;ENST00000370142	T;T	0.60424	0.19;0.19	4.73	0.51	0.16983	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44097	-0.9350	6	0.52906	T	0.07	.	1.6105	0.02692	0.1669:0.4609:0.1612:0.211	.	.	.	.	I	187	ENSP00000377417:M187I;ENSP00000359161:M187I	ENSP00000359161:M187I	M	-	3	0	PNCK	152590056	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.502000	0.06390	0.251000	0.21505	0.436000	0.28706	ATG		0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		34	59	0	0	0	1	0	34	59				
SLC10A3	8273	broad.mit.edu	37	X	153716489	153716489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153716489G>A	ENST00000393587.4	-	3	1054	c.791C>T	c.(790-792)tCg>tTg	p.S264L	UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.S235L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S319L|SLC10A3_ENST00000263512.4_Missense_Mutation_p.S264L|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	264					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					GCCGCCAGGCGACGAGCAGGT	0.622																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(790-792)tCg>tTg		solute carrier family 10, member 3							51.0	52.0	52.0					X																	153716489		2203	4300	6503	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716489G>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.791C>T	X.37:g.153716489G>A	ENSP00000377212:p.Ser264Leu					SLC10A3_ENST00000369649.4_Missense_Mutation_p.S235L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S319L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.S264L	p.S264L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1289	-	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)		264					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.791C>T	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327378	0.41197	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.93	4.93	0.64822	.	0.191479	0.33401	U	0.004948	T	0.16514	0.0397	M	0.62088	1.915	0.27443	N	0.953669	D;D	0.55800	0.973;0.973	P;P	0.44561	0.453;0.453	T	0.07693	-1.0759	10	0.40728	T	0.16	-1.0887	15.9596	0.79918	0.0:0.0:1.0:0.0	.	235;264	Q9BSL2;P09131	.;P3_HUMAN	L	235;319;264;264	ENSP00000358663:S235L;ENSP00000377211:S319L;ENSP00000263512:S264L;ENSP00000377212:S264L	ENSP00000263512:S264L	S	-	2	0	SLC10A3	153369683	0.999000	0.42202	0.415000	0.26534	0.366000	0.29705	8.419000	0.90253	2.015000	0.59207	0.594000	0.82650	TCG		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		44	61	0	0	0	1	0	44	61				
KDR	3791	broad.mit.edu	37	4	55968595	55968595	+	Missense_Mutation	SNP	C	C	T	rs199504669		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55968595C>T	ENST00000263923.4	-	14	2363	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	690	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|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)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCCAGATGCCGTGCATGAG	0.458			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			C|||	0	0.0	0.0	0.0	5008	,	,		16530	0.0		0.0	False		,,,				2504	0.0					ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2068-2070)Gca>Aca		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						183.0	157.0	166.0					4																	55968595		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968595C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2068G>A	4.37:g.55968595C>T	ENSP00000263923:p.Ala690Thr	TSP Lung(20;0.16)					p.A690T	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2363	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		690			Ig-like C2-type 7.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2068G>A	CCDS3497.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.651	1.141543	0.21205	.	.	ENSG00000128052	ENST00000263923	T	0.68331	-0.32	6.02	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.362397	0.31404	N	0.007717	T	0.61677	0.2366	M	0.72576	2.205	0.09310	N	1	B	0.14438	0.01	B	0.24394	0.053	T	0.49986	-0.8880	10	0.07030	T	0.85	.	11.913	0.52749	0.0:0.8534:0.0:0.1466	.	690	P35968	VGFR2_HUMAN	T	690	ENSP00000263923:A690T	ENSP00000263923:A690T	A	-	1	0	KDR	55663352	0.173000	0.23056	0.017000	0.16124	0.080000	0.17528	2.077000	0.41557	0.830000	0.34757	-0.140000	0.14226	GCA		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			13	61	0	0	0	1	0	13	61				
CADPS	8618	broad.mit.edu	37	3	62570986	62570986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62570986G>A	ENST00000383710.4	-	8	1800	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	CADPS_ENST00000357948.3_Missense_Mutation_p.P484L|CADPS_ENST00000283269.9_Missense_Mutation_p.P484L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	484					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTTCGGGGTGGGATGGAGAAT	0.428																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(1450-1452)cCc>cTc		Ca++-dependent secretion activator							135.0	139.0	137.0					3																	62570986		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62570986G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1451C>T	3.37:g.62570986G>A	ENSP00000373215:p.Pro484Leu					CADPS_ENST00000357948.3_Missense_Mutation_p.P484L|CADPS_ENST00000283269.9_Missense_Mutation_p.P484L	p.P484L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	8	1800	-		Lung SC(41;0.0452)	484					A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.1451C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091130	0.94149	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.60040	0.22;0.22;0.22	5.84	5.84	0.93424	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.997	T	0.78084	-0.2342	10	0.87932	D	0	.	20.1434	0.98067	0.0:0.0:1.0:0.0	.	484;484;484	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	L	484	ENSP00000373215:P484L;ENSP00000350632:P484L;ENSP00000283269:P484L	ENSP00000283269:P484L	P	-	2	0	CADPS	62546026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.769000	0.95229	0.563000	0.77884	CCC		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		41	80	0	0	0	1	0	41	80				
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56431806C>T	ENST00000302969.2	+	1	669	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	215						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(643-645)ttC>ttT		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							173.0	146.0	155.0					11																	56431806		2201	4296	6497	SO:0001819	synonymous_variant	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431806C>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.645C>T	11.37:g.56431806C>T							p.F215F	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	669	+			215					Q6IF61	Silent	SNP	ENST00000302969.2	37	c.645C>T	CCDS31535.1																																																																																				0.488	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		46	68	0	0	0	1	0	46	68				
CSMD1	64478	broad.mit.edu	37	8	2808744	2808744	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2808744A>T	ENST00000520002.1	-	67	10651	c.10096T>A	c.(10096-10098)Tta>Ata	p.L3366I	CSMD1_ENST00000602557.1_Missense_Mutation_p.L3366I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3189I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L3189I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3188I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3365I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3366						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTTTCCCTAAATATTCATAA	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10096-10098)Tta>Ata		CUB and Sushi multiple domains 1							66.0	63.0	64.0					8																	2808744		1874	4088	5962	SO:0001583	missense	64478					integral to membrane		g.chr8:2808744A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10096T>A	8.37:g.2808744A>T	ENSP00000430733:p.Leu3366Ile					CSMD1_ENST00000602723.1_Missense_Mutation_p.L3189I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3189I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3365I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L3366I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3188I	p.L3366I			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	67	10651	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3366					Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10096T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.01|13.01	2.108941|2.108941	0.37242|0.37242	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.26957	.|1.7;1.84;1.87;1.7	5.35|5.35	1.6|1.6	0.23607|0.23607	.|.	.|0.096865	.|0.39274	.|N	.|0.001403	T|T	0.24236|0.24236	0.0587|0.0587	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.49253	.|0.457;0.035;0.921	.|B;B;P	.|0.50162	.|0.174;0.028;0.633	T|T	0.12993|0.12993	-1.0526|-1.0526	5|10	.|0.18276	.|T	.|0.48	.|.	4.0419|4.0419	0.09755|0.09755	0.5241:0.0:0.3264:0.1495|0.5241:0.0:0.3264:0.1495	.|.	.|3366;3366;3188	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	Y|I	2767|3189;3366;3227;3365;3188	.|ENSP00000383047:L3189I;ENSP00000430733:L3366I;ENSP00000441462:L3365I;ENSP00000446243:L3188I	.|ENSP00000320445:L3227I	F|L	-|-	2|1	0|2	CSMD1|CSMD1	2796151|2796151	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.509000|0.509000	0.34042|0.34042	2.682000|2.682000	0.46934|0.46934	0.303000|0.303000	0.22785|0.22785	-0.304000|-0.304000	0.09214|0.09214	TTT|TTA		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	11	0	0	0	1	0	3	11				
MTFMT	123263	broad.mit.edu	37	15	65297257	65297257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65297257G>A	ENST00000220058.4	-	8	923	c.910C>T	c.(910-912)Cag>Tag	p.Q304*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	304						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATAAGAGCCTGTCCCGTTAAT	0.299																																						ENST00000220058.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10						c.(910-912)Cag>Tag		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						129.0	120.0	123.0					15																	65297257		1816	4078	5894	SO:0001587	stop_gained	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65297257G>A	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.910C>T	15.37:g.65297257G>A	ENSP00000220058:p.Gln304*						p.Q304*	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN			8	923	-			304					B7Z734	Nonsense_Mutation	SNP	ENST00000220058.4	37	c.910C>T	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768068	0.31320	.	.	ENSG00000103707	ENST00000220058	.	.	.	5.3	4.38	0.52667	.	0.965948	0.08612	N	0.919859	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	3.0E-4	7.5006	0.27516	0.0853:0.0:0.7524:0.1623	.	.	.	.	X	304	.	ENSP00000220058:Q304X	Q	-	1	0	MTFMT	63084310	0.144000	0.22641	0.123000	0.21794	0.012000	0.07955	0.818000	0.27295	1.373000	0.46208	0.644000	0.83932	CAG		0.299	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		21	22	0	0	0	1	0	21	22				
ZNF318	24149	broad.mit.edu	37	6	43316160	43316160	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316160A>T	ENST00000361428.2	-	6	3051	c.2974T>A	c.(2974-2976)Tta>Ata	p.L992I	ZNF318_ENST00000318149.3_Missense_Mutation_p.L992I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	992					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTCACTTAAAGACTTCTGG	0.448																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2974-2976)Tta>Ata		zinc finger protein 318							224.0	219.0	221.0					6																	43316160		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316160A>T	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2974T>A	6.37:g.43316160A>T	ENSP00000354964:p.Leu992Ile					ZNF318_ENST00000318149.3_Missense_Mutation_p.L992I	p.L992I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3051	-			992					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2974T>A	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	A	14.05	2.418916	0.42918	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.30182	1.54;2.72	5.8	4.63	0.57726	.	0.472179	0.22860	N	0.054759	T	0.07638	0.0192	N	0.08118	0	0.22226	N	0.999272	B	0.29301	0.241	B	0.29785	0.107	T	0.19160	-1.0314	10	0.59425	D	0.04	-3.3459	13.2977	0.60307	0.8682:0.1318:0.0:0.0	.	992	Q5VUA4	ZN318_HUMAN	I	992	ENSP00000323032:L992I;ENSP00000354964:L992I	ENSP00000323032:L992I	L	-	1	2	ZNF318	43424138	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.202000	0.42743	0.990000	0.38787	0.533000	0.62120	TTA		0.448	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		40	111	0	0	0	1	0	40	111				
MAGEL2	54551	broad.mit.edu	37	15	23889507	23889507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23889507C>T	ENST00000532292.1	-	1	1668	c.1574G>A	c.(1573-1575)aGg>aAg	p.R525K		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	408					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAGATCCTCCCTGACACAGTT	0.443																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1573-1575)aGg>aAg		MAGE-like 2							65.0	62.0	63.0					15																	23889507		1890	4119	6009	SO:0001583	missense	54551							g.chr15:23889507C>T	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1574G>A	15.37:g.23889507C>T	ENSP00000433433:p.Arg525Lys						p.R525K	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1668	-		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)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1574G>A		.	.	.	.	.	.	.	.	.	.	C	2.331	-0.353467	0.05173	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.57	2.68	0.31781	.	.	.	.	.	T	0.31513	0.0799	L	0.31371	0.925	0.09310	N	1	.	.	.	.	.	.	T	0.17684	-1.0361	5	.	.	.	.	6.7255	0.23355	0.0:0.791:0.0:0.209	.	.	.	.	R	557	.	.	G	-	1	0	MAGEL2	21440600	0.950000	0.32346	0.171000	0.22900	0.132000	0.20833	1.770000	0.38532	1.293000	0.44690	0.467000	0.42956	GGG		0.443	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		10	19	0	0	0	1	0	10	19				
UBR2	23304	broad.mit.edu	37	6	42615901	42615901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42615901C>T	ENST00000372899.1	+	22	2713	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	UBR2_ENST00000372901.1_Missense_Mutation_p.H819Y|UBR2_ENST00000372883.3_Missense_Mutation_p.H323Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	819					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGCAGTTGCCCATTTCAAGTG	0.353																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2455-2457)Cat>Tat		ubiquitin protein ligase E3 component n-recognin 2							282.0	251.0	261.0					6																	42615901		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42615901C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2455C>T	6.37:g.42615901C>T	ENSP00000361990:p.His819Tyr					UBR2_ENST00000372901.1_Missense_Mutation_p.H819Y|UBR2_ENST00000372883.3_Missense_Mutation_p.H323Y	p.H819Y	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		22	2713	+	Colorectal(47;0.196)		819					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2455C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423481	0.25639	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.48836	0.8;0.8;0.8	5.83	3.77	0.43336	.	0.441542	0.26359	N	0.024825	T	0.06735	0.0172	N	0.14661	0.345	0.28546	N	0.911843	B;B	0.32203	0.36;0.017	B;B	0.29862	0.108;0.007	T	0.31888	-0.9927	10	0.05436	T	0.98	-3.9268	2.2091	0.03943	0.2335:0.4003:0.0:0.3662	.	819;819	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	Y	819;819;323	ENSP00000361990:H819Y;ENSP00000361992:H819Y;ENSP00000361974:H323Y	ENSP00000361974:H323Y	H	+	1	0	UBR2	42723879	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.675000	0.54605	1.396000	0.46663	0.655000	0.94253	CAT		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		25	33	0	0	0	1	0	25	33				
NF1	4763	broad.mit.edu	37	17	29665123	29665123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:29665123G>A	ENST00000358273.4	+	45	7168	c.6785G>A	c.(6784-6786)gGg>gAg	p.G2262E	NF1_ENST00000444181.2_Missense_Mutation_p.G55E|NF1_ENST00000356175.3_Missense_Mutation_p.G2241E|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2262					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTGTCTCATGGGCAGATAAAG	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6784-6786)gGg>gAg		neurofibromin 1							160.0	152.0	155.0					17																	29665123		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665123G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6785G>A	17.37:g.29665123G>A	ENSP00000351015:p.Gly2262Glu	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.G2241E|NF1_ENST00000444181.2_Missense_Mutation_p.G55E|NF1_ENST00000417592.2_Intron	p.G2262E	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	45	7168	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2262					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.6785G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689664	0.48097	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.61980	1.67;0.06;1.67;0.14	5.53	5.53	0.82687	Armadillo-type fold (2);	0.152963	0.64402	D	0.000017	T	0.58133	0.2101	L	0.36672	1.1	0.80722	D	1	P;B	0.50272	0.933;0.001	P;B	0.48654	0.585;0.005	T	0.53872	-0.8377	10	0.02654	T	1	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	2241;2262	P21359-2;P21359	.;NF1_HUMAN	E	2262;2241;1907;55	ENSP00000351015:G2262E;ENSP00000348498:G2241E;ENSP00000389907:G1907E;ENSP00000396481:G55E	ENSP00000348498:G2241E	G	+	2	0	NF1	26689249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.274000	0.95731	2.763000	0.94921	0.563000	0.77884	GGG		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		66	110	0	0	0	1	0	66	110				
KIF26A	26153	broad.mit.edu	37	14	104642402	104642402	+	Missense_Mutation	SNP	G	G	A	rs543991399		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642402G>A	ENST00000423312.2	+	12	3277	c.3277G>A	c.(3277-3279)Ggg>Agg	p.G1093R	KIF26A_ENST00000315264.7_Missense_Mutation_p.G954R	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1093					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCCCTGAGGGGGGGCCCCT	0.677																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(2860-2862)Ggg>Agg		kinesin family member 26A							5.0	7.0	6.0					14																	104642402		1780	3944	5724	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642402G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3277G>A	14.37:g.104642402G>A	ENSP00000388241:p.Gly1093Arg					KIF26A_ENST00000423312.2_Missense_Mutation_p.G1093R	p.G954R			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3238	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1093					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2860G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	6.647	0.487893	0.12641	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78246	-1.16;-1.16	1.56	0.598	0.17512	.	.	.	.	.	T	0.78735	0.4330	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64588	-0.6372	9	0.42905	T	0.14	.	5.5832	0.17260	0.0:0.3519:0.6481:0.0	.	1093	Q9ULI4	KI26A_HUMAN	R	1093;954	ENSP00000388241:G1093R;ENSP00000325452:G954R	ENSP00000325452:G954R	G	+	1	0	KIF26A	103712155	.	.	0.001000	0.08648	0.027000	0.11550	.	.	0.205000	0.20568	0.491000	0.48974	GGG		0.677	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			3	4	0	0	0	1	0	3	4				
ANO2	57101	broad.mit.edu	37	12	5842044	5842044	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5842044C>T	ENST00000356134.5	-	15	1497		c.e15-1		ANO2_ENST00000546188.1_Intron|ANO2_ENST00000538154.1_Intron|ANO2_ENST00000327087.8_Splice_Site	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGGCACGTTCCTGGGGATAGC	0.488																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.e14-1		anoctamin 2							150.0	146.0	147.0					12																	5842044		2020	4187	6207	SO:0001630	splice_region_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5842044C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1426-1G>A	12.37:g.5842044C>T						ANO2_ENST00000546188.1_Intron|ANO2_ENST00000356134.5_Splice_Site|ANO2_ENST00000538154.1_Intron				Q9NQ90	ANO2_HUMAN			14	1494	-								C4N787|Q9H847	Splice_Site	SNP	ENST00000356134.5	37			.	.	.	.	.	.	.	.	.	.	C	17.45	3.391933	0.62066	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000541277	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2898	0.73857	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANO2	5712305	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.695000	0.54749	2.476000	0.83614	0.563000	0.77884	.		0.488	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	Intron	16	24	0	0	0	1	0	16	24				
PPP1R3A	5506	broad.mit.edu	37	7	113519998	113519998	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113519998G>A	ENST00000284601.3	-	4	1217	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	383					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S383S(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCCCTTTACGGAGCTTTCTG	0.398																																						ENST00000284601.3																			2	Substitution - coding silent(2)	p.S383S(2)	lung(2)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1147-1149)tcC>tcT		protein phosphatase 1, regulatory subunit 3A							169.0	170.0	169.0					7																	113519998		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519998G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1149C>T	7.37:g.113519998G>A							p.S383S	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1217	-			383					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1149C>T	CCDS5759.1																																																																																				0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		68	123	0	0	0	1	0	68	123				
ZNF718	255403	broad.mit.edu	37	4	154896	154896	+	lincRNA	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154896A>T	ENST00000510175.1	+	0	331							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACCCAGAAAAAAACAATTCA	0.249																																						ENST00000510175.1																			0													zinc finger protein 718							25.0	24.0	25.0					4																	154896		1815	4092	5907			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:154896A>T	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.154896A>T										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	331	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.249	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		3	8	0	0	0	1	0	3	8				
CCR9	10803	broad.mit.edu	37	3	45942755	45942755	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942755G>A	ENST00000357632.2	+	3	655	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CCR9_ENST00000395963.2_Missense_Mutation_p.E147K|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.E147K|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	159					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TACTTGGAGGGAGAAAAGGCT	0.468																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(475-477)Gag>Aag		chemokine (C-C motif) receptor 9							109.0	104.0	106.0					3																	45942755		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942755G>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.475G>A	3.37:g.45942755G>A	ENSP00000350256:p.Glu159Lys					LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.E147K|CCR9_ENST00000355983.2_Missense_Mutation_p.E147K	p.E159K	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	655	+			159					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.475G>A	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	G	5.935	0.356553	0.11239	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.35048	1.33;1.33;1.33	4.96	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.424262	0.24587	N	0.037249	T	0.12987	0.0315	N	0.01134	-0.995	0.27962	N	0.936725	B	0.02656	0.0	B	0.01281	0.0	T	0.13683	-1.0500	10	0.33940	T	0.23	.	10.4259	0.44378	0.1481:0.7037:0.1481:0.0	.	159	P51686	CCR9_HUMAN	K	159;147;147	ENSP00000350256:E159K;ENSP00000379292:E147K;ENSP00000348260:E147K	ENSP00000348260:E147K	E	+	1	0	CCR9	45917759	0.939000	0.31865	1.000000	0.80357	0.851000	0.48451	2.012000	0.40932	1.077000	0.40990	-0.256000	0.11100	GAG		0.468	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			25	30	0	0	0	1	0	25	30				
NAT6	24142	broad.mit.edu	37	3	50334273	50334273	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50334273G>A	ENST00000443842.1	-	2	1429	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000417393.1_Silent_p.L208L|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000354862.4_Silent_p.L230L|NAT6_ENST00000443094.2_Silent_p.L208L			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	208						cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCATTAAGCAGGGTGGCAGGC	0.647																																						ENST00000443842.1																			0				endometrium(3)|lung(1)|skin(1)	5						c.(622-624)Ctg>Ttg		N-acetyltransferase 6 (GCN5-related)							25.0	29.0	28.0					3																	50334273		1988	4146	6134	SO:0001819	synonymous_variant	24142							g.chr3:50334273G>A	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.622C>T	3.37:g.50334273G>A						NAT6_ENST00000417393.1_Silent_p.L208L|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000354862.4_Silent_p.L230L|NAT6_ENST00000443094.2_Silent_p.L208L|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_Intron	p.L208L						BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	2	1429	-								Q93014	Silent	SNP	ENST00000443842.1	37	c.622C>T	CCDS56258.1																																																																																				0.647	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191		12	36	0	0	0	1	0	12	36				
COL24A1	255631	broad.mit.edu	37	1	86590599	86590599	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:86590599A>C	ENST00000370571.2	-	3	1786	c.1420T>G	c.(1420-1422)Tat>Gat	p.Y474D	COL24A1_ENST00000436319.1_Missense_Mutation_p.Y474D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	474	Poly-Tyr.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTCATAATAATAATAATCA	0.343																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1420-1422)Tat>Gat		collagen, type XXIV, alpha 1							59.0	56.0	57.0					1																	86590599		1815	4079	5894	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590599A>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1420T>G	1.37:g.86590599A>C	ENSP00000359603:p.Tyr474Asp					COL24A1_ENST00000436319.1_Missense_Mutation_p.Y474D	p.Y474D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1786	-			474			Poly-Tyr.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1420T>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	A	9.413	1.081077	0.20309	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.16324	2.35;2.35	5.56	5.56	0.83823	.	0.222968	0.23072	N	0.052257	T	0.12475	0.0303	L	0.27053	0.805	0.28812	N	0.898191	D;D	0.63046	0.992;0.986	P;P	0.62298	0.9;0.669	T	0.10337	-1.0634	10	0.14252	T	0.57	.	14.9	0.70672	1.0:0.0:0.0:0.0	.	474;474	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	474	ENSP00000359603:Y474D;ENSP00000392531:Y474D	ENSP00000359603:Y474D	Y	-	1	0	COL24A1	86363187	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.241000	0.72369	2.113000	0.64589	0.460000	0.39030	TAT		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		22	20	0	0	0	1	0	22	20				
TNXB	7148	broad.mit.edu	37	6	32036476	32036476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32036476C>T	ENST00000375244.3	-	17	6112	c.5911G>A	c.(5911-5913)Gag>Aag	p.E1971K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1971K			P22105	TENX_HUMAN	tenascin XB	2053	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTTCTCCTCCTCCGGGACT	0.632																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5911-5913)Gag>Aag		tenascin XB							38.0	44.0	42.0					6																	32036476		1983	4142	6125	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036476C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5911G>A	6.37:g.32036476C>T	ENSP00000364393:p.Glu1971Lys					TNXB_ENST00000375247.2_Missense_Mutation_p.E1971K	p.E1971K			P22105	TENX_HUMAN			17	6112	-			2053			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5911G>A		.	.	.	.	.	.	.	.	.	.	C	13.98	2.400240	0.42613	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58940	0.46;0.3	5.36	4.5	0.54988	.	0.488208	0.17604	N	0.168310	T	0.34687	0.0906	L	0.53249	1.67	0.09310	N	1	P	0.44429	0.835	P	0.45794	0.493	T	0.19516	-1.0303	10	0.10902	T	0.67	.	10.0558	0.42244	0.0:0.907:0.0:0.093	.	1971	P22105-3	.	K	1971	ENSP00000364393:E1971K;ENSP00000364396:E1971K	ENSP00000364393:E1971K	E	-	1	0	TNXB	32144454	0.040000	0.19996	0.003000	0.11579	0.168000	0.22595	1.715000	0.37971	1.284000	0.44531	0.655000	0.94253	GAG		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		29	19	0	0	0	1	0	29	19				
IGKV1D-8	28904	broad.mit.edu	37	2	90260085	90260085	+	RNA	SNP	G	G	A	rs186043133	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:90260085G>A	ENST00000471857.1	+	0	369									immunoglobulin kappa variable 1D-8																		CAAAAACCAGGGAAAGCCCCT	0.502													G|||	4	0.000798722	0.003	0.0	5008	,	,		15795	0.0		0.0	False		,,,				2504	0.0					ENST00000471857.1																			0															G		4,3770		0,4,1883	125.0	127.0	127.0			1.8	0.8	2		127	0,8234		0,0,4117	no	intergenic				0,4,6000	AA,AG,GG		0.0,0.106,0.0333			90260085	4,12004	1887	4117	6004			28904							g.chr2:90260085G>A	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260085G>A														0	369	+									RNA	SNP	ENST00000471857.1	37																																																																																						0.502	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		41	73	0	0	0	1	0	41	73				
ZNF366	167465	broad.mit.edu	37	5	71739683	71739683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71739683G>A	ENST00000318442.5	-	5	2625	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	712	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAAAAAGAGGGGCCCCGCCG	0.493																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(2134-2136)cCc>cTc		zinc finger protein 366							64.0	75.0	71.0					5																	71739683		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739683G>A	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.2135C>T	5.37:g.71739683G>A	ENSP00000313158:p.Pro712Leu						p.P712L	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2625	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	712					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.2135C>T	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804418	0.50315	.	.	ENSG00000178175	ENST00000318442	T	0.07800	3.16	5.87	3.98	0.46160	.	0.510472	0.19697	N	0.108130	T	0.05547	0.0146	N	0.24115	0.695	0.40433	D	0.979969	B	0.02656	0.0	B	0.04013	0.001	T	0.28870	-1.0030	10	0.44086	T	0.13	-18.7432	5.5926	0.17309	0.1606:0.0:0.6027:0.2367	.	712	Q8N895	ZN366_HUMAN	L	712	ENSP00000313158:P712L	ENSP00000313158:P712L	P	-	2	0	ZNF366	71775439	0.963000	0.33076	1.000000	0.80357	0.960000	0.62799	2.520000	0.45554	1.616000	0.50265	0.655000	0.94253	CCC		0.493	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			39	86	0	0	0	1	0	39	86				
ASTE1	28990	broad.mit.edu	37	3	130733106	130733106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130733106C>T	ENST00000264992.3	-	6	2276	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000393221.4_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.R637K|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	612					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						GGCATATGACCTTGTGGCATT	0.418																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(1834-1836)aGg>aAg		asteroid homolog 1 (Drosophila)							70.0	71.0	71.0					3																	130733106		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130733106C>T	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.1835G>A	3.37:g.130733106C>T	ENSP00000264992:p.Arg612Lys					ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.R637K|ATP2C1_ENST00000533801.2_Intron	p.R612K	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			6	2276	-			612					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.1835G>A	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	C	1.175	-0.639887	0.03557	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.51	-3.17	0.05202	.	0.544953	0.21078	N	0.080526	T	0.25717	0.0626	L	0.32530	0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24764	-1.0151	9	0.19147	T	0.46	-4.8523	11.7796	0.52006	0.0:0.2378:0.0:0.7622	.	637;612	D6RG30;Q2TB18	.;ASTE1_HUMAN	K	637;612	.	ENSP00000264992:R612K	R	-	2	0	ASTE1	132215796	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.783000	0.04638	-0.407000	0.07576	0.557000	0.71058	AGG		0.418	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		22	34	0	0	0	1	0	22	34				
MYH3	4621	broad.mit.edu	37	17	10558267	10558267	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10558267A>G	ENST00000583535.1	-	3	202	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	MYH3_ENST00000226209.7_Missense_Mutation_p.F39L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	39					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						TCCACCACGAAGCAATACGTC	0.498																																						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.(115-117)Ttc>Ctc		myosin, heavy chain 3, skeletal muscle, embryonic							233.0	217.0	222.0					17																	10558267		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10558267A>G		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.115T>C	17.37:g.10558267A>G	ENSP00000464317:p.Phe39Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.F39L	p.F39L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			3	202	-			39			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.115T>C	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.022851	0.93462	.	.	ENSG00000109063	ENST00000226209	D	0.82081	-1.57	5.38	5.38	0.77491	Myosin, N-terminal, SH3-like (1);	.	.	.	.	D	0.90205	0.6938	M	0.77103	2.36	0.42626	D	0.993365	B	0.22146	0.065	P	0.48114	0.567	D	0.89920	0.4058	9	0.87932	D	0	.	15.5555	0.76189	1.0:0.0:0.0:0.0	.	39	P11055	MYH3_HUMAN	L	39	ENSP00000226209:F39L	ENSP00000226209:F39L	F	-	1	0	MYH3	10498992	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	8.991000	0.93514	2.255000	0.74692	0.533000	0.62120	TTC		0.498	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		68	111	0	0	0	1	0	68	111				
SCN2A	6326	broad.mit.edu	37	2	166210777	166210777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166210777G>A	ENST00000375437.2	+	17	3285	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K|SCN2A_ENST00000357398.3_Missense_Mutation_p.E999K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	999			E -> K (in EIEE11; the disease progresses to West syndrome). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E999K(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGATGATAACGAAATGAATAA	0.388																																						ENST00000357398.3																			1	Substitution - Missense(1)	p.E999K(1)	large_intestine(1)	NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2995-2997)Gaa>Aaa		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						161.0	166.0	165.0					2																	166210777		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166210777G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2995G>A	2.37:g.166210777G>A	ENSP00000364586:p.Glu999Lys					SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E999K	p.E999K			Q99250	SCN2A_HUMAN			17	3285	+			999					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2995G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294606	0.95546	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.69	5.69	0.88448	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.95294	0.8473	M	0.91920	3.255	0.80722	D	1	D;D	0.55800	0.971;0.973	P;P	0.59012	0.567;0.85	D	0.95786	0.8821	10	0.87932	D	0	.	19.8068	0.96534	0.0:0.0:1.0:0.0	.	999;999	Q99250-2;Q99250	.;SCN2A_HUMAN	K	999	ENSP00000364586:E999K;ENSP00000349973:E999K;ENSP00000283256:E999K;ENSP00000364576:E999K	ENSP00000283256:E999K	E	+	1	0	SCN2A	165919023	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.658000	0.90341	0.655000	0.94253	GAA		0.388	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		85	139	0	0	0	1	0	85	139				
IGHD	3495	broad.mit.edu	37	14	106311167	106311167	+	RNA	SNP	G	G	A	rs529182024		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106311167G>A	ENST00000390556.2	-	0	395							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCTGTGTTACGGGTGGTGGCT	0.617													T|||	1	0.000199681	0.0	0.0014	5008	,	,		10392	0.0		0.0	False		,,,				2504	0.0					ENST00000390556.2																			0																				68.0	78.0	74.0					14																	106311167		2107	4208	6315			3495							g.chr14:106311167G>A	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311167G>A														0	395	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.617	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		2	2	0	0	0	1	0	2	2				
HBP1	26959	broad.mit.edu	37	7	106826888	106826888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106826888C>G	ENST00000222574.4	+	5	809	c.623C>G	c.(622-624)cCt>cGt	p.P208R	HBP1_ENST00000468410.1_Missense_Mutation_p.P208R|HBP1_ENST00000485846.1_Missense_Mutation_p.P208R	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	208	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AATTCCTGGCCTTCAACTGTC	0.388																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(622-624)cCt>cGt		HMG-box transcription factor 1							188.0	177.0	181.0					7																	106826888		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826888C>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.623C>G	7.37:g.106826888C>G	ENSP00000222574:p.Pro208Arg					HBP1_ENST00000468410.1_Missense_Mutation_p.P208R|HBP1_ENST00000485846.1_Missense_Mutation_p.P208R	p.P208R	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			5	809	+			208			AXH.		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.623C>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062954	0.93898	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99773	-6.72;-6.72;-6.72	5.87	5.87	0.94306	Ataxin-1/HBP1 module (AXH) (2);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	D	0.98052	1.0388	10	0.87932	D	0	-4.4318	20.206	0.98277	0.0:1.0:0.0:0.0	.	218;208;208	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	R	208;208;208;200	ENSP00000420500:P208R;ENSP00000222574:P208R;ENSP00000418738:P208R	ENSP00000222574:P208R	P	+	2	0	HBP1	106614124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	CCT		0.388	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		61	73	0	0	0	1	0	61	73				
PIWIL2	55124	broad.mit.edu	37	8	22161620	22161620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22161620A>C	ENST00000454009.2	+	11	1777	c.1268A>C	c.(1267-1269)aAc>aCc	p.N423T	PIWIL2_ENST00000356766.6_Missense_Mutation_p.N423T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N423T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	423	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACCCGATATAACAATCGTACC	0.393																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1267-1269)aAc>aCc		piwi-like RNA-mediated gene silencing 2							190.0	156.0	168.0					8																	22161620		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22161620A>C	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1268A>C	8.37:g.22161620A>C	ENSP00000406956:p.Asn423Thr					PIWIL2_ENST00000454009.2_Missense_Mutation_p.N423T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N423T	p.N423T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	11	1416	+			423			PAZ.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1268A>C	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500423	0.85176	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.12672	2.66;2.66;2.66	5.78	5.78	0.91487	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	H	0.94503	3.545	0.80722	D	1	P;D	0.64830	0.918;0.994	P;P	0.61328	0.887;0.884	T	0.61574	-0.7035	10	0.72032	D	0.01	-26.5519	15.3863	0.74703	1.0:0.0:0.0:0.0	.	423;423	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	423	ENSP00000349208:N423T;ENSP00000428267:N423T;ENSP00000406956:N423T	ENSP00000349208:N423T	N	+	2	0	PIWIL2	22217565	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.723000	0.91458	2.333000	0.79357	0.482000	0.46254	AAC		0.393	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			49	73	0	0	0	1	0	49	73				
TMEM55A	55529	broad.mit.edu	37	8	92007925	92007925	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92007925G>A	ENST00000285419.3	-	7	1068	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	252						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CTGTGTTCTGGATAACTGACT	0.403																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(754-756)Cca>Tca		transmembrane protein 55A							117.0	111.0	113.0					8																	92007925		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92007925G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.754C>T	8.37:g.92007925G>A	ENSP00000285419:p.Pro252Ser						p.P252S	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		7	1068	-			252					B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.754C>T	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116450	0.77323	.	.	ENSG00000155099	ENST00000285419	.	.	.	5.36	5.36	0.76844	.	0.099665	0.64402	D	0.000001	T	0.67344	0.2883	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.68659	-0.5350	9	0.54805	T	0.06	-5.9845	19.4348	0.94786	0.0:0.0:1.0:0.0	.	252	Q8N4L2	TM55A_HUMAN	S	252	.	ENSP00000285419:P252S	P	-	1	0	TMEM55A	92077101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.663000	0.90544	0.650000	0.86243	CCA		0.403	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		21	49	0	0	0	1	0	21	49				
CDC42BPG	55561	broad.mit.edu	37	11	64595054	64595054	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64595054C>T	ENST00000342711.5	-	32	4094	c.4095G>A	c.(4093-4095)ctG>ctA	p.L1365L	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CGTAGAGGAACAGGGAGCCCT	0.682																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4093-4095)ctG>ctA		CDC42 binding protein kinase gamma (DMPK-like)							76.0	75.0	75.0					11																	64595054		2200	4297	6497	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595054C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4095G>A	11.37:g.64595054C>T							p.L1365L	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			32	4094	-			1365			CNH.			Silent	SNP	ENST00000342711.5	37	c.4095G>A	CCDS31601.1																																																																																				0.682	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		8	18	0	0	0	1	0	8	18				
ADAM21	8747	broad.mit.edu	37	14	70924496	70924496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70924496G>A	ENST00000603540.1	+	2	538	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ADAM21_ENST00000267499.3_Missense_Mutation_p.D94N|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	94					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CACCTACACAGATGACCGTGC	0.512																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(280-282)Gat>Aat		ADAM metallopeptidase domain 21							90.0	93.0	92.0					14																	70924496		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924496G>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.280G>A	14.37:g.70924496G>A	ENSP00000474385:p.Asp94Asn					ADAM21_ENST00000267499.3_Missense_Mutation_p.D94N|RP11-486O13.4_ENST00000556646.1_lincRNA	p.D94N	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	538	+			94					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.280G>A	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148764	0.21288	.	.	ENSG00000139985	ENST00000267499	T	0.05925	3.37	3.56	3.56	0.40772	Peptidase M12B, propeptide (1);	0.332930	0.20707	U	0.087168	T	0.15392	0.0371	M	0.78344	2.41	0.09310	N	1	B	0.20780	0.048	B	0.38655	0.278	T	0.08973	-1.0696	10	0.72032	D	0.01	.	12.126	0.53917	0.0:0.3178:0.6822:0.0	.	94	Q9UKJ8	ADA21_HUMAN	N	94	ENSP00000267499:D94N	ENSP00000267499:D94N	D	+	1	0	ADAM21	69994249	0.001000	0.12720	0.925000	0.36789	0.061000	0.15899	0.843000	0.27640	1.981000	0.57761	0.563000	0.77884	GAT		0.512	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			8	121	0	0	0	1	0	8	121				
PPP2R2C	5522	broad.mit.edu	37	4	6374335	6374335	+	Silent	SNP	G	G	A	rs201965712		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6374335G>A	ENST00000382599.4	-	5	756	c.540C>T	c.(538-540)tcC>tcT	p.S180S	PPP2R2C_ENST00000335585.5_Silent_p.S180S|PPP2R2C_ENST00000515571.1_Silent_p.S163S|PPP2R2C_ENST00000506140.1_Silent_p.S173S|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Silent_p.S173S			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	180					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CACTGTTGACGGAGATGGAGT	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21555	0.0		0.0	False		,,,				2504	0.0					ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(538-540)tcC>tcT		protein phosphatase 2, regulatory subunit B, gamma							242.0	196.0	211.0					4																	6374335		2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6374335G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.540C>T	4.37:g.6374335G>A						PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.S163S|PPP2R2C_ENST00000507294.1_Silent_p.S173S|PPP2R2C_ENST00000382599.4_Silent_p.S180S|PPP2R2C_ENST00000506140.1_Silent_p.S173S	p.S180S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			5	563	-			180					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.540C>T																																																																																					0.572	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		26	89	0	0	0	1	0	26	89				
OR5M11	219487	broad.mit.edu	37	11	56309824	56309824	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309824G>A	ENST00000528616.2	-	1	933	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTTCATCTCAGGACATTCTTC	0.383																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(910-912)Ctg>Ttg		olfactory receptor, family 5, subfamily M, member 11							66.0	60.0	62.0					11																	56309824		1921	4140	6061	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309824G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.910C>T	11.37:g.56309824G>A							p.L304L	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	933	-			304					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.910C>T	CCDS53629.1																																																																																				0.383	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		11	17	0	0	0	1	0	11	17				
TAF7L	54457	broad.mit.edu	37	X	100547782	100547782	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:100547782C>T	ENST00000372907.3	-	1	263	c.252G>A	c.(250-252)ggG>ggA	p.G84G	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACCTACCTTTCCCTTCCTGGA	0.532																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(250-252)ggG>ggA		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							64.0	64.0	64.0					X																	100547782		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547782C>T	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.252G>A	X.37:g.100547782C>T						TAF7L_ENST00000372905.2_5'UTR	p.G84G	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			1	263	-			84					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.252G>A	CCDS35347.1																																																																																				0.532	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			63	54	0	0	0	1	0	63	54				
CLMN	79789	broad.mit.edu	37	14	95670599	95670599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95670599G>A	ENST00000298912.4	-	9	1200	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	363					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R363C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCATCCAGGCGGAATTCCTTC	0.542																																						ENST00000298912.4																			1	Substitution - Missense(1)	p.R363C(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(1087-1089)Cgc>Tgc		calmin (calponin-like, transmembrane)							145.0	148.0	147.0					14																	95670599		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670599G>A	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1087C>T	14.37:g.95670599G>A	ENSP00000298912:p.Arg363Cys						p.R363C	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1200	-			363					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1087C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632617	0.29068	.	.	ENSG00000165959	ENST00000298912	D	0.92249	-3.0	5.41	-5.36	0.02689	.	2.078530	0.02088	N	0.052948	T	0.75117	0.3806	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.68209	-0.5469	10	0.38643	T	0.18	.	4.48	0.11762	0.2587:0.0:0.3663:0.375	.	363	Q96JQ2	CLMN_HUMAN	C	363	ENSP00000298912:R363C	ENSP00000298912:R363C	R	-	1	0	CLMN	94740352	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.813000	0.04491	-0.575000	0.05982	-0.302000	0.09304	CGC		0.542	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			42	78	0	0	0	1	0	42	78				
ACCSL	390110	broad.mit.edu	37	11	44073226	44073226	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44073226C>T	ENST00000378832.1	+	5	785	c.729C>T	c.(727-729)tgC>tgT	p.C243C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	243					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ATGGCTGCTGCTCTGTCTTCT	0.502																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(727-729)tgC>tgT		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							310.0	303.0	305.0					11																	44073226		2107	4216	6323	SO:0001819	synonymous_variant	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44073226C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.729C>T	11.37:g.44073226C>T							p.C243C	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			5	785	+			243						Silent	SNP	ENST00000378832.1	37	c.729C>T	CCDS41636.1																																																																																				0.502	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		71	125	0	0	0	1	0	71	125				
ZNF660	285349	broad.mit.edu	37	3	44636095	44636095	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44636095A>T	ENST00000322734.2	+	3	743	c.410A>T	c.(409-411)aAa>aTa	p.K137I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TATGAATGTAAAGAGTGTGGG	0.458																																						ENST00000322734.2																			0				large_intestine(2)|lung(4)	6						c.(409-411)aAa>aTa		zinc finger protein 660							70.0	77.0	75.0					3																	44636095		2203	4300	6503	SO:0001583	missense	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44636095A>T	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.410A>T	3.37:g.44636095A>T	ENSP00000324605:p.Lys137Ile					RP11-944L7.4_ENST00000457331.1_RNA	p.K137I	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	743	+			137					Q7Z331|Q8N9M8	Missense_Mutation	SNP	ENST00000322734.2	37	c.410A>T	CCDS2716.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893259	0.52121	.	.	ENSG00000144792	ENST00000322734	T	0.08634	3.07	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11410	0.0278	L	0.48174	1.505	0.80722	D	1	P	0.40731	0.728	P	0.46144	0.505	T	0.07790	-1.0754	8	.	.	.	.	9.0823	0.36558	0.8149:0.1851:0.0:0.0	.	137	Q6AZW8	ZN660_HUMAN	I	137	ENSP00000324605:K137I	.	K	+	2	0	ZNF660	44611099	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.100000	0.10990	1.879000	0.54435	0.528000	0.53228	AAA		0.458	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		31	55	0	0	0	1	0	31	55				
UNC5A	90249	broad.mit.edu	37	5	176304608	176304608	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176304608C>T	ENST00000329542.4	+	10	1813	c.1539C>T	c.(1537-1539)acC>acT	p.T513T	UNC5A_ENST00000261961.3_Silent_p.T473T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	513	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGCTCACCCGGCCAGTCA	0.637																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1537-1539)acC>acT		unc-5 homolog A (C. elegans)							55.0	44.0	48.0					5																	176304608		2203	4298	6501	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304608C>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1539C>T	5.37:g.176304608C>T						UNC5A_ENST00000261961.3_Silent_p.T473T	p.T513T	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1813	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	513			ZU5.		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1539C>T	CCDS34299.1																																																																																				0.637	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		15	37	0	0	0	1	0	15	37				
DNMT3A	1788	broad.mit.edu	37	2	25470969	25470969	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25470969G>A	ENST00000264709.3	-	7	1129	c.792C>T	c.(790-792)ccC>ccT	p.P264P	DNMT3A_ENST00000321117.5_Silent_p.P264P|DNMT3A_ENST00000402667.1_Silent_p.P41P|DNMT3A_ENST00000380746.4_Silent_p.P75P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	264	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGACCCCACGGGCTCAGGCG	0.657			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(790-792)ccC>ccT		DNA (cytosine-5-)-methyltransferase 3 alpha							59.0	60.0	60.0					2																	25470969		2203	4300	6503	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470969G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.792C>T	2.37:g.25470969G>A						DNMT3A_ENST00000321117.5_Silent_p.P264P|DNMT3A_ENST00000380746.4_Silent_p.P75P|DNMT3A_ENST00000402667.1_Silent_p.P41P	p.P264P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			7	1129	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		264			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.792C>T	CCDS33157.1																																																																																				0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		39	45	0	0	0	1	0	39	45				
C5	727	broad.mit.edu	37	9	123797116	123797116	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:123797116G>A	ENST00000223642.1	-	5	578	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	183					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAGGAAAAGAGATAATTCCAA	0.353																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(547-549)atC>atT		complement component 5	Eculizumab(DB01257)						65.0	63.0	63.0					9																	123797116		2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123797116G>A	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.549C>T	9.37:g.123797116G>A							p.I183I	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	5	578	-			183					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.549C>T	CCDS6826.1																																																																																				0.353	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		14	6	0	0	0	1	0	14	6				
BMP3	651	broad.mit.edu	37	4	81967228	81967228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967228G>A	ENST00000282701.2	+	2	973	c.653G>A	c.(652-654)gGa>gAa	p.G218E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTCCTCATAGGATTTAACATT	0.438																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(652-654)gGa>gAa		bone morphogenetic protein 3							115.0	124.0	121.0					4																	81967228		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967228G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.653G>A	4.37:g.81967228G>A	ENSP00000282701:p.Gly218Glu						p.G218E	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	973	+			218					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.653G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265202	0.40095	.	.	ENSG00000152785	ENST00000282701	T	0.73152	-0.72	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.80884	0.4709	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.79408	-0.1816	10	0.44086	T	0.13	.	18.6092	0.91277	0.0:0.0:1.0:0.0	.	218	P12645	BMP3_HUMAN	E	218	ENSP00000282701:G218E	ENSP00000282701:G218E	G	+	2	0	BMP3	82186252	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.079000	0.76829	2.806000	0.96561	0.655000	0.94253	GGA		0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			73	51	0	0	0	1	0	73	51				
YAE1D1	57002	broad.mit.edu	37	7	39606101	39606101	+	Silent	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:39606101C>G	ENST00000223273.2	+	1	127	c.84C>G	c.(82-84)ctC>ctG	p.L28L	YAE1D1_ENST00000432096.2_Silent_p.L28L|AC011290.4_ENST00000439751.2_RNA|YAE1D1_ENST00000448268.1_Silent_p.L28L	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	28																	ACGAGTCGCTCCTGGCGCAGC	0.587																																						ENST00000432096.2																			0											c.(82-84)ctC>ctG		Yae1 domain containing 1							90.0	79.0	83.0					7																	39606101		2203	4300	6503	SO:0001819	synonymous_variant	57002							g.chr7:39606101C>G	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.84C>G	7.37:g.39606101C>G						YAE1D1_ENST00000448268.1_Silent_p.L28L|YAE1D1_ENST00000223273.2_Silent_p.L28L	p.L28L			Q9NRH1	CG036_HUMAN			1	97	+			28					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	37	c.84C>G	CCDS5459.1																																																																																				0.587	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		33	29	0	0	0	1	0	33	29				
MYO18B	84700	broad.mit.edu	37	22	26423575	26423575	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26423575G>A	ENST00000407587.2	+	43	7807	c.7638G>A	c.(7636-7638)cgG>cgA	p.R2546R	MYO18B_ENST00000536101.1_Silent_p.R2545R|MYO18B_ENST00000335473.7_Silent_p.R2545R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2545						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCCCGAGCGGAGAGAGCCAG	0.562																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7633-7635)cgG>cgA		myosin XVIIIB							45.0	46.0	45.0					22																	26423575		1950	4125	6075	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423575G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7638G>A	22.37:g.26423575G>A						MYO18B_ENST00000407587.2_Silent_p.R2546R|MYO18B_ENST00000536101.1_Silent_p.R2545R	p.R2545R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7885	+			2545					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7635G>A		.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033074	0.02029	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.17	2.86	0.33363	.	.	.	.	.	T	0.28001	0.0690	.	.	.	0.20196	N	0.99992	.	.	.	.	.	.	T	0.16837	-1.0389	4	.	.	.	.	6.0131	0.19588	0.1475:0.643:0.1278:0.0817	.	.	.	.	E	495	.	.	G	+	2	0	MYO18B	24753575	0.016000	0.18221	0.599000	0.28851	0.020000	0.10135	0.308000	0.19314	1.181000	0.42912	-0.228000	0.12330	GGA		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	21	0	0	0	1	0	10	21				
CARD11	84433	broad.mit.edu	37	7	2951812	2951812	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2951812G>A	ENST00000396946.4	-	23	3541	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1046	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCACCTTGGCGGCCACAGCTT	0.602			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(3136-3138)gcC>gcT		caspase recruitment domain family, member 11							143.0	116.0	125.0					7																	2951812		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2951812G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3138C>T	7.37:g.2951812G>A							p.A1046A	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	23	3541	-		Ovarian(82;0.0115)	1046			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.3138C>T	CCDS5336.2																																																																																				0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		23	47	0	0	0	1	0	23	47				
SLC9A5	6553	broad.mit.edu	37	16	67292323	67292323	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67292323C>T	ENST00000299798.11	+	10	1664	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	533					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGCTTAACATCCGGGATGCCA	0.582																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1597-1599)atC>atT		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							64.0	70.0	68.0					16																	67292323		2089	4224	6313	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67292323C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1599C>T	16.37:g.67292323C>T							p.I533I	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	10	1664	+		Ovarian(137;0.0563)	533					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.1599C>T	CCDS42178.1																																																																																				0.582	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			18	33	0	0	0	1	0	18	33				
RAD54L2	23132	broad.mit.edu	37	3	51696445	51696445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51696445C>T	ENST00000409535.2	+	22	3538	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	RAD54L2_ENST00000296477.3_Missense_Mutation_p.S832F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1138						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCCCAGGTTCCCAGGGACCT	0.542																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(3412-3414)tCc>tTc		RAD54-like 2 (S. cerevisiae)							52.0	55.0	54.0					3																	51696445		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51696445C>T	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3413C>T	3.37:g.51696445C>T	ENSP00000386520:p.Ser1138Phe					RAD54L2_ENST00000296477.3_Missense_Mutation_p.S832F	p.S1138F	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	22	3538	+			1138					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.3413C>T	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812848	0.32053	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93859	-3.2;-3.3	5.48	5.48	0.80851	.	0.426339	0.25698	N	0.028893	D	0.88683	0.6503	N	0.19112	0.55	0.33269	D	0.560759	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	D	0.86972	0.2098	10	0.45353	T	0.12	-14.9198	18.3306	0.90267	0.0:1.0:0.0:0.0	.	1138;727	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	F	1138;832	ENSP00000386520:S1138F;ENSP00000296477:S832F	ENSP00000296477:S832F	S	+	2	0	RAD54L2	51671485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.684000	0.46951	2.563000	0.86464	0.563000	0.77884	TCC		0.542	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		25	43	0	0	0	1	0	25	43				
TCP11L2	255394	broad.mit.edu	37	12	106734726	106734726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:106734726G>A	ENST00000299045.3	+	9	1439	c.1265G>A	c.(1264-1266)gGt>gAt	p.G422D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	422										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AATCTTATAGGTCAATTTTCA	0.373																																						ENST00000299045.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						c.(1264-1266)gGt>gAt		t-complex 11, testis-specific-like 2							181.0	176.0	178.0					12																	106734726		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106734726G>A	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1265G>A	12.37:g.106734726G>A	ENSP00000299045:p.Gly422Asp						p.G422D	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN			9	1439	+			422					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1265G>A	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280184	0.80692	.	.	ENSG00000166046	ENST00000299045	T	0.12774	2.65	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12116	-1.0560	10	0.36615	T	0.2	-0.0368	19.0691	0.93125	0.0:0.0:1.0:0.0	.	422	Q8N4U5	T11L2_HUMAN	D	422	ENSP00000299045:G422D	ENSP00000299045:G422D	G	+	2	0	TCP11L2	105258856	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	7.159000	0.77483	2.490000	0.84030	0.557000	0.71058	GGT		0.373	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		90	76	0	0	0	1	0	90	76				
SCMH1	22955	broad.mit.edu	37	1	41540981	41540981	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:41540981C>T	ENST00000326197.7	-	8	1157	c.858G>A	c.(856-858)aaG>aaA	p.K286K	SCMH1_ENST00000372596.1_Silent_p.K225K|SCMH1_ENST00000402904.2_Silent_p.K286K|SCMH1_ENST00000456518.2_Silent_p.K128K|SCMH1_ENST00000372597.1_Silent_p.K239K|SCMH1_ENST00000337495.5_Silent_p.K296K|SCMH1_ENST00000397171.2_Silent_p.K225K|SCMH1_ENST00000361191.5_Silent_p.K225K|SCMH1_ENST00000397174.2_Silent_p.K266K|SCMH1_ENST00000361705.3_Silent_p.K239K|SCMH1_ENST00000372595.1_Silent_p.K225K					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAATTAGGGTCTTGGGTGTCC	0.532																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(856-858)aaG>aaA		sex comb on midleg homolog 1 (Drosophila)							152.0	142.0	146.0					1																	41540981		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41540981C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.858G>A	1.37:g.41540981C>T						SCMH1_ENST00000397174.2_Silent_p.K266K|SCMH1_ENST00000397171.2_Silent_p.K225K|SCMH1_ENST00000372595.1_Silent_p.K225K|SCMH1_ENST00000361191.5_Silent_p.K225K|SCMH1_ENST00000372596.1_Silent_p.K225K|SCMH1_ENST00000361705.3_Silent_p.K239K|SCMH1_ENST00000337495.5_Silent_p.K296K|SCMH1_ENST00000372597.1_Silent_p.K239K|SCMH1_ENST00000326197.7_Silent_p.K286K|SCMH1_ENST00000456518.2_Silent_p.K128K	p.K286K	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			9	1226	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	286						Silent	SNP	ENST00000326197.7	37	c.858G>A	CCDS30688.1																																																																																				0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			64	54	0	0	0	1	0	64	54				
RYR2	6262	broad.mit.edu	37	1	237890480	237890480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237890480C>T	ENST00000366574.2	+	76	11136	c.10819C>T	c.(10819-10821)Ccc>Tcc	p.P3607S	RYR2_ENST00000542537.1_Missense_Mutation_p.P3591S|RYR2_ENST00000360064.6_Missense_Mutation_p.P3605S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3607	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGGATGGCCCCCTTATATAA	0.398																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(10819-10821)Ccc>Tcc		ryanodine receptor 2 (cardiac)							81.0	78.0	79.0					1																	237890480		1839	4070	5909	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237890480C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10819C>T	1.37:g.237890480C>T	ENSP00000355533:p.Pro3607Ser					RYR2_ENST00000360064.6_Missense_Mutation_p.P3605S|RYR2_ENST00000542537.1_Missense_Mutation_p.P3591S	p.P3607S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		76	11136	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3607					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10819C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903486	0.72754	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97041	-4.22;-4.22;-4.21	4.98	4.98	0.66077	.	0.000000	0.56097	U	0.000023	D	0.97742	0.9259	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96959	0.9700	10	0.26408	T	0.33	-12.9917	18.6478	0.91418	0.0:1.0:0.0:0.0	.	562;3607	B4DGV4;Q92736	.;RYR2_HUMAN	S	3607;3605;3591;562	ENSP00000355533:P3607S;ENSP00000353174:P3605S;ENSP00000443798:P3591S	ENSP00000353174:P3605S	P	+	1	0	RYR2	235957103	1.000000	0.71417	0.383000	0.26132	0.968000	0.65278	7.776000	0.85560	2.475000	0.83589	0.650000	0.86243	CCC		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	19	0	0	0	1	0	19	19				
BCAT1	586	broad.mit.edu	37	12	24995059	24995059	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995059C>T	ENST00000261192.7	-	7	1300	c.774G>A	c.(772-774)gtG>gtA	p.V258V	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.V270V|BCAT1_ENST00000342945.5_Silent_p.V197V|BCAT1_ENST00000539780.1_Silent_p.V221V|BCAT1_ENST00000538118.1_Silent_p.V257V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	258					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TCATAGTTCCCACTTCAGTGA	0.428																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(772-774)gtG>gtA		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						96.0	94.0	95.0					12																	24995059		1906	4133	6039	SO:0001819	synonymous_variant	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995059C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.774G>A	12.37:g.24995059C>T						BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.V270V|BCAT1_ENST00000538118.1_Silent_p.V257V|BCAT1_ENST00000539780.1_Silent_p.V221V|BCAT1_ENST00000342945.5_Silent_p.V197V	p.V258V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1300	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		258					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Silent	SNP	ENST00000261192.7	37	c.774G>A	CCDS44845.1																																																																																				0.428	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		5	24	0	0	0	1	0	5	24				
PRR16	51334	broad.mit.edu	37	5	120021865	120021865	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:120021865C>T	ENST00000407149.2	+	2	585	c.376C>T	c.(376-378)Cct>Tct	p.P126S	PRR16_ENST00000446965.1_Missense_Mutation_p.P56S|PRR16_ENST00000379551.2_Missense_Mutation_p.P103S|PRR16_ENST00000505123.1_Missense_Mutation_p.P56S			Q569H4	LARGN_HUMAN	proline rich 16	126	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(307-309)Cct>Tct		proline rich 16							126.0	109.0	115.0					5																	120021865		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021865C>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.376C>T	5.37:g.120021865C>T	ENSP00000385118:p.Pro126Ser					PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S	p.P103S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	664	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	126			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.307C>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373580	0.82573	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58317	-0.7657	9	.	.	.	-0.4581	18.6986	0.91611	0.0:1.0:0.0:0.0	.	126;103	Q569H4;Q569H4-3	PRR16_HUMAN;.	S	126;103;56;56;56	ENSP00000385118:P126S;ENSP00000368869:P103S;ENSP00000421256:P56S;ENSP00000423446:P56S;ENSP00000405491:P56S	.	P	+	1	0	PRR16	120049764	1.000000	0.71417	0.578000	0.28575	0.995000	0.86356	7.421000	0.80204	2.709000	0.92574	0.644000	0.83932	CCT		0.512	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		36	49	0	0	0	1	0	36	49				
CREBRF	153222	broad.mit.edu	37	5	172517687	172517687	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:172517687C>T	ENST00000296953.2	+	4	824	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	CREBRF_ENST00000520420.1_Missense_Mutation_p.P169S|CREBRF_ENST00000540014.1_Missense_Mutation_p.P169S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P169S	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	169					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAATCCCTTACCCTCTTCATT	0.443																																						ENST00000540014.1																			0											c.(505-507)Ccc>Tcc		CREB3 regulatory factor							66.0	62.0	63.0					5																	172517687		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172517687C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.505C>T	5.37:g.172517687C>T	ENSP00000296953:p.Pro169Ser					CREBRF_ENST00000296953.2_Missense_Mutation_p.P169S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P169S|CREBRF_ENST00000520420.1_Missense_Mutation_p.P169S	p.P169S			Q8IUR6	CE041_HUMAN			4	824	+			169					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.505C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777954	0.31502	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	6.08	2.49	0.30216	.	0.360816	0.32343	N	0.006225	T	0.41373	0.1156	N	0.14661	0.345	0.38092	D	0.936998	B;B	0.25904	0.137;0.001	B;B	0.26969	0.075;0.006	T	0.27191	-1.0081	10	0.24483	T	0.36	.	3.9252	0.09261	0.3579:0.4535:0.1066:0.082	.	169;169	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	S	169	ENSP00000431107:P169S;ENSP00000296953:P169S;ENSP00000440075:P169S;ENSP00000428290:P169S	ENSP00000296953:P169S	P	+	1	0	C5orf41	172450293	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	2.926000	0.48892	1.572000	0.49736	0.655000	0.94253	CCC		0.443	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		14	34	0	0	0	1	0	14	34				
NDUFB2	4708	broad.mit.edu	37	7	140402710	140402710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140402710C>T	ENST00000476279.1	+	2	217	c.143C>T	c.(142-144)cCc>cTc	p.P48L	NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P21L|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P48L|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P48L|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P36L|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P38L|NDUFB2_ENST00000460088.1_5'UTR			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	48					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					AGACAGTTCCCCCAGCTGACC	0.532																																						ENST00000476279.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10						c.(142-144)cCc>cTc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	NADH(DB00157)						181.0	172.0	175.0					7																	140402710		2203	4300	6503	SO:0001583	missense	4708				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:140402710C>T	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.143C>T	7.37:g.140402710C>T	ENSP00000419087:p.Pro48Leu					NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P38L|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P48L|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P48L|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P21L|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P36L|NDUFB2_ENST00000460088.1_5'UTR	p.P48L			O95178	NDUB2_HUMAN			2	217	+	Melanoma(164;0.00956)		48					Q6FGI6	Missense_Mutation	SNP	ENST00000476279.1	37	c.143C>T	CCDS5862.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607795	0.96626	.	.	ENSG00000090266	ENST00000476279;ENST00000247866;ENST00000465506;ENST00000204307;ENST00000464566;ENST00000471136;ENST00000475276	.	.	.	6.06	6.06	0.98353	.	0.047936	0.85682	D	0.000000	D	0.85410	0.5690	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86448	0.1771	9	0.87932	D	0	-7.2347	20.2159	0.98296	0.0:1.0:0.0:0.0	.	48	O95178	NDUB2_HUMAN	L	48;48;48;38;47;36;21	.	ENSP00000204307:P38L	P	+	2	0	NDUFB2	140049179	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.052000	0.64263	2.882000	0.98803	0.655000	0.94253	CCC		0.532	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348784.1	NM_004546		84	92	0	0	0	1	0	84	92				
RBM47	54502	broad.mit.edu	37	4	40438596	40438596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:40438596G>A	ENST00000381793.2	-	4	1588	c.1192C>T	c.(1192-1194)Ctc>Ttc	p.L398F	RBM47_ENST00000514014.1_Missense_Mutation_p.L360F|RBM47_ENST00000295971.7_Missense_Mutation_p.L398F|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000381795.6_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	398					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TATCCCCCGAGGTAGGAACCC	0.493																																						ENST00000381793.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1192-1194)Ctc>Ttc		RNA binding motif protein 47							160.0	158.0	158.0					4																	40438596		1888	4106	5994	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40438596G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1192C>T	4.37:g.40438596G>A	ENSP00000371212:p.Leu398Phe					RBM47_ENST00000381795.6_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L398F|RBM47_ENST00000514014.1_Missense_Mutation_p.L360F|RBM47_ENST00000319592.4_Intron	p.L398F			A0AV96	RBM47_HUMAN			4	1588	-			398					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1192C>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783485	0.49891	.	.	ENSG00000163694	ENST00000381793;ENST00000295971;ENST00000514014	T;T;T	0.18960	2.18;2.18;2.19	5.34	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.50333	1.59	0.80722	D	1	B	0.15473	0.013	B	0.23852	0.049	T	0.03335	-1.1047	10	0.33940	T	0.23	-19.8411	9.8023	0.40773	0.0733:0.0:0.7865:0.1402	.	398	A0AV96	RBM47_HUMAN	F	398;398;360	ENSP00000371212:L398F;ENSP00000295971:L398F;ENSP00000423243:L360F	ENSP00000295971:L398F	L	-	1	0	RBM47	40133353	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.338000	0.65947	2.500000	0.84329	0.491000	0.48974	CTC		0.493	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		60	64	0	0	0	1	0	60	64				
C19orf57	79173	broad.mit.edu	37	19	14000492	14000492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000492C>T	ENST00000586783.1	-	5	1176	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	C19orf57_ENST00000454313.1_Missense_Mutation_p.E393K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E393K			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	393					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTGTGGTTTCCCCAGTGAGC	0.672																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1177-1179)Gaa>Aaa		chromosome 19 open reading frame 57							27.0	24.0	25.0					19																	14000492		2200	4296	6496	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000492C>T	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1177G>A	19.37:g.14000492C>T	ENSP00000465822:p.Glu393Lys					C19orf57_ENST00000586783.1_Missense_Mutation_p.E393K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E393K	p.E393K			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1235	-			393					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1177G>A		.	.	.	.	.	.	.	.	.	.	C	12.84	2.059460	0.36373	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.44881	0.91;0.91	4.51	2.4	0.29515	.	0.831616	0.10087	N	0.717653	T	0.30510	0.0767	L	0.32530	0.975	0.09310	N	1	B;B	0.25563	0.033;0.129	B;B	0.23419	0.046;0.046	T	0.22591	-1.0212	10	0.51188	T	0.08	-6.2312	6.5662	0.22513	0.0:0.7854:0.0:0.2146	.	393;393	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	393	ENSP00000404382:E393K;ENSP00000254336:E393K	ENSP00000254336:E393K	E	-	1	0	C19orf57	13861492	0.000000	0.05858	0.012000	0.15200	0.005000	0.04900	0.343000	0.19944	1.257000	0.44085	-0.126000	0.14955	GAA		0.672	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		13	19	0	0	0	1	0	13	19				
ZNF75D	7626	broad.mit.edu	37	X	134421321	134421321	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:134421321C>T	ENST00000370766.3	-	7	3990	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G	ZNF75D_ENST00000370764.1_Silent_p.G332G|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	427					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TAAAGCTTTTCCCACACCATG	0.373																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1279-1281)ggG>ggA		zinc finger protein 75D							162.0	139.0	147.0					X																	134421321		2203	4300	6503	SO:0001819	synonymous_variant	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421321C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1281G>A	X.37:g.134421321C>T						ZNF75D_ENST00000370764.1_Silent_p.G332G|ZNF75D_ENST00000494295.1_Intron	p.G427G	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN			7	3990	-			427					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Silent	SNP	ENST00000370766.3	37	c.1281G>A	CCDS14648.1																																																																																				0.373	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		77	109	0	0	0	1	0	77	109				
CLEC5A	23601	broad.mit.edu	37	7	141635614	141635614	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141635614C>T	ENST00000546910.1	-	5	541	c.345G>A	c.(343-345)ctG>ctA	p.L115L	CLEC5A_ENST00000438351.1_Splice_Site_p.L92L|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Splice_Site_p.L92L|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	115	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTGTTCTCACCAGTTTCTCTG	0.478																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.e5+1		C-type lectin domain family 5, member A							164.0	136.0	146.0					7																	141635614		2203	4300	6503	SO:0001630	splice_region_variant	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141635614C>T		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.345+1G>A	7.37:g.141635614C>T						CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Splice_Site_p.L92_splice|CLEC5A_ENST00000551012.2_Splice_Site_p.L92_splice	p.L115_splice	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			5	541	-	Melanoma(164;0.0171)		115			C-type lectin.		Q52M11|Q9UKQ0	Splice_Site	SNP	ENST00000546910.1	37	c.345_splice	CCDS5870.1																																																																																				0.478	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252	Silent	53	55	0	0	0	1	0	53	55				
SORCS3	22986	broad.mit.edu	37	10	106937929	106937929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:106937929G>A	ENST00000369701.3	+	14	2234	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	669					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCACATCATGACGTGAGTAC	0.493																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2005-2007)atG>atA		sortilin-related VPS10 domain containing receptor 3							172.0	144.0	154.0					10																	106937929		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106937929G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2007G>A	10.37:g.106937929G>A	ENSP00000358715:p.Met669Ile					SORCS3_ENST00000369699.4_Intron	p.M669I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	14	2234	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	669					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2007G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123801	0.56613	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.28069	1.63;1.63	5.65	5.65	0.86999	VPS10 (1);	0.088949	0.85682	D	0.000000	T	0.29652	0.0740	L	0.37561	1.115	0.58432	D	0.999999	P	0.34780	0.468	B	0.37091	0.241	T	0.02464	-1.1155	9	.	.	.	.	18.4894	0.90842	0.0:0.0:1.0:0.0	.	669	Q9UPU3	SORC3_HUMAN	I	669;114	ENSP00000358715:M669I;ENSP00000376876:M114I	.	M	+	3	0	SORCS3	106927919	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.170000	0.77587	2.645000	0.89757	0.585000	0.79938	ATG		0.493	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		20	26	0	0	0	1	0	20	26				
IL1RL1	9173	broad.mit.edu	37	2	102959584	102959584	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:102959584A>C	ENST00000233954.1	+	7	1042	c.771A>C	c.(769-771)aaA>aaC	p.K257N	IL1RL1_ENST00000311734.2_Missense_Mutation_p.K257N|IL1RL1_ENST00000409584.1_Missense_Mutation_p.K243N|IL1RL1_ENST00000404917.2_Missense_Mutation_p.K140N	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	257	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATGGAACAAAAATTACAGACT	0.423																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(769-771)aaA>aaC		interleukin 1 receptor-like 1							93.0	98.0	96.0					2																	102959584		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959584A>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.771A>C	2.37:g.102959584A>C	ENSP00000233954:p.Lys257Asn					IL1RL1_ENST00000409584.1_Missense_Mutation_p.K243N|IL1RL1_ENST00000233954.1_Missense_Mutation_p.K257N|IL1RL1_ENST00000404917.2_Missense_Mutation_p.K140N	p.K257N			Q01638	ILRL1_HUMAN			7	1110	+			257			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.771A>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	A	3.121	-0.180576	0.06380	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.19	-10.4	0.00318	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.423080	0.00982	N	0.003386	T	0.06142	0.0159	N	0.17082	0.46	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.002	B;B;B	0.11329	0.006;0.001;0.002	T	0.20806	-1.0264	10	0.13853	T	0.58	.	4.2989	0.10915	0.0982:0.37:0.1206:0.4112	.	140;257;257	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	N	257;140;257;243	ENSP00000233954:K257N;ENSP00000384822:K140N;ENSP00000310371:K257N;ENSP00000386618:K243N	ENSP00000233954:K257N	K	+	3	2	IL1RL1	102326016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.623000	0.00207	-3.999000	0.00083	-0.414000	0.06135	AAA		0.423	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		41	68	0	0	0	1	0	41	68				
TTN	7273	broad.mit.edu	37	2	179544117	179544117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179544117C>T	ENST00000591111.1	-	140	32964	c.32740G>A	c.(32740-32742)Gag>Aag	p.E10914K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9987K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11231K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11687	Glu-rich.|Pro-rich.				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)			GGAACTTTCTCCTCTGGCTTC	0.378																																						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.(33691-33693)Gag>Aag		titin							111.0	103.0	105.0					2																	179544117		1831	4091	5922	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544117C>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.32740G>A	2.37:g.179544117C>T	ENSP00000465570:p.Glu10914Lys					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9987K|TTN_ENST00000591111.1_Missense_Mutation_p.E10914K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.E11231K	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)		142	33915	-			10914			Glu-rich.|Pro-rich.		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.33691G>A		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726604	0.48833	.	.	ENSG00000155657	ENST00000342992	T	0.60171	0.21	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57417	0.2052	N	0.10707	0.03	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.65598	-0.6129	9	0.87932	D	0	.	14.0315	0.64617	0.1506:0.8494:0.0:0.0	.	10914	Q8WZ42	TITIN_HUMAN	K	9987	ENSP00000343764:E9987K	ENSP00000343764:E9987K	E	-	1	0	TTN	179252362	0.906000	0.30813	0.998000	0.56505	0.951000	0.60555	1.634000	0.37123	2.734000	0.93682	0.655000	0.94253	GAG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	43	0	0	0	1	0	23	43				
ZC3H3	23144	broad.mit.edu	37	8	144557717	144557717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144557717C>T	ENST00000262577.5	-	5	1785	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	585					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTTCCCACCCCCGCTGGCAAC	0.612																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1753-1755)gGg>gAg		zinc finger CCCH-type containing 3							26.0	26.0	26.0					8																	144557717		2197	4297	6494	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144557717C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1754G>A	8.37:g.144557717C>T	ENSP00000262577:p.Gly585Glu						p.G585E	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		5	1785	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		585					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1754G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	5.916	0.353069	0.11182	.	.	ENSG00000014164	ENST00000262577	T	0.02656	4.21	3.48	3.48	0.39840	.	0.282399	0.29676	N	0.011485	T	0.03434	0.0099	L	0.60455	1.87	0.09310	N	1	P	0.34462	0.454	B	0.32677	0.15	T	0.36720	-0.9736	10	0.30854	T	0.27	-9.9299	6.9169	0.24365	0.0:0.8536:0.0:0.1464	.	585	Q8IXZ2	ZC3H3_HUMAN	E	585	ENSP00000262577:G585E	ENSP00000262577:G585E	G	-	2	0	ZC3H3	144628860	0.002000	0.14202	0.072000	0.20136	0.012000	0.07955	1.904000	0.39868	1.862000	0.54008	0.655000	0.94253	GGG		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		7	12	0	0	0	1	0	7	12				
EXTL1	2134	broad.mit.edu	37	1	26349152	26349152	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26349152G>A	ENST00000374280.3	+	1	882	c.15G>A	c.(13-15)agG>agA	p.R5R		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	5					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCGTGGAGGAGAAGAAAGT	0.647																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(13-15)agG>agA		exostosin-like glycosyltransferase 1							78.0	82.0	80.0					1																	26349152		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349152G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.15G>A	1.37:g.26349152G>A							p.R5R	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	882	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	5					Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.15G>A	CCDS271.1																																																																																				0.647	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		20	28	0	0	0	1	0	20	28				
TCF7L1	83439	broad.mit.edu	37	2	85536504	85536504	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:85536504C>T	ENST00000282111.3	+	12	1961	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	562					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCCGTCCTTCCCCGCCACGC	0.701																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(1684-1686)ttC>ttT		transcription factor 7-like 1 (T-cell specific, HMG-box)							38.0	36.0	37.0					2																	85536504		2195	4291	6486	SO:0001819	synonymous_variant	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85536504C>T	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1686C>T	2.37:g.85536504C>T							p.F562F	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			12	1961	+			562					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000282111.3	37	c.1686C>T	CCDS1971.1																																																																																				0.701	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		25	40	0	0	0	1	0	25	40				
NOL11	25926	broad.mit.edu	37	17	65733747	65733747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:65733747C>T	ENST00000253247.4	+	12	1457	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	NOL11_ENST00000535137.1_Missense_Mutation_p.P266S	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	448					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAAAGCAGAACCATCATTTTA	0.438																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1342-1344)Cca>Tca		nucleolar protein 11							150.0	136.0	141.0					17																	65733747		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65733747C>T	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1342C>T	17.37:g.65733747C>T	ENSP00000253247:p.Pro448Ser					NOL11_ENST00000535137.1_Missense_Mutation_p.P266S	p.P448S	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	1457	+	all_cancers(12;1.54e-10)		448					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.1342C>T	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	C	4.685	0.127354	0.08981	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.55760	0.5	4.87	3.88	0.44766	.	0.119358	0.64402	D	0.000019	T	0.61664	0.2365	M	0.71581	2.175	0.44373	D	0.997277	D	0.61697	0.99	P	0.51170	0.661	T	0.67745	-0.5591	10	0.62326	D	0.03	-6.3987	14.4225	0.67193	0.0:0.8511:0.1489:0.0	.	448	Q9H8H0	NOL11_HUMAN	S	448;266	ENSP00000253247:P448S	ENSP00000253247:P448S	P	+	1	0	NOL11	63164209	0.948000	0.32251	0.099000	0.21106	0.031000	0.12232	3.449000	0.52950	1.142000	0.42291	0.655000	0.94253	CCA		0.438	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		35	110	0	0	0	1	0	35	110				
TLR7	51284	broad.mit.edu	37	X	12906091	12906091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12906091G>A	ENST00000380659.3	+	3	2603	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	822					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGCACACAAGGGCCAAAGTGT	0.483																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(2464-2466)Ggc>Agc		toll-like receptor 7	Imiquimod(DB00724)						170.0	137.0	148.0					X																	12906091		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906091G>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2464G>A	X.37:g.12906091G>A	ENSP00000370034:p.Gly822Ser						p.G822S	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	2603	+			822					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2464G>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074607	0.76415	.	.	ENSG00000196664	ENST00000380659	T	0.44083	0.93	5.82	5.82	0.92795	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.91140	3.18	0.58432	D	0.999997	D	0.71674	0.998	P	0.61003	0.882	T	0.77566	-0.2540	10	0.62326	D	0.03	.	19.1027	0.93281	0.0:0.0:1.0:0.0	.	822	Q9NYK1	TLR7_HUMAN	S	822	ENSP00000370034:G822S	ENSP00000370034:G822S	G	+	1	0	TLR7	12816012	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.461000	0.83175	0.529000	0.55759	GGC		0.483	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		60	107	0	0	0	1	0	60	107				
MUC15	143662	broad.mit.edu	37	11	26586799	26586799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:26586799G>A	ENST00000455601.2	-	2	725	c.607C>T	c.(607-609)Cct>Tct	p.P203S	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P230S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.P230S|MUC15_ENST00000529533.1_Missense_Mutation_p.P230S|MUC15_ENST00000527569.1_Missense_Mutation_p.P230S	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	203					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TCTTGATAAGGGGTAAACCCA	0.398																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(688-690)Cct>Tct		mucin 15, cell surface associated							134.0	135.0	135.0					11																	26586799		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586799G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.607C>T	11.37:g.26586799G>A	ENSP00000397339:p.Pro203Ser					ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P230S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P203S|MUC15_ENST00000281268.8_Missense_Mutation_p.P230S|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P230S	p.P230S			Q8N387	MUC15_HUMAN			2	821	-			203					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.688C>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039419	0.35989	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.33216	1.64;1.6;1.42;1.6;1.42	4.24	0.895	0.19247	.	0.636443	0.13963	N	0.350738	T	0.35998	0.0951	L	0.43923	1.385	0.09310	N	1	D;P;D	0.59357	0.985;0.827;0.979	P;B;P	0.52758	0.708;0.342;0.58	T	0.23547	-1.0185	10	0.59425	D	0.04	-10.6558	11.831	0.52295	0.0:0.5783:0.4217:0.0	.	230;203;230	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	S	203;230;230;230;230	ENSP00000397339:P203S;ENSP00000416753:P230S;ENSP00000281268:P230S;ENSP00000431983:P230S;ENSP00000431945:P230S	ENSP00000281268:P230S	P	-	1	0	MUC15	26543375	0.001000	0.12720	0.021000	0.16686	0.051000	0.14879	0.148000	0.16224	0.465000	0.27167	0.650000	0.86243	CCT		0.398	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		29	67	0	0	0	1	0	29	67				
CNKSR1	10256	broad.mit.edu	37	1	26510594	26510594	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26510594G>A	ENST00000374253.5	+	10	948	c.909G>A	c.(907-909)caG>caA	p.Q303Q	CNKSR1_ENST00000531191.1_Silent_p.Q38Q|CNKSR1_ENST00000361530.6_Silent_p.Q296Q	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	303	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGCACCAGAGGAGCCCAT	0.617																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(112-114)caG>caA		connector enhancer of kinase suppressor of Ras 1							85.0	86.0	86.0					1																	26510594		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510594G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.909G>A	1.37:g.26510594G>A						CNKSR1_ENST00000374253.5_Silent_p.Q303Q|CNKSR1_ENST00000361530.6_Silent_p.Q296Q	p.Q38Q			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	9	1121	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	303			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.114G>A		.	.	.	.	.	.	.	.	.	.	g	3.428	-0.116664	0.06838	.	.	ENSG00000142675	ENST00000422547	.	.	.	4.23	0.894	0.19242	.	.	.	.	.	T	0.11922	0.0290	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33854	-0.9852	5	0.02654	T	1	0.8168	5.5568	0.17121	0.2017:0.1631:0.6352:0.0	.	.	.	.	K	272	.	ENSP00000390945:E272K	E	+	1	0	CNKSR1	26383181	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.645000	0.24782	0.462000	0.27095	0.604000	0.83254	GAG		0.617	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		17	51	0	0	0	1	0	17	51				
SNX17	9784	broad.mit.edu	37	2	27596752	27596752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27596752G>A	ENST00000233575.2	+	5	568	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.E91K|SNX17_ENST00000543024.1_5'UTR	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	116	FERM-like.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACAGAGGAAGTGTCCTT	0.537																																						ENST00000233575.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(346-348)Gaa>Aaa		sorting nexin 17							100.0	89.0	93.0					2																	27596752		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27596752G>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.346G>A	2.37:g.27596752G>A	ENSP00000233575:p.Glu116Lys					SNX17_ENST00000537606.1_Missense_Mutation_p.E91K|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR	p.E116K	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN			5	568	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		116			Ras-associating.		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.346G>A	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139877	0.56936	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.73681	-0.77;-0.77	5.2	5.2	0.72013	Ras-association (1);	0.357683	0.32640	N	0.005829	T	0.61135	0.2323	L	0.39020	1.185	0.80722	D	1	B;B;B;P	0.34462	0.13;0.118;0.118;0.454	B;B;B;B	0.27262	0.023;0.054;0.054;0.078	T	0.59043	-0.7528	10	0.22706	T	0.39	-17.1027	13.212	0.59830	0.0:0.16:0.8399:0.0	.	91;104;96;116	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	K	116;91	ENSP00000233575:E116K;ENSP00000439208:E91K	ENSP00000233575:E116K	E	+	1	0	SNX17	27450256	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.492000	0.90471	2.705000	0.92388	0.561000	0.74099	GAA		0.537	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		6	19	0	0	0	1	0	6	19				
MKL2	57496	broad.mit.edu	37	16	14341306	14341306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:14341306C>T	ENST00000341243.5	+	10	2156	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Missense_Mutation_p.S730F			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	719	Gln-rich.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCCCAGTGTCCATCCAGGGC	0.552																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2188-2190)tCc>tTc		MKL/myocardin-like 2																																				SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14341306C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2156C>T	16.37:g.14341306C>T	ENSP00000345841:p.Ser719Phe					MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.S719F|MKL2_ENST00000574045.1_Intron	p.S730F	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			12	2361	+			719			Gln-rich.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.2189C>T		.	.	.	.	.	.	.	.	.	.	C	24.6	4.545802	0.86022	.	.	ENSG00000186260	ENST00000341243	.	.	.	5.73	5.73	0.89815	.	0.160346	0.56097	D	0.000022	T	0.79131	0.4394	.	.	.	0.58432	D	0.999991	D	0.76494	0.999	D	0.68192	0.956	T	0.78373	-0.2229	7	.	.	.	-21.535	18.8587	0.92264	0.0:1.0:0.0:0.0	.	730	B4DGT8	.	F	719	.	.	S	+	2	0	MKL2	14248807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.728000	0.74769	2.700000	0.92200	0.655000	0.94253	TCC		0.552	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		4	9	0	0	0	1	0	4	9				
NGDN	25983	broad.mit.edu	37	14	23944467	23944467	+	Missense_Mutation	SNP	G	G	A	rs147692634	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23944467G>A	ENST00000408901.3	+	4	260	c.232G>A	c.(232-234)Gga>Aga	p.G78R	NGDN_ENST00000556580.1_5'Flank|NGDN_ENST00000397154.3_Missense_Mutation_p.G78R	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	78	Necessary for interaction with EIF4E. {ECO:0000250}.				regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCTCAGGAGGATCTCTTCA	0.458																																						ENST00000397154.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12						c.(232-234)Gga>Aga		neuroguidin, EIF4E binding protein							144.0	129.0	134.0					14																	23944467		2203	4300	6503	SO:0001583	missense	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23944467G>A	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"""chromosome 14 open reading frame 120"""	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.232G>A	14.37:g.23944467G>A	ENSP00000386134:p.Gly78Arg					NGDN_ENST00000408901.3_Missense_Mutation_p.G78R	p.G78R			Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	245	+	all_cancers(95;0.000251)		78			Necessary for interaction with EIF4E (By similarity).		A8K760|Q9Y400	Missense_Mutation	SNP	ENST00000408901.3	37	c.232G>A	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.510500|1.510500	0.27036|0.27036	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154;ENST00000555128|ENST00000556483	T;T|.	0.30448|.	1.54;1.53|.	6.17|6.17	3.05|3.05	0.35203|0.35203	.|.	0.612260|.	0.18603|.	N|.	0.136398|.	T|T	0.15782|0.15782	0.0380|0.0380	N|N	0.01188|0.01188	-0.97|-0.97	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.06972|0.06972	-1.0797|-1.0797	10|5	0.16420|.	T|.	0.52|.	-1.0764|-1.0764	4.5431|4.5431	0.12067|0.12067	0.2478:0.2746:0.4776:0.0|0.2478:0.2746:0.4776:0.0	.|.	78;78|.	Q8NEJ9-2;Q8NEJ9|.	.;NGDN_HUMAN|.	R|K	78;78;53|71	ENSP00000386134:G78R;ENSP00000380340:G78R|.	ENSP00000380340:G78R|.	G|R	+|+	1|2	0|0	NGDN|NGDN	23014307|23014307	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.990000|0.990000	0.78478|0.78478	1.300000|1.300000	0.33436|0.33436	1.636000|1.636000	0.50526|0.50526	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.458	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		34	56	0	0	0	1	0	34	56				
DNAH8	1769	broad.mit.edu	37	6	38897329	38897329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:38897329G>A	ENST00000359357.3	+	73	10764	c.10510G>A	c.(10510-10512)Gac>Aac	p.D3504N	DNAH8_ENST00000441566.1_Missense_Mutation_p.D3468N|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3721N|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3504	AAA 5. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACTTGGAGGACAGCCTTTC	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(10510-10512)Gac>Aac		dynein, axonemal, heavy chain 8							146.0	140.0	142.0					6																	38897329		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38897329G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10510G>A	6.37:g.38897329G>A	ENSP00000352312:p.Asp3504Asn					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3468N|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3721N	p.D3504N							73	10764	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10510G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.660083	0.96734	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20881	2.04;2.04;2.04	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.17248	0.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06770	-1.0808	10	0.12430	T	0.62	.	19.7276	0.96170	0.0:0.0:1.0:0.0	.	3504	Q96JB1	DYH8_HUMAN	N	3709;3709;3504;3468	ENSP00000333363:D3709N;ENSP00000352312:D3504N;ENSP00000402294:D3468N	ENSP00000333363:D3709N	D	+	1	0	DNAH8	39005307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.320000	0.96346	2.649000	0.89929	0.555000	0.69702	GAC		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		47	32	0	0	0	1	0	47	32				
PLCH1	23007	broad.mit.edu	37	3	155199306	155199306	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:155199306G>A	ENST00000340059.7	-	23	4532	c.4533C>T	c.(4531-4533)taC>taT	p.Y1511Y	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.Y1473Y|PLCH1_ENST00000414191.1_Silent_p.Y1473Y|PLCH1_ENST00000460012.1_Silent_p.Y1473Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1511					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TAATACACTGGTACTTGCTCT	0.453																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4417-4419)taC>taT		phospholipase C, eta 1							71.0	71.0	71.0					3																	155199306		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199306G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4533C>T	3.37:g.155199306G>A						PLCH1_ENST00000414191.1_Silent_p.Y1473Y|PLCH1_ENST00000334686.6_Silent_p.Y1473Y|PLCH1_ENST00000340059.7_Silent_p.Y1511Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	p.Y1473Y			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4776	-			1511					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4419C>T	CCDS46939.1																																																																																				0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		25	38	0	0	0	1	0	25	38				
AFMID	125061	broad.mit.edu	37	17	76200817	76200817	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:76200817C>T	ENST00000327898.5	+	5	398	c.389C>T	c.(388-390)cCc>cTc	p.P130L	AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Missense_Mutation_p.P130L|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGCATCGCCCCCAAAGGTAAT	0.592																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(388-390)cCc>cTc		arylformamidase							93.0	70.0	78.0					17																	76200817		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76200817C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.389C>T	17.37:g.76200817C>T	ENSP00000328938:p.Pro130Leu					AFMID_ENST00000589664.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.P130L|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron	p.P130L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		5	443	+			130						Missense_Mutation	SNP	ENST00000327898.5	37	c.389C>T	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491872	0.64074	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.44083	0.93;0.93	4.89	4.89	0.63831	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83070	-0.0143	10	0.87932	D	0	-30.8364	15.9938	0.80225	0.0:1.0:0.0:0.0	.	130;130	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	L	130	ENSP00000386890:P130L;ENSP00000328938:P130L	ENSP00000328938:P130L	P	+	2	0	AFMID	73712412	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	6.458000	0.73509	2.521000	0.84997	0.655000	0.94253	CCC		0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		13	27	0	0	0	1	0	13	27				
ZNF337	26152	broad.mit.edu	37	20	25655811	25655811	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:25655811T>G	ENST00000376436.1	-	4	2652	c.2113A>C	c.(2113-2115)Aga>Cga	p.R705R	RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R705R|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Silent_p.R673R|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	705					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTGTATTCTTTCATGCACA	0.453																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2113-2115)Aga>Cga		zinc finger protein 337							239.0	227.0	231.0					20																	25655811		2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25655811T>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2113A>C	20.37:g.25655811T>G						RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R705R|ZNF337_ENST00000538750.1_Silent_p.R673R	p.R705R							4	2652	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.2113A>C	CCDS13174.1																																																																																				0.453	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			62	107	0	0	0	1	0	62	107				
OR6N2	81442	broad.mit.edu	37	1	158746855	158746855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158746855C>T	ENST00000339258.1	-	1	570	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GCAGATGTGTCCTTGCAGGCC	0.418																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(571-573)Gac>Aac		olfactory receptor, family 6, subfamily N, member 2							48.0	46.0	47.0					1																	158746855		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158746855C>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.571G>A	1.37:g.158746855C>T	ENSP00000344101:p.Asp191Asn						p.D191N	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	570	-	all_hematologic(112;0.0378)		191					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.571G>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015691	0.54468	.	.	ENSG00000188340	ENST00000339258	T	0.00231	8.49	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001131	T	0.00073	0.0002	M	0.65975	2.015	0.29231	N	0.873282	B	0.27286	0.174	B	0.35073	0.195	T	0.22521	-1.0214	10	0.51188	T	0.08	-8.138	6.9895	0.24748	0.0:0.7405:0.0:0.2595	.	191	Q8NGY6	OR6N2_HUMAN	N	191	ENSP00000344101:D191N	ENSP00000344101:D191N	D	-	1	0	OR6N2	157013479	0.001000	0.12720	1.000000	0.80357	0.933000	0.57130	0.471000	0.22100	1.358000	0.45922	0.650000	0.86243	GAC		0.418	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			10	25	0	0	0	1	0	10	25				
ATP5C1	509	broad.mit.edu	37	10	7841765	7841765	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7841765C>T	ENST00000356708.7	+	5	538	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ATP5C1_ENST00000541227.1_Silent_p.F106F|ATP5C1_ENST00000335698.4_Silent_p.F153F|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	153					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGTGGCATTCAAAGAAGTGG	0.428																																					Melanoma(143;1012 1820 16249 30920 33158)	ENST00000356708.7																			0				breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(457-459)ttC>ttT		ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1							63.0	63.0	63.0					10																	7841765		2203	4300	6503	SO:0001819	synonymous_variant	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7841765C>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.459C>T	10.37:g.7841765C>T						ATP5C1_ENST00000541227.1_Silent_p.F106F|ATP5C1_ENST00000335698.4_Silent_p.F153F|ATP5C1_ENST00000493053.1_3'UTR	p.F153F	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN			5	538	+			153					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	c.459C>T	CCDS31142.1																																																																																				0.428	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		26	37	0	0	0	1	0	26	37				
TIE1	7075	broad.mit.edu	37	1	43774667	43774667	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774667C>T	ENST00000372476.3	+	8	1132	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCGGATCCCCCAGATCCTCA	0.597																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1051-1053)ccC>ccT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							76.0	64.0	68.0					1																	43774667		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774667C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1053C>T	1.37:g.43774667C>T						TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	p.P351P	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			8	1132	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	351					B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1053C>T	CCDS482.1																																																																																				0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		8	39	0	0	0	1	0	8	39				
IGKV1-27	28935	broad.mit.edu	37	2	89513367	89513367	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:89513367G>A	ENST00000498435.1	-	0	46									immunoglobulin kappa variable 1-27																		AGCTGAGCAGGGACCCTCATG	0.522																																						ENST00000498435.1																			0																				82.0	80.0	80.0					2																	89513367		1900	4119	6019			28935							g.chr2:89513367G>A	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89513367G>A														0	46	-									RNA	SNP	ENST00000498435.1	37																																																																																						0.522	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		26	54	0	0	0	1	0	26	54				
ZNF804B	219578	broad.mit.edu	37	7	88847469	88847469	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88847469G>A	ENST00000333190.4	+	2	718	c.109G>A	c.(109-111)Gat>Aat	p.D37N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	37							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTTAAAGGATTTTGCAGA	0.348										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.e2-1		zinc finger protein 804B							59.0	59.0	59.0					7																	88847469		2203	4300	6503	SO:0001630	splice_region_variant	219578					intracellular	zinc ion binding	g.chr7:88847469G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.109-1G>A	7.37:g.88847469G>A		HNSCC(36;0.09)					p.D37_splice	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		2	718	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		37					B2RTV2|Q7Z714|Q96MN7	Splice_Site	SNP	ENST00000333190.4	37	c.108_splice	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047271	0.93740	.	.	ENSG00000182348	ENST00000333190	T	0.12984	2.63	5.05	5.05	0.67936	.	0.117823	0.36555	N	0.002535	T	0.22437	0.0541	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.02320	-1.1177	9	.	.	.	-3.004	18.5902	0.91208	0.0:0.0:1.0:0.0	.	37	A4D1E1	Z804B_HUMAN	N	37	ENSP00000329638:D37N	.	D	+	1	0	ZNF804B	88685405	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.394000	0.97261	2.625000	0.88918	0.484000	0.47621	GAT		0.348	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	Missense_Mutation	24	39	0	0	0	1	0	24	39				
ST18	9705	broad.mit.edu	37	8	53073958	53073958	+	Missense_Mutation	SNP	C	C	T	rs530224297		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:53073958C>T	ENST00000276480.7	-	14	2254	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	524					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R524Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGTGTTTTTCGTCCTTGCAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		18985	0.0		0.0	False		,,,				2504	0.001					ENST00000276480.7																			1	Substitution - Missense(1)	p.R524Q(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1570-1572)cGa>cAa		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							189.0	183.0	185.0					8																	53073958		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073958C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1571G>A	8.37:g.53073958C>T	ENSP00000276480:p.Arg524Gln						p.R524Q	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2254	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	524					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1571G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233589	0.22626	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.36699	1.24;1.24	5.46	0.156	0.14910	Myelin transcription factor 1 (1);	0.590344	0.18782	N	0.131303	T	0.18173	0.0436	N	0.17564	0.495	0.20873	N	0.999837	B;B	0.16396	0.017;0.001	B;B	0.06405	0.002;0.002	T	0.26395	-1.0104	10	0.14252	T	0.57	0.2015	9.6381	0.39822	0.0:0.4892:0.0:0.5108	.	524;524	E5RHS3;O60284	.;ST18_HUMAN	Q	524	ENSP00000276480:R524Q;ENSP00000428521:R524Q	ENSP00000276480:R524Q	R	-	2	0	ST18	53236511	0.297000	0.24408	0.553000	0.28255	0.919000	0.55068	-0.343000	0.07791	0.035000	0.15519	0.558000	0.71614	CGA		0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			25	61	0	0	0	1	0	25	61				
SEZ6L	23544	broad.mit.edu	37	22	26688598	26688598	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:26688598C>T	ENST00000248933.6	+	2	416	c.321C>T	c.(319-321)gcC>gcT	p.A107A	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.A107A|SEZ6L_ENST00000360929.3_Silent_p.A107A|SEZ6L_ENST00000404234.3_Silent_p.A107A|SEZ6L_ENST00000529632.2_Silent_p.A107A|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	107					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGAGGAGGCCCGCCCCAAGC	0.652																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(319-321)gcC>gcT		seizure related 6 homolog (mouse)-like							45.0	38.0	40.0					22																	26688598		2202	4300	6502	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688598C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.321C>T	22.37:g.26688598C>T						SEZ6L_ENST00000404234.3_Silent_p.A107A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Silent_p.A107A|SEZ6L_ENST00000343706.4_Silent_p.A107A|SEZ6L_ENST00000360929.3_Silent_p.A107A	p.A107A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	517	+			107					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.321C>T	CCDS13833.1																																																																																				0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			13	16	0	0	0	1	0	13	16				
ACACB	32	broad.mit.edu	37	12	109690903	109690903	+	Silent	SNP	C	C	T	rs564550427		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000543201.1_Silent_p.T661T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				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)	CCCACATCACCGTGCCAGATG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		5710	0.0		0.0	False		,,,				2504	0.001					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.(5983-5985)acC>acT		acetyl-CoA carboxylase beta	Biotin(DB00121)						345.0	287.0	307.0					12																	109690903		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:109690903C>T	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.5985C>T	12.37:g.109690903C>T						ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T	p.T1995T			O00763	ACACB_HUMAN			43	6104	+			1995			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5985C>T	CCDS31898.1																																																																																				0.512	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		76	207	0	0	0	1	0	76	207				
ACOX1	51	broad.mit.edu	37	17	73945810	73945810	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73945810G>A	ENST00000301608.4	-	10	1527	c.1467C>T	c.(1465-1467)ctC>ctT	p.L489L	ACOX1_ENST00000293217.5_Silent_p.L489L|ACOX1_ENST00000537812.1_Silent_p.L451L	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	489					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TGGCTGCACGGAGTTTATATG	0.557																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(1351-1353)ctC>ctT		acyl-CoA oxidase 1, palmitoyl							106.0	84.0	91.0					17																	73945810		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73945810G>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1467C>T	17.37:g.73945810G>A						ACOX1_ENST00000301608.4_Silent_p.L489L|ACOX1_ENST00000293217.5_Silent_p.L489L	p.L451L	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			10	2001	-			489					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.1353C>T	CCDS11735.1																																																																																				0.557	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			23	41	0	0	0	1	0	23	41				
TRPM2	7226	broad.mit.edu	37	21	45819235	45819235	+	Missense_Mutation	SNP	C	C	T	rs139554968		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819235C>T	ENST00000397928.1	+	14	2564	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	TRPM2_ENST00000397932.2_Missense_Mutation_p.R707C|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.R707C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R687C	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	707					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTGCTCACCCGCGTGTCCGA	0.622																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2119-2121)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	65.0	64.0	64.0		2119	4.2	0.0	21	dbSNP_134	64	0,8598		0,0,4299	no	missense	TRPM2	NM_003307.3	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	707/1504	45819235	1,13003	2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819235C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2119C>T	21.37:g.45819235C>T	ENSP00000381023:p.Arg707Cys					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R707C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R687C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R707C	p.R707C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			14	2564	+			707					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2119C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735506	0.49045	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	5.08	4.2	0.49525	.	0.194654	0.45361	D	0.000375	D	0.83681	0.5307	M	0.65320	2	0.54753	D	0.999983	P;P;P	0.48694	0.914;0.612;0.914	B;B;B	0.37346	0.247;0.112;0.247	D	0.84424	0.0573	10	0.59425	D	0.04	-25.7778	13.4587	0.61214	0.0:0.9239:0.0:0.0761	.	707;493;707	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	C	707;707;687;707	ENSP00000300482:R707C;ENSP00000381023:R707C;ENSP00000300481:R687C;ENSP00000381026:R707C	ENSP00000300481:R687C	R	+	1	0	TRPM2	44643663	0.999000	0.42202	0.025000	0.17156	0.722000	0.41435	4.685000	0.61693	1.140000	0.42260	0.555000	0.69702	CGC		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		33	18	0	0	0	1	0	33	18				
HCRTR2	3062	broad.mit.edu	37	6	55147226	55147226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:55147226G>A	ENST00000370862.3	+	7	1645	c.1309G>A	c.(1309-1311)Gga>Aga	p.G437R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	437					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGCCAATGGAGCAGGACC	0.383																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1309-1311)Gga>Aga		hypocretin (orexin) receptor 2							41.0	37.0	38.0					6																	55147226		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55147226G>A	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1309G>A	6.37:g.55147226G>A	ENSP00000359899:p.Gly437Arg						p.G437R	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1645	+	Lung NSC(77;0.107)|Renal(3;0.122)		437					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.1309G>A	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353830	0.82243	.	.	ENSG00000137252	ENST00000370862	T	0.62788	-0.0	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.63803	0.2542	N	0.24115	0.695	0.53688	D	0.999971	D	0.89917	1.0	D	0.91635	0.999	T	0.68941	-0.5276	10	0.59425	D	0.04	.	19.0947	0.93246	0.0:0.0:1.0:0.0	.	437	O43614	OX2R_HUMAN	R	437	ENSP00000359899:G437R	ENSP00000359899:G437R	G	+	1	0	HCRTR2	55255185	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	6.679000	0.74513	2.514000	0.84764	0.650000	0.86243	GGA		0.383	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	16	0	0	0	1	0	9	16				
RSPO2	340419	broad.mit.edu	37	8	109001352	109001352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001352C>T	ENST00000276659.5	-	3	835	c.215G>A	c.(214-216)gGa>gAa	p.G72E	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.G5E|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CAGGCACTCTCCATACTGGCG	0.478																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(214-216)gGa>gAa		R-spondin 2							122.0	100.0	108.0					8																	109001352		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001352C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.215G>A	8.37:g.109001352C>T	ENSP00000276659:p.Gly72Glu					RSPO2_ENST00000517939.1_Missense_Mutation_p.G5E|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	p.G72E	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	835	-			72					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.215G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099398	0.94197	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.92606	0.7651	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93319	0.6691	10	0.87932	D	0	-6.9332	18.9727	0.92721	0.0:1.0:0.0:0.0	.	72	Q6UXX9	RSPO2_HUMAN	E	5;72;5;5;72;44;72	ENSP00000428940:G5E;ENSP00000276659:G72E;ENSP00000428614:G5E;ENSP00000430485:G5E;ENSP00000430010:G72E;ENSP00000429159:G44E;ENSP00000430973:G72E	ENSP00000276659:G72E	G	-	2	0	RSPO2	109070528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.273000	0.78527	2.563000	0.86464	0.557000	0.71058	GGA		0.478	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		31	40	0	0	0	1	0	31	40				
NLGN3	54413	broad.mit.edu	37	X	70389887	70389887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70389887C>T	ENST00000358741.3	+	8	2790	c.2487C>T	c.(2485-2487)acC>acT	p.T829T	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.T789T|NLGN3_ENST00000374051.3_Silent_p.T809T	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	829					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTATAACACCTTTGCCGCAG	0.592																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(2425-2427)acC>acT		neuroligin 3							88.0	64.0	72.0					X																	70389887		2203	4299	6502	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389887C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2487C>T	X.37:g.70389887C>T						NLGN3_ENST00000536169.1_Silent_p.T789T|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.T829T	p.T809T	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			7	2749	+	Renal(35;0.156)		829					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.2427C>T	CCDS55441.1																																																																																				0.592	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		23	13	0	0	0	1	0	23	13				
ASPM	259266	broad.mit.edu	37	1	197072675	197072675	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:197072675C>T	ENST00000367409.4	-	18	5962	c.5706G>A	c.(5704-5706)ttG>ttA	p.L1902L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1902	IQ 10. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 11. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGAATCTTCAAGGCAGCTT	0.433																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(5704-5706)ttG>ttA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							78.0	80.0	79.0					1																	197072675		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072675C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5706G>A	1.37:g.197072675C>T						ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	p.L1902L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	5962	-			1902			IQ 10.|IQ 11.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.5706G>A	CCDS1389.1																																																																																				0.433	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		39	32	0	0	0	1	0	39	32				
UNC80	285175	broad.mit.edu	37	2	210658584	210658584	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:210658584G>A	ENST00000439458.1	+	7	1018		c.e7+1		UNC80_ENST00000272845.6_Splice_Site|UNC80_ENST00000478701.1_Splice_Site	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CACATTCCAGGTACCTGATTG	0.438																																						ENST00000439458.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.e7+1		unc-80 homolog (C. elegans)							88.0	80.0	83.0					2																	210658584		2203	4300	6503	SO:0001630	splice_region_variant	285175					integral to membrane		g.chr2:210658584G>A	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.938+1G>A	2.37:g.210658584G>A						UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.5_Splice_Site		NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN			7	1018	+								B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Splice_Site	SNP	ENST00000439458.1	37		CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924386	0.73213	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6655	0.88202	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC80	210366829	1.000000	0.71417	0.999000	0.59377	0.836000	0.47400	6.894000	0.75655	2.539000	0.85634	0.650000	0.86243	.		0.438	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	Intron	22	15	0	0	0	1	0	22	15				
LILRB2	10288	broad.mit.edu	37	19	54783921	54783921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54783921G>A	ENST00000391749.4	-	4	351	c.80C>T	c.(79-81)cCc>cTc	p.P27L	LILRB2_ENST00000434421.1_Intron|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.P27L|LILRB2_ENST00000391746.1_Missense_Mutation_p.P27L|LILRB2_ENST00000314446.5_Missense_Mutation_p.P27L	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	27	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTTGGGAATGGTCCC	0.577																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(79-81)cCc>cTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							91.0	97.0	95.0					19																	54783921		2202	4300	6502	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783921G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.80C>T	19.37:g.54783921G>A	ENSP00000375629:p.Pro27Leu					LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.P27L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P27L|LILRB2_ENST00000391746.1_Missense_Mutation_p.P27L	p.P27L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	207	-	Ovarian(34;0.19)		27			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.80C>T	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664443	0.29604	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	2.41	1.22	0.21188	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130542	0.35436	N	0.003209	T	0.19167	0.0460	M	0.87180	2.865	0.09310	N	0.999999	B;B;B	0.20988	0.012;0.05;0.025	B;B;B	0.25759	0.063;0.059;0.051	T	0.19031	-1.0318	10	0.51188	T	0.08	.	6.5187	0.22262	0.0:0.0:0.712:0.288	.	27;44;27	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	L	27	ENSP00000375628:P27L;ENSP00000319960:P27L;ENSP00000375629:P27L;ENSP00000375626:P27L	ENSP00000319960:P27L	P	-	2	0	LILRB2	59475733	0.024000	0.19004	0.012000	0.15200	0.009000	0.06853	1.392000	0.34486	0.265000	0.21872	0.289000	0.19496	CCC		0.577	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			49	74	0	0	0	1	0	49	74				
SLC35E2	9906	broad.mit.edu	37	1	1663930	1663930	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1663930G>A	ENST00000246421.4	-	6	1180	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000355439.2_Intron|SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	255						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGCGCCATGGACAAGGCGA	0.607																																						ENST00000246421.4																			0				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(763-765)tcC>tcT		solute carrier family 35, member E2							52.0	46.0	48.0					1																	1663930		2197	4283	6480	SO:0001819	synonymous_variant	9906					integral to membrane		g.chr1:1663930G>A	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.765C>T	1.37:g.1663930G>A						RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Intron	p.S255S	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	1180	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	255					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Silent	SNP	ENST00000246421.4	37	c.765C>T	CCDS33.1																																																																																				0.607	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		6	11	0	0	0	1	0	6	11				
MED25	81857	broad.mit.edu	37	19	50335577	50335577	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50335577C>T	ENST00000312865.6	+	13	1440	c.1387C>T	c.(1387-1389)Cct>Tct	p.P463S	MED25_ENST00000538643.1_Missense_Mutation_p.P250S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	463	Interaction with CREBBP.|Interaction with VP16.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CACCCTGGGCCCTTTGTTCCG	0.607																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1387-1389)Cct>Tct		mediator complex subunit 25							58.0	42.0	48.0					19																	50335577		2201	4300	6501	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50335577C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1387C>T	19.37:g.50335577C>T	ENSP00000326767:p.Pro463Ser					MED25_ENST00000538643.1_Missense_Mutation_p.P250S	p.P463S	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	13	1440	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	463			Interaction with CREBBP.|Interaction with VP16.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1387C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375814	0.61735	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	T;T	0.77489	-1.09;-1.1	5.34	5.34	0.76211	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.107028	0.64402	D	0.000004	T	0.80752	0.4683	L	0.34521	1.04	0.48511	D	0.999663	D;B;B	0.58268	0.982;0.146;0.113	D;B;B	0.65684	0.937;0.079;0.04	T	0.75207	-0.3399	10	0.13853	T	0.58	.	17.8	0.88584	0.0:1.0:0.0:0.0	.	250;463;463	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	S	463;463;463;463;463;250;198	ENSP00000326767:P463S;ENSP00000437496:P250S	ENSP00000326767:P463S	P	+	1	0	MED25	55027389	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	5.161000	0.64935	2.501000	0.84356	0.561000	0.74099	CCT		0.607	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		5	9	0	0	0	1	0	5	9				
NBPF1	55672	broad.mit.edu	37	1	16895700	16895700	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895700G>A	ENST00000430580.2	-	23	3369	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	828	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTCCTGGGGGACTTCCTCC	0.478																																						ENST00000430580.2																			0											c.(2482-2484)Ccc>Tcc		neuroblastoma breakpoint family, member 1							41.0	39.0	40.0					1																	16895700		1508	3219	4727	SO:0001583	missense	55672					cytoplasm		g.chr1:16895700G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2482C>T	1.37:g.16895700G>A	ENSP00000474456:p.Pro828Ser					NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.P828S	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3369	-			828			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2482C>T																																																																																					0.478	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		24	297	0	0	0	1	0	24	297				
CTNNA2	1496	broad.mit.edu	37	2	80646673	80646673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80646673G>T	ENST00000402739.4	+	8	1242	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000466387.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	413					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGAAAAGGAAGTGAAAGA	0.453																																						ENST00000466387.1																			1	Substitution - Nonsense(1)	p.E413*(1)	lung(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1237-1239)Gaa>Taa		catenin (cadherin-associated protein), alpha 2							117.0	116.0	116.0					2																	80646673		2044	4233	6277	SO:0001587	stop_gained	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80646673G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1237G>T	2.37:g.80646673G>T	ENSP00000384638:p.Glu413*					CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*	p.E413*			P26232	CTNA2_HUMAN			13	1961	+			413					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Nonsense_Mutation	SNP	ENST00000402739.4	37	c.1237G>T		.	.	.	.	.	.	.	.	.	.	G	42	9.367925	0.99150	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	413;413;447;413;413;413;92;78	.	.	E	+	1	0	CTNNA2	80500184	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GAA		0.453	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		29	53	1	0	9.39395e-14	1	9.53377e-14	29	53				
C8orf31	286122	broad.mit.edu	37	8	144124661	144124661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124661G>A	ENST00000395172.1	+	3	520	c.168G>A	c.(166-168)tgG>tgA	p.W56*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	56										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAGAGATCTGGGAGTCCACAA	0.607																																						ENST00000395172.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(166-168)tgG>tgA		chromosome 8 open reading frame 31							36.0	38.0	38.0					8																	144124661		2203	4300	6503	SO:0001587	stop_gained	286122							g.chr8:144124661G>A		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.168G>A	8.37:g.144124661G>A	ENSP00000378601:p.Trp56*					C8orf31_ENST00000517653.1_3'UTR	p.W56*	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	520	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		56					Q6GMU7	Nonsense_Mutation	SNP	ENST00000395172.1	37	c.168G>A	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	12.98	2.100922	0.37048	.	.	ENSG00000177335	ENST00000395172	.	.	.	1.55	-3.1	0.05315	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.0792	0.01639	0.1406:0.3212:0.2187:0.3195	.	.	.	.	X	56	.	ENSP00000378601:W56X	W	+	3	0	C8orf31	144196036	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.616000	0.05591	-2.963000	0.00289	-1.062000	0.02293	TGG		0.607	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		8	13	0	0	0	1	0	8	13				
OR2M3	127062	broad.mit.edu	37	1	248366679	248366679	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248366679T>G	ENST00000456743.1	+	1	348	c.310T>G	c.(310-312)Tat>Gat	p.Y104D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AATTTTCTTCTATACATCACT	0.478																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(310-312)Tat>Gat		olfactory receptor, family 2, subfamily M, member 3							260.0	264.0	263.0					1																	248366679		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366679T>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.310T>G	1.37:g.248366679T>G	ENSP00000389625:p.Tyr104Asp						p.Y104D	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	348	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		104					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.310T>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.221025	0.39201	.	.	ENSG00000228198	ENST00000456743	T	0.00397	7.57	2.55	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.319686	0.17399	U	0.175626	T	0.00356	0.0011	M	0.72479	2.2	0.09310	N	1	P	0.44380	0.834	B	0.42062	0.374	T	0.47837	-0.9086	10	0.87932	D	0	.	7.7572	0.28932	0.1866:0.0:0.0:0.8133	.	104	Q8NG83	OR2M3_HUMAN	D	104	ENSP00000389625:Y104D	ENSP00000389625:Y104D	Y	+	1	0	OR2M3	246433302	0.001000	0.12720	0.004000	0.12327	0.013000	0.08279	0.451000	0.21779	1.168000	0.42723	0.333000	0.21579	TAT		0.478	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		220	70	0	0	0	1	0	220	70				
PKHD1	5314	broad.mit.edu	37	6	51524307	51524307	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524307C>T	ENST00000371117.3	-	61	10892	c.10617G>A	c.(10615-10617)atG>atA	p.M3539I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3539					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGGTTATCCATGATGTTGA	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10615-10617)atG>atA		polycystic kidney and hepatic disease 1 (autosomal recessive)							73.0	70.0	71.0					6																	51524307		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524307C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10617G>A	6.37:g.51524307C>T	ENSP00000360158:p.Met3539Ile						p.M3539I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10892	-	Lung NSC(77;0.0605)		3539					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.10617G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806964	0.31961	.	.	ENSG00000170927	ENST00000371117	D	0.85773	-2.03	5.93	2.17	0.27698	.	0.799060	0.11912	N	0.517590	T	0.57051	0.2027	N	0.19112	0.55	0.40097	D	0.976323	B	0.21071	0.051	B	0.14023	0.01	T	0.50355	-0.8838	10	0.39692	T	0.17	.	6.4022	0.21644	0.0:0.5549:0.1186:0.3265	.	3539	P08F94	PKHD1_HUMAN	I	3539	ENSP00000360158:M3539I	ENSP00000360158:M3539I	M	-	3	0	PKHD1	51632266	0.969000	0.33509	0.986000	0.45419	0.984000	0.73092	0.700000	0.25601	0.415000	0.25817	-0.165000	0.13383	ATG		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		9	31	0	0	0	1	0	9	31				
MECR	51102	broad.mit.edu	37	1	29533322	29533322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:29533322G>A	ENST00000263702.6	-	4	527	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Missense_Mutation_p.P92S			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	168					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GCTGTGCAGGGATTGACACCC	0.602																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.(274-276)Ccc>Tcc		mitochondrial trans-2-enoyl-CoA reductase							133.0	113.0	120.0					1																	29533322		2203	4300	6503	SO:0001583	missense	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29533322G>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"""nuclear receptor binding factor 1"", ""mitochondrial 2-enoyl thioester reductase"""	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.502C>T	1.37:g.29533322G>A	ENSP00000263702:p.Pro168Ser					MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.P168S	p.P92S	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	4	646	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	168					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	ENST00000263702.6	37	c.274C>T	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026811	0.93518	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792;ENST00000453185	T;T	0.59364	0.27;0.27	5.89	5.89	0.94794	GroES-like (1);NAD(P)-binding domain (1);	0.094779	0.85682	D	0.000000	T	0.81513	0.4838	M	0.92219	3.285	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.83637	0.0148	10	0.46703	T	0.11	.	17.7556	0.88447	0.0:0.0:1.0:0.0	.	168	Q9BV79	MECR_HUMAN	S	92;168;80;7	ENSP00000362896:P92S;ENSP00000263702:P168S	ENSP00000263702:P168S	P	-	1	0	MECR	29405909	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.813000	0.91963	2.793000	0.96121	0.655000	0.94253	CCC		0.602	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011		15	46	0	0	0	1	0	15	46				
DENND5A	23258	broad.mit.edu	37	11	9225624	9225624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:9225624C>T	ENST00000328194.3	-	4	852	c.532G>A	c.(532-534)Gag>Aag	p.E178K	DENND5A_ENST00000530044.1_Missense_Mutation_p.E178K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	178					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCATCCTCCATGCTGCTC	0.522																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(532-534)Gag>Aag		DENN/MADD domain containing 5A							182.0	143.0	156.0					11																	9225624		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9225624C>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.532G>A	11.37:g.9225624C>T	ENSP00000328524:p.Glu178Lys					DENND5A_ENST00000530044.1_Missense_Mutation_p.E178K	p.E178K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	852	-			178					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.532G>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547138	0.27652	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.03982	3.75;3.74	5.54	4.44	0.53790	.	0.405503	0.27482	N	0.019173	T	0.03348	0.0097	N	0.16368	0.405	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.001;0.004	T	0.32107	-0.9919	10	0.06365	T	0.9	-7.6087	15.2724	0.73712	0.0:0.9216:0.0:0.0784	.	178;178	E9PS91;Q6IQ26	.;DEN5A_HUMAN	K	178	ENSP00000328524:E178K;ENSP00000435866:E178K	ENSP00000328524:E178K	E	-	1	0	DENND5A	9182200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.735000	0.47377	2.607000	0.88179	0.655000	0.94253	GAG		0.522	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		26	34	0	0	0	1	0	26	34				
CDH10	1008	broad.mit.edu	37	5	24535389	24535389	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24535389C>T	ENST00000264463.4	-	5	1154		c.e5-1			NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGATGATACCTTGAGAAAAT	0.368										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.e5-1		cadherin 10, type 2 (T2-cadherin)							123.0	107.0	113.0					5																	24535389		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535389C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.647-1G>A	5.37:g.24535389C>T		HNSCC(23;0.051)						NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1154	-								Q9ULB3	Splice_Site	SNP	ENST00000264463.4	37		CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367624	0.82463	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8001	0.92013	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH10	24571146	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.818000	0.86416	2.686000	0.91538	0.655000	0.94253	.		0.368	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Intron	17	36	0	0	0	1	0	17	36				
CDH23	64072	broad.mit.edu	37	10	73539197	73539197	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73539197C>T	ENST00000224721.6	+	40	5381	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1787	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGATGGAGACCCTCTGGGTG	0.632																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5374-5376)gaC>gaT		cadherin-related 23							25.0	25.0	25.0					10																	73539197		2008	4176	6184	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73539197C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5376C>T	10.37:g.73539197C>T							p.D1792D	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			40	5381	+			1787			Cadherin 17.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5376C>T																																																																																					0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	16	0	0	0	1	0	6	16				
DHX37	57647	broad.mit.edu	37	12	125435019	125435019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125435019G>A	ENST00000308736.2	-	23	3159	c.3061C>T	c.(3061-3063)Cca>Tca	p.P1021S	DHX37_ENST00000544745.1_Missense_Mutation_p.P808S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1021							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GTAGGGGCTGGTTCCTCCAGG	0.672																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3061-3063)Cca>Tca		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125435019G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3061C>T	12.37:g.125435019G>A	ENSP00000311135:p.Pro1021Ser					DHX37_ENST00000544745.1_Missense_Mutation_p.P808S	p.P1021S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3159	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1021					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3061C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046075	0.75846	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03801	3.87;3.8	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.30448	0.0765	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.34378	-0.9831	10	0.72032	D	0.01	-16.8542	18.4511	0.90704	0.0:0.0:1.0:0.0	.	808;1021	F5H3Y4;Q8IY37	.;DHX37_HUMAN	S	1021;808	ENSP00000311135:P1021S;ENSP00000439009:P808S	ENSP00000311135:P1021S	P	-	1	0	DHX37	124000972	1.000000	0.71417	0.993000	0.49108	0.326000	0.28443	9.652000	0.98499	2.360000	0.80028	0.555000	0.69702	CCA		0.672	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		10	44	0	0	0	1	0	10	44				
ALB	213	broad.mit.edu	37	4	74279294	74279294	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74279294T>C	ENST00000503124.1	+	6	758	c.551T>C	c.(550-552)gTt>gCt	p.V184A	ALB_ENST00000509063.1_Missense_Mutation_p.V334A|ALB_ENST00000415165.2_Missense_Mutation_p.V142A|ALB_ENST00000401494.3_Missense_Mutation_p.V219A|ALB_ENST00000295897.4_Missense_Mutation_p.V334A|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGATTTTGTTGAAAGTAAG	0.403																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1000-1002)gTt>gCt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						145.0	136.0	139.0					4																	74279294		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279294T>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.551T>C	4.37:g.74279294T>C	ENSP00000421027:p.Val184Ala					ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V184A|ALB_ENST00000509063.1_Missense_Mutation_p.V334A|ALB_ENST00000415165.2_Missense_Mutation_p.V142A|ALB_ENST00000401494.3_Missense_Mutation_p.V219A	p.V334A	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1090	+	Breast(15;0.00102)		334			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1001T>C		.	.	.	.	.	.	.	.	.	.	T	7.077	0.569532	0.13560	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.98	-0.648	0.11464	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.567604	0.18318	N	0.144892	T	0.63402	0.2508	L	0.47716	1.5	0.23876	N	0.996593	B;B;B;B;B	0.20887	0.008;0.017;0.035;0.049;0.017	B;B;B;B;B	0.34991	0.151;0.147;0.193;0.121;0.063	T	0.55095	-0.8194	10	0.27785	T	0.31	-12.5763	10.5485	0.45074	0.0:0.4487:0.0:0.5513	.	219;142;184;334;334	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	A	334;142;184;334;219;343	ENSP00000295897:V334A;ENSP00000401820:V142A;ENSP00000421027:V184A;ENSP00000422784:V334A;ENSP00000384695:V219A	ENSP00000295897:V334A	V	+	2	0	ALB	74498158	0.402000	0.25311	0.373000	0.26003	0.017000	0.09413	0.889000	0.28282	-0.300000	0.08895	0.528000	0.53228	GTT		0.403	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		39	42	0	0	0	1	0	39	42				
IL1RAPL2	26280	broad.mit.edu	37	X	104440200	104440200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104440200G>A	ENST00000372582.1	+	3	882	c.126G>A	c.(124-126)atG>atA	p.M42I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M42I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	42	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGACATACATGGCTTTGGCAG	0.453																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(124-126)atG>atA		interleukin 1 receptor accessory protein-like 2							179.0	142.0	154.0					X																	104440200		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440200G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.126G>A	X.37:g.104440200G>A	ENSP00000361663:p.Met42Ile					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M42I	p.M42I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			3	882	+			42			Ig-like C2-type 1.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.126G>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425346	0.43020	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.76186	-1.0;-1.0	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.59362	0.2188	N	0.22421	0.69	0.80722	D	1	P	0.37061	0.58	B	0.29524	0.103	T	0.59506	-0.7442	10	0.22109	T	0.4	.	17.512	0.87763	0.0:0.0:1.0:0.0	.	42	Q9NP60	IRPL2_HUMAN	I	42	ENSP00000361663:M42I;ENSP00000344976:M42I	ENSP00000344976:M42I	M	+	3	0	IL1RAPL2	104326856	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.672000	0.37523	2.350000	0.79820	0.600000	0.82982	ATG		0.453	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		59	54	0	0	0	1	0	59	54				
TNS4	84951	broad.mit.edu	37	17	38640845	38640845	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38640845C>T	ENST00000254051.6	-	6	1550	c.1392G>A	c.(1390-1392)agG>agA	p.R464R		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCCTCCTTCCTCAGCAGCT	0.597																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1390-1392)agG>agA		tensin 4							64.0	58.0	60.0					17																	38640845		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38640845C>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1392G>A	17.37:g.38640845C>T							p.R464R	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		6	1550	-		Breast(137;0.000496)	464			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1392G>A	CCDS11368.1																																																																																				0.597	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		21	38	0	0	0	1	0	21	38				
CEP170B	283638	broad.mit.edu	37	14	105353151	105353151	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105353151C>T	ENST00000414716.3	+	12	2803	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S	CEP170B_ENST00000418279.1_Missense_Mutation_p.P789S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P789S|CEP170B_ENST00000453495.1_Missense_Mutation_p.P860S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	859						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ACCCGACGGCCCTGCCCCAGC	0.667																																						ENST00000453495.1																			0											c.(2578-2580)Cct>Tct		centrosomal protein 170B							24.0	33.0	30.0					14																	105353151		1995	4150	6145	SO:0001583	missense	283638							g.chr14:105353151C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2575C>T	14.37:g.105353151C>T	ENSP00000404151:p.Pro859Ser					CEP170B_ENST00000556508.1_Missense_Mutation_p.P789S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P859S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P789S	p.P860S							12	2806	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.2578C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.921923	0.00498	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.40756	1.02;1.02;1.03;1.03	4.35	-0.351	0.12602	.	1.922390	0.02475	N	0.087903	T	0.20292	0.0488	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.13176	-1.0519	10	0.02654	T	1	17.6717	2.1467	0.03789	0.1309:0.323:0.1161:0.4301	.	859;859;789	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	S	789;859;860;789	ENSP00000451249:P789S;ENSP00000404151:P859S;ENSP00000407238:P860S;ENSP00000415006:P789S	ENSP00000404151:P859S	P	+	1	0	KIAA0284	104424196	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-0.165000	0.09968	0.005000	0.14708	0.462000	0.41574	CCT		0.667	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		21	35	0	0	0	1	0	21	35				
MPPED1	758	broad.mit.edu	37	22	43831035	43831035	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:43831035G>A	ENST00000417669.2	+	3	750	c.306G>A	c.(304-306)acG>acA	p.T102T	MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000443721.1_Silent_p.T102T|MPPED1_ENST00000538182.1_Silent_p.T135T|MPPED1_ENST00000542779.1_Silent_p.T102T|MPPED1_ENST00000439548.1_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	102							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				ACTCGAGGACGGACCCCATCC	0.632																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(304-306)acG>acA		metallophosphoesterase domain containing 1							104.0	120.0	115.0					22																	43831035		2133	4228	6361	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43831035G>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.306G>A	22.37:g.43831035G>A						MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.T135T|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Silent_p.T102T|MPPED1_ENST00000443721.1_Silent_p.T102T	p.T102T			O15442	MPPD1_HUMAN			3	750	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	102					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.306G>A	CCDS46723.1																																																																																				0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		35	83	0	0	0	1	0	35	83				
NLRC3	197358	broad.mit.edu	37	16	3606980	3606980	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3606980G>A	ENST00000301749.7	-	0	2520				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGTCCAATGGAGTTACCGC	0.552																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							69.0	76.0	74.0					16																	3606980		1942	4139	6081			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3606980G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3606980G>A						NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2520	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.552	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		15	21	0	0	0	1	0	15	21				
KBTBD6	89890	broad.mit.edu	37	13	41705882	41705882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705882G>A	ENST00000379485.1	-	1	1000	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGCACTGGGACCCCGCTCT	0.572																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(766-768)Ccc>Tcc		kelch repeat and BTB (POZ) domain containing 6							60.0	61.0	60.0					13																	41705882		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705882G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.766C>T	13.37:g.41705882G>A	ENSP00000368799:p.Pro256Ser					KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190S	p.P256S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1000	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	256					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.766C>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	5.993	0.367120	0.11352	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.67523	-0.27;-0.27	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.356526	0.26883	N	0.022001	T	0.41673	0.1169	N	0.20574	0.59	0.25806	N	0.984452	P;B	0.35011	0.48;0.203	B;B	0.27715	0.082;0.077	T	0.19095	-1.0316	10	0.17369	T	0.5	.	7.2012	0.25881	0.1232:0.0:0.8768:0.0	.	190;256	F5GZN7;Q86V97	.;KBTB6_HUMAN	S	256;190	ENSP00000368799:P256S;ENSP00000444326:P190S	ENSP00000368799:P256S	P	-	1	0	KBTBD6	40603882	0.396000	0.25262	0.557000	0.28306	0.993000	0.82548	0.730000	0.26043	2.065000	0.61736	0.462000	0.41574	CCC		0.572	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		26	57	0	0	0	1	0	26	57				
RP3-331H24.5	0	broad.mit.edu	37	6	72113281	72113281	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72113281C>T	ENST00000602823.1	-	0	267				MIR30A_ENST00000385092.1_RNA																							ACTGAAAGCCCATCTGTGGCT	0.453																																						ENST00000602823.1																			0																				55.0	55.0	55.0					6																	72113281		1568	3582	5150			0							g.chr6:72113281C>T																													6.37:g.72113281C>T						MIR30A_ENST00000385092.1_RNA								0	267	-									RNA	SNP	ENST00000602823.1	37																																																																																						0.453	RP3-331H24.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000467928.1			5	7	0	0	0	1	0	5	7				
KRT28	162605	broad.mit.edu	37	17	38953442	38953442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38953442T>C	ENST00000306658.7	-	4	847	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGCTCGCATGTTGTTCAACAA	0.622																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(781-783)aAc>aGc		keratin 28							71.0	70.0	70.0					17																	38953442		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953442T>C	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.782A>G	17.37:g.38953442T>C	ENSP00000305263:p.Asn261Ser						p.N261S	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			4	847	-		Breast(137;0.000301)	261			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.782A>G	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035626	0.75617	.	.	ENSG00000173908	ENST00000306658	D	0.88818	-2.43	4.96	4.96	0.65561	Filament (1);	0.108206	0.40908	D	0.000984	D	0.90133	0.6917	L	0.54323	1.7	0.31933	N	0.611946	P	0.42757	0.789	P	0.50537	0.643	D	0.92259	0.5815	10	0.72032	D	0.01	.	13.7613	0.62968	0.0:0.0:0.0:1.0	.	261	Q7Z3Y7	K1C28_HUMAN	S	261	ENSP00000305263:N261S	ENSP00000305263:N261S	N	-	2	0	KRT28	36206968	0.078000	0.21339	1.000000	0.80357	0.931000	0.56810	2.461000	0.45040	1.986000	0.57962	0.482000	0.46254	AAC		0.622	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		44	62	0	0	0	1	0	44	62				
MMRN1	22915	broad.mit.edu	37	4	90856006	90856006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:90856006G>A	ENST00000394980.1	+	7	1494	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R134K|MMRN1_ENST00000264790.2_Missense_Mutation_p.R392K			Q13201	MMRN1_HUMAN	multimerin 1	392					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACATAGTAAGAGAACAATTT	0.318																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(1174-1176)aGa>aAa		multimerin 1							56.0	65.0	62.0					4																	90856006		2175	4280	6455	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856006G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1175G>A	4.37:g.90856006G>A	ENSP00000378431:p.Arg392Lys					MMRN1_ENST00000264790.2_Missense_Mutation_p.R392K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R134K	p.R392K			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	1494	+		Hepatocellular(203;0.114)	392					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1175G>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.387619	0.01194	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.64803	0.3;0.3;-0.12	5.2	1.45	0.22620	.	0.287715	0.34555	N	0.003865	T	0.41328	0.1154	L	0.39898	1.24	0.51767	D	0.999937	B	0.02656	0.0	B	0.06405	0.002	T	0.30119	-0.9989	10	0.02654	T	1	.	5.569	0.17187	0.3666:0.1306:0.5028:0.0	.	392	Q13201	MMRN1_HUMAN	K	392;392;134	ENSP00000378431:R392K;ENSP00000264790:R392K;ENSP00000426461:R134K	ENSP00000264790:R392K	R	+	2	0	MMRN1	91075029	0.795000	0.28851	0.335000	0.25508	0.642000	0.38348	0.438000	0.21559	0.105000	0.17753	-0.224000	0.12420	AGA		0.318	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		32	45	0	0	0	1	0	32	45				
ATP5G1	516	broad.mit.edu	37	17	46972537	46972537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46972537C>T	ENST00000393366.2	+	4	240	c.137C>T	c.(136-138)cCa>cTa	p.P46L	ATP5G1_ENST00000506855.1_Missense_Mutation_p.P20L|ATP5G1_ENST00000513781.1_3'UTR|ATP5G1_ENST00000514808.1_Missense_Mutation_p.P46L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000355938.5_Missense_Mutation_p.P46L|ATP5G1_ENST00000503641.1_Intron	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)	46					ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			liver(1)|lung(1)	2						AGCAACTTCCCACTCCAGGTG	0.547																																						ENST00000393366.2																			0				liver(1)|lung(1)	2						c.(136-138)cCa>cTa		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)							133.0	123.0	127.0					17																	46972537		2203	4300	6503	SO:0001583	missense	516				ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr17:46972537C>T	D13118	CCDS11539.1	17q21.32	2012-10-12	2010-06-11		ENSG00000159199	ENSG00000159199		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	841	protein-coding gene	gene with protein product		603192	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)"""	ATP5G		8328972	Standard	NM_005175		Approved		uc002ioh.3	P05496	OTTHUMG00000160520	ENST00000393366.2:c.137C>T	17.37:g.46972537C>T	ENSP00000377033:p.Pro46Leu					ATP5G1_ENST00000503641.1_Intron|ATP5G1_ENST00000355938.5_Missense_Mutation_p.P46L|ATP5G1_ENST00000506855.1_Missense_Mutation_p.P20L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000514808.1_Missense_Mutation_p.P46L|ATP5G1_ENST00000513781.1_3'UTR	p.P46L	NM_005175.2	NP_005166.1	P05496	AT5G1_HUMAN			4	240	+			46						Missense_Mutation	SNP	ENST00000393366.2	37	c.137C>T	CCDS11539.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821234	0.50633	.	.	ENSG00000159199	ENST00000355938;ENST00000514808;ENST00000393366;ENST00000506855	T;T;T;T	0.30182	1.95;1.54;1.95;1.95	4.52	-0.132	0.13489	.	0.499227	0.22466	N	0.059693	T	0.22166	0.0534	M	0.62723	1.935	0.22435	N	0.999105	B	0.06786	0.001	B	0.06405	0.002	T	0.32268	-0.9913	10	0.09338	T	0.73	-0.5303	6.178	0.20455	0.3628:0.4793:0.0:0.1578	.	46	P05496	AT5G1_HUMAN	L	46;46;46;20	ENSP00000348205:P46L;ENSP00000422086:P46L;ENSP00000377033:P46L;ENSP00000422950:P20L	ENSP00000348205:P46L	P	+	2	0	ATP5G1	44327536	0.000000	0.05858	0.378000	0.26068	0.854000	0.48673	-0.132000	0.10467	0.158000	0.19367	0.561000	0.74099	CCA		0.547	ATP5G1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360948.2	NM_005175		31	35	0	0	0	1	0	31	35				
ALB	213	broad.mit.edu	37	4	74277801	74277801	+	Missense_Mutation	SNP	G	G	A	rs78340021|rs36067576		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277801G>A	ENST00000503124.1	+	5	559	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ALB_ENST00000509063.1_Missense_Mutation_p.E268K|ALB_ENST00000415165.2_Missense_Mutation_p.E76K|ALB_ENST00000401494.3_Missense_Mutation_p.E153K|ALB_ENST00000295897.4_Missense_Mutation_p.E268K|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.V265fs*8(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTCCACACGGAATGCTGCCA	0.453																																						ENST00000295897.4																			2	Deletion - Frameshift(2)	p.V265fs*8(2)	liver(2)	NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	GRCh37	CM050168	ALB	M	rs36067576	c.(802-804)Gaa>Aaa		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						201.0	182.0	189.0					4																	74277801		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74277801G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.352G>A	4.37:g.74277801G>A	ENSP00000421027:p.Glu118Lys					ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.E118K|ALB_ENST00000509063.1_Missense_Mutation_p.E268K|ALB_ENST00000415165.2_Missense_Mutation_p.E76K|ALB_ENST00000401494.3_Missense_Mutation_p.E153K	p.E268K	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	891	+	Breast(15;0.00102)		268			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.802G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.180770|5.180770	0.94846|0.94846	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.71698|.	-0.59;-0.59;-0.59;-0.59;-0.59|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.109676|.	0.64402|.	D|.	0.000010|.	T|T	0.78426|0.78426	0.4281|0.4281	M|M	0.77486|0.77486	2.375|2.375	0.51767|0.51767	D|D	0.999939|0.999939	D;D;D;D;D|.	0.89917|.	1.0;0.975;0.997;0.993;0.996|.	D;P;D;P;D|.	0.76575|.	0.988;0.832;0.95;0.902;0.942|.	T|T	0.76798|0.76798	-0.2826|-0.2826	10|5	0.87932|.	D|.	0|.	-42.9847|-42.9847	19.1045|19.1045	0.93287|0.93287	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	153;76;118;268;268|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	K|E	268;76;118;268;153;277|112	ENSP00000295897:E268K;ENSP00000401820:E76K;ENSP00000421027:E118K;ENSP00000422784:E268K;ENSP00000384695:E153K|.	ENSP00000295897:E268K|.	E|G	+|+	1|2	0|0	ALB|ALB	74496665|74496665	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.755000|0.755000	0.42902|0.42902	4.321000|4.321000	0.59209|0.59209	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.453	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		36	45	0	0	0	1	0	36	45				
GRAMD1A	57655	broad.mit.edu	37	19	35512503	35512503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35512503C>T	ENST00000317991.5	+	14	1765	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.H612Y|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.H291Y|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.H518Y	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	525						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTATTTCCACCATCTGGGTAG	0.587																																						ENST00000599564.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1834-1836)Cat>Tat		GRAM domain containing 1A							55.0	59.0	58.0					19																	35512503		1945	4116	6061	SO:0001583	missense	57655					integral to membrane		g.chr19:35512503C>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1573C>T	19.37:g.35512503C>T	ENSP00000441032:p.His525Tyr					CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.H525Y|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.H518Y|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.H291Y	p.H612Y			Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		15	1905	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		525					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.1834C>T	CCDS42546.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068416	0.76301	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.24723	1.84;1.84;1.84	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.49126	1.545	0.51233	D	0.999914	D;D;D;D	0.67145	0.996;0.963;0.989;0.996	D;P;D;D	0.72982	0.922;0.447;0.979;0.922	T	0.10177	-1.0641	10	0.12430	T	0.62	.	14.1668	0.65483	0.0:1.0:0.0:0.0	.	525;525;291;518	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	Y	611;291;525;518	ENSP00000423728:H291Y;ENSP00000441032:H525Y;ENSP00000439267:H518Y	ENSP00000441032:H525Y	H	+	1	0	GRAMD1A	40204343	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.279000	0.58953	2.210000	0.71456	0.491000	0.48974	CAT		0.587	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		23	52	0	0	0	1	0	23	52				
JAG2	3714	broad.mit.edu	37	14	105612755	105612755	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105612755G>A	ENST00000331782.3	-	22	3079	c.2676C>T	c.(2674-2676)tgC>tgT	p.C892C	JAG2_ENST00000347004.2_Silent_p.C854C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	892	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCAGGCAGCGGCAGCTGTTGC	0.677																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(2674-2676)tgC>tgT		jagged 2							39.0	45.0	43.0					14																	105612755		2200	4290	6490	SO:0001819	synonymous_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105612755G>A	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.2676C>T	14.37:g.105612755G>A						JAG2_ENST00000347004.2_Silent_p.C854C	p.C892C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	22	3079	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	892			VWFC.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	ENST00000331782.3	37	c.2676C>T	CCDS9998.1																																																																																				0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			32	63	0	0	0	1	0	32	63				
IVNS1ABP	10625	broad.mit.edu	37	1	185278582	185278582	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:185278582A>G	ENST00000367498.3	-	3	666	c.44T>C	c.(43-45)aTt>aCt	p.I15T	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I15T|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	15					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAAGACTCAATAAAATTTTC	0.308																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(43-45)aTt>aCt		influenza virus NS1A binding protein							72.0	78.0	76.0					1																	185278582		2202	4298	6500	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185278582A>G	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.44T>C	1.37:g.185278582A>G	ENSP00000356468:p.Ile15Thr					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I15T	p.I15T	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			3	666	-			15					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.44T>C	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.903543	0.52333	.	.	ENSG00000116679	ENST00000367498;ENST00000367497	T;T	0.70516	-0.49;2.01	5.62	5.62	0.85841	BTB/POZ fold (2);	0.111171	0.64402	D	0.000007	T	0.42562	0.1208	N	0.02120	-0.675	0.80722	D	1	P	0.38335	0.627	B	0.32677	0.15	T	0.51624	-0.8682	10	0.18710	T	0.47	.	15.8225	0.78667	1.0:0.0:0.0:0.0	.	15	Q9Y6Y0	NS1BP_HUMAN	T	15	ENSP00000356468:I15T;ENSP00000356467:I15T	ENSP00000356467:I15T	I	-	2	0	IVNS1ABP	183545205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.792000	0.91856	2.138000	0.66242	0.533000	0.62120	ATT		0.308	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		24	35	0	0	0	1	0	24	35				
OPHN1	4983	broad.mit.edu	37	X	67283999	67283999	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:67283999G>A	ENST00000355520.5	-	21	2496	c.1855C>T	c.(1855-1857)Ccg>Tcg	p.P619S	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	619					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTACCATTCGGTGTTTGATGT	0.423																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1855-1857)Ccg>Tcg		oligophrenin 1							102.0	97.0	99.0					X																	67283999		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283999G>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1855C>T	X.37:g.67283999G>A	ENSP00000347710:p.Pro619Ser					OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	p.P619S	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			21	2496	-			619					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.1855C>T	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	G	4.911	0.169339	0.09339	.	.	ENSG00000079482	ENST00000355520	T	0.44482	0.92	3.84	2.97	0.34412	.	0.516583	0.20323	N	0.094599	T	0.22898	0.0553	N	0.14661	0.345	0.42401	D	0.992561	B	0.22003	0.063	B	0.19666	0.026	T	0.05500	-1.0881	10	0.39692	T	0.17	.	6.2637	0.20915	0.138:0.0:0.862:0.0	.	619	O60890	OPHN1_HUMAN	S	619	ENSP00000347710:P619S	ENSP00000347710:P619S	P	-	1	0	OPHN1	67200724	1.000000	0.71417	0.870000	0.34147	0.463000	0.32649	3.652000	0.54439	0.982000	0.38575	0.513000	0.50165	CCG		0.423	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		59	88	0	0	0	1	0	59	88				
PLCE1	51196	broad.mit.edu	37	10	96030264	96030264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96030264C>T	ENST00000371380.3	+	17	4646	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	PLCE1_ENST00000371375.1_Missense_Mutation_p.R1163C|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1471C|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1163C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1471	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				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)				AGCCATTGATCGCAGTGCCTT	0.448																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(4411-4413)Cgc>Tgc		phospholipase C, epsilon 1							134.0	132.0	132.0					10																	96030264		2006	4176	6182	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.chr10:96030264C>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.4411C>T	10.37:g.96030264C>T	ENSP00000360431:p.Arg1471Cys					PLCE1_ENST00000371375.1_Missense_Mutation_p.R1163C|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1163C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1471C	p.R1471C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			18	5045	+		Colorectal(252;0.0458)	1471			PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.4411C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689162	0.88735	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.48	5.48	0.80851	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.75393	-0.3333	10	0.87932	D	0	.	19.3147	0.94207	0.0:1.0:0.0:0.0	.	1455;1163;1471	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	1471;1471;1163;1163	ENSP00000260766:R1471C;ENSP00000360431:R1471C;ENSP00000360438:R1163C;ENSP00000360426:R1163C	ENSP00000260766:R1471C	R	+	1	0	PLCE1	96020254	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.942000	0.70203	2.735000	0.93741	0.557000	0.71058	CGC		0.448	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		32	66	0	0	0	1	0	32	66				
SEMA4G	57715	broad.mit.edu	37	10	102739907	102739907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102739907G>A	ENST00000370250.4	+	10	1530	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G386D|SEMA4G_ENST00000210633.3_Missense_Mutation_p.G386D|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	386	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CGCAGCCAAGGCTACAATTCA	0.602																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1156-1158)gGc>gAc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							136.0	101.0	113.0					10																	102739907		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102739907G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1157G>A	10.37:g.102739907G>A	ENSP00000359270:p.Gly386Asp					SEMA4G_ENST00000370250.4_Missense_Mutation_p.G386D|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G386D|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron	p.G386D			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	10	1235	+		Colorectal(252;0.234)	386			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.1157G>A		.	.	.	.	.	.	.	.	.	.	G	19.49	3.836694	0.71373	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.100571	0.64402	D	0.000002	T	0.54095	0.1837	M	0.64080	1.96	0.49213	D	0.999763	D;D;D	0.89917	1.0;0.999;0.982	D;D;P	0.83275	0.974;0.996;0.82	T	0.53479	-0.8433	10	0.49607	T	0.09	.	17.5741	0.87943	0.0:0.0:1.0:0.0	.	386;386;386	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	D	386	ENSP00000428896:G386D;ENSP00000359270:G386D;ENSP00000430175:G386D;ENSP00000210633:G386D	ENSP00000210633:G386D	G	+	2	0	SEMA4G	102729897	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.951000	0.63610	2.405000	0.81733	0.484000	0.47621	GGC		0.602	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			25	29	0	0	0	1	0	25	29				
PKHD1	5314	broad.mit.edu	37	6	51751940	51751940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51751940G>A	ENST00000371117.3	-	44	7375	c.7100C>T	c.(7099-7101)tCt>tTt	p.S2367F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S2367F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2367					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGTACAAGAATGTGCAAT	0.413																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7099-7101)tCt>tTt		polycystic kidney and hepatic disease 1 (autosomal recessive)							136.0	119.0	125.0					6																	51751940		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51751940G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7100C>T	6.37:g.51751940G>A	ENSP00000360158:p.Ser2367Phe					PKHD1_ENST00000340994.4_Missense_Mutation_p.S2367F	p.S2367F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			44	7375	-	Lung NSC(77;0.0605)		2367					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7100C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782626	0.31502	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80123	-1.34;-1.34	5.8	4.04	0.47022	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.071492	0.64402	N	0.000013	T	0.75860	0.3907	M	0.86502	2.82	0.32596	N	0.526568	B;B;B	0.33583	0.413;0.418;0.203	B;B;B	0.38616	0.277;0.198;0.148	T	0.76055	-0.3099	10	0.87932	D	0	.	10.032	0.42107	0.1544:0.0:0.8456:0.0	.	2367;2367;2367	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	2367	ENSP00000360158:S2367F;ENSP00000341097:S2367F	ENSP00000341097:S2367F	S	-	2	0	PKHD1	51859899	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.895000	0.39778	0.813000	0.34350	0.655000	0.94253	TCT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	40	0	0	0	1	0	11	40				
HDAC2	3066	broad.mit.edu	37	6	114267236	114267236	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267236G>A	ENST00000519065.1	-	9	1294	c.918C>T	c.(916-918)atC>atT	p.I306I	HDAC2_ENST00000398283.2_Silent_p.I400I|HDAC2_ENST00000519108.1_Silent_p.I276I|HDAC2_ENST00000368632.2_Silent_p.I276I			Q92769	HDAC2_HUMAN	histone deacetylase 2	306	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CAACATTACGGATTGTGTAGC	0.378																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(916-918)atC>atT		histone deacetylase 2	Vorinostat(DB02546)						149.0	144.0	146.0					6																	114267236		1951	4131	6082	SO:0001819	synonymous_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114267236G>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.918C>T	6.37:g.114267236G>A						HDAC2_ENST00000398283.2_Silent_p.I400I|HDAC2_ENST00000519108.1_Silent_p.I276I|HDAC2_ENST00000368632.2_Silent_p.I276I	p.I306I			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1294	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	306			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	ENST00000519065.1	37	c.918C>T	CCDS43493.2																																																																																				0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			51	38	0	0	0	1	0	51	38				
DYNC1I1	1780	broad.mit.edu	37	7	95606909	95606909	+	Silent	SNP	G	G	A	rs150145925		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:95606909G>A	ENST00000324972.6	+	7	820	c.627G>A	c.(625-627)aaG>aaA	p.K209K	DYNC1I1_ENST00000457059.1_Silent_p.K192K|DYNC1I1_ENST00000437599.1_Silent_p.K189K|DYNC1I1_ENST00000447467.2_Silent_p.K192K|DYNC1I1_ENST00000359388.4_Silent_p.K172K|DYNC1I1_ENST00000537881.1_Silent_p.K172K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	209					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGAAGTGAAGGAAGGTATGA	0.328																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(625-627)aaG>aaA		dynein, cytoplasmic 1, intermediate chain 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	72.0	73.0	73.0		576,516,627	1.9	1.0	7	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DYNC1I1	NM_001135556.1,NM_001135557.1,NM_004411.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	192/629,172/609,209/646	95606909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95606909G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.627G>A	7.37:g.95606909G>A						DYNC1I1_ENST00000437599.1_Silent_p.K189K|DYNC1I1_ENST00000447467.2_Silent_p.K192K|DYNC1I1_ENST00000457059.1_Silent_p.K192K|DYNC1I1_ENST00000537881.1_Silent_p.K172K|DYNC1I1_ENST00000359388.4_Silent_p.K172K	p.K209K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		7	820	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		209					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.627G>A	CCDS5644.1																																																																																				0.328	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		21	24	0	0	0	1	0	21	24				
SYTL4	94121	broad.mit.edu	37	X	99956598	99956598	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:99956598C>T	ENST00000372989.1	-	5	513	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	SYTL4_ENST00000263033.5_Missense_Mutation_p.R61Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61Q|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000372981.1_Missense_Mutation_p.R61Q	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	61	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGCACAGGTCCGATCACTGTA	0.537																																						ENST00000372981.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(181-183)cGg>cAg		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						79.0	73.0	75.0					X																	99956598		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956598C>T		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.182G>A	X.37:g.99956598C>T	ENSP00000362080:p.Arg61Gln					SYTL4_ENST00000372989.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61Q|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61Q	p.R61Q			Q96C24	SYTL4_HUMAN			3	368	-			61			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.182G>A	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718048	0.89205	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.01	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.112956	0.64402	D	0.000010	D	0.89248	0.6661	M	0.86953	2.85	0.39398	D	0.966541	D;D	0.89917	1.0;0.998	D;P	0.69824	0.966;0.875	D	0.91320	0.5081	9	.	.	.	-4.742	17.3701	0.87374	0.0:1.0:0.0:0.0	.	61;61	Q96C24-2;Q96C24	.;SYTL4_HUMAN	Q	61	ENSP00000362080:R61Q;ENSP00000390252:R61Q;ENSP00000403556:R61Q;ENSP00000276141:R61Q;ENSP00000263033:R61Q;ENSP00000362072:R61Q	.	R	-	2	0	SYTL4	99843254	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	3.566000	0.53805	2.215000	0.71742	0.600000	0.82982	CGG		0.537	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737		47	70	0	0	0	1	0	47	70				
AMMECR1	9949	broad.mit.edu	37	X	109560968	109560968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:109560968G>A	ENST00000262844.5	-	1	499	c.332C>T	c.(331-333)tCg>tTg	p.S111L	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S111L|AMMECR1_ENST00000496695.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	111	Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGGCGGACGATGAGGAGGG	0.657																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(331-333)tCg>tTg		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1							27.0	25.0	25.0					X																	109560968		2198	4297	6495	SO:0001583	missense	9949							g.chrX:109560968G>A	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.332C>T	X.37:g.109560968G>A	ENSP00000262844:p.Ser111Leu					AMMECR1_ENST00000496695.1_5'UTR|AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S111L	p.S111L	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	499	-			111			Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.332C>T	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	g	8.180	0.793574	0.16327	.	.	ENSG00000101935	ENST00000262844;ENST00000372059	.	.	.	3.93	3.06	0.35304	.	0.407187	0.18535	N	0.138397	T	0.24392	0.0591	N	0.03608	-0.345	0.80722	D	1	B;B	0.22604	0.072;0.012	B;B	0.14578	0.011;0.003	T	0.03863	-1.0997	8	.	.	.	-3.54	8.2634	0.31799	0.1219:0.0:0.8781:0.0	.	111;111	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	L	111	.	.	S	-	2	0	AMMECR1	109447624	.	.	0.490000	0.27465	0.845000	0.48019	.	.	0.621000	0.30232	0.271000	0.19318	TCG		0.657	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			9	8	0	0	0	1	0	9	8				
ZNF721	170960	broad.mit.edu	37	4	436842	436842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:436842G>A	ENST00000338977.5	-	2	1426	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.P472S			Q8TF20	ZN721_HUMAN	zinc finger protein 721	460					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CATTTGTAGGGTTTCTTTCCA	0.368																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1378-1380)Ccc>Tcc		zinc finger protein 721							60.0	64.0	63.0					4																	436842		2055	4234	6289	SO:0001583	missense	170960							g.chr4:436842G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1378C>T	4.37:g.436842G>A	ENSP00000340524:p.Pro460Ser					ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.P472S|ZNF721_ENST00000507078.1_Intron	p.P460S							2	1426	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1378C>T		.	.	.	.	.	.	.	.	.	.	G	11.95	1.791595	0.31685	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.16743	2.32;2.32	0.71	-0.247	0.13019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28732	0.0712	L	0.54965	1.715	0.26917	N	0.966754	D;D;P	0.59357	0.985;0.957;0.947	D;P;P	0.66716	0.946;0.773;0.663	T	0.11690	-1.0577	9	0.56958	D	0.05	.	5.1114	0.14811	0.2467:0.0:0.7533:0.0	.	460;472;472	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	S	460;472	ENSP00000340524:P460S;ENSP00000428878:P472S	ENSP00000340524:P460S	P	-	1	0	ZNF721	426842	0.964000	0.33143	0.006000	0.13384	0.015000	0.08874	2.700000	0.47085	-0.118000	0.11851	-1.038000	0.02383	CCC		0.368	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		7	19	0	0	0	1	0	7	19				
CTBP2	1488	broad.mit.edu	37	10	126681372	126681372	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126681372G>A	ENST00000337195.5	-	10	1448	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L	CTBP2_ENST00000309035.6_Missense_Mutation_p.P890L|CTBP2_ENST00000531469.1_Missense_Mutation_p.P350L|CTBP2_ENST00000494626.2_Missense_Mutation_p.P350L|CTBP2_ENST00000411419.2_Missense_Mutation_p.P350L|CTBP2_ENST00000334808.6_Missense_Mutation_p.P418L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	350					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TAAGCTTTCTGGGATGCGACC	0.383											OREG0020609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2668-2670)cCa>cTa		C-terminal binding protein 2							38.0	35.0	36.0					10																	126681372		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126681372G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1049C>T	10.37:g.126681372G>A	ENSP00000338615:p.Pro350Leu		OREG0020609	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1551	CTBP2_ENST00000334808.6_Missense_Mutation_p.P418L|CTBP2_ENST00000494626.2_Missense_Mutation_p.P350L|CTBP2_ENST00000531469.1_Missense_Mutation_p.P350L|CTBP2_ENST00000411419.2_Missense_Mutation_p.P350L|CTBP2_ENST00000337195.5_Missense_Mutation_p.P350L	p.P890L	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	8	2799	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	350					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.2669C>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370524	0.82573	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D;D;D	0.85339	-1.92;-1.97;-1.97;-1.92;-1.92;-1.92	4.81	4.81	0.61882	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.91859	0.5498	10	0.72032	D	0.01	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	350;890;418	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	L	350;890;418;350;350;350	ENSP00000338615:P350L;ENSP00000311825:P890L;ENSP00000357816:P418L;ENSP00000434630:P350L;ENSP00000436285:P350L;ENSP00000410474:P350L	ENSP00000311825:P890L	P	-	2	0	CTBP2	126671362	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.122000	0.94380	2.504000	0.84457	0.563000	0.77884	CCA		0.383	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	12	0	0	0	1	0	5	12				
GPR39	2863	broad.mit.edu	37	2	133403028	133403028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133403028G>A	ENST00000329321.3	+	2	1680	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	404					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAAGGAGAACTGAGAAG	0.602																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1210-1212)aGa>aAa		G protein-coupled receptor 39							47.0	52.0	50.0					2																	133403028		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133403028G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1211G>A	2.37:g.133403028G>A	ENSP00000327417:p.Arg404Lys					LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.R404K	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1680	+			404					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1211G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195023	0.38806	.	.	ENSG00000183840	ENST00000329321	T	0.63096	-0.02	4.9	-0.176	0.13311	.	6.577830	0.00481	N	0.000138	T	0.58821	0.2149	M	0.66939	2.045	0.09310	N	1	B	0.29716	0.255	B	0.24394	0.053	T	0.27123	-1.0083	10	0.29301	T	0.29	.	7.609	0.28118	0.209:0.4837:0.3074:0.0	.	404	O43194	GPR39_HUMAN	K	404	ENSP00000327417:R404K	ENSP00000327417:R404K	R	+	2	0	GPR39	133119498	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-0.060000	0.11712	-0.224000	0.09928	-0.858000	0.03015	AGA		0.602	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			18	53	0	0	0	1	0	18	53				
SCN7A	6332	broad.mit.edu	37	2	167301368	167301368	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:167301368G>A	ENST00000409855.1	-	12	1656	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	510					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATATGATAAGGAAAAGATCAG	0.333																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1528-1530)ttC>ttT		sodium channel, voltage-gated, type VII, alpha subunit							63.0	61.0	62.0					2																	167301368		1823	4086	5909	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167301368G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1530C>T	2.37:g.167301368G>A							p.F510F	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			12	1656	-			510						Silent	SNP	ENST00000409855.1	37	c.1530C>T	CCDS46442.1																																																																																				0.333	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			7	13	0	0	0	1	0	7	13				
OR5P3	120066	broad.mit.edu	37	11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	rs117218570		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19120	0.001		0.0	False		,,,				2504	0.0					ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily P, member 3							138.0	132.0	134.0					11																	7847156		2185	4296	6481	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847156G>A	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.364C>T	11.37:g.7847156G>A	ENSP00000332068:p.Arg122Cys					RP11-35J10.5_ENST00000527565.1_lincRNA	p.R122C	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	363	-			122					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.364C>T	CCDS7783.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.15	1.851091	0.32699	.	.	ENSG00000182334	ENST00000328375	T	0.77358	-1.09	5.28	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.495306	0.17510	N	0.171680	T	0.71829	0.3386	M	0.77712	2.385	0.40907	D	0.984205	P	0.41345	0.746	B	0.34138	0.176	T	0.72846	-0.4169	10	0.72032	D	0.01	-18.8109	6.7708	0.23593	0.1574:0.0:0.701:0.1415	.	122	Q8WZ94	OR5P3_HUMAN	C	122	ENSP00000332068:R122C	ENSP00000332068:R122C	R	-	1	0	OR5P3	7803732	0.999000	0.42202	0.995000	0.50966	0.176000	0.22953	1.895000	0.39778	0.816000	0.34421	0.644000	0.83932	CGC		0.557	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		41	64	0	0	0	1	0	41	64				
MICALCL	84953	broad.mit.edu	37	11	12315195	12315195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315195G>A	ENST00000256186.2	+	3	508	c.217G>A	c.(217-219)Gga>Aga	p.G73R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CGTAGCCCAAGGAGCACCCAG	0.587																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(217-219)Gga>Aga		MICAL C-terminal like							145.0	152.0	150.0					11																	12315195		1946	4136	6082	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315195G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.217G>A	11.37:g.12315195G>A	ENSP00000256186:p.Gly73Arg						p.G73R	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	508	+			73			Interaction with MAPK1 (By similarity).		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.217G>A	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179351	0.78564	.	.	ENSG00000133808	ENST00000256186	T	0.08458	3.09	5.71	5.71	0.89125	.	0.159374	0.29594	N	0.011716	T	0.18045	0.0433	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.07252	-1.0782	10	0.36615	T	0.2	.	15.3443	0.74324	0.0:0.0:1.0:0.0	.	73	Q6ZW33	MICLK_HUMAN	R	73	ENSP00000256186:G73R	ENSP00000256186:G73R	G	+	1	0	MICALCL	12271771	0.655000	0.27376	0.027000	0.17364	0.232000	0.25224	5.400000	0.66320	2.696000	0.92011	0.655000	0.94253	GGA		0.587	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		56	110	0	0	0	1	0	56	110				
LRIT2	340745	broad.mit.edu	37	10	85984392	85984392	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85984392G>A	ENST00000372113.4	-	2	594	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	LRIT2_ENST00000538192.1_Silent_p.L197L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	197						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGTCATGCAGGGCCACCACC	0.547																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(589-591)Ctg>Ttg		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							58.0	56.0	57.0					10																	85984392		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85984392G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.589C>T	10.37:g.85984392G>A						LRIT2_ENST00000538192.1_Silent_p.L197L	p.L197L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	594	-			197					B7ZME6	Silent	SNP	ENST00000372113.4	37	c.589C>T	CCDS31234.1																																																																																				0.547	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		21	37	0	0	0	1	0	21	37				
PKD1L1	168507	broad.mit.edu	37	7	47898282	47898282	+	Missense_Mutation	SNP	C	C	T	rs368504275		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47898282C>T	ENST00000289672.2	-	27	4401	c.4351G>A	c.(4351-4353)Gat>Aat	p.D1451N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1451	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACAATAAATCTGAGATGACT	0.388																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4351-4353)Gat>Aat		polycystic kidney disease 1 like 1							175.0	174.0	174.0					7																	47898282		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898282C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4351G>A	7.37:g.47898282C>T	ENSP00000289672:p.Asp1451Asn						p.D1451N	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4401	-			1451			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4351G>A	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905018	0.33628	.	.	ENSG00000158683	ENST00000289672	T	0.25749	1.78	5.03	0.747	0.18371	Egg jelly receptor, REJ-like (1);	0.328184	0.25352	N	0.031288	T	0.19167	0.0460	M	0.66939	2.045	0.09310	N	1	P	0.39576	0.679	B	0.34590	0.186	T	0.11131	-1.0600	10	0.27785	T	0.31	-8.3249	4.0867	0.09950	0.1487:0.4723:0.2905:0.0885	.	1451	Q8TDX9	PK1L1_HUMAN	N	1451	ENSP00000289672:D1451N	ENSP00000289672:D1451N	D	-	1	0	PKD1L1	47864807	0.000000	0.05858	0.010000	0.14722	0.005000	0.04900	-0.162000	0.10012	0.219000	0.20840	-0.156000	0.13503	GAT		0.388	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		34	75	0	0	0	1	0	34	75				
PAK7	57144	broad.mit.edu	37	20	9560857	9560857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:9560857G>A	ENST00000378429.3	-	5	1471	c.925C>T	c.(925-927)Caa>Taa	p.Q309*	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	309	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGTGTCCTTGGGGATGGGTT	0.552																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(925-927)Caa>Taa		p21 protein (Cdc42/Rac)-activated kinase 7							333.0	262.0	286.0					20																	9560857		2203	4300	6503	SO:0001587	stop_gained	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560857G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.925C>T	20.37:g.9560857G>A	ENSP00000367686:p.Gln309*					PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309*	p.Q309*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1471	-			309			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	c.925C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.766102	0.98945	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.67	5.67	0.87782	.	0.053835	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7735	0.96382	0.0:0.0:1.0:0.0	.	.	.	.	X	309;309;309;257	.	.	Q	-	1	0	PAK7	9508857	1.000000	0.71417	0.882000	0.34594	0.998000	0.95712	9.480000	0.97931	2.687000	0.91594	0.544000	0.68410	CAA		0.552	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			58	130	0	0	0	1	0	58	130				
LRP2	4036	broad.mit.edu	37	2	170150732	170150732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:170150732C>T	ENST00000263816.3	-	6	863	c.578G>A	c.(577-579)gGa>gAa	p.G193E	LRP2_ENST00000443831.1_Missense_Mutation_p.G193E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	193	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GATACACTCTCCATTGCCACA	0.433																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(577-579)gGa>gAa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						170.0	143.0	152.0					2																	170150732		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170150732C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.578G>A	2.37:g.170150732C>T	ENSP00000263816:p.Gly193Glu					LRP2_ENST00000443831.1_Missense_Mutation_p.G193E	p.G193E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	6	863	-			193			LDL-receptor class A 5.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.578G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994544	0.74703	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.96136	-3.92;-3.92	5.47	4.59	0.56863	.	0.057378	0.64402	N	0.000002	D	0.97433	0.9160	M	0.79926	2.475	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97512	1.0067	9	.	.	.	.	13.9579	0.64162	0.0:0.926:0.0:0.074	.	193;193	E9PC35;P98164	.;LRP2_HUMAN	E	193	ENSP00000263816:G193E;ENSP00000409813:G193E	.	G	-	2	0	LRP2	169858978	1.000000	0.71417	0.097000	0.21041	0.031000	0.12232	4.611000	0.61162	1.426000	0.47256	0.655000	0.94253	GGA		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		45	63	0	0	0	1	0	45	63				
SMARCA2	6595	broad.mit.edu	37	9	2039700	2039700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:2039700C>T	ENST00000382203.1	+	4	799	c.590C>T	c.(589-591)cCc>cTc	p.P197L	SMARCA2_ENST00000382194.1_Missense_Mutation_p.P197L|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	197	QLQ. {ECO:0000255|PROSITE- ProRule:PRU01001}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGAGGCCAGCCCCTCCCCGAA	0.577																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(589-591)cCc>cTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							29.0	31.0	30.0					9																	2039700		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039700C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.590C>T	9.37:g.2039700C>T	ENSP00000371638:p.Pro197Leu					SMARCA2_ENST00000349721.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P197L	p.P197L			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	799	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	197					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.590C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753243	0.89753	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.91295	-2.74;-2.82;0.4;-2.74;-2.82	5.6	4.68	0.58851	Glutamine-Leucine-Glutamine, QLQ (2);	0.201232	0.44097	D	0.000490	D	0.95101	0.8413	M	0.81497	2.545	0.80722	D	1	D;D	0.63880	0.991;0.993	D;D	0.70227	0.946;0.968	D	0.95583	0.8648	10	0.87932	D	0	-11.7573	15.463	0.75373	0.1524:0.8476:0.0:0.0	.	197;197	P51531-2;P51531	.;SMCA2_HUMAN	L	197	ENSP00000265773:P197L;ENSP00000349788:P197L;ENSP00000392081:P197L;ENSP00000371638:P197L;ENSP00000371629:P197L	ENSP00000265773:P197L	P	+	2	0	SMARCA2	2029700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.081000	0.71309	1.298000	0.44778	0.655000	0.94253	CCC		0.577	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		42	8	0	0	0	1	0	42	8				
MTUS2	23281	broad.mit.edu	37	13	29599806	29599806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29599806G>A	ENST00000431530.3	+	1	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	324						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1000-1002)gGa>gAa		microtubule associated tumor suppressor candidate 2							49.0	51.0	50.0					13																	29599806		1962	4143	6105	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599806G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1001G>A	13.37:g.29599806G>A	ENSP00000392057:p.Gly334Glu						p.G334E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1059	+			324					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1001G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246543	0.22796	.	.	ENSG00000132938	ENST00000431530	T	0.11063	2.81	5.47	-0.0459	0.13849	.	2.907410	0.01056	N	0.004543	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	B	0.23442	0.085	B	0.21917	0.037	T	0.29212	-1.0019	9	.	.	.	.	1.7737	0.03017	0.1382:0.1642:0.1362:0.5614	.	324	Q5JR59	MTUS2_HUMAN	E	334	ENSP00000392057:G334E	.	G	+	2	0	MTUS2	28497806	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.321000	0.19558	0.382000	0.24878	-0.262000	0.10625	GGA		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		19	31	0	0	0	1	0	19	31				
TDRD6	221400	broad.mit.edu	37	6	46658596	46658596	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46658596G>A	ENST00000316081.6	+	1	2731	c.2731G>A	c.(2731-2733)Gat>Aat	p.D911N	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.D911N	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	911					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGAATTTATAGATAATGCATG	0.333																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2731-2733)Gat>Aat		tudor domain containing 6							61.0	68.0	66.0					6																	46658596		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658596G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2731G>A	6.37:g.46658596G>A	ENSP00000346065:p.Asp911Asn					TDRD6_ENST00000316081.6_Missense_Mutation_p.D911N	p.D911N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2985	+			911					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2731G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	2.004	-0.428674	0.04701	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15017	2.46;2.46	5.74	1.56	0.23342	.	1.346160	0.04661	N	0.408860	T	0.06416	0.0165	M	0.62723	1.935	0.09310	N	1	B;B	0.23650	0.089;0.054	B;B	0.31245	0.126;0.059	T	0.41645	-0.9497	10	0.17369	T	0.5	-2.688	3.8354	0.08891	0.1558:0.1257:0.5885:0.13	.	911;911	F5H5M3;O60522	.;TDRD6_HUMAN	N	911	ENSP00000443299:D911N;ENSP00000346065:D911N	ENSP00000346065:D911N	D	+	1	0	TDRD6	46766555	0.968000	0.33430	0.012000	0.15200	0.050000	0.14768	2.625000	0.46452	-0.013000	0.14199	-0.355000	0.07637	GAT		0.333	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		40	34	0	0	0	1	0	40	34				
ZNF451	26036	broad.mit.edu	37	6	57012688	57012688	+	Missense_Mutation	SNP	C	C	T	rs199784598		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:57012688C>T	ENST00000370706.4	+	10	2049	c.1805C>T	c.(1804-1806)cCg>cTg	p.P602L	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATAGTTCTCCGAGGGGTAAA	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20939	0.0		0.0	False		,,,				2504	0.0					ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1804-1806)cCg>cTg		zinc finger protein 451							102.0	101.0	102.0					6																	57012688		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012688C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1805C>T	6.37:g.57012688C>T	ENSP00000359740:p.Pro602Leu					RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	p.P602L	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2049	+	Lung NSC(77;0.145)		602					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1805C>T	CCDS43477.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.045	0.194067	0.09599	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18810	2.19;2.19;2.19	5.41	5.41	0.78517	.	0.330041	0.32343	N	0.006231	T	0.07458	0.0188	L	0.57536	1.79	0.18873	N	0.999981	B;P;B;P	0.42375	0.325;0.778;0.263;0.778	B;B;B;B	0.31751	0.054;0.135;0.014;0.135	T	0.16394	-1.0404	10	0.33940	T	0.23	-6.2371	8.1156	0.30942	0.0:0.734:0.1501:0.1159	.	602;602;602;602	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	L	602	ENSP00000359740:P602L;ENSP00000350083:P602L;ENSP00000421645:P602L	ENSP00000350083:P602L	P	+	2	0	ZNF451	57120647	0.000000	0.05858	0.392000	0.26245	0.202000	0.24057	0.800000	0.27042	2.529000	0.85273	0.650000	0.86243	CCG		0.408	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		50	55	0	0	0	1	0	50	55				
SERPINA12	145264	broad.mit.edu	37	14	94962942	94962942	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94962942C>T	ENST00000341228.2	-	4	1468	c.673G>A	c.(673-675)Gag>Aag	p.E225K	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E225K	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	225					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAATCTTCCTCTTTAGTTACA	0.403																																						ENST00000341228.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(673-675)Gag>Aag		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12							94.0	94.0	94.0					14																	94962942		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962942C>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.673G>A	14.37:g.94962942C>T	ENSP00000342109:p.Glu225Lys					SERPINA12_ENST00000556881.1_Missense_Mutation_p.E225K	p.E225K	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1468	-			225						Missense_Mutation	SNP	ENST00000341228.2	37	c.673G>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401487	0.42613	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.83914	-1.78;-1.78	5.6	3.71	0.42584	Serpin domain (3);	0.197870	0.35151	N	0.003414	T	0.74989	0.3789	L	0.37630	1.12	0.26834	N	0.968528	B	0.24882	0.113	B	0.28305	0.088	T	0.64643	-0.6359	10	0.41790	T	0.15	.	10.0157	0.42014	0.0:0.6642:0.2604:0.0755	.	225	Q8IW75	SPA12_HUMAN	K	225	ENSP00000451738:E225K;ENSP00000342109:E225K	ENSP00000342109:E225K	E	-	1	0	SERPINA12	94032695	0.001000	0.12720	0.829000	0.32907	0.806000	0.45545	0.464000	0.21988	0.658000	0.30925	0.561000	0.74099	GAG		0.403	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		27	51	0	0	0	1	0	27	51				
ARHGAP4	393	broad.mit.edu	37	X	153178233	153178233	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153178233A>T	ENST00000350060.5	-	12	1504	c.1463T>A	c.(1462-1464)tTc>tAc	p.F488Y	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.F528Y|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.F465Y|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.F310Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.F467Y|ARHGAP4_ENST00000467421.1_5'Flank	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	488					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTTCTGGAATTTTCTCTG	0.592																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1582-1584)tTc>tAc		Rho GTPase activating protein 4							67.0	72.0	70.0					X																	153178233		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178233A>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1463T>A	X.37:g.153178233A>T	ENSP00000203786:p.Phe488Tyr					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.F465Y|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.F310Y|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.F488Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.F467Y	p.F528Y	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			13	1640	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		488			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1583T>A	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.51|16.51	3.144290|3.144290	0.57044|0.57044	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.54479|.	0.57;0.57;0.57;0.57;0.57|.	5.46|5.46	3.12|3.12	0.35913|0.35913	.|.	0.646793|.	0.13765|.	N|.	0.364279|.	T|T	0.28200|0.28200	0.0696|0.0696	L|L	0.36672|0.36672	1.1|1.1	0.24615|0.24615	N|N	0.993706|0.993706	B;B|.	0.31290|.	0.318;0.318|.	B;B|.	0.31290|.	0.127;0.081|.	T|T	0.19910|0.19910	-1.0291|-1.0291	10|5	0.02654|.	T|.	1|.	.|.	4.4365|4.4365	0.11552|0.11552	0.5883:0.0:0.4117:0.0|0.5883:0.0:0.4117:0.0	.|.	528;488|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	Y|T	310;528;488;467;465|3	ENSP00000377322:F310Y;ENSP00000359045:F528Y;ENSP00000203786:F488Y;ENSP00000359033:F467Y;ENSP00000444169:F465Y|.	ENSP00000203786:F488Y|.	F|S	-|-	2|1	0|0	ARHGAP4|ARHGAP4	152831427|152831427	0.879000|0.879000	0.30193|0.30193	0.524000|0.524000	0.27887|0.27887	0.977000|0.977000	0.68977|0.68977	1.885000|1.885000	0.39678|0.39678	0.739000|0.739000	0.32628|0.32628	0.427000|0.427000	0.28365|0.28365	TTC|TCC		0.592	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		63	88	0	0	0	1	0	63	88				
NOS3	4846	broad.mit.edu	37	7	150704269	150704269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150704269G>A	ENST00000297494.3	+	17	2374	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	NOS3_ENST00000461406.1_Missense_Mutation_p.E467K	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACGGCTGGAGGAACTGGGCGG	0.701																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2017-2019)Gaa>Aaa		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						55.0	63.0	60.0					7																	150704269		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704269G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2017G>A	7.37:g.150704269G>A	ENSP00000297494:p.Glu673Lys					NOS3_ENST00000461406.1_Missense_Mutation_p.E467K	p.E673K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2374	+	all_neural(206;0.219)		673			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.2017G>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314047	0.81358	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	5.13	5.13	0.70059	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000011	T	0.57140	0.2033	L	0.55481	1.735	0.80722	D	1	B;B	0.22800	0.075;0.035	B;B	0.28385	0.089;0.063	T	0.57763	-0.7755	10	0.59425	D	0.04	-3.38	16.4566	0.84019	0.0:0.0:1.0:0.0	.	467;673	E7ESA7;P29474	.;NOS3_HUMAN	K	673;467	ENSP00000297494:E673K;ENSP00000417143:E467K	ENSP00000297494:E673K	E	+	1	0	NOS3	150335202	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.946000	0.87746	2.548000	0.85928	0.561000	0.74099	GAA		0.701	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		37	82	0	0	0	1	0	37	82				
DAB2	1601	broad.mit.edu	37	5	39376875	39376875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:39376875C>T	ENST00000320816.6	-	12	2481	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	DAB2_ENST00000509337.1_Missense_Mutation_p.E651K|DAB2_ENST00000339788.6_Missense_Mutation_p.E454K|DAB2_ENST00000545653.1_Missense_Mutation_p.E651K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	672	Required for interaction with MYO6. {ECO:0000250}.|Sufficient for interaction with GRB2. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAAGTCTGCTCTCCCTTCCGC	0.488											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(2014-2016)Gag>Aag		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							65.0	65.0	65.0					5																	39376875		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39376875C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2014G>A	5.37:g.39376875C>T	ENSP00000313391:p.Glu672Lys		OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	DAB2_ENST00000339788.6_Missense_Mutation_p.E454K|DAB2_ENST00000545653.1_Missense_Mutation_p.E651K|DAB2_ENST00000509337.1_Missense_Mutation_p.E651K	p.E672K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		12	2481	-	all_lung(31;0.000197)		672			Required for interaction with MYO6 (By similarity).		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.2014G>A	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393660	0.96009	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.55052	0.61;0.57;0.54;0.54	5.09	5.09	0.68999	.	0.708276	0.13857	N	0.357946	T	0.72070	0.3415	M	0.71581	2.175	0.54753	D	0.999983	P;D	0.58620	0.943;0.983	P;D	0.63283	0.497;0.913	T	0.73836	-0.3857	10	0.72032	D	0.01	-5.208	18.5286	0.90983	0.0:1.0:0.0:0.0	.	672;651	P98082;P98082-3	DAB2_HUMAN;.	K	672;454;651;651	ENSP00000313391:E672K;ENSP00000345508:E454K;ENSP00000439919:E651K;ENSP00000426245:E651K	ENSP00000313391:E672K	E	-	1	0	DAB2	39412632	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.410000	0.66381	2.366000	0.80165	0.655000	0.94253	GAG		0.488	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		20	26	0	0	0	1	0	20	26				
HOXB13	10481	broad.mit.edu	37	17	46804277	46804277	+	Missense_Mutation	SNP	C	C	T	rs372121677		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46804277C>T	ENST00000290295.7	-	2	1314	c.730G>A	c.(730-732)Gac>Aac	p.D244N	PRAC2_ENST00000422730.2_RNA|PRAC2_ENST00000432056.1_RNA|MIR3185_ENST00000583892.1_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	244					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGCCTCTTGTCCTTGGTGATG	0.587																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(730-732)Gac>Aac		homeobox B13		C	ASN/ASP	0,4406		0,0,2203	117.0	110.0	112.0		730	4.6	1.0	17		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	HOXB13	NM_006361.5	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	244/285	46804277	1,13005	2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46804277C>T	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.730G>A	17.37:g.46804277C>T	ENSP00000290295:p.Asp244Asn						p.D244N	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			2	1314	-			244					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.730G>A	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386026	0.95967	0.0	1.16E-4	ENSG00000159184	ENST00000290295	D	0.96168	-3.93	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.050523	0.85682	D	0.000000	D	0.96182	0.8755	L	0.37507	1.11	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.97045	0.9760	10	0.87932	D	0	.	17.2675	0.87092	0.0:1.0:0.0:0.0	.	244	Q92826	HXB13_HUMAN	N	244	ENSP00000290295:D244N	ENSP00000290295:D244N	D	-	1	0	HOXB13	44159276	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.651000	0.83577	2.394000	0.81467	0.462000	0.41574	GAC		0.587	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		41	78	0	0	0	1	0	41	78				
KIAA1549L	25758	broad.mit.edu	37	11	33564819	33564819	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:33564819G>A	ENST00000321505.4	+	1	999	c.819G>A	c.(817-819)ggG>ggA	p.G273G	KIAA1549L_ENST00000389726.3_Silent_p.G273G|KIAA1549L_ENST00000265654.5_Silent_p.G273G			Q6ZVL6	K154L_HUMAN	KIAA1549-like	273						integral component of membrane (GO:0016021)											CCATTTTAGGGAAGAATGAAG	0.438											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(817-819)ggG>ggA		KIAA1549-like							124.0	119.0	120.0					11																	33564819		1904	4130	6034	SO:0001819	synonymous_variant	25758							g.chr11:33564819G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.819G>A	11.37:g.33564819G>A			OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Silent_p.G273G|KIAA1549L_ENST00000389726.3_Silent_p.G273G	p.G273G							1	999	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.819G>A	CCDS44565.2																																																																																				0.438	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		46	70	0	0	0	1	0	46	70				
SPNS2	124976	broad.mit.edu	37	17	4439593	4439593	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439593C>T	ENST00000329078.3	+	11	1689	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTAAGGACTCCCCGCTCTGGG	0.642																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1477-1479)tcC>tcT		spinster homolog 2 (Drosophila)							92.0	79.0	83.0					17																	4439593		1568	3582	5150	SO:0001819	synonymous_variant	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4439593C>T	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1479C>T	17.37:g.4439593C>T							p.S493S	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			11	1689	+			493					B9A1T3	Silent	SNP	ENST00000329078.3	37	c.1479C>T	CCDS42237.1																																																																																				0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			20	50	0	0	0	1	0	20	50				
PPP1R3A	5506	broad.mit.edu	37	7	113558353	113558353	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:113558353C>T	ENST00000284601.3	-	1	767	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	233					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K233N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGTTCTTTCTTTTGACAAA	0.338																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.K233N(1)	large_intestine(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(697-699)aaG>aaA		protein phosphatase 1, regulatory subunit 3A							108.0	111.0	110.0					7																	113558353		2201	4298	6499	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113558353C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.699G>A	7.37:g.113558353C>T							p.K233K	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	767	-			233					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.699G>A	CCDS5759.1																																																																																				0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		49	100	0	0	0	1	0	49	100				
ACRBP	84519	broad.mit.edu	37	12	6752731	6752731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6752731C>T	ENST00000229243.2	-	6	1144	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	ACRBP_ENST00000414226.2_Missense_Mutation_p.E318K|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGGATCTCCTCCTCCATGTAC	0.557																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(1051-1053)Gag>Aag		acrosin binding protein							147.0	117.0	127.0					12																	6752731		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6752731C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1051G>A	12.37:g.6752731C>T	ENSP00000229243:p.Glu351Lys					ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E318K	p.E351K	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			6	1144	-			351						Missense_Mutation	SNP	ENST00000229243.2	37	c.1051G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974691	0.53720	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.47177	0.86;0.85	5.34	1.31	0.21738	.	0.660469	0.14454	N	0.318564	T	0.38957	0.1060	L	0.60455	1.87	0.22446	N	0.999091	B;B	0.27498	0.18;0.18	B;B	0.25405	0.06;0.06	T	0.32455	-0.9906	10	0.49607	T	0.09	-20.7691	5.7028	0.17891	0.0:0.6234:0.1411:0.2355	.	318;351	E7EP66;Q8NEB7	.;ACRBP_HUMAN	K	351;318	ENSP00000229243:E351K;ENSP00000402725:E318K	ENSP00000229243:E351K	E	-	1	0	ACRBP	6622992	0.149000	0.22717	0.718000	0.30602	0.997000	0.91878	0.427000	0.21379	0.646000	0.30693	0.561000	0.74099	GAG		0.557	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		37	58	0	0	0	1	0	37	58				
MYH15	22989	broad.mit.edu	37	3	108195336	108195336	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:108195336C>T	ENST00000273353.3	-	13	1257	c.1201G>A	c.(1201-1203)Ggc>Agc	p.G401S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	401	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGTTAATGCCCATGAGGAAA	0.398																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1201-1203)Ggc>Agc		myosin, heavy chain 15							75.0	70.0	71.0					3																	108195336		1907	4129	6036	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108195336C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1201G>A	3.37:g.108195336C>T	ENSP00000273353:p.Gly401Ser						p.G401S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			13	1257	-			401			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1201G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911266	0.52439	.	.	ENSG00000144821	ENST00000273353	D	0.89415	-2.51	5.54	1.8	0.24995	Myosin head, motor domain (2);	.	.	.	.	D	0.93674	0.7979	M	0.84585	2.705	0.42086	D	0.991276	D	0.89917	1.0	D	0.97110	1.0	D	0.91883	0.5517	9	0.54805	T	0.06	.	10.0688	0.42319	0.0:0.7343:0.0:0.2657	.	401	Q9Y2K3	MYH15_HUMAN	S	401	ENSP00000273353:G401S	ENSP00000273353:G401S	G	-	1	0	MYH15	109678026	0.991000	0.36638	0.746000	0.31095	0.235000	0.25334	1.941000	0.40233	0.047000	0.15862	-0.781000	0.03364	GGC		0.398	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		15	20	0	0	0	1	0	15	20				
RUNX1T1	862	broad.mit.edu	37	8	93017469	93017469	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:93017469C>T	ENST00000523629.1	-	6	1069	c.615G>A	c.(613-615)caG>caA	p.Q205Q	RUNX1T1_ENST00000265814.3_Silent_p.Q205Q|RUNX1T1_ENST00000422361.2_Silent_p.Q168Q|RUNX1T1_ENST00000518844.1_Silent_p.Q178Q|RUNX1T1_ENST00000396218.1_Silent_p.Q178Q|RUNX1T1_ENST00000520724.1_Silent_p.Q168Q|RUNX1T1_ENST00000360348.2_Silent_p.Q168Q|RUNX1T1_ENST00000521553.1_Silent_p.Q168Q|RUNX1T1_ENST00000436581.2_Silent_p.Q216Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	205	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGCAGGGTTCTGTTTGGCCA	0.562																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(613-615)caG>caA		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							156.0	123.0	134.0					8																	93017469		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93017469C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.615G>A	8.37:g.93017469C>T						RUNX1T1_ENST00000360348.2_Silent_p.Q168Q|RUNX1T1_ENST00000520724.1_Silent_p.Q168Q|RUNX1T1_ENST00000396218.1_Silent_p.Q178Q|RUNX1T1_ENST00000265814.3_Silent_p.Q205Q|RUNX1T1_ENST00000518844.1_Silent_p.Q178Q|RUNX1T1_ENST00000521553.1_Silent_p.Q168Q|RUNX1T1_ENST00000422361.2_Silent_p.Q168Q|RUNX1T1_ENST00000436581.2_Silent_p.Q216Q	p.Q205Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		6	1069	-			205			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.615G>A	CCDS6256.1																																																																																				0.562	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		36	36	0	0	0	1	0	36	36				
EHHADH	1962	broad.mit.edu	37	3	184910063	184910063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910063G>A	ENST00000231887.3	-	7	2198	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.P612L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TTCTTTCAGGGGAGGGTTTCC	0.453																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(2122-2124)cCc>cTc		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						72.0	78.0	76.0					3																	184910063		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910063G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2123C>T	3.37:g.184910063G>A	ENSP00000231887:p.Pro708Leu					EHHADH_ENST00000456310.1_Missense_Mutation_p.P612L	p.P708L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	2198	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		708					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.2123C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148972	0.78001	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.89123	-2.47;-2.47	5.91	5.91	0.95273	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	N	0.00483	-1.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82762	-0.0297	10	0.09843	T	0.71	-17.2227	20.2985	0.98592	0.0:0.0:1.0:0.0	.	708	Q08426	ECHP_HUMAN	L	708;612	ENSP00000231887:P708L;ENSP00000387746:P612L	ENSP00000231887:P708L	P	-	2	0	EHHADH	186392757	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	7.424000	0.80242	2.793000	0.96121	0.655000	0.94253	CCC		0.453	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			30	63	0	0	0	1	0	30	63				
IRF2BP1	26145	broad.mit.edu	37	19	46387762	46387762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:46387762G>A	ENST00000302165.3	-	1	1614	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTTCAGGGCGGCAATGGGCGA	0.721																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(1270-1272)gCc>gTc		interferon regulatory factor 2 binding protein 1							15.0	18.0	17.0					19																	46387762		2141	4173	6314	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387762G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1271C>T	19.37:g.46387762G>A	ENSP00000307265:p.Ala424Val						p.A424V	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1614	-		all_neural(266;0.113)|Ovarian(192;0.127)	424					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.1271C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710636	0.68730	.	.	ENSG00000170604	ENST00000302165	T	0.54675	0.56	4.85	4.85	0.62838	.	0.185227	0.35903	N	0.002906	T	0.40670	0.1126	L	0.28115	0.83	0.26139	N	0.980306	B	0.26081	0.141	B	0.15052	0.012	T	0.42649	-0.9439	10	0.59425	D	0.04	.	15.5158	0.75822	0.0:0.0:1.0:0.0	.	424	Q8IU81	I2BP1_HUMAN	V	424	ENSP00000307265:A424V	ENSP00000307265:A424V	A	-	2	0	IRF2BP1	51079602	0.998000	0.40836	0.791000	0.31998	0.939000	0.58152	8.899000	0.92544	2.499000	0.84300	0.655000	0.94253	GCC		0.721	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		17	22	0	0	0	1	0	17	22				
ABLIM1	3983	broad.mit.edu	37	10	116207689	116207689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116207689G>A	ENST00000277895.5	-	15	1782	c.1685C>T	c.(1684-1686)cCa>cTa	p.P562L	ABLIM1_ENST00000369252.4_Missense_Mutation_p.P502L|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P185L|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P502L|ABLIM1_ENST00000369266.3_Missense_Mutation_p.P239L	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	562					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCAATCTTTGGTGTCTCGCT	0.547																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1504-1506)cCa>cTa		actin binding LIM protein 1							134.0	112.0	120.0					10																	116207689		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116207689G>A	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1685C>T	10.37:g.116207689G>A	ENSP00000277895:p.Pro562Leu					ABLIM1_ENST00000369266.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000277895.5_Missense_Mutation_p.P562L|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P185L|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P502L	p.P502L	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	15	1806	-		Colorectal(252;0.0373)|Breast(234;0.231)	562					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1505C>T	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.281150|5.281150	0.95489|0.95489	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000277895;ENST00000369253|ENST00000392955	T;T;T;T|.	0.30714|.	1.52;1.52;1.52;1.52|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.124879|.	0.56097|.	D|.	0.000026|.	T|.	0.77785|.	0.4182|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;B;B;P;P;P;P|.	0.44429|.	0.835;0.354;0.243;0.532;0.615;0.57;0.835|.	B;B;B;B;B;B;P|.	0.48227|.	0.407;0.101;0.065;0.431;0.231;0.101;0.571|.	T|.	0.75703|.	-0.3225|.	10|.	0.33141|.	T|.	0.24|.	.|.	20.126|20.126	0.97982|0.97982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	502;530;562;239;532;486;185|.	F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;ABLM1_HUMAN;.;.;.;.|.	L|X	562;502;239;185;530;502;630;486;239;486;630;314|436	ENSP00000358256:P502L;ENSP00000376679:P239L;ENSP00000433629:P502L;ENSP00000358270:P239L|.	ENSP00000277895:P630L|.	P|Q	-|-	2|1	0|0	ABLIM1|ABLIM1	116197679|116197679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.889000|7.889000	0.87307|0.87307	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CCA|CAA		0.547	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			30	50	0	0	0	1	0	30	50				
KIAA0430	9665	broad.mit.edu	37	16	15715622	15715622	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15715622G>A	ENST00000396368.3	-	12	2813	c.2607C>T	c.(2605-2607)acC>acT	p.T869T	KIAA0430_ENST00000602337.1_Silent_p.T866T|KIAA0430_ENST00000548025.1_Silent_p.T866T|KIAA0430_ENST00000344181.3_Silent_p.T538T|KIAA0430_ENST00000551742.1_Silent_p.T869T|KIAA0430_ENST00000540441.2_Silent_p.T704T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	869	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGCAGCCCCGGTGGCAAGTG	0.408																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(2605-2607)acC>acT		KIAA0430							96.0	90.0	92.0					16																	15715622		1867	4113	5980	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15715622G>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2607C>T	16.37:g.15715622G>A						KIAA0430_ENST00000551742.1_Silent_p.T869T|KIAA0430_ENST00000602337.1_Silent_p.T866T|KIAA0430_ENST00000540441.2_Silent_p.T704T|KIAA0430_ENST00000548025.1_Silent_p.T866T|KIAA0430_ENST00000344181.3_Silent_p.T538T	p.T869T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			12	2813	-			868			RRM.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.2607C>T	CCDS10562.2																																																																																				0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		27	32	0	0	0	1	0	27	32				
CHD7	55636	broad.mit.edu	37	8	61741254	61741254	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:61741254C>T	ENST00000423902.2	+	14	3890	c.3411C>T	c.(3409-3411)ctC>ctT	p.L1137L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1137	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAACCCCACTCCAGAACACTG	0.423																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3409-3411)ctC>ctT		chromodomain helicase DNA binding protein 7							54.0	56.0	55.0					8																	61741254		1877	4108	5985	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61741254C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3411C>T	8.37:g.61741254C>T						CHD7_ENST00000524602.1_Intron	p.L1137L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		14	3890	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1137			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.3411C>T	CCDS47865.1																																																																																				0.423	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		9	12	0	0	0	1	0	9	12				
HRNR	388697	broad.mit.edu	37	1	152191937	152191937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152191937G>A	ENST00000368801.2	-	3	2243	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	723					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGCCGGAGGAGTGACTTGA	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2167-2169)tCc>tTc		hornerin							202.0	203.0	203.0					1																	152191937		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191937G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2168C>T	1.37:g.152191937G>A	ENSP00000357791:p.Ser723Phe					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S723F	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2243	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		723					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2168C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.699	0.313576	0.10789	.	.	ENSG00000197915	ENST00000368801	T	0.05580	3.42	3.29	2.31	0.28768	.	.	.	.	.	T	0.05960	0.0155	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.56278	0.795	T	0.22243	-1.0222	9	0.62326	D	0.03	.	9.001	0.36081	0.0:0.0:0.7772:0.2227	.	723	Q86YZ3	HORN_HUMAN	F	723	ENSP00000357791:S723F	ENSP00000357791:S723F	S	-	2	0	HRNR	150458561	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.138000	0.16016	0.516000	0.28340	0.603000	0.83216	TCC		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		87	91	0	0	0	1	0	87	91				
SCAND1	51282	broad.mit.edu	37	20	34542150	34542150	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34542150C>T	ENST00000373991.3	-	3	1127	c.57G>A	c.(55-57)ccG>ccA	p.P19P	SCAND1_ENST00000305978.2_Silent_p.P19P			P57086	SCND1_HUMAN	SCAN domain containing 1	19					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)					Breast(12;0.00631)|all_lung(11;0.0233)					CCAGTTTCTCCGGTGGCACCG	0.662																																						ENST00000373991.3																			0											c.(55-57)ccG>ccA		SCAN domain containing 1							16.0	18.0	18.0					20																	34542150		2158	4206	6364	SO:0001819	synonymous_variant	51282				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:34542150C>T	AF204271	CCDS13269.1	20q11.1-q11.23	2013-01-08	2002-01-14		ENSG00000171222	ENSG00000171222		"""-"""	10566	protein-coding gene	gene with protein product		610416	"""SCAN domain-containing 1"""			10777584, 10747874, 12444922	Standard	NM_016558		Approved	SDP1, RAZ1	uc002xen.2	P57086	OTTHUMG00000032370	ENST00000373991.3:c.57G>A	20.37:g.34542150C>T						SCAND1_ENST00000305978.2_Silent_p.P19P	p.P19P			P57086	SCND1_HUMAN			3	1127	-	Breast(12;0.00631)|all_lung(11;0.0233)		19					Q6IAG7	Silent	SNP	ENST00000373991.3	37	c.57G>A	CCDS13269.1																																																																																				0.662	SCAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078958.2	NM_016558		8	33	0	0	0	1	0	8	33				
LAMA4	3910	broad.mit.edu	37	6	112440463	112440463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:112440463G>A	ENST00000230538.7	-	34	5114	c.4717C>T	c.(4717-4719)Cga>Tga	p.R1573*	LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R1566*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1573	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		TCTAGGACTCGGAGACCATCA	0.453																																						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.(4717-4719)Cga>Tga		laminin, alpha 4							123.0	120.0	121.0					6																	112440463		2203	4300	6503	SO:0001587	stop_gained	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.chr6:112440463G>A		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.4717C>T	6.37:g.112440463G>A	ENSP00000230538:p.Arg1573*					LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R1566*	p.R1573*	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)	34	5114	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1573			Laminin G-like 4.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	c.4717C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	47	13.348970	0.99736	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.69	4.81	0.61882	.	0.147700	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8834	0.79222	0.0:0.0:0.8634:0.1366	.	.	.	.	X	1573;1566;1566;1566	.	ENSP00000230538:R1573X	R	-	1	2	LAMA4	112547156	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	4.710000	0.61873	1.370000	0.46153	0.555000	0.69702	CGA		0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		31	23	0	0	0	1	0	31	23				
SBF1	6305	broad.mit.edu	37	22	50899028	50899028	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50899028G>A	ENST00000390679.3	-	24	3265	c.3081C>T	c.(3079-3081)acC>acT	p.T1027T	SBF1_ENST00000348911.6_Silent_p.T1028T|SBF1_ENST00000380817.3_Silent_p.T1027T			O95248	MTMR5_HUMAN	SET binding factor 1	1027					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGCCCAAGGTGAACGCAA	0.647																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3079-3081)acC>acT		SET binding factor 1							87.0	95.0	92.0					22																	50899028		2080	4209	6289	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899028G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3081C>T	22.37:g.50899028G>A						SBF1_ENST00000348911.6_Silent_p.T1028T|SBF1_ENST00000390679.3_Silent_p.T1027T	p.T1027T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	24	3264	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1027					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3081C>T																																																																																					0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				56	102	0	0	0	1	0	56	102				
CMTM5	116173	broad.mit.edu	37	14	23846500	23846500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23846500G>A	ENST00000339180.4	+	1	256	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CMTM5_ENST00000342473.4_Missense_Mutation_p.E14K|CMTM5_ENST00000397227.3_Missense_Mutation_p.E14K|CMTM5_ENST00000359320.3_Missense_Mutation_p.E14K|CMTM5_ENST00000382809.2_Missense_Mutation_p.E14K|CMTM5_ENST00000555731.1_Missense_Mutation_p.E14K			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	14					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCACCCTGAGGAGGGGGTAGT	0.607																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(40-42)Gag>Aag		CKLF-like MARVEL transmembrane domain containing 5							74.0	76.0	75.0					14																	23846500		2203	4300	6503	SO:0001583	missense	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23846500G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.40G>A	14.37:g.23846500G>A	ENSP00000344819:p.Glu14Lys					CMTM5_ENST00000555731.1_Missense_Mutation_p.E14K|CMTM5_ENST00000382809.2_Missense_Mutation_p.E14K|CMTM5_ENST00000339180.4_Missense_Mutation_p.E14K|CMTM5_ENST00000342473.4_Missense_Mutation_p.E14K|CMTM5_ENST00000397227.3_Missense_Mutation_p.E14K	p.E14K	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	1	484	+	all_cancers(95;2e-05)		14					E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.40G>A		.	.	.	.	.	.	.	.	.	.	G	26.9	4.778663	0.90195	.	.	ENSG00000166091	ENST00000359320;ENST00000382809;ENST00000339180;ENST00000342473;ENST00000397227;ENST00000555731	T;T;T;T	0.52526	1.45;0.85;0.81;0.66	4.31	4.31	0.51392	.	0.242826	0.29438	N	0.012149	T	0.42675	0.1213	L	0.29908	0.895	0.32331	N	0.561085	B;P;B;B;B	0.46859	0.275;0.885;0.167;0.3;0.204	B;P;B;B;B	0.45753	0.088;0.492;0.085;0.164;0.073	T	0.57441	-0.7811	10	0.72032	D	0.01	-0.0532	15.083	0.72130	0.0:0.0:1.0:0.0	.	14;14;14;14;14	C9JAI6;Q96DZ9;Q96DZ9-5;E9PH91;Q96DZ9-2	.;CKLF5_HUMAN;.;.;.	K	14	ENSP00000352270:E14K;ENSP00000372259:E14K;ENSP00000344819:E14K;ENSP00000451514:E14K	ENSP00000344819:E14K	E	+	1	0	CMTM5	22916340	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.562000	0.45914	2.684000	0.91462	0.655000	0.94253	GAG		0.607	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			31	46	0	0	0	1	0	31	46				
NCOR2	9612	broad.mit.edu	37	12	124817682	124817682	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124817682T>C	ENST00000405201.1	-	42	6749	c.6749A>G	c.(6748-6750)gAg>gGg	p.E2250G	NCOR2_ENST00000404121.2_Missense_Mutation_p.E1811G|NCOR2_ENST00000404621.1_Missense_Mutation_p.E2240G|NCOR2_ENST00000397355.1_Missense_Mutation_p.E2241G|NCOR2_ENST00000356219.3_Missense_Mutation_p.E2257G|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2240G			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTC	0.642																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6769-6771)gAg>gGg		nuclear receptor corepressor 2							56.0	66.0	63.0					12																	124817682		2102	4224	6326	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124817682T>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6749A>G	12.37:g.124817682T>C	ENSP00000384018:p.Glu2250Gly					NCOR2_ENST00000404621.1_Missense_Mutation_p.E2240G|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2240G|NCOR2_ENST00000405201.1_Missense_Mutation_p.E2250G|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1811G|NCOR2_ENST00000397355.1_Missense_Mutation_p.E2241G	p.E2257G	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	43	6925	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2261					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6770A>G	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.00|15.00	2.703510|2.703510	0.48412|0.48412	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000443451;ENST00000440337	T;T;T;T;T;T|.	0.20881|.	2.04;2.3;2.04;2.3;2.04;2.3|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.379315|.	0.26258|.	N|.	0.025416|.	T|T	0.64080|0.64080	0.2566|0.2566	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D|.	0.67145|.	0.991;0.996;0.993|.	P;D;D|.	0.69824|.	0.828;0.966;0.926|.	T|T	0.62863|0.62863	-0.6764|-0.6764	10|5	0.42905|.	T|.	0.14|.	-28.389|-28.389	14.3649|14.3649	0.66799|0.66799	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2241;2250;2261|.	C9J239;C9JFD3;Q9Y618|.	.;.;NCOR2_HUMAN|.	G|G	2250;2240;2257;2241;2249;1811;342;2240|123;41	ENSP00000384018:E2250G;ENSP00000384202:E2240G;ENSP00000348551:E2257G;ENSP00000380513:E2241G;ENSP00000385618:E1811G;ENSP00000400281:E2240G|.	ENSP00000348551:E2257G|.	E|S	-|-	2|1	0|0	NCOR2|NCOR2	123383635|123383635	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.448000|0.448000	0.32197|0.32197	4.223000|4.223000	0.58587|0.58587	1.783000|1.783000	0.52377|0.52377	0.528000|0.528000	0.53228|0.53228	GAG|AGC		0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	61	0	0	0	1	0	16	61				
BMP3	651	broad.mit.edu	37	4	81967227	81967227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:81967227G>A	ENST00000282701.2	+	2	972	c.652G>A	c.(652-654)Gga>Aga	p.G218R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	218					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTTCCTCATAGGATTTAACAT	0.433																																						ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(652-654)Gga>Aga		bone morphogenetic protein 3							115.0	124.0	121.0					4																	81967227		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967227G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.652G>A	4.37:g.81967227G>A	ENSP00000282701:p.Gly218Arg						p.G218R	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	972	+			218					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.652G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004864	0.54254	.	.	ENSG00000152785	ENST00000282701	T	0.73897	-0.79	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85590	0.1245	10	0.52906	T	0.07	.	18.6092	0.91277	0.0:0.0:1.0:0.0	.	218	P12645	BMP3_HUMAN	R	218	ENSP00000282701:G218R	ENSP00000282701:G218R	G	+	1	0	BMP3	82186251	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	5.927000	0.70080	2.806000	0.96561	0.655000	0.94253	GGA		0.433	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			71	52	0	0	0	1	0	71	52				
ATRX	546	broad.mit.edu	37	X	76938406	76938406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76938406C>T	ENST00000373344.5	-	9	2556	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R743Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGAACTTTTTCGTTTCCTTTT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2341-2343)cGa>cAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						134.0	139.0	137.0					X																	76938406		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938406C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2342G>A	X.37:g.76938406C>T	ENSP00000362441:p.Arg781Gln					ATRX_ENST00000395603.3_Missense_Mutation_p.R743Q|ATRX_ENST00000480283.1_5'UTR	p.R781Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2556	-			781					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.2342G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318675	0.40996	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.95412	-3.66;-3.7	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	D	0.96688	0.8919	L	0.58101	1.795	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.947;0.999	D;D;B;D	0.87578	0.978;0.998;0.268;0.978	D	0.95949	0.8953	10	0.41790	T	0.15	-5.6206	12.6213	0.56605	0.0:0.9229:0.0:0.0771	.	781;713;743;781	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	Q	781;743;708	ENSP00000362441:R781Q;ENSP00000378967:R743Q	ENSP00000362441:R781Q	R	-	2	0	ATRX	76825062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.247000	0.65416	2.501000	0.84356	0.513000	0.50165	CGA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		124	123	0	0	0	1	0	124	123				
LY6G6C	80740	broad.mit.edu	37	6	31692569	31692569	+	5'Flank	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31692569G>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000375810.4_Silent_p.E196E|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Silent_p.E196E|C6orf25_ENST00000375805.2_Missense_Mutation_p.R166K|C6orf25_ENST00000480039.1_Missense_Mutation_p.R190K	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GAGCCCCAGAGGCCAGTAAAG	0.572																																						ENST00000480039.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(568-570)aGg>aAg		chromosome 6 open reading frame 25							53.0	49.0	50.0					6																	31692569		2203	4300	6503	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692569G>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692569G>A	Exception_encountered					C6orf25_ENST00000375810.4_Silent_p.E196E|C6orf25_ENST00000375805.2_Missense_Mutation_p.R166K|C6orf25_ENST00000375809.3_Silent_p.E196E	p.R190K			O95866	G6B_HUMAN			5	609	+			190					Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.569G>A	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473205	0.12461	.	.	ENSG00000204420	ENST00000480039;ENST00000375805;ENST00000375814;ENST00000375806	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.98	2.11	0.27256	.	0.731705	0.12545	N	0.459596	T	0.16811	0.0404	L	0.32530	0.975	0.09310	N	1	B;B;B	0.25272	0.122;0.122;0.122	B;B;B	0.28305	0.088;0.059;0.059	T	0.24333	-1.0163	10	0.62326	D	0.03	-6.7815	5.1864	0.15185	0.1896:0.1707:0.6397:0.0	.	166;146;190	O95866-3;O95866-5;O95866	.;.;G6B_HUMAN	K	190;166;146;190	ENSP00000419306:R190K;ENSP00000364963:R166K;ENSP00000364972:R146K;ENSP00000364964:R190K	ENSP00000364963:R166K	R	+	2	0	C6orf25	31800548	0.589000	0.26807	0.044000	0.18714	0.004000	0.04260	0.896000	0.28377	0.670000	0.31165	-0.218000	0.12543	AGG		0.572	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			3	25	0	0	0	1	0	3	25				
SLC37A1	54020	broad.mit.edu	37	21	43979139	43979139	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:43979139C>T	ENST00000352133.2	+	11	1903	c.921C>T	c.(919-921)ctC>ctT	p.L307L	AP001625.6_ENST00000442605.1_RNA|SLC37A1_ENST00000398341.3_Silent_p.L307L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	307					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						TCGTCATTCTCCCCGGGGACG	0.577																																						ENST00000352133.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						c.(919-921)ctC>ctT		solute carrier family 37 (glucose-6-phosphate transporter), member 1							57.0	49.0	52.0					21																	43979139		2203	4300	6503	SO:0001819	synonymous_variant	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43979139C>T	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.921C>T	21.37:g.43979139C>T						SLC37A1_ENST00000398341.3_Silent_p.L307L	p.L307L			P57057	GLPT_HUMAN			11	1903	+			307					D3DSJ7|Q9HAQ1	Silent	SNP	ENST00000352133.2	37	c.921C>T	CCDS13689.1																																																																																				0.577	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			23	9	0	0	0	1	0	23	9				
MICALCL	84953	broad.mit.edu	37	11	12315196	12315196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:12315196G>A	ENST00000256186.2	+	3	509	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	73	Interaction with MAPK1. {ECO:0000250}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GTAGCCCAAGGAGCACCCAGG	0.582																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(217-219)gGa>gAa		MICAL C-terminal like							145.0	153.0	150.0					11																	12315196		1951	4138	6089	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315196G>A	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.218G>A	11.37:g.12315196G>A	ENSP00000256186:p.Gly73Glu						p.G73E	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	509	+			73			Interaction with MAPK1 (By similarity).		Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.218G>A	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089158	0.55968	.	.	ENSG00000133808	ENST00000256186	T	0.08458	3.09	5.71	2.43	0.29744	.	0.159374	0.29594	N	0.011716	T	0.03739	0.0106	N	0.24115	0.695	0.09310	N	1	P	0.42409	0.779	B	0.39185	0.293	T	0.21075	-1.0256	10	0.05436	T	0.98	.	3.5865	0.07973	0.2485:0.2112:0.5403:0.0	.	73	Q6ZW33	MICLK_HUMAN	E	73	ENSP00000256186:G73E	ENSP00000256186:G73E	G	+	2	0	MICALCL	12271772	0.355000	0.24921	0.019000	0.16419	0.226000	0.24999	0.746000	0.26275	0.752000	0.32923	0.655000	0.94253	GGA		0.582	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		57	111	0	0	0	1	0	57	111				
DOCK3	1795	broad.mit.edu	37	3	51197996	51197996	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51197996C>T	ENST00000266037.9	+	12	923	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	300					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCGGATGCTCCTGAACGACT	0.517																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(898-900)ctC>ctT		dedicator of cytokinesis 3							56.0	57.0	57.0					3																	51197996		2056	4208	6264	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51197996C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.900C>T	3.37:g.51197996C>T							p.L300L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	12	923	+			300					O15017	Silent	SNP	ENST00000266037.9	37	c.900C>T	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	10	0	0	0	1	0	10	10				
DCAF12L1	139170	broad.mit.edu	37	X	125685766	125685766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:125685766C>T	ENST00000371126.1	-	1	1068	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	276										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCTCCCAGTTCCTGGTTCTTG	0.637																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(826-828)Gaa>Aaa		DDB1 and CUL4 associated factor 12-like 1							45.0	45.0	45.0					X																	125685766		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685766C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.826G>A	X.37:g.125685766C>T	ENSP00000360167:p.Glu276Lys						p.E276K	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	1068	-			276					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.826G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157173	0.78114	.	.	ENSG00000198889	ENST00000371126	T	0.62105	0.05	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36482	N	0.002577	T	0.75817	0.3901	M	0.80982	2.52	0.42862	D	0.994113	D	0.76494	0.999	D	0.80764	0.994	T	0.74372	-0.3687	10	0.27082	T	0.32	.	10.4451	0.44488	0.0:1.0:0.0:0.0	.	276	Q5VU92	DC121_HUMAN	K	276	ENSP00000360167:E276K	ENSP00000360167:E276K	E	-	1	0	DCAF12L1	125513447	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	4.402000	0.59722	2.225000	0.72522	0.429000	0.28392	GAA		0.637	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		39	51	0	0	0	1	0	39	51				
DCHS1	8642	broad.mit.edu	37	11	6653331	6653331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6653331C>T	ENST00000299441.3	-	6	3823	c.3412G>A	c.(3412-3414)Gga>Aga	p.G1138R	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1138	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAGACGTCCATTGGGTCCT	0.607																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(3412-3414)Gga>Aga		dachsous cadherin-related 1							83.0	81.0	82.0					11																	6653331		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653331C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3412G>A	11.37:g.6653331C>T	ENSP00000299441:p.Gly1138Arg					RP11-732A19.6_ENST00000526633.1_RNA	p.G1138R	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3823	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1138			Cadherin 11.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3412G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313357	0.60414	.	.	ENSG00000166341	ENST00000299441	T	0.06294	3.32	4.66	4.66	0.58398	Cadherin (4);Cadherin-like (1);	0.000000	0.45606	D	0.000344	T	0.25005	0.0607	M	0.83223	2.63	0.45648	D	0.998574	D	0.89917	1.0	D	0.97110	1.0	T	0.00406	-1.1759	10	0.87932	D	0	.	10.4273	0.44387	0.0:0.9001:0.0:0.0999	.	1138	Q96JQ0	PCD16_HUMAN	R	1138	ENSP00000299441:G1138R	ENSP00000299441:G1138R	G	-	1	0	DCHS1	6609907	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.807000	0.47955	2.584000	0.87258	0.561000	0.74099	GGA		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	15	0	0	0	1	0	9	15				
UNC13C	440279	broad.mit.edu	37	15	54804026	54804026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:54804026G>A	ENST00000260323.11	+	23	5455	c.5455G>A	c.(5455-5457)Gag>Aag	p.E1819K	UNC13C_ENST00000545554.1_Missense_Mutation_p.E1819K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1817K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					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)		GGGAGGGAAGGAGGTGGGTAT	0.348																																						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.(5455-5457)Gag>Aag		unc-13 homolog C (C. elegans)							56.0	55.0	55.0					15																	54804026		1821	4105	5926	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54804026G>A	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.5455G>A	15.37:g.54804026G>A	ENSP00000260323:p.Glu1819Lys					UNC13C_ENST00000260323.11_Missense_Mutation_p.E1819K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1817K	p.E1819K			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5455	+			1819					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5455G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287718	0.59976	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.14144	2.53;2.53;2.53	5.69	5.69	0.88448	.	0.059066	0.64402	D	0.000002	T	0.08846	0.0219	N	0.04959	-0.14	0.44711	D	0.9977	B	0.27853	0.191	B	0.23852	0.049	T	0.33111	-0.9881	10	0.38643	T	0.18	.	18.8049	0.92032	0.0:0.0:1.0:0.0	.	1819	Q8NB66	UN13C_HUMAN	K	1819;1819;1817	ENSP00000260323:E1819K;ENSP00000438156:E1819K;ENSP00000442569:E1817K	ENSP00000260323:E1819K	E	+	1	0	UNC13C	52591318	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.259000	0.58828	2.679000	0.91253	0.563000	0.77884	GAG		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	5	0	0	0	1	0	6	5				
SPTA1	6708	broad.mit.edu	37	1	158619695	158619695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158619695C>T	ENST00000368147.4	-	25	3700	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1174					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCGCTGTTCATCTGCAAGC	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3520-3522)Gaa>Aaa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							28.0	29.0	29.0					1																	158619695		1843	4090	5933	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158619695C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3520G>A	1.37:g.158619695C>T	ENSP00000357129:p.Glu1174Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.E1174K	p.E1174K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			25	3700	-	all_hematologic(112;0.0378)		1174					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3520G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701917	0.88924	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.53857	0.6;0.6	5.08	5.08	0.68730	.	0.000000	0.32970	N	0.005440	T	0.40595	0.1123	L	0.31526	0.94	0.54753	D	0.999985	P	0.37500	0.597	P	0.46885	0.53	T	0.25745	-1.0123	10	0.30854	T	0.27	.	17.2337	0.86992	0.0:1.0:0.0:0.0	.	1174	P02549	SPTA1_HUMAN	K	1174	ENSP00000357130:E1174K;ENSP00000357129:E1174K	ENSP00000357129:E1174K	E	-	1	0	SPTA1	156886319	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	6.743000	0.74848	2.621000	0.88768	0.650000	0.86243	GAA		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	31	0	0	0	1	0	9	31				
C2orf71	388939	broad.mit.edu	37	2	29295426	29295426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29295426C>T	ENST00000331664.5	-	1	1701	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	568					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCCCCTCCTCCTCCTCAGAC	0.592																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1702-1704)Gag>Aag		chromosome 2 open reading frame 71							44.0	48.0	46.0					2																	29295426		2042	4189	6231	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295426C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1702G>A	2.37:g.29295426C>T	ENSP00000332809:p.Glu568Lys						p.E568K	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1701	-			568						Missense_Mutation	SNP	ENST00000331664.5	37	c.1702G>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789943	0.90367	.	.	ENSG00000179270	ENST00000331664	T	0.30448	1.53	5.17	5.17	0.71159	.	0.139732	0.49305	D	0.000159	T	0.53045	0.1772	M	0.68952	2.095	0.46774	D	0.999192	D	0.63046	0.992	P	0.61592	0.891	T	0.56625	-0.7948	10	0.72032	D	0.01	-12.6409	18.6739	0.91521	0.0:1.0:0.0:0.0	.	568	A6NGG8	CB071_HUMAN	K	568	ENSP00000332809:E568K	ENSP00000332809:E568K	E	-	1	0	C2orf71	29148930	1.000000	0.71417	0.993000	0.49108	0.566000	0.35808	7.246000	0.78247	2.421000	0.82119	0.561000	0.74099	GAG		0.592	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		21	40	0	0	0	1	0	21	40				
FNIP1	96459	broad.mit.edu	37	5	131080314	131080314	+	Silent	SNP	C	C	T	rs375191651		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131080314C>T	ENST00000510461.1	-	2	257	c.162G>A	c.(160-162)ggG>ggA	p.G54G	CTC-432M15.3_ENST00000514667.1_Silent_p.G54G|FNIP1_ENST00000307968.7_Silent_p.G54G|FNIP1_ENST00000307954.8_Silent_p.G54G|FNIP1_ENST00000511848.1_Silent_p.G54G	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	54					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AAACATTTCTCCCTCGTCTTT	0.363																																						ENST00000514667.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(160-162)ggG>ggA		folliculin interacting protein 1		C	,	0,4406		0,0,2203	140.0	128.0	132.0		162,162	3.1	1.0	5		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FNIP1	NM_001008738.2,NM_133372.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	54/1139,54/1167	131080314	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131080314C>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.162G>A	5.37:g.131080314C>T						FNIP1_ENST00000510461.1_Silent_p.G54G|FNIP1_ENST00000307968.7_Silent_p.G54G|FNIP1_ENST00000307954.8_Silent_p.G54G|FNIP1_ENST00000511848.1_Silent_p.G54G	p.G54G					KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	2	223	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.162G>A	CCDS34227.1																																																																																				0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		21	37	0	0	0	1	0	21	37				
DNM1P34	729809	broad.mit.edu	37	15	75594981	75594981	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75594981C>A	ENST00000567292.1	-	0	325							Q6PK57	DMP34_HUMAN	DNM1 pseudogene 34							microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAACCATTCTCCTCGGCCTTG	0.617																																						ENST00000567292.1																			0																																																			729809							g.chr15:75594981C>A	AJ576251		15q24.2	2013-04-25			ENSG00000260357	ENSG00000260357			35181	pseudogene	pseudogene				DNM1DN8@			Standard	NG_009143		Approved	DNM1DN8-1, DNM1DN8-5	uc002azx.1	Q6PK57	OTTHUMG00000172673		15.37:g.75594981C>A														0	325	-									RNA	SNP	ENST00000567292.1	37																																																																																						0.617	DNM1P34-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419799.1	NG_009143		8	9	1	0	5.4927e-09	1	5.53578e-09	8	9				
HGFAC	3083	broad.mit.edu	37	4	3444616	3444616	+	Missense_Mutation	SNP	C	C	T	rs199767749	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:3444616C>T	ENST00000382774.3	+	2	390	c.275C>T	c.(274-276)tCg>tTg	p.S92L	HGFAC_ENST00000511533.1_Missense_Mutation_p.S92L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	92					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S92*(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGTTCCCTCGAGCAGTAGC	0.677																																						ENST00000382774.3																			1	Substitution - Nonsense(1)	p.S92*(1)	urinary_tract(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(274-276)tCg>tTg		HGF activator							29.0	35.0	33.0					4																	3444616		2198	4297	6495	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3444616C>T	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.275C>T	4.37:g.3444616C>T	ENSP00000372224:p.Ser92Leu					HGFAC_ENST00000511533.1_Missense_Mutation_p.S92L	p.S92L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	390	+			92					Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.275C>T	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	c	0.692	-0.794138	0.02862	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.89270	-2.49;-2.46	1.99	-0.856	0.10697	Kringle-like fold (1);	0.882545	0.09021	U	0.860091	T	0.76378	0.3979	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.57871	-0.7736	10	0.20046	T	0.44	.	2.8965	0.05692	0.0:0.4418:0.2409:0.3173	.	92;92	D6RAR4;Q04756	.;HGFA_HUMAN	L	92	ENSP00000372224:S92L;ENSP00000421801:S92L	ENSP00000372224:S92L	S	+	2	0	HGFAC	3414414	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.550000	0.23345	-0.283000	0.09115	-2.036000	0.00420	TCG		0.677	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			14	23	0	0	0	1	0	14	23				
DDX6	1656	broad.mit.edu	37	11	118638971	118638971	+	Silent	SNP	G	G	A	rs372116927		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638971G>A	ENST00000526070.2	-	5	819	c.459C>T	c.(457-459)ccC>ccT	p.P153P	DDX6_ENST00000534980.1_Silent_p.P153P|DDX6_ENST00000264018.4_Silent_p.P153P	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GTTCAAGTAAGGGAATGAGGT	0.408			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(457-459)ccC>ccT		DEAD (Asp-Glu-Ala-Asp) box helicase 6		G		0,3728		0,0,1864	103.0	95.0	97.0		459	3.8	1.0	11		97	1,8195		0,1,4097	no	coding-synonymous	DDX6	NM_004397.4		0,1,5961	AA,AG,GG		0.0122,0.0,0.0084		153/484	118638971	1,11923	1864	4098	5962	SO:0001819	synonymous_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118638971G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.459C>T	11.37:g.118638971G>A						DDX6_ENST00000534980.1_Silent_p.P153P|DDX6_ENST00000526070.2_Silent_p.P153P	p.P153P	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	5	764	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	153			Helicase ATP-binding.		Q5D048	Silent	SNP	ENST00000526070.2	37	c.459C>T	CCDS44751.1																																																																																				0.408	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		10	21	0	0	0	1	0	10	21				
CTBP2	1488	broad.mit.edu	37	10	126715548	126715548	+	Intron	SNP	G	G	A	rs149172507	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715548G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Missense_Mutation_p.R261W|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGCTTTCCCGGGCAGGCCCG	0.647													G|||	16	0.00319489	0.0121	0.0	5008	,	,		17367	0.0		0.0	False		,,,				2504	0.0					ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(781-783)Cgg>Tgg		C-terminal binding protein 2		G	,,TRP/ARG	38,4368	42.3+/-75.8	0,38,2165	50.0	54.0	52.0		,,781	4.2	0.0	10	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	yes	intron,intron,missense	CTBP2	NM_001083914.1,NM_001329.2,NM_022802.2	,,101	0,39,6464	AA,AG,GG		0.0116,0.8625,0.2999	,,probably-damaging	,,261/986	126715548	39,12967	2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715548G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12017C>T	10.37:g.126715548G>A						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	p.R261W	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	911	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	414					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.781C>T	CCDS7643.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	7.684	0.689684	0.14973	0.008625	1.16E-4	ENSG00000175029	ENST00000309035	D	0.83506	-1.73	4.25	4.25	0.50352	.	0.771943	0.11454	N	0.562453	T	0.76485	0.3994	.	.	.	0.20307	N	0.999914	D	0.59767	0.986	P	0.47015	0.534	T	0.71364	-0.4615	9	0.87932	D	0	.	10.2791	0.43528	0.0:0.0:0.6664:0.3336	.	261	P56545-2	.	W	261	ENSP00000311825:R261W	ENSP00000311825:R261W	R	-	1	2	CTBP2	126705538	0.191000	0.23288	0.038000	0.18304	0.042000	0.13812	0.617000	0.24359	2.345000	0.79718	0.655000	0.94253	CGG		0.647	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		30	46	0	0	0	1	0	30	46				
SERPINA1	5265	broad.mit.edu	37	14	94849227	94849227	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94849227G>A	ENST00000448921.1	-	4	920	c.348C>T	c.(346-348)atC>atT	p.I116I	SERPINA1_ENST00000404814.4_Silent_p.I116I|SERPINA1_ENST00000449399.3_Silent_p.I116I|SERPINA1_ENST00000355814.4_Silent_p.I116I|SERPINA1_ENST00000393087.4_Silent_p.I116I|SERPINA1_ENST00000437397.1_Silent_p.I116I|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000440909.1_Silent_p.I116I|SERPINA1_ENST00000393088.4_Silent_p.I116I|SERPINA1_ENST00000402629.1_Silent_p.I116I	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	116			I -> N (in QO-Ludwigshafen; dbSNP:rs28931572). {ECO:0000269|PubMed:2254451}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGCCTTCATGGATCTGAGCCT	0.587																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(346-348)atC>atT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						61.0	60.0	61.0					14																	94849227		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849227G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.348C>T	14.37:g.94849227G>A						SERPINA1_ENST00000393087.4_Silent_p.I116I|SERPINA1_ENST00000355814.4_Silent_p.I116I|SERPINA1_ENST00000402629.1_Silent_p.I116I|SERPINA1_ENST00000437397.1_Silent_p.I116I|SERPINA1_ENST00000440909.1_Silent_p.I116I|SERPINA1_ENST00000449399.3_Silent_p.I116I|SERPINA1_ENST00000393088.4_Silent_p.I116I|SERPINA1_ENST00000404814.4_Silent_p.I116I	p.I116I	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	920	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	116		I -> N (in QO-Ludwigshafen; dbSNP:rs28931572).			A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.348C>T	CCDS9925.1																																																																																				0.587	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		17	32	0	0	0	1	0	17	32				
OBSL1	23363	broad.mit.edu	37	2	220431779	220431779	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:220431779G>A	ENST00000404537.1	-	5	1963	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	OBSL1_ENST00000373876.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S636F|OBSL1_ENST00000289656.3_Missense_Mutation_p.S223F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S636F|OBSL1_ENST00000265318.4_Missense_Mutation_p.S636F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	636					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GAGATCGAGGGAGAAGACGGC	0.607																																						ENST00000404537.1																			0											c.(1906-1908)tCc>tTc		obscurin-like 1							27.0	29.0	29.0					2																	220431779		2044	4195	6239	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220431779G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1907C>T	2.37:g.220431779G>A	ENSP00000385636:p.Ser636Phe					OBSL1_ENST00000289656.3_Missense_Mutation_p.S223F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373876.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S636F|OBSL1_ENST00000265318.4_Missense_Mutation_p.S636F	p.S636F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	5	1963	-		Renal(207;0.0376)	636					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.1907C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019950	0.75275	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.83	4.83	0.62350	Immunoglobulin-like fold (1);	.	.	.	.	T	0.63141	0.2486	M	0.67700	2.07	0.51012	D	0.999905	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.976;0.984;0.966;0.998	T	0.65425	-0.6171	9	0.59425	D	0.04	.	16.2734	0.82632	0.0:0.0:1.0:0.0	.	637;636;223;636	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	F	636;636;636;636;223	ENSP00000265318:S636F;ENSP00000385636:S636F;ENSP00000362983:S636F;ENSP00000362980:S636F;ENSP00000289656:S223F	ENSP00000265318:S636F	S	-	2	0	OBSL1	220140023	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.121000	0.64691	2.517000	0.84864	0.655000	0.94253	TCC		0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			6	11	0	0	0	1	0	6	11				
SPEF2	79925	broad.mit.edu	37	5	35806928	35806928	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:35806928C>T	ENST00000356031.3	+	35	5284	c.5130C>T	c.(5128-5130)atC>atT	p.I1710I	SPEF2_ENST00000440995.2_Silent_p.I1705I|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Silent_p.I507I	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1710					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAAGAAATCCCTGAAAATG	0.433																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(5113-5115)atC>atT		sperm flagellar 2							80.0	77.0	78.0					5																	35806928		1866	4098	5964	SO:0001819	synonymous_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35806928C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5130C>T	5.37:g.35806928C>T						SPEF2_ENST00000303129.4_Silent_p.I507I|SPEF2_ENST00000356031.3_Silent_p.I1710I|CTD-2113L7.1_ENST00000510433.1_RNA	p.I1705I			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		35	5115	+	all_lung(31;7.56e-05)		1710					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	ENST00000356031.3	37	c.5115C>T	CCDS43309.1																																																																																				0.433	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		16	31	0	0	0	1	0	16	31				
DLGAP2	9228	broad.mit.edu	37	8	1497038	1497038	+	Missense_Mutation	SNP	C	C	T	rs372318078		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1497038C>T	ENST00000421627.2	+	2	313	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	139					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCGCGCAGCTCGGTGCACTCG	0.731																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(178-180)tCg>tTg		discs, large (Drosophila) homolog-associated protein 2		C	LEU/SER	0,3948		0,0,1974	10.0	11.0	10.0		179	5.3	0.2	8		10	1,8051		0,1,4025	no	missense	DLGAP2	NM_004745.3	145	0,1,5999	TT,TC,CC		0.0124,0.0,0.0083	probably-damaging	60/976	1497038	1,11999	1974	4026	6000	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497038C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.179C>T	8.37:g.1497038C>T	ENSP00000400258:p.Ser60Leu						p.S60L	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	313	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	139					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.179C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.293834|5.293834	0.95546|0.95546	0.0|0.0	1.24E-4|1.24E-4	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.14144	.|2.53	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.40909|0.40909	0.1136|0.1136	M|M	0.75085|0.75085	2.285|2.285	0.49582|0.49582	D|D	0.999808|0.999808	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	T|T	0.28427|0.28427	-1.0044|-1.0044	5|10	.|0.72032	.|D	.|0.01	-6.9626|-6.9626	19.0178|19.0178	0.92901|0.92901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|139;139	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|L	77|105;60	.|ENSP00000400258:S60L	.|ENSP00000348366:S105L	R|S	+|+	1|2	2|0	DLGAP2|DLGAP2	1484445|1484445	1.000000|1.000000	0.71417|0.71417	0.229000|0.229000	0.23960|0.23960	0.989000|0.989000	0.77384|0.77384	7.350000|7.350000	0.79385|0.79385	2.485000|2.485000	0.83878|0.83878	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.731	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		9	15	0	0	0	1	0	9	15				
KRT12	3859	broad.mit.edu	37	17	39019386	39019386	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39019386C>T	ENST00000251643.4	-	6	1328	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	435	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTTGGGCCTCCCCGTCCAGCA	0.607																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1303-1305)ggG>ggA		keratin 12							30.0	30.0	30.0					17																	39019386		2203	4296	6499	SO:0001819	synonymous_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019386C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1305G>A	17.37:g.39019386C>T						RP5-1110E20.1_ENST00000579136.1_RNA	p.G435G	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			6	1328	-		Breast(137;0.000301)	435			Coil 2.|Rod.		B2R9E0	Silent	SNP	ENST00000251643.4	37	c.1305G>A	CCDS11378.1																																																																																				0.607	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		18	29	0	0	0	1	0	18	29				
C2orf80	389073	broad.mit.edu	37	2	209045982	209045982	+	Missense_Mutation	SNP	C	C	T	rs376481518		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209045982C>T	ENST00000341287.4	-	5	449	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	C2orf80_ENST00000451346.1_Missense_Mutation_p.R66Q|C2orf80_ENST00000453017.1_Missense_Mutation_p.R85Q	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	85										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CATAGCTTCTCGTTCTCTACG	0.333																																						ENST00000341287.4																			0				endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						c.(253-255)cGa>cAa		chromosome 2 open reading frame 80							124.0	114.0	117.0					2																	209045982		1831	4080	5911	SO:0001583	missense	389073							g.chr2:209045982C>T	AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"""gonad development associated 1"""	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.254G>A	2.37:g.209045982C>T	ENSP00000343171:p.Arg85Gln					C2orf80_ENST00000453017.1_Missense_Mutation_p.R85Q|C2orf80_ENST00000451346.1_Missense_Mutation_p.R66Q	p.R85Q	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN			5	449	-			85					A6NKZ3	Missense_Mutation	SNP	ENST00000341287.4	37	c.254G>A	CCDS42809.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557133	0.86231	.	.	ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000453017	T;T;T;T	0.57273	0.78;1.3;1.17;0.41	4.97	4.97	0.65823	.	0.000000	0.46145	D	0.000308	T	0.62913	0.2467	L	0.34521	1.04	0.37369	D	0.911532	D	0.89917	1.0	D	0.83275	0.996	T	0.69030	-0.5253	10	0.87932	D	0	-10.5213	15.6009	0.76626	0.0:1.0:0.0:0.0	.	85	Q0P641	CB080_HUMAN	Q	10;85;66;85	ENSP00000389385:R10Q;ENSP00000343171:R85Q;ENSP00000405393:R66Q;ENSP00000397144:R85Q	ENSP00000343171:R85Q	R	-	2	0	C2orf80	208754227	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.668000	0.61568	2.745000	0.94114	0.563000	0.77884	CGA		0.333	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336931.1	NM_001099334		34	11	0	0	0	1	0	34	11				
MFN2	9927	broad.mit.edu	37	1	12064978	12064978	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12064978A>G	ENST00000235329.5	+	14	1811	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V	MFN2_ENST00000444836.1_Missense_Mutation_p.M497V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	497					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCAGCAGGACATGATAGGTTA	0.572																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(1489-1491)Atg>Gtg		mitofusin 2							40.0	35.0	36.0					1																	12064978		2203	4299	6502	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12064978A>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1489A>G	1.37:g.12064978A>G	ENSP00000235329:p.Met497Val					MFN2_ENST00000444836.1_Missense_Mutation_p.M497V	p.M497V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	14	1811	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	497					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.1489A>G	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450619	0.63290	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.83335	-1.71;-1.71	5.79	4.67	0.58626	.	0.036413	0.85682	N	0.000000	D	0.82370	0.5022	M	0.82716	2.605	0.80722	D	1	P	0.42785	0.79	B	0.38327	0.271	T	0.81459	-0.0923	10	0.44086	T	0.13	-21.8675	10.8388	0.46702	0.9268:0.0:0.0732:0.0	.	497	O95140	MFN2_HUMAN	V	497;497;195	ENSP00000416338:M497V;ENSP00000235329:M497V	ENSP00000235329:M497V	M	+	1	0	MFN2	11987565	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.962000	0.93254	1.042000	0.40150	0.454000	0.30748	ATG		0.572	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		11	8	0	0	0	1	0	11	8				
GPR124	25960	broad.mit.edu	37	8	37702243	37702243	+	IGR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37702243G>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Missense_Mutation_p.S342F	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TAAACCTAAGGAATTATTTCC	0.622																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(1024-1026)tCc>tTc		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							48.0	43.0	45.0					8																	37702243		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702243G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702243G>A						GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR	p.S342F	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1145	-		Lung NSC(58;0.118)|all_lung(54;0.195)	342					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1025C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181885	0.21787	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.28	4.41	0.53225	.	0.947145	0.08914	N	0.875370	T	0.30324	0.0761	L	0.44542	1.39	0.25247	N	0.989707	P	0.38642	0.641	B	0.34722	0.188	T	0.12967	-1.0527	9	0.35671	T	0.21	.	8.9521	0.35796	0.1709:0.0:0.8291:0.0	.	342	Q9HAW0	BRF2_HUMAN	F	342;319	.	ENSP00000220659:S342F	S	-	2	0	BRF2	37821401	0.058000	0.20735	0.009000	0.14445	0.470000	0.32858	0.999000	0.29757	1.223000	0.43536	0.655000	0.94253	TCC		0.622	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			23	36	0	0	0	1	0	23	36				
MEF2D	4209	broad.mit.edu	37	1	156438605	156438605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156438605G>A	ENST00000348159.4	-	10	1694	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	MEF2D_ENST00000340875.5_Missense_Mutation_p.S404F|MEF2D_ENST00000368240.2_Missense_Mutation_p.S398F|MEF2D_ENST00000353795.3_Missense_Mutation_p.S359F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S398F|MEF2D_ENST00000464356.2_Missense_Mutation_p.S397F	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	405					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCAGGTGGGACTGTTGCTG	0.617																																						ENST00000348159.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15						c.(1213-1215)tCc>tTc		myocyte enhancer factor 2D							101.0	88.0	92.0					1																	156438605		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156438605G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1214C>T	1.37:g.156438605G>A	ENSP00000271555:p.Ser405Phe					MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.S398F|MEF2D_ENST00000353795.3_Missense_Mutation_p.S359F|MEF2D_ENST00000340875.5_Missense_Mutation_p.S404F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S398F	p.S405F	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN			10	1694	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		405					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.1214C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634396	0.29068	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.60299	0.74;0.2;0.74;0.62;0.74;0.2	3.85	3.85	0.44370	.	1.446230	0.04945	N	0.459212	T	0.15912	0.0383	N	0.08118	0	0.32209	N	0.576835	P;P;B	0.43287	0.802;0.681;0.189	B;B;B	0.34536	0.116;0.185;0.147	T	0.00236	-1.1891	10	0.10377	T	0.69	2.2361	11.1216	0.48293	0.0:0.0:1.0:0.0	.	410;405;398	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	F	405;404;398;359;398;397	ENSP00000271555:S405F;ENSP00000343159:S404F;ENSP00000357223:S398F;ENSP00000344705:S359F;ENSP00000353803:S398F;ENSP00000388505:S397F	ENSP00000343159:S404F	S	-	2	0	MEF2D	154705229	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.718000	0.47236	1.977000	0.57605	0.462000	0.41574	TCC		0.617	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2	NM_005920		27	39	0	0	0	1	0	27	39				
NLGN4X	57502	broad.mit.edu	37	X	5811026	5811026	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:5811026G>A	ENST00000381095.3	-	6	2910	c.2283C>T	c.(2281-2283)acC>acT	p.T761T	NLGN4X_ENST00000381093.2_Silent_p.T781T|NLGN4X_ENST00000538097.1_Silent_p.T761T|NLGN4X_ENST00000275857.6_Silent_p.T761T|NLGN4X_ENST00000381092.1_Silent_p.T761T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	761					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCGTGAGGGTGTAGTCTG	0.562																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2281-2283)acC>acT		neuroligin 4, X-linked							238.0	187.0	204.0					X																	5811026		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811026G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2283C>T	X.37:g.5811026G>A						NLGN4X_ENST00000381092.1_Silent_p.T761T|NLGN4X_ENST00000275857.6_Silent_p.T761T|NLGN4X_ENST00000538097.1_Silent_p.T761T|NLGN4X_ENST00000381093.2_Silent_p.T781T	p.T761T	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2910	-			761					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2283C>T	CCDS14126.1																																																																																				0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		56	72	0	0	0	1	0	56	72				
FGD5	152273	broad.mit.edu	37	3	14963955	14963955	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963955C>T	ENST00000285046.5	+	15	3817	c.3707C>T	c.(3706-3708)cCc>cTc	p.P1236L	FGD5_ENST00000543601.1_Missense_Mutation_p.P995L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGAGAGGCCCCCCACCCTG	0.597																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3706-3708)cCc>cTc		FYVE, RhoGEF and PH domain containing 5							33.0	40.0	38.0					3																	14963955		2124	4221	6345	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14963955C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3707C>T	3.37:g.14963955C>T	ENSP00000285046:p.Pro1236Leu					FGD5_ENST00000543601.1_Missense_Mutation_p.P995L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	p.P1236L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			15	3817	+			1236					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3707C>T	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591237	0.46214	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76448	-1.02;-0.87	4.42	3.53	0.40419	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (1);	0.125894	0.36101	N	0.002787	T	0.68659	0.3025	L	0.45051	1.395	0.58432	D	0.999999	B;B	0.22746	0.074;0.043	B;B	0.20577	0.03;0.03	T	0.62863	-0.6764	10	0.35671	T	0.21	-15.3089	11.109	0.48221	0.0:0.9062:0.0:0.0938	.	995;1236	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	L	1236;995	ENSP00000285046:P1236L;ENSP00000445949:P995L	ENSP00000285046:P1236L	P	+	2	0	FGD5	14938959	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	5.459000	0.66685	0.847000	0.35167	0.485000	0.47835	CCC		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		2	0	0	0	0	1	0	2	0				
SYNM	23336	broad.mit.edu	37	15	99671501	99671501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99671501C>T	ENST00000560674.1	+	4	2547	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.P978L|SYNM_ENST00000328642.7_Missense_Mutation_p.P978L			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	979	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CAGGGTGGGCCGGGGAGCGTT	0.632																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(2932-2934)cCg>cTg		synemin, intermediate filament protein							39.0	45.0	43.0					15																	99671501		2042	4172	6214	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99671501C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2078C>T	15.37:g.99671501C>T	ENSP00000453040:p.Pro693Leu					SYNM_ENST00000328642.7_Missense_Mutation_p.P978L|SYNM_ENST00000560674.1_Missense_Mutation_p.P693L|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	p.P978L	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	3053	+			979			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.2933C>T		.	.	.	.	.	.	.	.	.	.	c	6.150	0.395918	0.11638	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.83992	-1.77;-1.79	5.12	1.01	0.19927	.	.	.	.	.	T	0.68897	0.3051	.	.	.	0.09310	N	1	B;B	0.25312	0.123;0.032	B;B	0.12837	0.008;0.005	T	0.57528	-0.7796	8	0.49607	T	0.09	.	2.1842	0.03882	0.1348:0.5123:0.1309:0.222	.	979;978	O15061;C9JIE4	SYNEM_HUMAN;.	L	978	ENSP00000336775:P978L;ENSP00000330469:P978L	ENSP00000330469:P978L	P	+	2	0	SYNM	97489024	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.545000	0.23268	0.348000	0.23949	-0.119000	0.15052	CCG		0.632	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		3	11	0	0	0	1	0	3	11				
HFM1	164045	broad.mit.edu	37	1	91850783	91850783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:91850783C>T	ENST00000370425.3	-	6	861	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	255					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAACCATTTTCTGTTACCTCT	0.264																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(763-765)Gaa>Aaa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							34.0	38.0	37.0					1																	91850783		2196	4284	6480	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91850783C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.763G>A	1.37:g.91850783C>T	ENSP00000359454:p.Glu255Lys					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.E255K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	6	861	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	255					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.763G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758871	0.15846	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.58940	0.3	6.07	3.01	0.34805	.	1.123250	0.07374	U	0.886301	T	0.20495	0.0493	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.36089	-0.9762	10	0.11485	T	0.65	.	4.6577	0.12626	0.1531:0.6142:0.1473:0.0854	.	255;255	B7ZM16;A2PYH4	.;HFM1_HUMAN	K	255;288;114	ENSP00000359454:E255K	ENSP00000359454:E255K	E	-	1	0	HFM1	91623371	0.001000	0.12720	0.001000	0.08648	0.138000	0.21146	0.625000	0.24477	0.323000	0.23307	0.655000	0.94253	GAA		0.264	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		17	52	0	0	0	1	0	17	52				
F2	2147	broad.mit.edu	37	11	46748059	46748059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:46748059G>A	ENST00000311907.5	+	8	942	c.886G>A	c.(886-888)Gag>Aag	p.E296K	F2_ENST00000530231.1_Missense_Mutation_p.E296K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	296					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GGAGGCCGTGGAGGAGGAGAC	0.622																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(886-888)Gag>Aag		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						44.0	42.0	43.0					11																	46748059		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46748059G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.886G>A	11.37:g.46748059G>A	ENSP00000308541:p.Glu296Lys					F2_ENST00000530231.1_Missense_Mutation_p.E296K	p.E296K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	8	942	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	296					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.886G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354641	0.41700	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.80123	-1.34;-1.34;-1.34	4.49	3.55	0.40652	Thrombin light chain (1);	1.549080	0.03367	N	0.198367	T	0.75620	0.3874	L	0.29908	0.895	0.09310	N	1	B	0.20459	0.045	B	0.18263	0.021	T	0.62343	-0.6874	10	0.87932	D	0	.	11.6532	0.51301	0.0:0.18:0.82:0.0	.	296	P00734	THRB_HUMAN	K	296;296;286	ENSP00000308541:E296K;ENSP00000433907:E296K;ENSP00000387413:E286K	ENSP00000308541:E296K	E	+	1	0	F2	46704635	0.974000	0.33945	0.006000	0.13384	0.013000	0.08279	3.036000	0.49767	0.957000	0.37930	0.557000	0.71058	GAG		0.622	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			7	20	0	0	0	1	0	7	20				
MVP	9961	broad.mit.edu	37	16	29853078	29853078	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29853078C>T	ENST00000357402.5	+	9	1491	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Silent_p.P451P	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	451					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCTTGGCGCCCCGGAACAAGA	0.662																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1351-1353)ccC>ccT		major vault protein							44.0	37.0	39.0					16																	29853078		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29853078C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1353C>T	16.37:g.29853078C>T						MVP_ENST00000395353.1_Silent_p.P451P|MVP_ENST00000452209.2_3'UTR	p.P451P	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			9	1491	+			451					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1353C>T	CCDS10656.1																																																																																				0.662	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		10	16	0	0	0	1	0	10	16				
NIPAL3	57185	broad.mit.edu	37	1	24790575	24790575	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:24790575C>T	ENST00000374399.4	+	11	1354	c.986C>T	c.(985-987)cCa>cTa	p.P329L	NIPAL3_ENST00000003912.3_Missense_Mutation_p.P247L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.P329L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	329						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						AAGCCCATTCCATTTGAGCCC	0.463																																						ENST00000003912.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						c.(739-741)cCa>cTa		NIPA-like domain containing 3							125.0	105.0	112.0					1																	24790575		2203	4300	6503	SO:0001583	missense	57185					integral to membrane		g.chr1:24790575C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.986C>T	1.37:g.24790575C>T	ENSP00000363520:p.Pro329Leu					NIPAL3_ENST00000374399.4_Missense_Mutation_p.P329L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.P329L	p.P247L			Q6P499	NPAL3_HUMAN			12	1455	+			329					A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	c.740C>T	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572284	0.65765	.	.	ENSG00000001461	ENST00000374399;ENST00000003912;ENST00000339255	D;D;D	0.90069	-2.6;-2.32;-2.61	5.95	5.95	0.96441	.	0.211864	0.52532	D	0.000061	D	0.85186	0.5639	L	0.59436	1.845	0.80722	D	1	P;P	0.46064	0.842;0.872	B;B	0.34418	0.084;0.182	D	0.83509	0.0079	10	0.15499	T	0.54	-16.3294	19.3683	0.94473	0.0:1.0:0.0:0.0	.	329;329	Q6P499;A6NN97	NPAL3_HUMAN;.	L	329;247;329	ENSP00000363520:P329L;ENSP00000003912:P247L;ENSP00000343549:P329L	ENSP00000003912:P247L	P	+	2	0	NIPAL3	24663162	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	3.226000	0.51254	2.822000	0.97130	0.563000	0.77884	CCA		0.463	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		6	19	0	0	0	1	0	6	19				
OR2L2	26246	broad.mit.edu	37	1	248202350	248202350	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248202350C>T	ENST00000366479.2	+	1	877	c.781C>T	c.(781-783)Cca>Tca	p.P261S	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTATGTACGTCCAAGATCCCT	0.493																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(781-783)Cca>Tca		olfactory receptor, family 2, subfamily L, member 2							147.0	133.0	137.0					1																	248202350		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202350C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.781C>T	1.37:g.248202350C>T	ENSP00000355435:p.Pro261Ser					OR2L13_ENST00000366478.2_Intron	p.P261S	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	877	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		261					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.781C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921176	0.33908	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	0.944	0.19537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007923	T	0.00384	0.0012	M	0.82132	2.575	0.09310	N	1	P	0.49783	0.928	P	0.58577	0.841	T	0.41251	-0.9519	10	0.87932	D	0	.	6.8934	0.24243	0.0:0.8423:0.0:0.1577	.	261	Q8NH16	OR2L2_HUMAN	S	261	ENSP00000355435:P261S	ENSP00000355435:P261S	P	+	1	0	OR2L2	246268973	0.002000	0.14202	0.001000	0.08648	0.136000	0.21042	0.510000	0.22723	0.037000	0.15575	0.194000	0.17425	CCA		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		38	44	0	0	0	1	0	38	44				
FAM47A	158724	broad.mit.edu	37	X	34149346	34149346	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149346G>A	ENST00000346193.3	-	1	1101	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	350										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTCCGAGCGGAGACTGGACC	0.657																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1048-1050)ctC>ctT		family with sequence similarity 47, member A							23.0	25.0	24.0					X																	34149346		2189	4294	6483	SO:0001819	synonymous_variant	158724							g.chrX:34149346G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1050C>T	X.37:g.34149346G>A							p.L350L	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1101	-			350					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.1050C>T	CCDS43926.1																																																																																				0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		24	31	0	0	0	1	0	24	31				
KLHL4	56062	broad.mit.edu	37	X	86887299	86887299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86887299G>A	ENST00000373119.4	+	7	1559	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	KLHL4_ENST00000373114.4_Missense_Mutation_p.A472T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	472						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTTGGAGTCGCAGTTATTGA	0.408													G|||	1	0.000264901	0.0008	0.0	3775	,	,		12750	0.0		0.0	False		,,,				2504	0.0					ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1414-1416)Gca>Aca		kelch-like family member 4							116.0	98.0	105.0					X																	86887299		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887299G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1414G>A	X.37:g.86887299G>A	ENSP00000362211:p.Ala472Thr					KLHL4_ENST00000373114.4_Missense_Mutation_p.A472T	p.A472T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1559	+			472					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1414G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218083	0.79352	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.80480	-1.38;-1.38	5.32	3.51	0.40186	Galactose oxidase, beta-propeller (1);	0.058247	0.64402	D	0.000002	D	0.86748	0.6007	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.65874	0.939;0.937	D	0.85925	0.1448	10	0.56958	D	0.05	.	12.8097	0.57634	0.0:0.0:0.7024:0.2976	.	472;472	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	T	472	ENSP00000362211:A472T;ENSP00000362206:A472T	ENSP00000362206:A472T	A	+	1	0	KLHL4	86773955	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	6.053000	0.71089	0.426000	0.26116	-0.376000	0.06991	GCA		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			25	42	0	0	0	1	0	25	42				
ITIH4	3700	broad.mit.edu	37	3	52858010	52858010	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858010G>A	ENST00000266041.4	-	10	1278	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N	ITIH4_ENST00000485816.1_Silent_p.N394N|ITIH4_ENST00000406595.1_Silent_p.N394N|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Silent_p.N394N|ITIH4_ENST00000434759.3_Silent_p.N306N|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	394	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCTCCTGGGGTTAGTCTCCC	0.547																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1180-1182)aaC>aaT		inter-alpha-trypsin inhibitor heavy chain family, member 4							44.0	44.0	44.0					3																	52858010		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858010G>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1182C>T	3.37:g.52858010G>A						ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Silent_p.N394N|ITIH4_ENST00000434759.3_Silent_p.N306N|ITIH4_ENST00000346281.5_Silent_p.N394N|ITIH4_ENST00000485816.1_Silent_p.N394N	p.N394N	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1278	-			394			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.1182C>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262212	0.23051	.	.	ENSG00000055955	ENST00000441637	.	.	.	4.46	0.841	0.18918	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50659	-0.8802	4	.	.	.	-15.7712	9.5172	0.39113	0.4141:0.0:0.5859:0.0	.	.	.	.	S	252	.	.	P	-	1	0	ITIH4	52833050	0.383000	0.25156	0.336000	0.25522	0.136000	0.21042	0.122000	0.15687	0.114000	0.18032	0.407000	0.27541	CCC		0.547	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		18	27	0	0	0	1	0	18	27				
ENKD1	84080	broad.mit.edu	37	16	67700134	67700134	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67700134C>T	ENST00000243878.4	-	2	441	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ENKD1_ENST00000602644.1_Silent_p.L40L|ENKD1_ENST00000602409.1_5'Flank|C16orf86_ENST00000403458.4_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	40						cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											TCAGCAAGTCCAGCTTCAGCG	0.736																																						ENST00000243878.4																			0											c.(118-120)ctG>ctA		enkurin domain containing 1							21.0	25.0	24.0					16																	67700134		2190	4285	6475	SO:0001819	synonymous_variant	84080							g.chr16:67700134C>T	BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 48"""	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.120G>A	16.37:g.67700134C>T						ENKD1_ENST00000602644.1_Silent_p.L40L	p.L40L	NM_032140.1	NP_115516.1					2	441	-								Q6UWD7	Silent	SNP	ENST00000243878.4	37	c.120G>A	CCDS10844.1																																																																																				0.736	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268884.1	NM_032140		12	31	0	0	0	1	0	12	31				
KIAA0101	9768	broad.mit.edu	37	15	64669077	64669077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:64669077G>A	ENST00000300035.4	-	3	293	c.155C>T	c.(154-156)cCc>cTc	p.P52L	KIAA0101_ENST00000559519.1_Missense_Mutation_p.P25L|KIAA0101_ENST00000558008.1_Missense_Mutation_p.P52L|KIAA0101_ENST00000380258.2_Intron	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	52					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CACGCAAACGGGGTTCCCTCC	0.378																																						ENST00000300035.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(154-156)cCc>cTc		KIAA0101							45.0	46.0	45.0					15																	64669077		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64669077G>A	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.155C>T	15.37:g.64669077G>A	ENSP00000300035:p.Pro52Leu					KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000558008.1_Missense_Mutation_p.P52L|KIAA0101_ENST00000560234.1_Missense_Mutation_p.P53S|KIAA0101_ENST00000559519.1_Missense_Mutation_p.P25L	p.P52L	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN			3	293	-			52					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.155C>T	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820970	0.90873	.	.	ENSG00000166803	ENST00000300035	T	0.54866	0.55	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.76203	-0.3045	10	0.87932	D	0	-9.6269	18.078	0.89433	0.0:0.0:1.0:0.0	.	52	Q15004	PAF_HUMAN	L	52	ENSP00000300035:P52L	ENSP00000300035:P52L	P	-	2	0	KIAA0101	62456130	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.605000	0.90883	2.566000	0.86566	0.585000	0.79938	CCC		0.378	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		17	31	0	0	0	1	0	17	31				
SLC26A1	10861	broad.mit.edu	37	4	985327	985327	+	Silent	SNP	G	G	A	rs368871126		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:985327G>A	ENST00000361661.2	-	3	542	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Silent_p.P55P|SLC26A1_ENST00000398516.2_Silent_p.P55P|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	55					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGCGTGGCGGGGAGCAGGT	0.692																																						ENST00000361661.2																			0				central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8						c.(163-165)ccC>ccT		solute carrier family 26 (anion exchanger), member 1		G	,,,	0,4398		0,0,2199	27.0	26.0	27.0		,165,165,165	-7.7	0.0	4		27	1,8585		0,1,4292	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,,,	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	,,,	,55/702,55/225,55/702	985327	1,12983	2199	4293	6492	SO:0001819	synonymous_variant	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:985327G>A	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.165C>T	4.37:g.985327G>A						IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.P55P|SLC26A1_ENST00000398520.2_Silent_p.P55P|IDUA_ENST00000453894.1_Intron	p.P55P	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		3	542	-			55					A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	c.165C>T	CCDS33934.1																																																																																				0.692	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		13	22	0	0	0	1	0	13	22				
VCAN	1462	broad.mit.edu	37	5	82817211	82817211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82817211G>A	ENST00000265077.3	+	7	3651	c.3086G>A	c.(3085-3087)gGa>gAa	p.G1029E	VCAN_ENST00000342785.4_Missense_Mutation_p.G1029E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G981E|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1029	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ATCACAGAGGGAACAACTCAG	0.453																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(3085-3087)gGa>gAa		versican							39.0	39.0	39.0					5																	82817211		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817211G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3086G>A	5.37:g.82817211G>A	ENSP00000265077:p.Gly1029Glu					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1029E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G981E	p.G1029E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3651	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1029			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3086G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.573232	0.00008	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84730	-1.78;-1.86;-1.89	5.23	-10.5	0.00291	.	1.913640	0.02272	N	0.068526	T	0.70422	0.3222	L	0.34521	1.04	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.09377	0.003;0.004	T	0.57883	-0.7734	10	0.11485	T	0.65	.	5.6945	0.17847	0.4967:0.2019:0.2336:0.0677	.	1029;1029	P13611-3;P13611	.;CSPG2_HUMAN	E	1029;1029;981	ENSP00000265077:G1029E;ENSP00000342768:G1029E;ENSP00000425959:G981E	ENSP00000265077:G1029E	G	+	2	0	VCAN	82852967	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.455000	0.02379	-2.993000	0.00279	-1.583000	0.00853	GGA		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		17	25	0	0	0	1	0	17	25				
TUBA3C	7278	broad.mit.edu	37	13	19751273	19751273	+	Missense_Mutation	SNP	C	C	T	rs146654670		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:19751273C>T	ENST00000400113.3	-	4	954	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	284					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E284K(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GACAGCTGCTCGTGGTAGGCC	0.607																																						ENST00000400113.3																			1	Substitution - Missense(1)	p.E284K(1)	skin(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(850-852)Gag>Aag		tubulin, alpha 3c							144.0	129.0	134.0					13																	19751273		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751273C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.850G>A	13.37:g.19751273C>T	ENSP00000382982:p.Glu284Lys						p.E284K	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	954	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	284					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.850G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.46	1.646000	0.29246	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.81659	-1.52	1.19	0.276	0.15663	.	0.000000	0.47852	U	0.000216	T	0.80665	0.4666	.	.	.	0.38459	D	0.947164	.	.	.	.	.	.	T	0.77864	-0.2429	7	0.87932	D	0	.	5.6828	0.17786	0.0:0.7921:0.0:0.2079	.	.	.	.	K	284	ENSP00000382982:E284K	ENSP00000354037:E284K	E	-	1	0	TUBA3C	18649273	1.000000	0.71417	0.996000	0.52242	0.472000	0.32918	4.655000	0.61476	0.073000	0.16731	0.175000	0.17021	GAG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		46	89	0	0	0	1	0	46	89				
GFRA1	2674	broad.mit.edu	37	10	117884974	117884974	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884974G>A	ENST00000355422.6	-	6	1078	c.528C>T	c.(526-528)acC>acT	p.T176T	GFRA1_ENST00000439649.3_Silent_p.T171T|GFRA1_ENST00000369236.1_Silent_p.T171T|GFRA1_ENST00000544592.1_Silent_p.T55T	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGTGCACGGGGTGATGTACG	0.587																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(511-513)acC>acT		GDNF family receptor alpha 1							83.0	69.0	73.0					10																	117884974		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884974G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.528C>T	10.37:g.117884974G>A						GFRA1_ENST00000544592.1_Silent_p.T55T|GFRA1_ENST00000355422.6_Silent_p.T176T|GFRA1_ENST00000369236.1_Silent_p.T171T	p.T171T	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	880	-		Lung NSC(174;0.21)	176					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.513C>T	CCDS44481.1																																																																																				0.587	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		19	36	0	0	0	1	0	19	36				
SPDYC	387778	broad.mit.edu	37	11	64938844	64938844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64938844G>A	ENST00000377185.2	+	2	155	c.73G>A	c.(73-75)Gac>Aac	p.D25N	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGACTCCCAAGACCCCACCAC	0.582																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(73-75)Gac>Aac		speedy/RINGO cell cycle regulator family member C							85.0	86.0	86.0					11																	64938844		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64938844G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.73G>A	11.37:g.64938844G>A	ENSP00000366390:p.Asp25Asn						p.D25N	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			2	155	+			25						Missense_Mutation	SNP	ENST00000377185.2	37	c.73G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440708	0.63067	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.31	3.38	0.38709	.	1.051650	0.07688	U	0.938150	T	0.31009	0.0783	L	0.29908	0.895	0.09310	N	1	B	0.29432	0.244	B	0.24701	0.055	T	0.19647	-1.0299	9	0.27082	T	0.32	.	9.3788	0.38299	0.0:0.0:0.7871:0.2129	.	25	Q5MJ68	SPDYC_HUMAN	N	25	.	ENSP00000366390:D25N	D	+	1	0	SPDYC	64695420	0.017000	0.18338	0.002000	0.10522	0.013000	0.08279	2.355000	0.44107	1.007000	0.39238	0.655000	0.94253	GAC		0.582	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		41	83	0	0	0	1	0	41	83				
CD163	9332	broad.mit.edu	37	12	7654044	7654044	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7654044C>T	ENST00000359156.4	-	3	350	c.148G>A	c.(148-150)Gag>Aag	p.E50K	CD163_ENST00000396620.3_Missense_Mutation_p.E50K|CD163_ENST00000432237.2_Missense_Mutation_p.E50K|CD163_ENST00000541972.1_Missense_Mutation_p.E38K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	50					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGCCTCAGCTCCTTGTCTGTT	0.438																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(148-150)Gag>Aag		CD163 molecule							127.0	115.0	119.0					12																	7654044		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7654044C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.148G>A	12.37:g.7654044C>T	ENSP00000352071:p.Glu50Lys					CD163_ENST00000432237.2_Missense_Mutation_p.E50K|CD163_ENST00000396620.3_Missense_Mutation_p.E50K|CD163_ENST00000541972.1_Missense_Mutation_p.E38K	p.E50K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	350	-			50					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.148G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994335	0.35226	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.15	2.29	0.28610	Speract/scavenger receptor-related (1);	0.702321	0.13378	N	0.392346	T	0.18299	0.0439	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.19200	0.034;0.003;0.016	B;B;B	0.21546	0.035;0.004;0.023	T	0.18366	-1.0339	10	0.46703	T	0.11	.	3.9035	0.09172	0.0:0.5167:0.21:0.2733	.	50;50;50	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	50;38;50;50	ENSP00000352071:E50K;ENSP00000444071:E38K;ENSP00000379863:E50K;ENSP00000403885:E50K	ENSP00000352071:E50K	E	-	1	0	CD163	7545311	0.057000	0.20700	0.103000	0.21229	0.049000	0.14656	0.280000	0.18790	0.808000	0.34231	0.655000	0.94253	GAG		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		39	54	0	0	0	1	0	39	54				
CHGB	1114	broad.mit.edu	37	20	5903718	5903718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:5903718G>A	ENST00000378961.4	+	4	1132	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	310						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCCCAGGAGGAATCTGAGGA	0.572																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(928-930)Gaa>Aaa		chromogranin B (secretogranin 1)							30.0	32.0	31.0					20																	5903718		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903718G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.928G>A	20.37:g.5903718G>A	ENSP00000368244:p.Glu310Lys						p.E310K	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	1132	+			310					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.928G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	4.994	0.184667	0.09495	.	.	ENSG00000089199	ENST00000378961	T	0.04275	3.66	4.59	1.29	0.21616	.	1.058540	0.07350	N	0.882221	T	0.06872	0.0175	M	0.66939	2.045	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.43114	-0.9411	10	0.56958	D	0.05	-0.0093	2.6676	0.05057	0.18:0.3539:0.3413:0.1248	.	310	P05060	SCG1_HUMAN	K	310	ENSP00000368244:E310K	ENSP00000368244:E310K	E	+	1	0	CHGB	5851718	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.166000	0.19597	-0.251000	0.11542	GAA		0.572	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		12	26	0	0	0	1	0	12	26				
CNKSR2	22866	broad.mit.edu	37	X	21609288	21609288	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609288C>T	ENST00000379510.3	+	15	1842	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S	CNKSR2_ENST00000279451.4_Silent_p.S602S|CNKSR2_ENST00000425654.2_Silent_p.S572S|CNKSR2_ENST00000543067.1_Silent_p.S553S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGATGCATCCCTTTATTGGT	0.348																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1714-1716)tcC>tcT		connector enhancer of kinase suppressor of Ras 2							97.0	94.0	95.0					X																	21609288		2203	4300	6503	SO:0001819	synonymous_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609288C>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1806C>T	X.37:g.21609288C>T						CNKSR2_ENST00000379510.3_Silent_p.S602S|CNKSR2_ENST00000543067.1_Silent_p.S553S|CNKSR2_ENST00000279451.4_Silent_p.S602S	p.S572S	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			14	2196	+			602			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	c.1716C>T	CCDS14198.1																																																																																				0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		50	69	0	0	0	1	0	50	69				
SIRT4	23409	broad.mit.edu	37	12	120750389	120750389	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120750389G>C	ENST00000202967.4	+	3	687	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTCAGAGGAGCAAGTCCG	0.577																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(628-630)Gag>Cag		sirtuin 4							63.0	59.0	61.0					12																	120750389		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750389G>C	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.628G>C	12.37:g.120750389G>C	ENSP00000202967:p.Glu210Gln					SIRT4_ENST00000537892.1_3'UTR	p.E210Q	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			3	687	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		210			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.628G>C	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475105	0.63737	.	.	ENSG00000089163	ENST00000202967	T	0.18502	2.21	4.5	4.5	0.54988	.	0.047102	0.85682	D	0.000000	T	0.42337	0.1198	M	0.78049	2.395	0.58432	D	0.999998	D	0.57257	0.979	P	0.62740	0.906	T	0.41088	-0.9528	10	0.52906	T	0.07	-26.0044	18.1323	0.89605	0.0:0.0:1.0:0.0	.	210	Q9Y6E7	SIRT4_HUMAN	Q	210	ENSP00000202967:E210Q	ENSP00000202967:E210Q	E	+	1	0	SIRT4	119234772	1.000000	0.71417	0.997000	0.53966	0.924000	0.55760	7.483000	0.81158	2.442000	0.82660	0.585000	0.79938	GAG		0.577	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		24	58	0	0	0	1	0	24	58				
C8orf74	203076	broad.mit.edu	37	8	10557944	10557944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10557944G>C	ENST00000304519.5	+	4	877	c.848G>C	c.(847-849)aGa>aCa	p.R283T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	283										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AAGCCCCAAAGAGCGAGCAAA	0.597																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(847-849)aGa>aCa		chromosome 8 open reading frame 74							43.0	52.0	49.0					8																	10557944		1992	4174	6166	SO:0001583	missense	203076							g.chr8:10557944G>C	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.848G>C	8.37:g.10557944G>C	ENSP00000307129:p.Arg283Thr					RP1L1_ENST00000329335.3_Intron	p.R283T	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	877	+			283					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.848G>C	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490253	0.26686	.	.	ENSG00000171060	ENST00000304519	T	0.33438	1.41	4.15	-1.39	0.08997	.	0.417116	0.22913	N	0.054111	T	0.15869	0.0382	N	0.22421	0.69	0.09310	N	1	P	0.36535	0.557	B	0.35971	0.215	T	0.18085	-1.0348	10	0.31617	T	0.26	.	7.3865	0.26884	0.5723:0.0:0.4277:0.0	.	283	Q6P047	CH074_HUMAN	T	283	ENSP00000307129:R283T	ENSP00000307129:R283T	R	+	2	0	C8orf74	10595354	0.137000	0.22531	0.001000	0.08648	0.001000	0.01503	1.191000	0.32138	-0.158000	0.11040	-0.459000	0.05422	AGA		0.597	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		3	14	0	0	0	1	0	3	14				
TOP2A	7153	broad.mit.edu	37	17	38557239	38557239	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38557239G>A	ENST00000423485.1	-	21	2685	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	843					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGAATAATAGGAATGTACCAT	0.408																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2527-2529)Cct>Tct		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						188.0	176.0	180.0					17																	38557239		1935	4140	6075	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38557239G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2527C>T	17.37:g.38557239G>A	ENSP00000411532:p.Pro843Ser						p.P843S	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		21	2685	-		Breast(137;0.00328)	843					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2527C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614482	0.87359	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.30981	1.51	5.13	5.13	0.70059	DNA topoisomerase, type IIA, subunit A/C-terminal (2);DNA topoisomerase, type IIA, subunit A/ C-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67304	-0.5704	10	0.87932	D	0	.	18.935	0.92582	0.0:0.0:1.0:0.0	.	843	P11388	TOP2A_HUMAN	S	843;923;866;879	ENSP00000411532:P843S	ENSP00000269577:P923S	P	-	1	0	TOP2A	35810765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.779000	0.99018	2.556000	0.86216	0.467000	0.42956	CCT		0.408	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			51	91	0	0	0	1	0	51	91				
C19orf57	79173	broad.mit.edu	37	19	14000436	14000436	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000436G>A	ENST00000586783.1	-	5	1232	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	C19orf57_ENST00000454313.1_Silent_p.V411V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V411V			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	411					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCCACTAGGACATCGCCGG	0.652																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1231-1233)gtC>gtT		chromosome 19 open reading frame 57							34.0	35.0	34.0					19																	14000436		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14000436G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1233C>T	19.37:g.14000436G>A						C19orf57_ENST00000586783.1_Silent_p.V411V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V411V	p.V411V			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1291	-			411					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.1233C>T																																																																																					0.652	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		19	38	0	0	0	1	0	19	38				
COQ9	57017	broad.mit.edu	37	16	57486715	57486715	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:57486715A>T	ENST00000262507.6	+	3	314	c.245A>T	c.(244-246)tAt>tTt	p.Y82F	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.Y82F|COQ9_ENST00000567933.1_Missense_Mutation_p.Y82F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	82					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGTCTCAGGTATACAGACCAG	0.572																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(244-246)tAt>tTt		coenzyme Q9							116.0	103.0	107.0					16																	57486715		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486715A>T	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.245A>T	16.37:g.57486715A>T	ENSP00000262507:p.Tyr82Phe					COQ9_ENST00000567072.1_Missense_Mutation_p.Y82F|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Y82F	p.Y82F	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	314	+			82					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.245A>T	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.967651	0.34754	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.2	5.2	0.72013	.	0.313154	0.35903	N	0.002910	T	0.75162	0.3812	M	0.79805	2.47	0.35042	D	0.759859	P;P;D;P;P	0.89917	0.782;0.944;1.0;0.512;0.782	B;P;D;B;B	0.83275	0.299;0.753;0.996;0.126;0.299	T	0.80286	-0.1446	9	0.25106	T	0.35	-10.2212	14.2496	0.66011	1.0:0.0:0.0:0.0	.	82;82;82;82;82	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	F	82	.	ENSP00000262507:Y82F	Y	+	2	0	COQ9	56044216	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.329000	0.52060	1.967000	0.57214	0.528000	0.53228	TAT		0.572	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		39	78	0	0	0	1	0	39	78				
MISP	126353	broad.mit.edu	37	19	757525	757525	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:757525C>A	ENST00000215582.6	+	2	682	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	193					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGATTGACTTCCTGGCAGCGA	0.682																																						ENST00000215582.6																			0											c.(577-579)ttC>ttA		mitotic spindle positioning							25.0	30.0	29.0					19																	757525		2201	4299	6500	SO:0001583	missense	126353							g.chr19:757525C>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.579C>A	19.37:g.757525C>A	ENSP00000215582:p.Phe193Leu						p.F193L	NM_173481.2	NP_775752.1					2	682	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.579C>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209724	0.79240	.	.	ENSG00000099812	ENST00000215582	T	0.42513	0.97	4.4	2.25	0.28309	.	0.367388	0.26991	N	0.021476	T	0.51278	0.1665	M	0.66939	2.045	0.38593	D	0.950484	D	0.56035	0.974	P	0.57009	0.811	T	0.56232	-0.8013	10	0.87932	D	0	-33.3489	7.4053	0.26987	0.0:0.7954:0.0:0.2046	.	193	Q8IVT2	CS021_HUMAN	L	193	ENSP00000215582:F193L	ENSP00000215582:F193L	F	+	3	2	C19orf21	708525	0.947000	0.32204	0.985000	0.45067	0.935000	0.57460	1.593000	0.36686	0.845000	0.35118	0.313000	0.20887	TTC		0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		6	0	1	0	0.248553	1	0.248553	6	0				
USP6NL	9712	broad.mit.edu	37	10	11505362	11505362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505362G>A	ENST00000609104.1	-	15	1959	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L	USP6NL_ENST00000277575.5_Missense_Mutation_p.P539L|USP6NL_ENST00000379237.2_Missense_Mutation_p.P545L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	522					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CACCTCGGCAGGACCTGGGAC	0.607																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1564-1566)cCt>cTt		USP6 N-terminal like							105.0	108.0	107.0					10																	11505362		2075	4198	6273	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505362G>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1565C>T	10.37:g.11505362G>A	ENSP00000476462:p.Pro522Leu					USP6NL_ENST00000277575.5_Missense_Mutation_p.P539L	p.P522L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1959	-			522					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1565C>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552096	0.65311	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04917	3.53;3.54	5.79	5.79	0.91817	.	0.672519	0.14304	N	0.328102	T	0.08537	0.0212	L	0.39898	1.24	0.46437	D	0.999045	B;P	0.39480	0.201;0.675	B;B	0.38106	0.051;0.265	T	0.22941	-1.0202	10	0.46703	T	0.11	.	15.4995	0.75684	0.0:0.1377:0.8622:0.0	.	522;539	Q92738;Q92738-2	US6NL_HUMAN;.	L	522;539;522	ENSP00000277575:P539L;ENSP00000368539:P522L	ENSP00000277575:P539L	P	-	2	0	USP6NL	11545368	1.000000	0.71417	0.012000	0.15200	0.021000	0.10359	6.524000	0.73791	2.743000	0.94032	0.462000	0.41574	CCT		0.607	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		53	115	0	0	0	1	0	53	115				
GPRASP1	9737	broad.mit.edu	37	X	101911582	101911582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101911582G>A	ENST00000361600.5	+	5	3542	c.2741G>A	c.(2740-2742)gGa>gAa	p.G914E	GPRASP1_ENST00000444152.1_Missense_Mutation_p.G914E|GPRASP1_ENST00000537097.1_Missense_Mutation_p.G914E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G914E	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	914	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGGATGGAAAAGAAGTC	0.478																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2740-2742)gGa>gAa		G protein-coupled receptor associated sorting protein 1							97.0	96.0	96.0					X																	101911582		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911582G>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2741G>A	X.37:g.101911582G>A	ENSP00000355146:p.Gly914Glu					GPRASP1_ENST00000444152.1_Missense_Mutation_p.G914E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G914E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G914E	p.G914E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3554	+			914			Glu-rich.|OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.2741G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	7.451	0.642687	0.14451	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	2.5	-2.71	0.05986	.	.	.	.	.	T	0.03011	0.0089	N	0.14661	0.345	0.20563	N	0.999887	B	0.30068	0.267	B	0.19666	0.026	T	0.44314	-0.9336	9	0.06891	T	0.86	0.0086	5.283	0.15686	0.4314:0.2644:0.3042:0.0	.	914	Q5JY77	GASP1_HUMAN	E	914	ENSP00000393691:G914E;ENSP00000409420:G914E;ENSP00000355146:G914E;ENSP00000445683:G914E	ENSP00000355146:G914E	G	+	2	0	GPRASP1	101798238	0.000000	0.05858	0.549000	0.28204	0.378000	0.30076	-0.878000	0.04192	-0.852000	0.04141	0.292000	0.19580	GGA		0.478	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		61	90	0	0	0	1	0	61	90				
REL	5966	broad.mit.edu	37	2	61149648	61149648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:61149648C>T	ENST00000295025.8	+	11	2158	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	REL_ENST00000394479.3_Missense_Mutation_p.P581L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	613					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GACTCCTTTCCATATGAATTT	0.333			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1837-1839)cCa>cTa		v-rel avian reticuloendotheliosis viral oncogene homolog							35.0	35.0	35.0					2																	61149648		2203	4299	6502	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149648C>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1838C>T	2.37:g.61149648C>T	ENSP00000295025:p.Pro613Leu					REL_ENST00000394479.3_Missense_Mutation_p.P581L	p.P613L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	2158	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	613					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1838C>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049145	0.19827	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.41758	1.0;0.99	5.74	3.76	0.43208	.	1.178000	0.05983	N	0.644670	T	0.28797	0.0714	N	0.14661	0.345	0.09310	N	1	B;B	0.17667	0.013;0.023	B;B	0.14023	0.006;0.01	T	0.16630	-1.0396	10	0.48119	T	0.1	-19.7847	7.804	0.29191	0.3896:0.4735:0.1368:0.0	.	581;613	Q17RU2;Q04864	.;REL_HUMAN	L	613;581	ENSP00000295025:P613L;ENSP00000377989:P581L	ENSP00000295025:P613L	P	+	2	0	REL	61003152	0.003000	0.15002	0.027000	0.17364	0.602000	0.36980	0.439000	0.21575	1.412000	0.46977	0.650000	0.86243	CCA		0.333	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		7	27	0	0	0	1	0	7	27				
PPP1R26	9858	broad.mit.edu	37	9	138376850	138376850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:138376850C>T	ENST00000356818.2	+	4	1043	c.494C>T	c.(493-495)gCc>gTc	p.A165V	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A165V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A165V	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	165					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCTTCCAGGGCCGCAGGCGGA	0.672																																						ENST00000356818.2																			0											c.(493-495)gCc>gTc		protein phosphatase 1, regulatory subunit 26							16.0	21.0	19.0					9																	138376850		2195	4279	6474	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376850C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.494C>T	9.37:g.138376850C>T	ENSP00000349274:p.Ala165Val					PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A165V|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A165V	p.A165V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1043	+			165					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.494C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	7.725	0.698104	0.15106	.	.	ENSG00000196422	ENST00000356818	T	0.33654	1.4	4.34	3.44	0.39384	.	0.467154	0.17835	N	0.160383	T	0.30792	0.0776	L	0.51422	1.61	0.09310	N	1	P	0.39157	0.662	B	0.38655	0.278	T	0.14144	-1.0483	10	0.46703	T	0.11	-2.3657	6.9793	0.24694	0.1843:0.7204:0.0:0.0954	.	165	Q5T8A7	PPR26_HUMAN	V	165	ENSP00000349274:A165V	ENSP00000349274:A165V	A	+	2	0	KIAA0649	137516671	0.001000	0.12720	0.008000	0.14137	0.005000	0.04900	-0.144000	0.10280	0.813000	0.34350	0.561000	0.74099	GCC		0.672	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		30	7	0	0	0	1	0	30	7				
PCDHB5	26167	broad.mit.edu	37	5	140515221	140515221	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140515221A>G	ENST00000231134.5	+	1	422	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTACAAAGGAAACAA	0.517																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(205-207)Aaa>Gaa									66.0	73.0	71.0					5																	140515221		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515221A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.205A>G	5.37:g.140515221A>G	ENSP00000231134:p.Lys69Glu						p.K69E	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	422	+			69			Cadherin 1.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.205A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	3.937	-0.014974	0.07681	.	.	ENSG00000113209	ENST00000231134	T	0.14144	2.53	5.37	5.37	0.77165	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.09686	0.0238	N	0.17564	0.495	0.23827	N	0.996738	B	0.06786	0.001	B	0.17098	0.017	T	0.23084	-1.0198	9	0.31617	T	0.26	.	10.8273	0.46640	0.9236:0.0:0.0764:0.0	.	69	Q9Y5E4	PCDB5_HUMAN	E	69	ENSP00000231134:K69E	ENSP00000231134:K69E	K	+	1	0	PCDHB5	140495405	0.004000	0.15560	1.000000	0.80357	0.807000	0.45602	1.724000	0.38064	2.166000	0.68216	0.454000	0.30748	AAA		0.517	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		49	70	0	0	0	1	0	49	70				
ARMC4	55130	broad.mit.edu	37	10	28149714	28149714	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149714C>T	ENST00000305242.5	-	19	2953	c.2861G>A	c.(2860-2862)aGg>aAg	p.R954K	ARMC4_ENST00000545014.1_Missense_Mutation_p.R479K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R646K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACTCTATTCCTGCCCCACAT	0.463																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2860-2862)aGg>aAg		armadillo repeat containing 4							175.0	141.0	153.0					10																	28149714		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28149714C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2861G>A	10.37:g.28149714C>T	ENSP00000306410:p.Arg954Lys					ARMC4_ENST00000545014.1_Missense_Mutation_p.R479K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R646K	p.R954K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			19	2953	-			954					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2861G>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302168	0.23736	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93659	-3.26;-3.26;-0.04	5.45	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.374147	0.32190	N	0.006443	D	0.85687	0.5754	N	0.22421	0.69	0.80722	D	1	B;B	0.21147	0.013;0.052	B;B	0.20384	0.029;0.029	T	0.78658	-0.2118	10	0.15066	T	0.55	-25.3525	8.7988	0.34896	0.0:0.7593:0.0:0.2407	.	479;954	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	K	646;954;479	ENSP00000443208:R646K;ENSP00000306410:R954K;ENSP00000441076:R479K	ENSP00000306410:R954K	R	-	2	0	ARMC4	28189720	0.960000	0.32886	0.993000	0.49108	0.995000	0.86356	1.159000	0.31749	1.429000	0.47314	0.655000	0.94253	AGG		0.463	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		25	39	0	0	0	1	0	25	39				
HIVEP2	3097	broad.mit.edu	37	6	143092277	143092277	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:143092277G>A	ENST00000367604.1	-	4	4238	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P1200L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1200L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATTCTGGATTGGAGAAAATGG	0.443																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(3598-3600)cCa>cTa		human immunodeficiency virus type I enhancer binding protein 2							179.0	180.0	180.0					6																	143092277		2005	4164	6169	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143092277G>A	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3599C>T	6.37:g.143092277G>A	ENSP00000356576:p.Pro1200Leu					HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1200L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1200L	p.P1200L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	4341	-			1200					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.3599C>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571057	0.65765	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02812	4.15;4.15;4.15	5.8	5.8	0.92144	.	0.277905	0.42420	D	0.000719	T	0.07143	0.0181	M	0.71581	2.175	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.05209	-1.0899	10	0.87932	D	0	-15.6671	20.0609	0.97674	0.0:0.0:1.0:0.0	.	1200	P31629	ZEP2_HUMAN	L	1200	ENSP00000356576:P1200L;ENSP00000356575:P1200L;ENSP00000012134:P1200L	ENSP00000012134:P1200L	P	-	2	0	HIVEP2	143133970	1.000000	0.71417	0.966000	0.40874	0.799000	0.45148	6.066000	0.71185	2.755000	0.94549	0.655000	0.94253	CCA		0.443	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			78	48	0	0	0	1	0	78	48				
TRAV9-1	28678	broad.mit.edu	37	14	22280041	22280041	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22280041G>A	ENST00000390431.3	+	0	230									T cell receptor alpha variable 9-1																		GACAAGGGAAGGAACAAAGGT	0.458																																						ENST00000390431.3																			0																				92.0	84.0	87.0					14																	22280041		1935	4144	6079			28678							g.chr14:22280041G>A	AE000659		14q11.2	2012-02-07			ENSG00000211783	ENSG00000211783		"""T cell receptors / TRA locus"""	12153	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168987		14.37:g.22280041G>A														0	230	+									RNA	SNP	ENST00000390431.3	37																																																																																						0.458	TRAV9-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401885.1	NG_001332		16	22	0	0	0	1	0	16	22				
THBS1	7057	broad.mit.edu	37	15	39880794	39880794	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:39880794G>A	ENST00000260356.5	+	10	1704	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	513	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GAGGGGTACAGAAACGTAGTC	0.512																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1537-1539)caG>caA		thrombospondin 1	Becaplermin(DB00102)						91.0	88.0	89.0					15																	39880794		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39880794G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1539G>A	15.37:g.39880794G>A							p.Q513Q	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	10	1704	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	513			TSP type-1 3.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1539G>A	CCDS32194.1																																																																																				0.512	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		14	27	0	0	0	1	0	14	27				
APOL3	80833	broad.mit.edu	37	22	36537676	36537676	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36537676C>T	ENST00000349314.2	-	3	818	c.781G>A	c.(781-783)Gac>Aac	p.D261N	APOL3_ENST00000361710.2_Missense_Mutation_p.D61N|APOL3_ENST00000397293.2_Missense_Mutation_p.D190N|APOL3_ENST00000397287.2_Missense_Mutation_p.D61N|APOL3_ENST00000424878.2_Missense_Mutation_p.D61N|APOL3_ENST00000487423.1_5'Flank	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	261					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TTCAATCGGTCAATGCTGGTT	0.473																																						ENST00000424878.2																			0				endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(181-183)Gac>Aac		apolipoprotein L, 3							83.0	75.0	78.0					22																	36537676		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537676C>T	AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.781G>A	22.37:g.36537676C>T	ENSP00000344577:p.Asp261Asn					APOL3_ENST00000397287.2_Missense_Mutation_p.D61N|APOL3_ENST00000349314.2_Missense_Mutation_p.D261N|APOL3_ENST00000397293.2_Missense_Mutation_p.D190N|APOL3_ENST00000361710.2_Missense_Mutation_p.D61N	p.D61N			O95236	APOL3_HUMAN			4	2329	-			261					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.181G>A	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595010	0.46318	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	3.31	-6.11	0.02131	.	1.870320	0.02056	N	0.050430	T	0.03136	0.0092	L	0.43923	1.385	0.09310	N	1	B;B	0.27656	0.108;0.184	B;B	0.26416	0.048;0.069	T	0.39099	-0.9630	10	0.24483	T	0.36	.	1.5315	0.02536	0.1251:0.3087:0.1675:0.3987	.	261;190	O95236;O95236-2	APOL3_HUMAN;.	N	190;61;261;61;61	ENSP00000380461:D190N;ENSP00000415779:D61N;ENSP00000344577:D261N;ENSP00000355164:D61N;ENSP00000380456:D61N	ENSP00000344577:D261N	D	-	1	0	APOL3	34867622	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.842000	0.04354	-1.064000	0.03172	-0.373000	0.07131	GAC		0.473	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		28	46	0	0	0	1	0	28	46				
TYRP1	7306	broad.mit.edu	37	9	12708017	12708017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:12708017G>A	ENST00000388918.5	+	7	1411	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	TYRP1_ENST00000381136.2_Missense_Mutation_p.E138K|TYRP1_ENST00000381137.2_Missense_Mutation_p.E137K|TYRP1_ENST00000473504.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	428					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ATTTCCATTGGAAAATGCCCC	0.358									Oculocutaneous Albinism																													ENST00000388918.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(1282-1284)Gaa>Aaa		tyrosinase-related protein 1							50.0	49.0	49.0					9																	12708017		2203	4299	6502	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12708017G>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1282G>A	9.37:g.12708017G>A	ENSP00000373570:p.Glu428Lys					RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.E138K|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Missense_Mutation_p.E137K	p.E428K	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	7	1411	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	428					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.1282G>A	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	32	5.157281	0.94686	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.83075	-1.68;-1.68;-1.68	5.68	5.68	0.88126	Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.88640	2.97	0.80722	D	1	P	0.45011	0.848	B	0.43950	0.437	D	0.89491	0.3757	10	0.51188	T	0.08	-20.3618	19.7908	0.96456	0.0:0.0:1.0:0.0	.	428	P17643	TYRP1_HUMAN	K	137;428;138	ENSP00000370529:E137K;ENSP00000373570:E428K;ENSP00000370528:E138K	ENSP00000370528:E138K	E	+	1	0	TYRP1	12698017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.600000	0.82769	2.682000	0.91365	0.591000	0.81541	GAA		0.358	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		18	9	0	0	0	1	0	18	9				
RSPO2	340419	broad.mit.edu	37	8	109001353	109001353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109001353C>T	ENST00000276659.5	-	3	834	c.214G>A	c.(214-216)Gga>Aga	p.G72R	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.G5R|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	72					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AGGCACTCTCCATACTGGCGC	0.478																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(214-216)Gga>Aga		R-spondin 2							122.0	100.0	108.0					8																	109001353		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001353C>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.214G>A	8.37:g.109001353C>T	ENSP00000276659:p.Gly72Arg					RSPO2_ENST00000517939.1_Missense_Mutation_p.G5R|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	p.G72R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	834	-			72					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.214G>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167861	0.94768	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026;ENST00000522333	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.90992	0.7167	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91729	0.5395	10	0.87932	D	0	-6.9332	18.9727	0.92721	0.0:1.0:0.0:0.0	.	72	Q6UXX9	RSPO2_HUMAN	R	5;72;5;5;72;44;72	ENSP00000428940:G5R;ENSP00000276659:G72R;ENSP00000428614:G5R;ENSP00000430485:G5R;ENSP00000430010:G72R;ENSP00000429159:G44R;ENSP00000430973:G72R	ENSP00000276659:G72R	G	-	1	0	RSPO2	109070529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.273000	0.78527	2.563000	0.86464	0.557000	0.71058	GGA		0.478	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		31	41	0	0	0	1	0	31	41				
SNORA71B	26776	broad.mit.edu	37	20	37053897	37053897	+	lincRNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:37053897G>A	ENST00000364546.1	-	0	82				SNORA71A_ENST00000364729.1_RNA					small nucleolar RNA, H/ACA box 71B																		CTTCAAACACGGGGAAGCGCT	0.502																																						ENST00000364546.1																			0																				146.0	135.0	138.0					20																	37053897		876	1991	2867			26776							g.chr20:37053897G>A	Y11166		20q11.23	2013-09-05	2006-04-05	2006-04-05	ENSG00000201416	ENSG00000235408		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10233	non-coding RNA	RNA, small nucleolar			"""RNA, U71B small nucleolar"""	RNU71B		9106664	Standard	NR_002910		Approved	U71b	uc002xik.2		OTTHUMG00000032446		20.37:g.37053897G>A														0	82	-									RNA	SNP	ENST00000364546.1	37																																																																																						0.502	SNORA71B-201	KNOWN	basic	snoRNA	lincRNA		NR_002910		31	73	0	0	0	1	0	31	73				
OR1S2	219958	broad.mit.edu	37	11	57971378	57971378	+	Silent	SNP	G	G	A	rs140744069		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57971378G>A	ENST00000302592.6	-	1	275	c.276C>T	c.(274-276)ccC>ccT	p.P92P		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCAGCATTTTGGGGACTGAGT	0.418																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(274-276)ccC>ccT		olfactory receptor, family 1, subfamily S, member 2		G		3,4399	6.2+/-15.9	0,3,2198	182.0	172.0	176.0		276	1.4	1.0	11	dbSNP_134	176	0,8592		0,0,4296	no	coding-synonymous	OR1S2	NM_001004459.1		0,3,6494	AA,AG,GG		0.0,0.0682,0.0231		92/326	57971378	3,12991	2201	4296	6497	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971378G>A	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.276C>T	11.37:g.57971378G>A							p.P92P	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	275	-		Breast(21;0.0589)	92					Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.276C>T	CCDS31545.1																																																																																				0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		37	87	0	0	0	1	0	37	87				
ADAM28	10863	broad.mit.edu	37	8	24181486	24181486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:24181486G>A	ENST00000265769.4	+	9	970	c.860G>A	c.(859-861)aGa>aAa	p.R287K	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.R54K|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.R34K|ADAM28_ENST00000437154.2_Missense_Mutation_p.R287K|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	287	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTCTCAAGAAGAAAGCGTCAT	0.403																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(859-861)aGa>aAa		ADAM metallopeptidase domain 28							116.0	118.0	117.0					8																	24181486		2202	4299	6501	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24181486G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.860G>A	8.37:g.24181486G>A	ENSP00000265769:p.Arg287Lys					ADAM28_ENST00000397649.3_Missense_Mutation_p.R34K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.R54K|ADAM28_ENST00000437154.2_Missense_Mutation_p.R287K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR	p.R287K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	9	970	+		Prostate(55;0.0959)	287			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.860G>A	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559377	0.45590	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.41	3.51	0.40186	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.71896	0.3394	M	0.73962	2.25	0.30032	N	0.813377	B;D;P	0.57257	0.201;0.979;0.55	B;P;B	0.59595	0.17;0.86;0.172	T	0.67726	-0.5596	9	0.56958	D	0.05	.	7.2267	0.26020	0.0922:0.0:0.7362:0.1716	.	54;287;287	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	K	287;34;54;287	ENSP00000265769:R287K;ENSP00000380770:R34K;ENSP00000443743:R54K;ENSP00000393699:R287K	ENSP00000265769:R287K	R	+	2	0	ADAM28	24237431	0.931000	0.31567	0.703000	0.30354	0.029000	0.11900	1.808000	0.38912	2.532000	0.85374	0.650000	0.86243	AGA		0.403	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		25	37	0	0	0	1	0	25	37				
PCDH15	65217	broad.mit.edu	37	10	55849754	55849754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55849754G>A	ENST00000320301.6	-	16	2381	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	PCDH15_ENST00000361849.3_Missense_Mutation_p.L663F|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.L663F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L641F|PCDH15_ENST00000373965.2_Missense_Mutation_p.L670F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L668F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L641F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L626F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L670F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L663F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L274F	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	663	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTCTGAAAGATTAAAAACT	0.348										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(2008-2010)Ctt>Ttt		protocadherin-related 15							59.0	61.0	60.0					10																	55849754		2203	4297	6500	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55849754G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1987C>T	10.37:g.55849754G>A	ENSP00000322604:p.Leu663Phe	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L626F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L668F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L663F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L641F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L663F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L274F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L641F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L663F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L663F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L670F|PCDH15_ENST00000395442.1_Intron	p.L670F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			17	2402	-		Melanoma(3;0.117)|Lung SC(717;0.238)	663			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2008C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508873	0.85282	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81413	0.4817	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.999;0.996;0.999;0.997;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.992;0.992;0.978;0.995;0.998;0.991;0.992;0.992;0.985;0.991;0.94;0.985;0.992	D	0.85330	0.1089	9	0.87932	D	0	.	18.6329	0.91366	0.0:0.0:1.0:0.0	.	641;663;663;668;626;663;663;670;670;663;668;663;641;663	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	F	670;668;663;663;274;670;663;626;663;641;641;663;663;668;663	ENSP00000363076:L670F;ENSP00000410304:L668F;ENSP00000378826:L663F;ENSP00000386693:L274F;ENSP00000378832:L670F;ENSP00000378833:L663F;ENSP00000378820:L626F;ENSP00000354950:L663F;ENSP00000378821:L641F;ENSP00000363068:L641F;ENSP00000322604:L663F;ENSP00000378818:L663F;ENSP00000363066:L663F	ENSP00000322604:L663F	L	-	1	0	PCDH15	55519760	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.447000	0.73465	2.937000	0.99478	0.650000	0.86243	CTT		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		20	35	0	0	0	1	0	20	35				
CNKSR2	22866	broad.mit.edu	37	X	21581440	21581440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21581440G>A	ENST00000379510.3	+	13	1514	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	CNKSR2_ENST00000279451.4_Missense_Mutation_p.G493E|CNKSR2_ENST00000425654.2_Missense_Mutation_p.G463E|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G444E	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	493	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGACACAGGGAAGAAGTCA	0.368																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1387-1389)gGg>gAg		connector enhancer of kinase suppressor of Ras 2							124.0	114.0	117.0					X																	21581440		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21581440G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1478G>A	X.37:g.21581440G>A	ENSP00000368824:p.Gly493Glu					CNKSR2_ENST00000379510.3_Missense_Mutation_p.G493E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G444E|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G493E	p.G463E	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			12	1868	+			493			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1388G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506342	0.85282	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19806	2.29;2.15;2.12;2.43	5.88	5.88	0.94601	Connector enhancer of kinase suppressor of ras 2 (1);	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.43152	1.355	0.58432	D	0.999999	D;P;B;P	0.59767	0.986;0.837;0.379;0.737	P;P;B;B	0.61275	0.886;0.624;0.268;0.422	T	0.01444	-1.1353	10	0.23891	T	0.37	-3.6099	19.1445	0.93459	0.0:0.0:1.0:0.0	.	463;444;85;493	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	E	463;444;493;493	ENSP00000397906:G463E;ENSP00000444633:G444E;ENSP00000279451:G493E;ENSP00000368824:G493E	ENSP00000279451:G493E	G	+	2	0	CNKSR2	21491361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.471000	0.83476	0.600000	0.82982	GGG		0.368	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		34	47	0	0	0	1	0	34	47				
HOMEZ	57594	broad.mit.edu	37	14	23745163	23745163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23745163G>A	ENST00000357460.5	-	2	1438	c.1274C>T	c.(1273-1275)cCt>cTt	p.P425L	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P427L|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P427L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	425	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P425H(1)|p.P401H(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGGGCACCAGGTACTGCGTT	0.537																																						ENST00000357460.5																			2	Substitution - Missense(2)	p.P425H(1)|p.P401H(1)	endometrium(2)	endometrium(5)|lung(7)	12						c.(1273-1275)cCt>cTt		homeobox and leucine zipper encoding							101.0	100.0	100.0					14																	23745163		2068	4193	6261	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745163G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1274C>T	14.37:g.23745163G>A	ENSP00000350049:p.Pro425Leu					HOMEZ_ENST00000561013.1_Missense_Mutation_p.P427L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P427L	p.P425L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1438	-	all_cancers(95;5.54e-06)		425			Pro-rich.		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.1274C>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164973	0.21538	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.24723	1.86;1.84	5.79	4.89	0.63831	Homeodomain-like (1);	1.133710	0.06682	N	0.768182	T	0.22282	0.0537	L	0.29908	0.895	0.41453	D	0.987991	B;B	0.14438	0.01;0.006	B;B	0.15484	0.013;0.006	T	0.02617	-1.1133	10	0.32370	T	0.25	-4.6533	10.2695	0.43475	0.0926:0.0:0.9074:0.0	.	427;425	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	L	425;427	ENSP00000350049:P425L;ENSP00000406579:P427L	ENSP00000350049:P425L	P	-	2	0	HOMEZ	22815003	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.051000	0.41307	1.562000	0.49601	0.655000	0.94253	CCT		0.537	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		7	14	0	0	0	1	0	7	14				
OSBPL10	114884	broad.mit.edu	37	3	31871624	31871624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871624G>A	ENST00000396556.2	-	4	759	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	213					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACAACACCGGGGGCCCCCACA	0.582																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(637-639)Ccc>Tcc		oxysterol binding protein-like 10							59.0	58.0	58.0					3																	31871624		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31871624G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.637C>T	3.37:g.31871624G>A	ENSP00000379804:p.Pro213Ser					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	p.P213S	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	4	759	-			213					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.637C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327606	0.24080	.	.	ENSG00000144645	ENST00000396556	T	0.39229	1.09	5.69	4.82	0.62117	.	0.100863	0.64402	D	0.000001	T	0.31136	0.0787	L	0.37630	1.12	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.08452	-1.0721	10	0.09843	T	0.71	-24.8526	12.5781	0.56375	0.1381:0.0:0.8619:0.0	.	213	Q9BXB5	OSB10_HUMAN	S	213	ENSP00000379804:P213S	ENSP00000379804:P213S	P	-	1	0	OSBPL10	31846628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.923000	0.40055	1.420000	0.47138	0.561000	0.74099	CCC		0.582	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			16	27	0	0	0	1	0	16	27				
CPED1	79974	broad.mit.edu	37	7	120740127	120740127	+	Silent	SNP	G	G	A	rs147197905		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:120740127G>A	ENST00000310396.5	+	7	1364	c.897G>A	c.(895-897)aaG>aaA	p.K299K	CPED1_ENST00000423795.1_Silent_p.K79K|CPED1_ENST00000450913.2_Silent_p.K299K	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	299						endoplasmic reticulum (GO:0005783)		p.K299K(1)									ATCCACCAAAGAAAAAACGCT	0.428																																						ENST00000310396.5																			1	Substitution - coding silent(1)	p.K299K(1)	skin(1)								c.(895-897)aaG>aaA		cadherin-like and PC-esterase domain containing 1							127.0	111.0	116.0					7																	120740127		2203	4300	6503	SO:0001819	synonymous_variant	79974							g.chr7:120740127G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.897G>A	7.37:g.120740127G>A						CPED1_ENST00000423795.1_Silent_p.K79K|CPED1_ENST00000450913.2_Silent_p.K299K	p.K299K	NM_024913.4	NP_079189.4					7	1364	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	ENST00000310396.5	37	c.897G>A	CCDS34739.1																																																																																				0.428	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		24	37	0	0	0	1	0	24	37				
CEP164	22897	broad.mit.edu	37	11	117242148	117242148	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117242148C>T	ENST00000278935.3	+	9	1265	c.1118C>T	c.(1117-1119)tCt>tTt	p.S373F	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	373					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAAGGCTTCTGCTCTGGAA	0.572																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(1117-1119)tCt>tTt		centrosomal protein 164kDa							82.0	76.0	78.0					11																	117242148		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117242148C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1118C>T	11.37:g.117242148C>T	ENSP00000278935:p.Ser373Phe					CEP164_ENST00000533706.1_3'UTR	p.S373F	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1265	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	373					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.1118C>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910561	0.52439	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.60040	0.22	5.26	4.32	0.51571	.	0.755486	0.11504	N	0.557423	T	0.69575	0.3126	M	0.63428	1.95	0.09310	N	1	D;D;D	0.65815	0.99;0.995;0.965	P;P;P	0.58172	0.797;0.834;0.804	T	0.59862	-0.7374	10	0.87932	D	0	-1.2474	12.647	0.56740	0.0:0.8332:0.1668:0.0	.	347;373;373	E9PI34;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	F	373;347;300	ENSP00000278935:S373F	ENSP00000278935:S373F	S	+	2	0	CEP164	116747358	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	1.191000	0.32138	1.164000	0.42652	0.650000	0.86243	TCT		0.572	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		44	54	0	0	0	1	0	44	54				
DNAJC3	5611	broad.mit.edu	37	13	96416176	96416176	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:96416176G>A	ENST00000602402.1	+	9	1161	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E	DNAJC3_ENST00000376795.6_Silent_p.E297E	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	348					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATCGAGCAGAGGCCTATTTGA	0.378																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1042-1044)gaG>gaA		DnaJ (Hsp40) homolog, subfamily C, member 3							150.0	148.0	149.0					13																	96416176		2203	4300	6503	SO:0001819	synonymous_variant	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96416176G>A	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1044G>A	13.37:g.96416176G>A						DNAJC3_ENST00000376795.6_Silent_p.E297E	p.E348E	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		9	1161	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		348					Q86WT9|Q8N4N2	Silent	SNP	ENST00000602402.1	37	c.1044G>A	CCDS9479.1																																																																																				0.378	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			37	66	0	0	0	1	0	37	66				
THEG	51298	broad.mit.edu	37	19	362332	362332	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:362332G>A	ENST00000342640.4	-	8	1050	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	THEG_ENST00000346878.2_Silent_p.I312I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	336					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.I336I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGAGATGATCCGGGGGC	0.617																																						ENST00000342640.4																			1	Substitution - coding silent(1)	p.I336I(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(1006-1008)atC>atT		theg spermatid protein							127.0	124.0	125.0					19																	362332		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362332G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1008C>T	19.37:g.362332G>A						THEG_ENST00000346878.2_Silent_p.I312I	p.I336I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1050	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	336					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.1008C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753086	0.15778	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	T	0.67221	0.2870	.	.	.	0.40006	D	0.975228	.	.	.	.	.	.	T	0.72154	-0.4376	5	0.87932	D	0	-10.5345	11.4591	0.50199	0.0:0.0:1.0:0.0	.	.	.	.	L	114	.	ENSP00000431699:S114L	S	-	2	0	THEG	313332	0.001000	0.12720	0.027000	0.17364	0.352000	0.29268	0.492000	0.22435	2.053000	0.61076	0.603000	0.83216	TCA		0.617	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			70	25	0	0	0	1	0	70	25				
ITGAL	3683	broad.mit.edu	37	16	30532957	30532957	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30532957G>A	ENST00000356798.6	+	31	3664	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N	ITGAL_ENST00000358164.5_Missense_Mutation_p.D1078N|ITGAL_ENST00000433423.2_Missense_Mutation_p.D396N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1162					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCATGAGAAGGACTCTGAGAG	0.617																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3484-3486)Gac>Aac		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						58.0	60.0	59.0					16																	30532957		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30532957G>A		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3484G>A	16.37:g.30532957G>A	ENSP00000349252:p.Asp1162Asn					ITGAL_ENST00000433423.2_Missense_Mutation_p.D396N|ITGAL_ENST00000358164.5_Missense_Mutation_p.D1078N	p.D1162N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			31	3664	+			1162					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.3484G>A	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808357	0.31961	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.58358	0.34;0.69;1.86	5.09	3.14	0.36123	.	1.224290	0.05683	N	0.590733	T	0.36193	0.0958	N	0.14661	0.345	0.09310	N	0.999996	B;B;B	0.23377	0.084;0.009;0.005	B;B;B	0.15052	0.012;0.01;0.007	T	0.24835	-1.0149	10	0.37606	T	0.19	.	7.6952	0.28590	0.194:0.0:0.806:0.0	.	396;1078;1162	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	N	1162;1078;396	ENSP00000349252:D1162N;ENSP00000350886:D1078N;ENSP00000409377:D396N	ENSP00000349252:D1162N	D	+	1	0	ITGAL	30440458	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	0.495000	0.22483	0.661000	0.30985	0.555000	0.69702	GAC		0.617	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			22	30	0	0	0	1	0	22	30				
ZBED9	114821	broad.mit.edu	37	6	28543894	28543894	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28543894G>A	ENST00000452236.2	-	3	1205	c.588C>T	c.(586-588)tcC>tcT	p.S196S	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAGACATCATGGAAAACCACA	0.338																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(586-588)tcC>tcT		SCAN domain containing 3							41.0	43.0	43.0					6																	28543894		2125	4263	6388	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543894G>A																												ENST00000452236.2:c.588C>T	6.37:g.28543894G>A						SCAND3_ENST00000530247.1_5'UTR	p.S196S	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1205	-			196						Silent	SNP	ENST00000452236.2	37	c.588C>T	CCDS34355.1																																																																																				0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			16	14	0	0	0	1	0	16	14				
DIRAS2	54769	broad.mit.edu	37	9	93375924	93375924	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:93375924C>T	ENST00000375765.3	-	2	574	c.186G>A	c.(184-186)acG>acA	p.T62T		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	62					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GGCTCCCCGTCGTGTCGGTGA	0.582																																						ENST00000375765.3																			0				kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						c.(184-186)acG>acA		DIRAS family, GTP-binding RAS-like 2							154.0	127.0	136.0					9																	93375924		2203	4300	6503	SO:0001819	synonymous_variant	54769				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr9:93375924C>T	AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.186G>A	9.37:g.93375924C>T							p.T62T	NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN			2	574	-			62					B3KVM2	Silent	SNP	ENST00000375765.3	37	c.186G>A	CCDS6687.1																																																																																				0.582	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053012.1			75	27	0	0	0	1	0	75	27				
ZNF804A	91752	broad.mit.edu	37	2	185800779	185800779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:185800779C>T	ENST00000302277.6	+	4	1250	c.656C>T	c.(655-657)cCa>cTa	p.P219L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	219							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTGCATTTCCAAAGAAAGCG	0.418																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(655-657)cCa>cTa		zinc finger protein 804A							65.0	67.0	66.0					2																	185800779		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800779C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.656C>T	2.37:g.185800779C>T	ENSP00000303252:p.Pro219Leu						p.P219L	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1250	+			219					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.656C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562078	0.86335	.	.	ENSG00000170396	ENST00000302277	T	0.08720	3.06	5.32	5.32	0.75619	.	0.000000	0.51477	D	0.000083	T	0.27241	0.0668	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.00458	-1.1727	10	0.87932	D	0	-13.0725	17.9814	0.89143	0.0:1.0:0.0:0.0	.	219	Q7Z570	Z804A_HUMAN	L	219	ENSP00000303252:P219L	ENSP00000303252:P219L	P	+	2	0	ZNF804A	185509024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.202000	0.77856	2.490000	0.84030	0.467000	0.42956	CCA		0.418	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		36	47	0	0	0	1	0	36	47				
KIAA0100	9703	broad.mit.edu	37	17	26939672	26939672	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:26939672C>T	ENST00000528896.2	-	0	7407				RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.G171R|RP11-192H23.4_ENST00000534850.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGCTGTCCCCCAAGCTGTGT	0.488																																						ENST00000301037.5																			0											c.(511-513)Ggg>Agg									128.0	102.0	111.0					17																	26939672		2203	4300	6503	SO:0001628	intergenic_variant	124923							g.chr17:26939672C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939672C>T						RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR	p.G171R	NM_001174103.1	NP_001167574.1					5	510	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.511G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202893	0.38905	.	.	ENSG00000167524	ENST00000301037;ENST00000530121	T;T	0.07216	3.21;3.21	5.97	4.01	0.46588	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.196128	0.44902	D	0.000414	T	0.05273	0.0140	N	0.16233	0.39	0.37812	D	0.928099	B	0.02656	0.0	B	0.10450	0.005	T	0.38824	-0.9643	10	0.23302	T	0.38	-11.3741	9.0967	0.36642	0.1457:0.7802:0.0:0.0741	.	171	Q96LW2	SG494_HUMAN	R	171;167	ENSP00000301037:G171R;ENSP00000434603:G167R	ENSP00000301037:G171R	G	-	1	0	AC005726.6	23963799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.632000	0.37102	0.887000	0.36136	-0.741000	0.03529	GGG		0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	29	0	0	0	1	0	8	29				
MED30	90390	broad.mit.edu	37	8	118533124	118533124	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:118533124C>T	ENST00000297347.3	+	1	173	c.9C>T	c.(7-9)acC>acT	p.T3T	MED30_ENST00000522839.1_Silent_p.T3T	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	3					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CCATGTCCACCCCTCCGTTGG	0.721																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(7-9)acC>acT		mediator complex subunit 30							6.0	7.0	7.0					8																	118533124		2053	4068	6121	SO:0001819	synonymous_variant	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118533124C>T	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.9C>T	8.37:g.118533124C>T						MED30_ENST00000522839.1_Silent_p.T3T	p.T3T	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		1	173	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		3					C6GKU9	Silent	SNP	ENST00000297347.3	37	c.9C>T	CCDS6323.1																																																																																				0.721	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		9	9	0	0	0	1	0	9	9				
ZNF784	147808	broad.mit.edu	37	19	56133381	56133381	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56133381G>A	ENST00000325351.4	-	2	747	c.708C>T	c.(706-708)tcC>tcT	p.S236S	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	236					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAAGCACCGAGGACTGGGTGA	0.662																																						ENST00000325351.4																			0				upper_aerodigestive_tract(1)	1						c.(706-708)tcC>tcT		zinc finger protein 784							36.0	27.0	30.0					19																	56133381		2199	4295	6494	SO:0001819	synonymous_variant	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133381G>A	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.708C>T	19.37:g.56133381G>A						ZNF784_ENST00000591479.1_3'UTR	p.S236S	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	747	-			236						Silent	SNP	ENST00000325351.4	37	c.708C>T	CCDS12930.1																																																																																				0.662	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2	NM_203374		4	6	0	0	0	1	0	4	6				
CCDC176	80127	broad.mit.edu	37	14	74516717	74516717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74516717C>T	ENST00000394009.3	+	8	1228	c.1105C>T	c.(1105-1107)Caa>Taa	p.Q369*	CCDC176_ENST00000553773.1_Nonsense_Mutation_p.Q94*|AC005484.5_ENST00000492026.1_RNA	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	369					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											TGCTCTGCACCAAGTGAAGCA	0.408																																						ENST00000394009.3																			0											c.(1105-1107)Caa>Taa		coiled-coil domain containing 176							96.0	93.0	94.0					14																	74516717		2203	4300	6503	SO:0001587	stop_gained	80127							g.chr14:74516717C>T	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1105C>T	14.37:g.74516717C>T	ENSP00000377577:p.Gln369*					AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Nonsense_Mutation_p.Q94*	p.Q369*	NM_025057.2	NP_079333.2					8	1228	+								Q0P604|Q9H5P8	Nonsense_Mutation	SNP	ENST00000394009.3	37	c.1105C>T	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	C	40	8.132812	0.98670	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	.	.	.	5.66	1.32	0.21799	.	0.380648	0.33309	N	0.005041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.3424	17.4483	0.87585	0.0:0.5129:0.4871:0.0	.	.	.	.	X	369;94	.	ENSP00000377577:Q369X	Q	+	1	0	C14orf45	73586470	0.860000	0.29831	0.995000	0.50966	0.962000	0.63368	1.638000	0.37165	0.259000	0.21709	0.549000	0.68633	CAA		0.408	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		24	32	0	0	0	1	0	24	32				
LGR6	59352	broad.mit.edu	37	1	202270008	202270008	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:202270008C>T	ENST00000367278.3	+	8	906	c.817C>T	c.(817-819)Cca>Tca	p.P273S	LGR6_ENST00000255432.7_Missense_Mutation_p.P221S|LGR6_ENST00000439764.2_Missense_Mutation_p.P134S|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	273					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAAGGCCATCCCAGAAAAGGC	0.498																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(817-819)Cca>Tca		leucine-rich repeat containing G protein-coupled receptor 6							142.0	130.0	134.0					1																	202270008		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202270008C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.817C>T	1.37:g.202270008C>T	ENSP00000356247:p.Pro273Ser					LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.P221S|LGR6_ENST00000439764.2_Missense_Mutation_p.P134S	p.P273S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			8	906	+			273					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.817C>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503611	0.85176	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.32023	3.28;3.28;1.47	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.70595	2.14	0.48185	D	0.999606	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.53528	-0.8426	10	0.54805	T	0.06	.	15.9281	0.79635	0.0:1.0:0.0:0.0	.	134;221;273	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	S	273;221;134	ENSP00000356247:P273S;ENSP00000255432:P221S;ENSP00000387869:P134S	ENSP00000255432:P221S	P	+	1	0	LGR6	200536631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.938000	0.70170	2.837000	0.97791	0.655000	0.94253	CCA		0.498	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		44	62	0	0	0	1	0	44	62				
CNGA2	1260	broad.mit.edu	37	X	150908082	150908082	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150908082C>T	ENST00000329903.4	+	3	285	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	84					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGAATTTCCGAGAGGAGG	0.532																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(250-252)ttC>ttT		cyclic nucleotide gated channel alpha 2							115.0	90.0	98.0					X																	150908082		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150908082C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.252C>T	X.37:g.150908082C>T							p.F84F	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			3	285	+	Acute lymphoblastic leukemia(192;6.56e-05)		84					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.252C>T	CCDS14701.1																																																																																				0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		26	38	0	0	0	1	0	26	38				
FARP1	10160	broad.mit.edu	37	13	98865605	98865605	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:98865605G>A	ENST00000319562.6	+	2	374	c.109G>A	c.(109-111)Gga>Aga	p.G37R	FARP1_ENST00000376586.2_Missense_Mutation_p.G37R|FARP1_ENST00000376581.5_Missense_Mutation_p.G37R|FARP1_ENST00000595437.1_Missense_Mutation_p.G37R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	37					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)			AACACCTTCAGGAAAACTCGT	0.542																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(109-111)Gga>Aga		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							143.0	156.0	151.0					13																	98865605		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.chr13:98865605G>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.109G>A	13.37:g.98865605G>A	ENSP00000322926:p.Gly37Arg					FARP1_ENST00000319562.6_Missense_Mutation_p.G37R|FARP1_ENST00000376581.5_Missense_Mutation_p.G37R|FARP1_ENST00000595437.1_Missense_Mutation_p.G37R	p.G37R			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		2	445	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		37					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.109G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900588	0.92035	.	.	ENSG00000152767	ENST00000376581;ENST00000376586;ENST00000319562	T;T;T	0.79352	0.16;-1.26;-1.08	5.75	5.75	0.90469	Band 4.1 domain (1);	0.000000	0.64402	D	0.000001	D	0.85720	0.5762	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.81145	-0.1066	10	0.22706	T	0.39	.	19.9402	0.97155	0.0:0.0:1.0:0.0	.	37;37;37	Q9Y4F1;Q5JVI9;C9JME2	FARP1_HUMAN;.;.	R	37	ENSP00000365765:G37R;ENSP00000365771:G37R;ENSP00000322926:G37R	ENSP00000322926:G37R	G	+	1	0	FARP1	97663606	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.014000	0.93635	2.725000	0.93324	0.655000	0.94253	GGA		0.542	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		72	124	0	0	0	1	0	72	124				
TANC1	85461	broad.mit.edu	37	2	160086254	160086254	+	Silent	SNP	C	C	T	rs201595327		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:160086254C>T	ENST00000263635.6	+	27	4554	c.4317C>T	c.(4315-4317)tcC>tcT	p.S1439S	TANC1_ENST00000454300.1_Silent_p.S1333S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1439					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						TCAACGACTCCGAGAACGAAG	0.537																																						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.(4315-4317)tcC>tcT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							83.0	96.0	92.0					2																	160086254		2029	4179	6208	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086254C>T	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.4317C>T	2.37:g.160086254C>T						TANC1_ENST00000454300.1_Silent_p.S1333S	p.S1439S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	4554	+			1439					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.4317C>T	CCDS42766.1																																																																																				0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			42	67	0	0	0	1	0	42	67				
ABHD16A	7920	broad.mit.edu	37	6	31657450	31657450	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31657450G>A	ENST00000395952.3	-	12	1151	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ABHD16A_ENST00000440843.2_Missense_Mutation_p.A297V|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_Missense_Mutation_p.A111V|ABHD16A_ENST00000471644.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	330						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CACATCCATGGCATTAGCCTC	0.592																																						ENST00000375842.4																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(331-333)gCc>gTc		abhydrolase domain containing 16A							93.0	60.0	72.0					6																	31657450		1511	2708	4219	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31657450G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.989C>T	6.37:g.31657450G>A	ENSP00000379282:p.Ala330Val					ABHD16A_ENST00000395952.3_Missense_Mutation_p.A330V|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.A297V	p.A111V			O95870	ABHGA_HUMAN			12	1318	-			330					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.332C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295796	0.95574	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	T;T;T	0.23754	1.89;1.89;1.89	5.11	5.11	0.69529	.	0.109676	0.64402	D	0.000010	T	0.41396	0.1157	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.72982	0.979;0.732	T	0.09751	-1.0660	10	0.31617	T	0.26	-19.3456	16.0667	0.80887	0.0:0.0:1.0:0.0	.	297;330	B7Z4R6;O95870	.;ABHGA_HUMAN	V	330;111;297	ENSP00000379282:A330V;ENSP00000365002:A111V;ENSP00000410347:A297V	ENSP00000365002:A111V	A	-	2	0	ABHD16A	31765429	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.486000	0.90451	2.654000	0.90174	0.561000	0.74099	GCC		0.592	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			10	12	0	0	0	1	0	10	12				
SLCO6A1	133482	broad.mit.edu	37	5	101748743	101748743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:101748743G>T	ENST00000506729.1	-	9	1748	c.1577C>A	c.(1576-1578)tCt>tAt	p.S526Y	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S464Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S273Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S526Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S273Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	526	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAAGCAGGGAGAAAAATATTC	0.299																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1576-1578)tCt>tAt		solute carrier organic anion transporter family, member 6A1							29.0	30.0	30.0					5																	101748743		2199	4296	6495	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748743G>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1577C>A	5.37:g.101748743G>T	ENSP00000421339:p.Ser526Tyr					SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S273Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S464Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S526Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S273Y	p.S526Y			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1748	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	526			Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1577C>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749002	0.49257	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.000000	0.64402	D	0.000006	T	0.46908	0.1417	H	0.98664	4.295	0.48975	D	0.999736	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.966;0.999;0.994	T	0.66984	-0.5785	10	0.87932	D	0	.	15.8626	0.79038	0.0:0.0:1.0:0.0	.	464;273;526	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	526;526;464;273;273	ENSP00000421339:S526Y;ENSP00000369135:S526Y;ENSP00000373671:S464Y;ENSP00000421990:S273Y;ENSP00000369138:S273Y	ENSP00000369135:S526Y	S	-	2	0	SLCO6A1	101776642	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	5.768000	0.68858	2.720000	0.93068	0.655000	0.94253	TCT		0.299	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		13	21	1	0	4.36969e-10	1	4.41062e-10	13	21				
NBPF1	55672	broad.mit.edu	37	1	16895701	16895701	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16895701G>A	ENST00000430580.2	-	23	3368	c.2481C>T	c.(2479-2481)gtC>gtT	p.V827V	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	827	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACTCCTGGGGGACTTCCTCCT	0.483																																						ENST00000430580.2																			0											c.(2479-2481)gtC>gtT		neuroblastoma breakpoint family, member 1							40.0	38.0	39.0					1																	16895701		1510	3218	4728	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16895701G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2481C>T	1.37:g.16895701G>A						NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.V827V	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3368	-			827			NBPF 4.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2481C>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		24	298	0	0	0	1	0	24	298				
KCNH4	23415	broad.mit.edu	37	17	40315719	40315719	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40315719G>A	ENST00000264661.3	-	13	2714	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	KCNH4_ENST00000607371.1_Silent_p.S794S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	794					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCGTGAGGGGAGGCACTGT	0.657																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2380-2382)tcC>tcT		potassium voltage-gated channel, subfamily H (eag-related), member 4							13.0	15.0	15.0					17																	40315719		2178	4225	6403	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315719G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2382C>T	17.37:g.40315719G>A						KCNH4_ENST00000607371.1_Silent_p.S794S	p.S794S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	13	2714	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	794						Silent	SNP	ENST00000264661.3	37	c.2382C>T	CCDS11420.1																																																																																				0.657	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		8	17	0	0	0	1	0	8	17				
ALG13	79868	broad.mit.edu	37	X	110966071	110966071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110966071G>A	ENST00000394780.3	+	13	1498	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	ALG13_ENST00000251943.4_Missense_Mutation_p.G392R	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	496	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GTACTATTTGGGAGACAAGTG	0.328																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(1486-1488)Gga>Aga		ALG13, UDP-N-acetylglucosaminyltransferase subunit							110.0	96.0	101.0					X																	110966071		1567	3582	5149	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110966071G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1486G>A	X.37:g.110966071G>A	ENSP00000378260:p.Gly496Arg					ALG13_ENST00000251943.4_Missense_Mutation_p.G392R	p.G496R	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			13	1498	+			496			Tudor.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.1486G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480961	0.84747	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;D	0.96041	-0.15;-1.23;-3.89	5.83	5.83	0.93111	Tudor subgroup (1);	0.000000	0.56097	U	0.000030	D	0.98024	0.9349	M	0.86502	2.82	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98829	1.0750	10	0.87932	D	0	-8.5062	17.9648	0.89097	0.0:0.0:1.0:0.0	.	418;496;392	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	R	392;496;392	ENSP00000251943:G392R;ENSP00000378260:G496R;ENSP00000427093:G392R	ENSP00000251943:G392R	G	+	1	0	ALG13	110852727	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.467000	0.90390	2.463000	0.83235	0.600000	0.82982	GGA		0.328	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		7	15	0	0	0	1	0	7	15				
RGS11	8786	broad.mit.edu	37	16	320993	320993	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320993C>T	ENST00000397770.3	-	13	986	c.969G>A	c.(967-969)aaG>aaA	p.K323K	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.K302K|RGS11_ENST00000359740.5_Silent_p.K312K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	323	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACTGAACTCCTTTCCCAGAA	0.672																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(967-969)aaG>aaA		regulator of G-protein signaling 11							13.0	18.0	17.0					16																	320993		2146	4220	6366	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:320993C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.969G>A	16.37:g.320993C>T						RGS11_ENST00000359740.5_Silent_p.K312K|RGS11_ENST00000316163.5_Silent_p.K302K|ARHGDIG_ENST00000464609.1_Intron	p.K323K			O94810	RGS11_HUMAN			13	986	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	323			RGS.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.969G>A	CCDS42088.1																																																																																				0.672	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			12	13	0	0	0	1	0	12	13				
ZNF592	9640	broad.mit.edu	37	15	85345185	85345185	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85345185C>T	ENST00000560079.2	+	11	3653	c.3365C>T	c.(3364-3366)tCc>tTc	p.S1122F	ZNF592_ENST00000299927.3_Missense_Mutation_p.S1122F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1122					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGGCACAAGTCCCTTTTTCAG	0.537																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(3364-3366)tCc>tTc		zinc finger protein 592							65.0	63.0	64.0					15																	85345185		2203	4296	6499	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85345185C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3365C>T	15.37:g.85345185C>T	ENSP00000452877:p.Ser1122Phe					ZNF592_ENST00000560079.2_Missense_Mutation_p.S1122F	p.S1122F			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	3387	+			1122					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.3365C>T	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945208	0.73672	.	.	ENSG00000166716	ENST00000299927	T	0.00619	6.18	5.62	5.62	0.85841	.	0.345231	0.32703	N	0.005757	T	0.01061	0.0035	L	0.36672	1.1	0.43238	D	0.995146	P	0.48016	0.904	B	0.44224	0.444	T	0.77120	-0.2705	10	0.62326	D	0.03	-11.9713	17.1568	0.86793	0.0:1.0:0.0:0.0	.	1122	Q92610	ZN592_HUMAN	F	1122	ENSP00000299927:S1122F	ENSP00000299927:S1122F	S	+	2	0	ZNF592	83146189	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	5.711000	0.68400	2.648000	0.89879	0.655000	0.94253	TCC		0.537	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		31	46	0	0	0	1	0	31	46				
STK19	8859	broad.mit.edu	37	6	31940120	31940120	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31940120G>A	ENST00000375333.2	+	2	315	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	DXO_ENST00000478221.1_5'Flank|DXO_ENST00000337523.5_5'Flank|DXO_ENST00000375349.3_5'Flank|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.E88K	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	88					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						CTCTGCGCCGGAAGACCCTAT	0.582																																						ENST00000375331.2																			1	Substitution - Missense(1)	p.E88K(1)	skin(1)	skin(5)|upper_aerodigestive_tract(2)	7						c.(262-264)Gaa>Aaa		serine/threonine kinase 19							114.0	108.0	110.0					6																	31940120		1511	2709	4220	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31940120G>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.262G>A	6.37:g.31940120G>A	ENSP00000364482:p.Glu88Lys					STK19_ENST00000375333.2_Missense_Mutation_p.E88K	p.E88K	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			2	428	+			88					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.262G>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	37	6.478291	0.97598	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.54279	0.58;1.59;1.59	4.67	4.67	0.58626	.	0.000000	0.35378	N	0.003250	T	0.44329	0.1288	L	0.27053	0.805	0.28383	N	0.919452	P;D;P;P;P	0.63046	0.455;0.992;0.827;0.734;0.455	B;P;P;B;B	0.60541	0.111;0.876;0.526;0.326;0.111	T	0.38001	-0.9681	10	0.62326	D	0.03	-9.3937	13.241	0.59997	0.0:0.0:1.0:0.0	.	45;88;88;88;45	C9IZ87;B4E0M4;P49842-2;P49842;B7ZLI8	.;.;.;STK19_HUMAN;.	K	88	ENSP00000418350:E88K;ENSP00000364480:E88K;ENSP00000364482:E88K	ENSP00000364480:E88K	E	+	1	0	STK19	32048099	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.398000	0.59697	2.578000	0.87016	0.655000	0.94253	GAA		0.582	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			40	26	0	0	0	1	0	40	26				
ZNF366	167465	broad.mit.edu	37	5	71757217	71757217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71757217C>T	ENST00000318442.5	-	2	597	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	36					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGAGCCTTTCCCCGAGAAGC	0.567																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(106-108)gGa>gAa		zinc finger protein 366							39.0	41.0	40.0					5																	71757217		2199	4298	6497	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71757217C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.107G>A	5.37:g.71757217C>T	ENSP00000313158:p.Gly36Glu						p.G36E	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	597	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	36					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.107G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	0.789	-0.759424	0.03019	.	.	ENSG00000178175	ENST00000318442;ENST00000414109	T;T	0.34472	1.36;1.36	5.7	1.54	0.23209	.	0.573360	0.17581	N	0.169112	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25467	-1.0131	10	0.02654	T	1	-16.2687	0.6262	0.00786	0.2389:0.3657:0.1302:0.2652	.	36	Q8N895	ZN366_HUMAN	E	36	ENSP00000313158:G36E;ENSP00000391333:G36E	ENSP00000313158:G36E	G	-	2	0	ZNF366	71792973	0.000000	0.05858	0.020000	0.16555	0.114000	0.19823	-0.174000	0.09839	0.355000	0.24131	0.561000	0.74099	GGA		0.567	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			23	39	0	0	0	1	0	23	39				
AMER1	139285	broad.mit.edu	37	X	63412636	63412636	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63412636G>A	ENST00000330258.3	-	2	803	c.531C>T	c.(529-531)cgC>cgT	p.R177R	AMER1_ENST00000374869.3_Silent_p.R177R|AMER1_ENST00000403336.1_Silent_p.R177R	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	177					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TCCGGTGACGGCGGATACTGC	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(529-531)cgC>cgT		APC membrane recruitment protein 1							55.0	51.0	53.0					X																	63412636		2202	4299	6501	SO:0001819	synonymous_variant	139285							g.chrX:63412636G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.531C>T	X.37:g.63412636G>A						AMER1_ENST00000374869.3_Silent_p.R177R|AMER1_ENST00000403336.1_Silent_p.R177R	p.R177R	NM_152424.3	NP_689637.3					2	803	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.531C>T	CCDS14377.2																																																																																				0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		50	64	0	0	0	1	0	50	64				
ST6GAL1	6480	broad.mit.edu	37	3	186760702	186760702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:186760702C>T	ENST00000169298.3	+	4	885	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P71S|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	71					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CACCCAGGACCCCCACAGGGG	0.547																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(211-213)Ccc>Tcc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							45.0	52.0	49.0					3																	186760702		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186760702C>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.211C>T	3.37:g.186760702C>T	ENSP00000169298:p.Pro71Ser					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P71S|ST6GAL1_ENST00000457772.2_Intron	p.P71S	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	885	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		71					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.211C>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243625	0.39697	.	.	ENSG00000073849	ENST00000169298;ENST00000417392;ENST00000438590;ENST00000448408;ENST00000448044;ENST00000416235;ENST00000423451;ENST00000446170	T;T	0.21543	2.0;2.0	5.36	5.36	0.76844	.	0.113864	0.64402	D	0.000011	T	0.24547	0.0595	L	0.60455	1.87	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.02031	-1.1226	10	0.54805	T	0.06	-22.6398	14.9723	0.71243	0.0:1.0:0.0:0.0	.	71	P15907	SIAT1_HUMAN	S	71	ENSP00000169298:P71S;ENSP00000389337:P71S	ENSP00000169298:P71S	P	+	1	0	ST6GAL1	188243396	0.005000	0.15991	0.362000	0.25862	0.887000	0.51463	0.826000	0.27407	2.682000	0.91365	0.561000	0.74099	CCC		0.547	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		23	70	0	0	0	1	0	23	70				
NOTCH1	4851	broad.mit.edu	37	9	139411742	139411742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:139411742G>A	ENST00000277541.6	-	9	1612	c.1537C>T	c.(1537-1539)Cag>Tag	p.Q513*	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	513	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCACTGGAACTCATTG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1537-1539)Cag>Tag		notch 1							32.0	38.0	36.0					9																	139411742		2069	4201	6270	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139411742G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1537C>T	9.37:g.139411742G>A	ENSP00000277541:p.Gln513*	HNSCC(8;0.001)					p.Q513*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	9	1612	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	513			EGF-like 13; calcium-binding (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.1537C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	39	7.478787	0.98309	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.32	2.41	0.29592	.	0.495844	0.22998	N	0.053110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	13.1461	0.59463	0.0:0.3242:0.6758:0.0	.	.	.	.	X	513	.	ENSP00000277541:Q513X	Q	-	1	0	NOTCH1	138531563	1.000000	0.71417	0.742000	0.31022	0.992000	0.81027	2.321000	0.43805	0.257000	0.21650	0.563000	0.77884	CAG		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		12	2	0	0	0	1	0	12	2				
MIR143HG	728264	broad.mit.edu	37	5	148810268	148810268	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148810268C>T	ENST00000602964.1	+	0	16796				MIR145_ENST00000384967.1_lincRNA|MIR143_ENST00000385300.1_RNA					MIR143 host gene (non-protein coding)																		ATGGGGATTCCTGGAAATACT	0.572											OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000384967.1																			0																				51.0	52.0	52.0					5																	148810268		1568	3582	5150			406937							g.chr5:148810268C>T			5q32	2013-02-13			ENSG00000249669	ENSG00000249669		"""Long non-coding RNAs"""	42872	non-coding RNA	RNA, long non-coding							Standard	NR_105059		Approved				OTTHUMG00000163464		5.37:g.148810268C>T			OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1720			NR_029686.1						0	60	+									RNA	SNP	ENST00000602964.1	37																																																																																						0.572	MIR143HG-009	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468028.1			13	12	0	0	0	1	0	13	12				
CXorf57	55086	broad.mit.edu	37	X	105879862	105879862	+	Missense_Mutation	SNP	G	G	A	rs373154363		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105879862G>A	ENST00000372548.4	+	7	1502	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	CXorf57_ENST00000372544.2_Missense_Mutation_p.G465R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	465							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGAGAGTGGAGTGTTTAT	0.313																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1393-1395)Gga>Aga		chromosome X open reading frame 57							124.0	108.0	113.0					X																	105879862		2203	4299	6502	SO:0001583	missense	55086							g.chrX:105879862G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1393G>A	X.37:g.105879862G>A	ENSP00000361628:p.Gly465Arg					CXorf57_ENST00000372544.2_Missense_Mutation_p.G465R	p.G465R	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			7	1502	+			465					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1393G>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.319384	0.00232	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.40225	1.04;1.04;1.04	4.46	1.44	0.22558	.	0.508887	0.20885	N	0.083929	T	0.10766	0.0263	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.33777	-0.9855	10	0.12430	T	0.62	-0.0848	7.1094	0.25382	0.3391:0.4953:0.1655:0.0	.	465;465;465	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	R	465;465;273	ENSP00000361623:G465R;ENSP00000361628:G465R;ENSP00000405866:G273R	ENSP00000361623:G465R	G	+	1	0	CXorf57	105766518	0.465000	0.25815	0.011000	0.14972	0.422000	0.31414	0.814000	0.27239	0.028000	0.15324	-0.563000	0.04171	GGA		0.313	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		36	49	0	0	0	1	0	36	49				
CACYBP	27101	broad.mit.edu	37	1	174973897	174973897	+	Missense_Mutation	SNP	C	C	T	rs11548912		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:174973897C>T	ENST00000367679.2	+	2	611	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	CACYBP_ENST00000405362.1_Missense_Mutation_p.L12F|CACYBP_ENST00000367681.2_Missense_Mutation_p.L12F|CACYBP_ENST00000406752.1_Missense_Mutation_p.L55F	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	55	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCAGAACTTCTTGATAATGA	0.403																																						ENST00000367681.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(34-36)Ctt>Ttt		calcyclin binding protein							99.0	93.0	95.0					1																	174973897		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174973897C>T	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.163C>T	1.37:g.174973897C>T	ENSP00000356652:p.Leu55Phe					CACYBP_ENST00000367679.2_Missense_Mutation_p.L55F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L12F|CACYBP_ENST00000406752.1_Missense_Mutation_p.L55F	p.L12F	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			2	674	+			55			Interaction with SIAH1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.34C>T	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	C	9.368	1.069671	0.20147	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000406752;ENST00000405362	.	.	.	4.87	-1.56	0.08532	Siah interacting protein, N-terminal (1);	1.750890	0.02705	N	0.112176	T	0.27629	0.0679	N	0.19112	0.55	0.09310	N	1	B;B	0.21381	0.031;0.055	B;B	0.26202	0.039;0.067	T	0.17623	-1.0363	9	0.10636	T	0.68	-0.2037	8.4617	0.32931	0.3491:0.2085:0.4424:0.0	rs11548912;rs11548912	55;55	B4DFD3;Q9HB71	.;CYBP_HUMAN	F	12;28;55;55;12	.	ENSP00000356652:L55F	L	+	1	0	CACYBP	173240520	0.000000	0.05858	0.001000	0.08648	0.591000	0.36615	-0.691000	0.05133	0.067000	0.16545	0.655000	0.94253	CTT		0.403	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		27	32	0	0	0	1	0	27	32				
HECTD4	283450	broad.mit.edu	37	12	112646363	112646363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:112646363C>T	ENST00000430131.2	-	50	7818	c.6673G>A	c.(6673-6675)Gac>Aac	p.D2225N	HECTD4_ENST00000550722.1_Missense_Mutation_p.D2501N|HECTD4_ENST00000377560.5_Missense_Mutation_p.D2475N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2225					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGTGAGGGTCTGGGCCAGAG	0.483																																						ENST00000550722.1																			0											c.(7501-7503)Gac>Aac		HECT domain containing E3 ubiquitin protein ligase 4							117.0	117.0	117.0					12																	112646363		2010	4189	6199	SO:0001583	missense	283450							g.chr12:112646363C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6673G>A	12.37:g.112646363C>T	ENSP00000404379:p.Asp2225Asn					HECTD4_ENST00000377560.5_Missense_Mutation_p.D2475N|HECTD4_ENST00000430131.2_Missense_Mutation_p.D2225N	p.D2501N	NM_001109662.3	NP_001103132.3					51	7896	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.7501G>A		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567718	0.65651	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.46063	0.88;0.88;0.88	5.95	5.95	0.96441	.	.	.	.	.	T	0.34919	0.0914	N	0.19112	0.55	0.48185	D	0.999604	B	0.10296	0.003	B	0.08055	0.003	T	0.10451	-1.0629	9	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	2225	Q9Y4D8	K0614_HUMAN	N	2475;2225;2501	ENSP00000366783:D2475N;ENSP00000404379:D2225N;ENSP00000449784:D2501N	ENSP00000366783:D2475N	D	-	1	0	C12orf51	111130746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.548000	0.53670	2.824000	0.97209	0.655000	0.94253	GAC		0.483	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		25	98	0	0	0	1	0	25	98				
HIRA	7290	broad.mit.edu	37	22	19363264	19363264	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:19363264G>A	ENST00000263208.5	-	15	1921	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	HIRA_ENST00000546308.1_Silent_p.T511T|HIRA_ENST00000340170.4_Silent_p.T555T|HIRA_ENST00000541063.1_Silent_p.T511T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	555	Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TCTTGGACGGGGTCGTTAACA	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1663-1665)acC>acT		histone cell cycle regulator							159.0	123.0	136.0					22																	19363264		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19363264G>A	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1665C>T	22.37:g.19363264G>A						HIRA_ENST00000546308.1_Silent_p.T511T|HIRA_ENST00000340170.4_Silent_p.T555T|HIRA_ENST00000541063.1_Silent_p.T511T	p.T555T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			15	1921	-	Colorectal(54;0.0993)		555			Interaction with CCNA1.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.1665C>T	CCDS13759.1																																																																																				0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		21	37	0	0	0	1	0	21	37				
PPEF2	5470	broad.mit.edu	37	4	76797633	76797633	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797633G>A	ENST00000286719.7	-	11	1483	c.1127C>T	c.(1126-1128)cCc>cTc	p.P376L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCGCTGCAGGGGATGCTGGA	0.662																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1126-1128)cCc>cTc		protein phosphatase, EF-hand calcium binding domain 2							36.0	37.0	37.0					4																	76797633		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797633G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1127C>T	4.37:g.76797633G>A	ENSP00000286719:p.Pro376Leu						p.P376L	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1483	-			376			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1127C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023253	0.54683	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.41400	1.0	5.02	5.02	0.67125	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	1.650040	0.03142	N	0.166783	T	0.53948	0.1828	N	0.14661	0.345	0.50039	D	0.999846	D;D	0.76494	0.996;0.999	P;D	0.72982	0.865;0.979	T	0.40496	-0.9560	10	0.40728	T	0.16	-5.5414	15.8132	0.78581	0.0:0.0:1.0:0.0	.	376;376	O14830-2;O14830	.;PPE2_HUMAN	L	376	ENSP00000286719:P376L	ENSP00000286719:P376L	P	-	2	0	PPEF2	77016657	1.000000	0.71417	0.998000	0.56505	0.265000	0.26407	2.881000	0.48538	2.349000	0.79799	0.491000	0.48974	CCC		0.662	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		11	16	0	0	0	1	0	11	16				
PRKCG	5582	broad.mit.edu	37	19	54407892	54407892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54407892C>T	ENST00000263431.3	+	16	1942	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P554S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	554	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTGATAGCCTCCCTTCGATGG	0.582																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1660-1662)Ccc>Tcc		protein kinase C, gamma							92.0	62.0	72.0					19																	54407892		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54407892C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1660C>T	19.37:g.54407892C>T	ENSP00000263431:p.Pro554Ser					PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P554S	p.P554S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	16	1942	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		554			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1660C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640373	0.87859	.	.	ENSG00000126583	ENST00000540413;ENST00000263431	T;T	0.39229	1.09;1.09	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73434	0.3586	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81269	-0.1009	9	0.87932	D	0	.	16.3184	0.82936	0.0:1.0:0.0:0.0	.	554;554	F5H5C4;P05129	.;KPCG_HUMAN	S	554	ENSP00000443493:P554S;ENSP00000263431:P554S	ENSP00000263431:P554S	P	+	1	0	PRKCG	59099704	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	7.586000	0.82596	2.526000	0.85167	0.491000	0.48974	CCC		0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		4	16	0	0	0	1	0	4	16				
VCAN	1462	broad.mit.edu	37	5	82836515	82836515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836515G>A	ENST00000265077.3	+	8	8258	c.7693G>A	c.(7693-7695)Gaa>Aaa	p.E2565K	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1578K|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2565	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TACCATCCTTGAAATTCTACC	0.328																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(7693-7695)Gaa>Aaa		versican							55.0	59.0	57.0					5																	82836515		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836515G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7693G>A	5.37:g.82836515G>A	ENSP00000265077:p.Glu2565Lys					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1578K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	p.E2565K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8258	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2565			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7693G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047098	0.75846	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.43294	0.95;0.95	6.04	6.04	0.98038	.	0.088415	0.49305	D	0.000141	T	0.56093	0.1962	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.63283	0.913;0.82	T	0.48758	-0.9007	10	0.36615	T	0.2	.	14.1456	0.65349	0.0:0.0:0.8504:0.1496	.	1578;2565	P13611-2;P13611	.;CSPG2_HUMAN	K	2565;1578	ENSP00000265077:E2565K;ENSP00000340062:E1578K	ENSP00000265077:E2565K	E	+	1	0	VCAN	82872271	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.360000	0.52299	2.873000	0.98535	0.563000	0.77884	GAA		0.328	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		30	42	0	0	0	1	0	30	42				
FAM19A2	338811	broad.mit.edu	37	12	62147517	62147517	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:62147517C>T	ENST00000416284.3	-	4	1854	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	90						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATTTCTGTTCCACTATTGAAG	0.388																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(268-270)gtG>gtA		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							100.0	95.0	96.0					12																	62147517		2203	4300	6503	SO:0001819	synonymous_variant	338811					cytoplasm		g.chr12:62147517C>T	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.270G>A	12.37:g.62147517C>T						FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	p.V90V	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	4	1854	-			90					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Silent	SNP	ENST00000416284.3	37	c.270G>A	CCDS8962.1																																																																																				0.388	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		59	12	0	0	0	1	0	59	12				
LAMA1	284217	broad.mit.edu	37	18	7023295	7023295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7023295G>A	ENST00000389658.3	-	19	2662	c.2569C>T	c.(2569-2571)Ccc>Tcc	p.P857S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	857	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCCTCCGAGGGGTCCACGTTG	0.552																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2569-2571)Ccc>Tcc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						96.0	85.0	89.0					18																	7023295		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7023295G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2569C>T	18.37:g.7023295G>A	ENSP00000374309:p.Pro857Ser						p.P857S	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			19	2662	-		Colorectal(10;0.172)	857			Laminin EGF-like 8.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2569C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331336	0.41297	.	.	ENSG00000101680	ENST00000389658	T	0.60040	0.22	5.47	5.47	0.80525	EGF-like, laminin (3);	0.145736	0.46758	D	0.000271	T	0.70395	0.3219	L	0.60957	1.885	0.46478	D	0.999064	D	0.59767	0.986	P	0.60609	0.877	T	0.65417	-0.6173	10	0.27082	T	0.32	.	19.336	0.94319	0.0:0.0:1.0:0.0	.	857	P25391	LAMA1_HUMAN	S	857	ENSP00000374309:P857S	ENSP00000374309:P857S	P	-	1	0	LAMA1	7013295	1.000000	0.71417	0.706000	0.30403	0.211000	0.24417	3.176000	0.50863	2.578000	0.87016	0.643000	0.83706	CCC		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		23	40	0	0	0	1	0	23	40				
VPRBP	9730	broad.mit.edu	37	3	51440676	51440676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440676G>A	ENST00000335891.5	-	16	3028	c.3019C>T	c.(3019-3021)Ccc>Tcc	p.P1007S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCATCAGAGGGAGAGAAGTCA	0.532																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(3019-3021)Ccc>Tcc		Vpr (HIV-1) binding protein							147.0	148.0	148.0					3																	51440676		2138	4249	6387	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51440676G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.3019C>T	3.37:g.51440676G>A	ENSP00000338857:p.Pro1007Ser						p.P1007S			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	16	3028	-			1456					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.3019C>T		.	.	.	.	.	.	.	.	.	.	G	17.31	3.358418	0.61403	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.53857	0.6;0.6	5.74	5.74	0.90152	.	0.152914	0.64402	D	0.000012	T	0.43389	0.1245	N	0.24115	0.695	0.80722	D	1	P	0.40731	0.728	B	0.40285	0.325	T	0.18999	-1.0319	10	0.18276	T	0.48	-9.2664	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1456	Q9Y4B6	VPRBP_HUMAN	S	1027;1007	ENSP00000393183:P1027S;ENSP00000338857:P1007S	ENSP00000338857:P1007S	P	-	1	0	VPRBP	51415716	1.000000	0.71417	0.996000	0.52242	0.803000	0.45373	8.582000	0.90791	2.716000	0.92895	0.557000	0.71058	CCC		0.532	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		15	15	0	0	0	1	0	15	15				
ARHGAP15	55843	broad.mit.edu	37	2	144194581	144194581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:144194581G>A	ENST00000295095.6	+	8	840	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	225					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATATAAAAGAACAGAAACC	0.338																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(673-675)Gaa>Aaa		Rho GTPase activating protein 15							73.0	72.0	72.0					2																	144194581		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144194581G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.673G>A	2.37:g.144194581G>A	ENSP00000295095:p.Glu225Lys					AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA	p.E225K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	8	840	+			225					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.673G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888543	0.72524	.	.	ENSG00000075884	ENST00000295095	T	0.08008	3.14	5.55	5.55	0.83447	.	0.173380	0.49916	D	0.000125	T	0.27933	0.0688	M	0.62723	1.935	0.53005	D	0.999961	D;B	0.63880	0.993;0.012	D;B	0.72625	0.978;0.014	T	0.00171	-1.1960	10	0.37606	T	0.19	.	19.5081	0.95127	0.0:0.0:1.0:0.0	.	225;225	B4E0R3;Q53QZ3	.;RHG15_HUMAN	K	225	ENSP00000295095:E225K	ENSP00000295095:E225K	E	+	1	0	ARHGAP15	143911051	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.185000	0.77714	2.601000	0.87937	0.650000	0.86243	GAA		0.338	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		16	28	0	0	0	1	0	16	28				
ZNF831	128611	broad.mit.edu	37	20	57769129	57769129	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:57769129G>A	ENST00000371030.2	+	1	3055	c.3055G>A	c.(3055-3057)Ggg>Agg	p.G1019R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1019							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGAGAAAAGGGGCACAGTT	0.667																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3055-3057)Ggg>Agg		zinc finger protein 831							22.0	25.0	24.0					20																	57769129		1977	4156	6133	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769129G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3055G>A	20.37:g.57769129G>A	ENSP00000360069:p.Gly1019Arg						p.G1019R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3055	+	all_lung(29;0.0085)		1019					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3055G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685827	0.47991	.	.	ENSG00000124203	ENST00000371030	T	0.06933	3.24	4.56	3.6	0.41247	.	0.707533	0.13142	N	0.410599	T	0.09862	0.0242	L	0.32530	0.975	0.09310	N	1	P	0.46912	0.886	P	0.45946	0.498	T	0.17107	-1.0380	10	0.59425	D	0.04	-8.0216	9.8683	0.41157	0.0981:0.0:0.9019:0.0	.	1019	Q5JPB2	ZN831_HUMAN	R	1019	ENSP00000360069:G1019R	ENSP00000360069:G1019R	G	+	1	0	ZNF831	57202524	0.251000	0.23961	0.002000	0.10522	0.028000	0.11728	1.876000	0.39588	1.040000	0.40099	0.467000	0.42956	GGG		0.667	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		9	19	0	0	0	1	0	9	19				
LHB	3972	broad.mit.edu	37	19	49519378	49519378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519378C>T	ENST00000221421.2	-	3	372	c.373G>A	c.(373-375)Gac>Aac	p.D125N	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	125					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AAGGGGTGGTCTTTGGGACCC	0.652																																						ENST00000221421.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(373-375)Gac>Aac		luteinizing hormone beta polypeptide	Lutropin alfa(DB00044)|Menotropins(DB00032)						57.0	63.0	61.0					19																	49519378		2203	4300	6503	SO:0001583	missense	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519378C>T		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.373G>A	19.37:g.49519378C>T	ENSP00000221421:p.Asp125Asn						p.D125N	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	372	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	125					Q9UDI0	Missense_Mutation	SNP	ENST00000221421.2	37	c.373G>A	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435580	0.12104	.	.	ENSG00000104826	ENST00000221421;ENST00000391870	T	0.56941	0.43	4.71	0.732	0.18283	Cystine knot (1);Gonadotropin, beta subunit, conserved site (1);	0.595355	0.17478	N	0.172849	T	0.41834	0.1176	N	0.03948	-0.315	0.09310	N	1	D	0.71674	0.998	D	0.81914	0.995	T	0.32693	-0.9897	10	0.27785	T	0.31	-5.3264	6.6962	0.23201	0.0:0.6144:0.0:0.3856	.	125	P01229	LSHB_HUMAN	N	125;141	ENSP00000221421:D125N	ENSP00000221421:D125N	D	-	1	0	LHB	54211190	0.773000	0.28580	0.001000	0.08648	0.001000	0.01503	1.190000	0.32126	0.013000	0.14918	-0.448000	0.05591	GAC		0.652	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		38	62	0	0	0	1	0	38	62				
FAM47A	158724	broad.mit.edu	37	X	34148303	34148303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148303C>T	ENST00000346193.3	-	1	2144	c.2093G>A	c.(2092-2094)tGg>tAg	p.W698*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	698										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGAGGTACCATGCTCCATA	0.438																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2092-2094)tGg>tAg		family with sequence similarity 47, member A							98.0	93.0	95.0					X																	34148303		2202	4300	6502	SO:0001587	stop_gained	158724							g.chrX:34148303C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2093G>A	X.37:g.34148303C>T	ENSP00000345029:p.Trp698*						p.W698*	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2144	-			698					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.2093G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	36	5.662693	0.96734	.	.	ENSG00000185448	ENST00000346193	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	.	.	.	X	698	.	ENSP00000345029:W698X	W	-	2	0	FAM47A	34058224	1.000000	0.71417	0.932000	0.37286	0.706000	0.40770	1.172000	0.31908	0.880000	0.35969	0.544000	0.68410	TGG		0.438	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		41	73	0	0	0	1	0	41	73				
TRIM7	81786	broad.mit.edu	37	5	180622618	180622618	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:180622618T>G	ENST00000274773.7	-	7	1145	c.1084A>C	c.(1084-1086)Aag>Cag	p.K362Q	CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.K154Q|TRIM7_ENST00000393319.3_Missense_Mutation_p.K180Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.K154Q|CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.K154Q|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000512508.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CGCACGCCCTTAAGATCCAGA	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(460-462)Aag>Cag		tripartite motif containing 7							44.0	50.0	48.0					5																	180622618		2184	4242	6426	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622618T>G	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1084A>C	5.37:g.180622618T>G	ENSP00000274773:p.Lys362Gln					TRIM7_ENST00000422067.2_Missense_Mutation_p.K154Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.K362Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K180Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.K154Q	p.K154Q	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1157	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	362					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.460A>C	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075498	0.55646	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.57	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000022	T	0.35128	0.0921	M	0.74546	2.27	0.42193	D	0.991739	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.09015	-1.0694	10	0.41790	T	0.15	.	11.9119	0.52743	0.0:0.0:0.0:1.0	.	362;180	Q9C029;Q9C029-4	TRIM7_HUMAN;.	Q	362;154;154;180;154	ENSP00000274773:K362Q;ENSP00000376991:K154Q;ENSP00000355059:K154Q;ENSP00000376994:K180Q;ENSP00000391458:K154Q	ENSP00000274773:K362Q	K	-	1	0	TRIM7	180555224	0.998000	0.40836	1.000000	0.80357	0.131000	0.20780	4.130000	0.57964	1.693000	0.51124	0.448000	0.29417	AAG		0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		32	41	0	0	0	1	0	32	41				
LMTK3	114783	broad.mit.edu	37	19	49000676	49000676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49000676G>A	ENST00000600059.1	-	11	3877	c.3650C>T	c.(3649-3651)cCt>cTt	p.P1217L	LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1217	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTTCCCCTGAGGGGGTCCCAA	0.667																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3649-3651)cCt>cTt		lemur tyrosine kinase 3							48.0	55.0	53.0					19																	49000676		2085	4195	6280	SO:0001583	missense	114783							g.chr19:49000676G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3650C>T	19.37:g.49000676G>A	ENSP00000472020:p.Pro1217Leu					LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246L	p.P1217L						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3877	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.3650C>T		.	.	.	.	.	.	.	.	.	.	G	15.22	2.769723	0.49680	.	.	ENSG00000142235	ENST00000270238	T	0.78364	-1.17	3.8	3.8	0.43715	.	0.325582	0.24147	N	0.041113	T	0.70622	0.3245	N	0.19112	0.55	0.39398	D	0.966544	D	0.58268	0.982	P	0.51193	0.662	T	0.74112	-0.3770	10	0.51188	T	0.08	.	11.3704	0.49696	0.0:0.0:1.0:0.0	.	1217	Q96Q04	LMTK3_HUMAN	L	1246	ENSP00000270238:P1246L	ENSP00000270238:P1246L	P	-	2	0	LMTK3	53692488	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.749000	0.38319	2.134000	0.65973	0.563000	0.77884	CCT		0.667	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		16	49	0	0	0	1	0	16	49				
AMPH	273	broad.mit.edu	37	7	38431519	38431519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38431519C>T	ENST00000356264.2	-	19	1923	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Missense_Mutation_p.E528K|AMPH_ENST00000325590.5_Missense_Mutation_p.E528K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	570					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCCGCGTCCTCGGTGGTCTCC	0.597																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1708-1710)Gag>Aag		amphiphysin							63.0	60.0	61.0					7																	38431519		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431519C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1708G>A	7.37:g.38431519C>T	ENSP00000348602:p.Glu570Lys					AMPH_ENST00000325590.5_Missense_Mutation_p.E528K|AMPH_ENST00000428293.2_Missense_Mutation_p.E528K	p.E570K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			19	1923	-			570					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1708G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282379|2.282379	0.40394|0.40394	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.62364|.	0.03;0.06;0.06|.	5.75|5.75	1.78|1.78	0.24846|0.24846	.|.	2.004080|.	0.02439|.	N|.	0.084366|.	T|T	0.31765|0.31765	0.0807|0.0807	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.50066|.	0.683;0.776;0.931|.	B;B;B|.	0.33295|.	0.084;0.116;0.161|.	T|T	0.22661|0.22661	-1.0210|-1.0210	10|5	0.30078|.	T|.	0.28|.	0.0768|0.0768	11.6387|11.6387	0.51220|0.51220	0.0:0.5882:0.3484:0.0634|0.0:0.5882:0.3484:0.0634	.|.	528;570;458|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	K|Q	528;570;528;472|452	ENSP00000317441:E528K;ENSP00000348602:E570K;ENSP00000390734:E528K|.	ENSP00000317441:E528K|.	E|R	-|-	1|2	0|0	AMPH|AMPH	38398044|38398044	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.494000|0.494000	0.22467|0.22467	0.049000|0.049000	0.15920|0.15920	-0.274000|-0.274000	0.10170|0.10170	GAG|CGA		0.597	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		29	35	0	0	0	1	0	29	35				
PLK4	10733	broad.mit.edu	37	4	128811293	128811293	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811293C>T	ENST00000270861.5	+	7	2006	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	PLK4_ENST00000514379.1_Missense_Mutation_p.P537S|PLK4_ENST00000515069.1_Missense_Mutation_p.P500S|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Missense_Mutation_p.P546S|PLK4_ENST00000507249.1_Missense_Mutation_p.P544S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGGTATGGAGCCACCATGGGG	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1732-1734)Cca>Tca		polo-like kinase 4							85.0	80.0	82.0					4																	128811293		2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128811293C>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1732C>T	4.37:g.128811293C>T	ENSP00000270861:p.Pro578Ser					PLK4_ENST00000514379.1_Missense_Mutation_p.P537S|PLK4_ENST00000513090.1_Missense_Mutation_p.P546S|PLK4_ENST00000507249.1_Missense_Mutation_p.P544S|PLK4_ENST00000515069.1_Missense_Mutation_p.P500S	p.P578S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			7	2006	+			578					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.1732C>T	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	8.682	0.905450	0.17760	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.28	2.21	0.28008	.	0.415874	0.28156	N	0.016389	T	0.17450	0.0419	L	0.41027	1.25	0.30440	N	0.776319	B;B	0.19331	0.035;0.005	B;B	0.17979	0.02;0.009	T	0.21415	-1.0246	10	0.20519	T	0.43	0.0024	7.4244	0.27090	0.0:0.6648:0.0:0.3352	.	546;578	O00444-2;O00444	.;PLK4_HUMAN	S	578;500;546;544;537	ENSP00000270861:P578S;ENSP00000421774:P500S;ENSP00000427554:P546S;ENSP00000423412:P544S;ENSP00000423582:P537S	ENSP00000270861:P578S	P	+	1	0	PLK4	129030743	0.541000	0.26417	0.756000	0.31282	0.790000	0.44656	0.438000	0.21559	0.075000	0.16796	0.491000	0.48974	CCA		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			9	38	0	0	0	1	0	9	38				
TLN2	83660	broad.mit.edu	37	15	62978840	62978840	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:62978840G>A	ENST00000561311.1	+	11	1188	c.958G>A	c.(958-960)Gag>Aag	p.E320K	TLN2_ENST00000306829.6_Splice_Site_p.E320K|RP11-625H11.2_ENST00000559589.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	320	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGTTTCAGGAGAAGATGAA	0.493																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.e11-1		talin 2							42.0	37.0	38.0					15																	62978840		2203	4300	6503	SO:0001630	splice_region_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62978840G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.958-1G>A	15.37:g.62978840G>A						RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Splice_Site_p.E320_splice	p.E320_splice			Q9Y4G6	TLN2_HUMAN			11	1188	+			320			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Splice_Site	SNP	ENST00000561311.1	37	c.957_splice	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676218	0.96764	.	.	ENSG00000171914	ENST00000306829	T	0.48201	0.82	5.92	5.92	0.95590	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77998	-0.2376	9	.	.	.	-24.0371	20.3172	0.98658	0.0:0.0:1.0:0.0	.	320	Q9Y4G6	TLN2_HUMAN	K	320	ENSP00000303476:E320K	.	E	+	1	0	TLN2	60766132	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.696000	0.98695	2.801000	0.96364	0.650000	0.86243	GAG		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		Missense_Mutation	7	8	0	0	0	1	0	7	8				
VWF	7450	broad.mit.edu	37	12	6120860	6120860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6120860C>T	ENST00000261405.5	-	34	6019	c.5765G>A	c.(5764-5766)gGg>gAg	p.G1922E		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1922					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCCTCAGCCCCCGGTCACA	0.622																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5764-5766)gGg>gAg		von Willebrand factor	Antihemophilic Factor(DB00025)						34.0	33.0	34.0					12																	6120860		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6120860C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5765G>A	12.37:g.6120860C>T	ENSP00000261405:p.Gly1922Glu						p.G1922E	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			34	6019	-			1922					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5765G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	4.513	0.095199	0.08681	.	.	ENSG00000110799	ENST00000261405	T	0.35236	1.32	5.03	3.17	0.36434	.	0.000000	0.41712	D	0.000821	T	0.25606	0.0623	L	0.60455	1.87	0.09310	N	0.999998	B	0.31680	0.335	B	0.27500	0.08	T	0.20075	-1.0286	10	0.07813	T	0.8	.	6.489	0.22105	0.4257:0.49:0.0:0.0844	.	1922	P04275	VWF_HUMAN	E	1922	ENSP00000261405:G1922E	ENSP00000261405:G1922E	G	-	2	0	VWF	5991121	0.071000	0.21146	0.032000	0.17829	0.959000	0.62525	2.357000	0.44125	0.679000	0.31345	0.557000	0.71058	GGG		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	17	0	0	0	1	0	16	17				
YJEFN3	374887	broad.mit.edu	37	19	19646389	19646389	+	Missense_Mutation	SNP	C	C	T	rs568922370		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646389C>T	ENST00000514277.4	+	6	633	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P198S|CILP2_ENST00000586018.1_5'Flank|YJEFN3_ENST00000436027.5_Missense_Mutation_p.P149S|CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P198S	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	199	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CGTACTGGGCCCCGGCGTGGA	0.697																																						ENST00000555938.1																			0											c.(592-594)Ccc>Tcc									30.0	33.0	32.0					19																	19646389		1972	4132	6104	SO:0001583	missense	374887							g.chr19:19646389C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.595C>T	19.37:g.19646389C>T	ENSP00000426964:p.Pro199Ser					YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199S|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149S	p.P198S							7	604	+								A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.592C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714527	0.68730	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.39056	1.1;1.1;1.1	4.37	4.37	0.52481	YjeF-related protein, N-terminal (5);	1.220040	0.05928	N	0.634596	T	0.50222	0.1603	L	0.38838	1.175	0.48762	D	0.9997	D;P;D	0.53312	0.959;0.908;0.959	P;P;P	0.55508	0.777;0.52;0.643	T	0.32052	-0.9921	10	0.62326	D	0.03	-21.4583	9.8466	0.41030	0.2049:0.7951:0.0:0.0	.	198;149;199	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	S	198;199;149;199;149;198	ENSP00000398520:P149S;ENSP00000426964:P199S;ENSP00000452549:P198S	ENSP00000389732:P198S	P	+	1	0	YJEFN3;CTC-260F20.3	19507389	0.002000	0.14202	0.911000	0.35937	0.923000	0.55619	1.419000	0.34793	1.992000	0.58205	0.456000	0.33151	CCC		0.697	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		8	17	0	0	0	1	0	8	17				
USP19	10869	broad.mit.edu	37	3	49152479	49152479	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49152479G>A	ENST00000398888.2	-	13	2103	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	USP19_ENST00000398892.3_Silent_p.F635F|USP19_ENST00000453664.1_Silent_p.F686F|USP19_ENST00000434032.2_Silent_p.F696F|USP19_ENST00000398896.1_Silent_p.F403F|USP19_ENST00000398898.2_Silent_p.F635F|USP19_ENST00000417901.1_Silent_p.F698F|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	595	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCAGCAGGAAAGCCATGA	0.567																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2056-2058)ttC>ttT		ubiquitin specific peptidase 19							88.0	91.0	90.0					3																	49152479		2128	4243	6371	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49152479G>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1785C>T	3.37:g.49152479G>A						USP19_ENST00000398898.2_Silent_p.F635F|USP19_ENST00000398888.2_Silent_p.F595F|USP19_ENST00000417901.1_Silent_p.F698F|USP19_ENST00000434032.2_Silent_p.F696F|USP19_ENST00000398896.1_Silent_p.F403F|USP19_ENST00000398892.3_Silent_p.F635F	p.F686F	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	14	2376	-			595					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.2058C>T	CCDS43090.1																																																																																				0.567	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		14	44	0	0	0	1	0	14	44				
PCDHB12	56124	broad.mit.edu	37	5	140590801	140590801	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140590801C>T	ENST00000239450.2	+	1	2511	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Silent_p.F437F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	774					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCTACCCCAGA	0.428																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2320-2322)ttC>ttT									72.0	73.0	73.0					5																	140590801		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590801C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2322C>T	5.37:g.140590801C>T						PCDHB12_ENST00000541609.1_Silent_p.F437F	p.F774F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2511	+			774					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.2322C>T	CCDS4254.1																																																																																				0.428	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		40	40	0	0	0	1	0	40	40				
PPIF	10105	broad.mit.edu	37	10	81113531	81113531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113531C>T	ENST00000225174.3	+	6	628	c.557C>T	c.(556-558)tCt>tTt	p.S186F	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	AAAATAGAATCTTTCGGCTCT	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(556-558)tCt>tTt		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						172.0	146.0	155.0					10																	81113531		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113531C>T	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.557C>T	10.37:g.81113531C>T	ENSP00000225174:p.Ser186Phe					PPIF_ENST00000394579.3_3'UTR	p.S186F	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	628	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		186			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.557C>T	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372481	0.82573	.	.	ENSG00000108179	ENST00000225174	T	0.23552	1.9	5.8	4.89	0.63831	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.382445	0.30185	N	0.010217	T	0.47930	0.1472	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	P	0.60117	0.869	T	0.48468	-0.9033	10	0.36615	T	0.2	-7.7265	15.1943	0.73075	0.0:0.5806:0.4194:0.0	.	186	P30405	PPIF_HUMAN	F	186	ENSP00000225174:S186F	ENSP00000225174:S186F	S	+	2	0	PPIF	80783537	0.995000	0.38212	0.933000	0.37362	0.995000	0.86356	2.968000	0.49224	1.440000	0.47531	0.655000	0.94253	TCT		0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		36	41	0	0	0	1	0	36	41				
TRIM71	131405	broad.mit.edu	37	3	32932864	32932864	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:32932864G>A	ENST00000383763.5	+	4	2231	c.2168G>A	c.(2167-2169)cGg>cAg	p.R723Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	723					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAACCACCGGATCCAGCTG	0.542																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2167-2169)cGg>cAg		tripartite motif containing 71, E3 ubiquitin protein ligase							45.0	51.0	49.0					3																	32932864		2019	4170	6189	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932864G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2168G>A	3.37:g.32932864G>A	ENSP00000373272:p.Arg723Gln						p.R723Q	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2231	+			723						Missense_Mutation	SNP	ENST00000383763.5	37	c.2168G>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743168	0.89663	.	.	ENSG00000206557	ENST00000383763	T	0.77620	-1.11	5.86	5.86	0.93980	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89594	0.3830	10	0.25106	T	0.35	-43.5174	18.7393	0.91768	0.0:0.0:1.0:0.0	.	723	Q2Q1W2	LIN41_HUMAN	Q	723	ENSP00000373272:R723Q	ENSP00000373272:R723Q	R	+	2	0	TRIM71	32907868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.866000	0.99616	2.774000	0.95407	0.655000	0.94253	CGG		0.542	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		16	19	0	0	0	1	0	16	19				
BCL2L10	10017	broad.mit.edu	37	15	52404618	52404618	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52404618G>T	ENST00000561198.1	-	1	347	c.306C>A	c.(304-306)acC>acA	p.T102T	BCL2L10_ENST00000260442.3_Silent_p.T102T			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		TCCCTGCGAAGGTCACGAGCG	0.701																																						ENST00000260442.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(304-306)acC>acA		BCL2-like 10 (apoptosis facilitator)							14.0	16.0	15.0					15																	52404618		2190	4280	6470	SO:0001819	synonymous_variant	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52404618G>T	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.306C>A	15.37:g.52404618G>T						BCL2L10_ENST00000561198.1_Silent_p.T102T	p.T102T	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	1	354	-			92					Q3SX80|Q52LQ9|Q8TCS9	Silent	SNP	ENST00000561198.1	37	c.306C>A																																																																																					0.701	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1			16	19	1	0	0.006122	1	0.00613118	16	19				
UGT2B4	7363	broad.mit.edu	37	4	70346427	70346427	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70346427C>T	ENST00000305107.6	-	6	1558	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	UGT2B4_ENST00000381096.3_Silent_p.V368V|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	504					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V504V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TGATGAATATCACAGTTGCCA	0.488																																						ENST00000305107.6																			1	Substitution - coding silent(1)	p.V504V(1)	lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1510-1512)gtG>gtA		UDP glucuronosyltransferase 2 family, polypeptide B4							146.0	141.0	143.0					4																	70346427		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346427C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1512G>A	4.37:g.70346427C>T						UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V	p.V504V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			6	1558	-			504					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.1512G>A	CCDS43234.1																																																																																				0.488	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		55	64	0	0	0	1	0	55	64				
ZSCAN18	65982	broad.mit.edu	37	19	58596244	58596244	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58596244C>T	ENST00000240727.6	-	7	1740	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.W311*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.W503*|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.W447*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	447					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAAGGTCTTCCAGCAGCCCT	0.687																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1339-1341)tgG>tgA		zinc finger and SCAN domain containing 18							28.0	23.0	25.0					19																	58596244		2193	4292	6485	SO:0001587	stop_gained	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596244C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1341G>A	19.37:g.58596244C>T	ENSP00000240727:p.Trp447*					ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.W311*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.W503*|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.W447*	p.W447*	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1740	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	447					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Nonsense_Mutation	SNP	ENST00000240727.6	37	c.1341G>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	42	9.298870	0.99128	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	.	.	.	3.94	2.87	0.33458	.	0.242716	0.21791	N	0.069068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-2.2661	10.3514	0.43939	0.2179:0.7821:0.0:0.0	.	.	.	.	X	503;447;311	.	ENSP00000240727:W447X	W	-	3	0	ZSCAN18	63288056	0.003000	0.15002	0.994000	0.49952	0.939000	0.58152	-0.528000	0.06193	0.925000	0.37094	0.561000	0.74099	TGG		0.687	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		6	11	0	0	0	1	0	6	11				
TTN	7273	broad.mit.edu	37	2	179437888	179437888	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179437888G>A	ENST00000591111.1	-	276	68272	c.68048C>T	c.(68047-68049)cCt>cTt	p.P22683L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451L|TTN_ENST00000342992.6_Missense_Mutation_p.P21756L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24324L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15259L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22683					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)			TGGTGGTCCAGGTTTAAACAC	0.433																																						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.(72970-72972)cCt>cTt		titin							101.0	99.0	100.0					2																	179437888		1924	4133	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437888G>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.68048C>T	2.37:g.179437888G>A	ENSP00000465570:p.Pro22683Leu					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21756L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22683L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451L|TTN_ENST00000460472.2_Missense_Mutation_p.P15259L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P24324L	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	73195	-			22683			Fibronectin type-III 76.		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.72971C>T		.	.	.	.	.	.	.	.	.	.	G	13.97	2.394680	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.99	5.99	0.97316	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96352	0.8810	H	0.99357	4.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.997	D	0.97467	1.0038	9	0.87932	D	0	.	20.4488	0.99124	0.0:0.0:1.0:0.0	.	15259;15384;15451;22683	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21756;15259;15451;15384;15257	ENSP00000343764:P21756L;ENSP00000434586:P15259L;ENSP00000340554:P15451L;ENSP00000352154:P15384L	ENSP00000340554:P15451L	P	-	2	0	TTN	179146134	1.000000	0.71417	0.980000	0.43619	0.799000	0.45148	9.869000	0.99810	2.843000	0.97960	0.655000	0.94253	CCT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	47	0	0	0	1	0	29	47				
RYR2	6262	broad.mit.edu	37	1	237666759	237666759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237666759C>T	ENST00000366574.2	+	22	2884	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	RYR2_ENST00000542537.1_Missense_Mutation_p.S840F|RYR2_ENST00000360064.6_Missense_Mutation_p.S854F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	856	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCACAGTTTCCCTGACGCAA	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2566-2568)tCc>tTc		ryanodine receptor 2 (cardiac)							109.0	113.0	112.0					1																	237666759		2042	4191	6233	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237666759C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2567C>T	1.37:g.237666759C>T	ENSP00000355533:p.Ser856Phe					RYR2_ENST00000360064.6_Missense_Mutation_p.S854F|RYR2_ENST00000542537.1_Missense_Mutation_p.S840F	p.S856F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2884	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	856			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2567C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	8.383	0.837862	0.16891	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96587	-4.06;-4.02;-4.05	5.62	5.62	0.85841	.	0.361157	0.21647	N	0.071253	D	0.89955	0.6865	N	0.05574	-0.02	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.85665	0.1291	10	0.09843	T	0.71	.	16.3236	0.82964	0.1326:0.8674:0.0:0.0	.	856	Q92736	RYR2_HUMAN	F	856;854;840	ENSP00000355533:S856F;ENSP00000353174:S854F;ENSP00000443798:S840F	ENSP00000353174:S854F	S	+	2	0	RYR2	235733382	0.046000	0.20272	0.963000	0.40424	0.960000	0.62799	2.658000	0.46733	2.801000	0.96364	0.650000	0.86243	TCC		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		50	22	0	0	0	1	0	50	22				
OR10V1	390201	broad.mit.edu	37	11	59480636	59480636	+	Missense_Mutation	SNP	C	C	T	rs548486282		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480636C>T	ENST00000307552.2	-	1	701	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGACCGGATCCGTAAAATGGC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		21540	0.0		0.0	False		,,,				2504	0.001					ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(682-684)cGg>cAg		olfactory receptor, family 10, subfamily V, member 1							91.0	80.0	84.0					11																	59480636		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480636C>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.683G>A	11.37:g.59480636C>T	ENSP00000302199:p.Arg228Gln						p.R228Q	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	701	-			228					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.683G>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977120	0.34848	.	.	ENSG00000172289	ENST00000307552	T	0.00231	8.49	4.47	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	0.137384	0.33327	N	0.005034	T	0.00144	0.0004	L	0.50993	1.605	0.09310	N	1	B	0.28208	0.203	B	0.22880	0.042	T	0.40997	-0.9533	10	0.54805	T	0.06	.	9.2147	0.37339	0.0:0.3929:0.0:0.6071	.	228	Q8NGI7	O10V1_HUMAN	Q	228	ENSP00000302199:R228Q	ENSP00000302199:R228Q	R	-	2	0	OR10V1	59237212	0.000000	0.05858	0.058000	0.19502	0.896000	0.52359	-0.276000	0.08514	-0.191000	0.10448	0.543000	0.68304	CGG		0.493	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		32	43	0	0	0	1	0	32	43				
FAM24B	196792	broad.mit.edu	37	10	124608807	124608807	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:124608807C>T	ENST00000368898.3	-	4	531	c.241G>A	c.(241-243)Gat>Aat	p.D81N	CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_5'UTR|FAM24B_ENST00000368896.1_Missense_Mutation_p.D81N|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	81						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGGAATCAAAACTGGCA	0.483																																						ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(241-243)Gat>Aat		family with sequence similarity 24, member B							138.0	114.0	122.0					10																	124608807		2203	4300	6503	SO:0001583	missense	196792					extracellular region		g.chr10:124608807C>T	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.241G>A	10.37:g.124608807C>T	ENSP00000357894:p.Asp81Asn					FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.D81N	p.D81N	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	4	531	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	81					Q5JPG1	Missense_Mutation	SNP	ENST00000368898.3	37	c.241G>A	CCDS31303.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523508	0.27299	.	.	ENSG00000213185	ENST00000368898;ENST00000368896	T;T	0.47869	0.83;0.83	3.12	2.2	0.27929	.	0.770342	0.10987	N	0.612064	T	0.29458	0.0734	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.18650	-1.0330	9	0.25106	T	0.35	.	5.4982	0.16815	0.0:0.8411:0.0:0.1589	.	81	Q8N5W8	FA24B_HUMAN	N	81	ENSP00000357894:D81N;ENSP00000357892:D81N	ENSP00000357892:D81N	D	-	1	0	FAM24B	124598797	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.852000	0.27764	0.851000	0.35264	0.467000	0.42956	GAT		0.483	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		31	47	0	0	0	1	0	31	47				
KCNB1	3745	broad.mit.edu	37	20	47991509	47991509	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:47991509G>A	ENST00000371741.4	-	2	754	c.588C>T	c.(586-588)atC>atT	p.I196I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	196					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CGATGAACATGATGGAAATTA	0.517																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(586-588)atC>atT		potassium voltage-gated channel, Shab-related subfamily, member 1							104.0	87.0	93.0					20																	47991509		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991509G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.588C>T	20.37:g.47991509G>A							p.I196I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	754	-			196					Q14193	Silent	SNP	ENST00000371741.4	37	c.588C>T	CCDS13418.1																																																																																				0.517	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		18	32	0	0	0	1	0	18	32				
RFPL1	5988	broad.mit.edu	37	22	29834827	29834827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834827G>A	ENST00000354373.2	+	1	256	c.47G>A	c.(46-48)gGa>gAa	p.G16E	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCACCTCACGGAAATTTTCTT	0.463																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(46-48)gGa>gAa		ret finger protein-like 1							111.0	107.0	108.0					22																	29834827		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834827G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.47G>A	22.37:g.29834827G>A	ENSP00000346342:p.Gly16Glu					RFPL1S_ENST00000461286.2_RNA	p.G16E	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	256	+			16					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.47G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	1.879	-0.458403	0.04508	.	.	ENSG00000128250	ENST00000354373	T	0.52526	0.66	1.61	0.121	0.14695	.	.	.	.	.	T	0.24275	0.0588	L	0.38175	1.15	0.09310	N	1	B	0.33494	0.414	B	0.22601	0.04	T	0.20505	-1.0273	9	0.02654	T	1	.	4.9351	0.13937	0.0:0.3922:0.6078:0.0	.	16	O75677	RFPL1_HUMAN	E	16	ENSP00000346342:G16E	ENSP00000346342:G16E	G	+	2	0	RFPL1	28164827	0.008000	0.16893	0.008000	0.14137	0.003000	0.03518	0.543000	0.23237	0.820000	0.34516	0.493000	0.49557	GGA		0.463	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		45	74	0	0	0	1	0	45	74				
TMEM201	199953	broad.mit.edu	37	1	9657024	9657024	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9657024G>A	ENST00000340381.6	+	3	351	c.342G>A	c.(340-342)gtG>gtA	p.V114V	TMEM201_ENST00000340305.5_Silent_p.V114V|TMEM201_ENST00000377376.4_Silent_p.V114V	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	114					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGTGGGTGAGCAGCCAAG	0.652																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(340-342)gtG>gtA		transmembrane protein 201							59.0	58.0	58.0					1																	9657024		2203	4300	6503	SO:0001819	synonymous_variant	199953					integral to membrane|nuclear inner membrane		g.chr1:9657024G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.342G>A	1.37:g.9657024G>A						TMEM201_ENST00000377376.4_Silent_p.V114V|TMEM201_ENST00000340381.6_Silent_p.V114V	p.V114V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	3	351	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	114					B9EH90|Q5SNT3	Silent	SNP	ENST00000340381.6	37	c.342G>A	CCDS44055.2	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525495	0.27299	.	.	ENSG00000188807	ENST00000416541	.	.	.	5.13	3.08	0.35506	.	.	.	.	.	T	0.62938	0.2469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61647	-0.7020	4	.	.	.	-26.3175	12.5753	0.56359	0.0:0.3195:0.6805:0.0	.	.	.	.	K	24	.	.	E	+	1	0	TMEM201	9579611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.028000	0.41088	1.110000	0.41699	0.561000	0.74099	GAG		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		15	46	0	0	0	1	0	15	46				
FKRP	79147	broad.mit.edu	37	19	47259974	47259974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47259974C>T	ENST00000318584.5	+	4	1564	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R423C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	423					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CTTCTACCCCCGCAATGGCGT	0.637																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1267-1269)Cgc>Tgc		fukutin related protein							83.0	47.0	59.0					19																	47259974		2203	4300	6503	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259974C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1267C>T	19.37:g.47259974C>T	ENSP00000326570:p.Arg423Cys					FKRP_ENST00000391909.3_Missense_Mutation_p.R423C|FKRP_ENST00000600646.1_Intron	p.R423C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1564	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	423					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1267C>T	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403527	0.62288	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99527	-6.09;-6.09	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	P	0.57324	0.818	D	0.98708	1.0703	10	0.66056	D	0.02	-15.1026	13.0783	0.59099	0.1614:0.8386:0.0:0.0	.	423	Q9H9S5	FKRP_HUMAN	C	423	ENSP00000375776:R423C;ENSP00000326570:R423C	ENSP00000326570:R423C	R	+	1	0	FKRP	51951814	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.946000	0.49050	2.413000	0.81919	0.305000	0.20034	CGC		0.637	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		4	7	0	0	0	1	0	4	7				
RXFP2	122042	broad.mit.edu	37	13	32367008	32367008	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32367008C>T	ENST00000298386.2	+	16	1640	c.1569C>T	c.(1567-1569)gtC>gtT	p.V523V	RXFP2_ENST00000380314.1_Silent_p.V499V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	523					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGTTCCTGGTCATTGTCTTCC	0.502																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1567-1569)gtC>gtT		relaxin/insulin-like family peptide receptor 2							109.0	92.0	98.0					13																	32367008		2203	4300	6503	SO:0001819	synonymous_variant	122042					integral to membrane|plasma membrane		g.chr13:32367008C>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1569C>T	13.37:g.32367008C>T						RXFP2_ENST00000380314.1_Silent_p.V499V	p.V523V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1640	+		Lung SC(185;0.0262)	523					B1ALE9|Q3KU23	Silent	SNP	ENST00000298386.2	37	c.1569C>T	CCDS9342.1																																																																																				0.502	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		19	24	0	0	0	1	0	19	24				
CD93	22918	broad.mit.edu	37	20	23065569	23065569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:23065569C>T	ENST00000246006.4	-	1	1408	c.1261G>A	c.(1261-1263)Gac>Aac	p.D421N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	421	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGAGTCCCGTCCTCCCCGGCC	0.642																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1261-1263)Gac>Aac		CD93 molecule							43.0	47.0	46.0					20																	23065569		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065569C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1261G>A	20.37:g.23065569C>T	ENSP00000246006:p.Asp421Asn						p.D421N	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1408	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		421			EGF-like 4; calcium-binding (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1261G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039904	0.55003	.	.	ENSG00000125810	ENST00000246006	D	0.93488	-3.23	5.18	1.96	0.26148	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.111591	0.39020	N	0.001489	D	0.87537	0.6202	L	0.41710	1.295	0.35886	D	0.829336	B	0.29162	0.235	B	0.29524	0.103	D	0.83595	0.0125	10	0.35671	T	0.21	-30.5513	7.2867	0.26344	0.0:0.7032:0.1398:0.157	.	421	Q9NPY3	C1QR1_HUMAN	N	421	ENSP00000246006:D421N	ENSP00000246006:D421N	D	-	1	0	CD93	23013569	0.011000	0.17503	0.056000	0.19401	0.042000	0.13812	0.201000	0.17276	0.669000	0.31146	0.650000	0.86243	GAC		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		34	51	0	0	0	1	0	34	51				
RELL2	285613	broad.mit.edu	37	5	141018523	141018523	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141018523C>T	ENST00000297164.3	+	3	1452	c.252C>T	c.(250-252)gcC>gcT	p.A84A	RELL2_ENST00000521367.1_Splice_Site_p.A18A|RELL2_ENST00000518856.1_Splice_Site_p.A18A|HDAC3_ENST00000305264.3_5'Flank|FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000444782.1_Splice_Site_p.A84A	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	84					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCTCAGCCAATGCTGAGG	0.557																																						ENST00000297164.3																			0				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9						c.e3-1		RELT-like 2							90.0	89.0	89.0					5																	141018523		2203	4300	6503	SO:0001630	splice_region_variant	285613					integral to membrane|plasma membrane		g.chr5:141018523C>T	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.251-1C>T	5.37:g.141018523C>T						RELL2_ENST00000444782.1_Splice_Site_p.A84_splice|RELL2_ENST00000518856.1_Splice_Site_p.A18_splice|RELL2_ENST00000521367.1_Splice_Site_p.A18_splice|RELL2_ENST00000518025.1_Intron	p.A84_splice	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1452	+			84					D3DQE2|Q6P4E7|Q6UXY2	Splice_Site	SNP	ENST00000297164.3	37	c.250_splice	CCDS4265.1																																																																																				0.557	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828	Silent	22	28	0	0	0	1	0	22	28				
TMPRSS6	164656	broad.mit.edu	37	22	37499343	37499343	+	Missense_Mutation	SNP	G	G	A	rs201819965		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:37499343G>A	ENST00000346753.3	-	2	258	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R39W|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R48W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R39W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	48					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGGTAGCCCCGGGCTTTTCTC	0.662																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(115-117)Cgg>Tgg		transmembrane protease, serine 6							68.0	75.0	73.0					22																	37499343		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499343G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.142C>T	22.37:g.37499343G>A	ENSP00000334962:p.Arg48Trp					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R48W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R48W	p.R39W			Q8IU80	TMPS6_HUMAN			2	255	-			48					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.115C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704158	0.30232	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.92911	-3.13;-3.13;-3.13;-3.13;-1.27;-2.89	3.87	0.353	0.16058	.	0.156705	0.40818	N	0.001001	D	0.86810	0.6022	M	0.63843	1.955	0.09310	N	1	B;B;B	0.15141	0.012;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.0	T	0.77723	-0.2481	10	0.72032	D	0.01	.	2.6901	0.05118	0.1081:0.1813:0.5244:0.1863	.	48;39;48	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	W	39;48;39;39;48;39	ENSP00000371211:R39W;ENSP00000334962:R48W;ENSP00000385453:R39W;ENSP00000384964:R39W;ENSP00000397691:R48W;ENSP00000400317:R39W	ENSP00000334962:R48W	R	-	1	2	TMPRSS6	35829289	0.001000	0.12720	0.120000	0.21714	0.610000	0.37248	0.728000	0.26013	0.294000	0.22547	0.549000	0.68633	CGG		0.662	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		46	60	0	0	0	1	0	46	60				
COIL	8161	broad.mit.edu	37	17	55027332	55027332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:55027332G>A	ENST00000240316.4	-	2	1305	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	424	2 X 4 AA repeats of S-L-P-A.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TACAACACAGGAAACAGGATG	0.443																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1270-1272)tCc>tTc		coilin							89.0	94.0	92.0					17																	55027332		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027332G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1271C>T	17.37:g.55027332G>A	ENSP00000240316:p.Ser424Phe						p.S424F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	1305	-	Breast(9;6.15e-08)		424			2 X 4 AA repeats of S-L-P-A.		B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1271C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539040	0.27475	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.95	2.77	0.32553	.	0.755412	0.13199	N	0.406138	T	0.39489	0.1080	L	0.47716	1.5	0.09310	N	1	B	0.21071	0.051	B	0.21917	0.037	T	0.36744	-0.9735	9	0.66056	D	0.02	0.1089	7.4312	0.27128	0.1957:0.0:0.6807:0.1236	.	424	P38432	COIL_HUMAN	F	424	.	ENSP00000240316:S424F	S	-	2	0	COIL	52382331	0.018000	0.18449	0.002000	0.10522	0.005000	0.04900	2.059000	0.41384	1.528000	0.49103	-0.251000	0.11542	TCC		0.443	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			47	76	0	0	0	1	0	47	76				
ANKRD30A	91074	broad.mit.edu	37	10	37506784	37506784	+	Missense_Mutation	SNP	G	G	A	rs199618076		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37506784G>A	ENST00000602533.1	+	33	3176	c.3077G>A	c.(3076-3078)aGt>aAt	p.S1026N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.S1145N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1026N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1082					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATTGAAGAGTGTAGAAAGT	0.294																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3433-3435)aGt>aAt		ankyrin repeat domain 30A							60.0	58.0	59.0					10																	37506784		1802	4060	5862	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506784G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3077G>A	10.37:g.37506784G>A	ENSP00000473551:p.Ser1026Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1026N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1026N	p.S1145N			Q9BXX3	AN30A_HUMAN			39	3533	+			1120					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3434G>A		.	.	.	.	.	.	.	.	.	.	g	8.010	0.757276	0.15846	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.19105	2.17;2.17	2.78	-0.898	0.10550	.	.	.	.	.	T	0.19167	0.0460	L	0.43152	1.355	0.09310	N	1	P	0.41232	0.743	B	0.38056	0.264	T	0.08126	-1.0737	9	0.72032	D	0.01	.	14.0287	0.64601	0.0:0.2606:0.7394:0.0	.	1082	Q9BXX3	AN30A_HUMAN	N	1026;1145	ENSP00000354432:S1026N;ENSP00000363792:S1145N	ENSP00000354432:S1026N	S	+	2	0	ANKRD30A	37546790	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.242000	0.18087	-0.778000	0.04566	-0.482000	0.04802	AGT		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		10	28	0	0	0	1	0	10	28				
CCAR1	55749	broad.mit.edu	37	10	70520823	70520823	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70520823C>T	ENST00000265872.6	+	16	2099	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	CCAR1_ENST00000543719.1_Silent_p.S645S|CCAR1_ENST00000535016.1_Silent_p.S645S|MIR1254-1_ENST00000408257.1_RNA	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	660	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GATTAAAATCCCAGTTAATAG	0.363																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1978-1980)tcC>tcT		cell division cycle and apoptosis regulator 1							67.0	70.0	69.0					10																	70520823		2203	4299	6502	SO:0001819	synonymous_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70520823C>T	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1980C>T	10.37:g.70520823C>T						CCAR1_ENST00000535016.1_Silent_p.S645S|CCAR1_ENST00000543719.1_Silent_p.S645S	p.S660S	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			16	2099	+			660			SAP.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Silent	SNP	ENST00000265872.6	37	c.1980C>T	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	C	8.199	0.797649	0.16327	.	.	ENSG00000060339	ENST00000543706	.	.	.	5.43	-5.12	0.02893	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33420	-0.9869	4	.	.	.	-6.1966	2.4606	0.04540	0.1897:0.2428:0.0976:0.4698	.	.	.	.	S	30	.	.	P	+	1	0	CCAR1	70190829	0.081000	0.21417	0.742000	0.31022	0.926000	0.56050	-0.866000	0.04245	-1.583000	0.01638	-1.858000	0.00562	CCA		0.363	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		34	52	0	0	0	1	0	34	52				
RYR2	6262	broad.mit.edu	37	1	237798220	237798220	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237798220G>A	ENST00000366574.2	+	44	7037	c.6720G>A	c.(6718-6720)ctG>ctA	p.L2240L	RYR2_ENST00000542537.1_Silent_p.L2224L|RYR2_ENST00000360064.6_Silent_p.L2238L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2240	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACACCACTGGATGTGGCTG	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6718-6720)ctG>ctA		ryanodine receptor 2 (cardiac)							58.0	60.0	60.0					1																	237798220		1927	4141	6068	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237798220G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6720G>A	1.37:g.237798220G>A						RYR2_ENST00000360064.6_Silent_p.L2238L|RYR2_ENST00000542537.1_Silent_p.L2224L	p.L2240L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		44	7037	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2240			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6720G>A	CCDS55691.1																																																																																				0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	4	0	0	0	1	0	9	4				
PIWIL2	55124	broad.mit.edu	37	8	22173806	22173806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173806G>A	ENST00000454009.2	+	19	2766	c.2257G>A	c.(2257-2259)Ggc>Agc	p.G753S	PIWIL2_ENST00000356766.6_Missense_Mutation_p.G753S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCCAGTAGAGGCATGCGCTC	0.418																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2257-2259)Ggc>Agc		piwi-like RNA-mediated gene silencing 2							147.0	130.0	135.0					8																	22173806		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22173806G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2257G>A	8.37:g.22173806G>A	ENSP00000406956:p.Gly753Ser					PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753S	p.G753S	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	19	2405	+			753			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2257G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351359	0.61183	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15139	2.45;2.45;2.45	5.28	4.41	0.53225	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.287528	0.40144	N	0.001165	T	0.13628	0.0330	L	0.28400	0.85	0.37384	D	0.912153	B;P	0.37423	0.387;0.594	B;B	0.37943	0.179;0.261	T	0.17561	-1.0365	10	0.22109	T	0.4	-0.1065	13.4239	0.61013	0.078:0.0:0.922:0.0	.	753;753	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	753	ENSP00000349208:G753S;ENSP00000428267:G753S;ENSP00000406956:G753S	ENSP00000349208:G753S	G	+	1	0	PIWIL2	22229751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.016000	0.40971	1.345000	0.45676	0.655000	0.94253	GGC		0.418	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			10	26	0	0	0	1	0	10	26				
ARSD	414	broad.mit.edu	37	X	2827949	2827949	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2827949G>A	ENST00000381154.1	-	8	1282	c.1207C>T	c.(1207-1209)Ccg>Tcg	p.P403S		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	403					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCCGGCCGGGAGCACCCCC	0.627																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1207-1209)Ccg>Tcg		arylsulfatase D							35.0	34.0	34.0					X																	2827949		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2827949G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1207C>T	X.37:g.2827949G>A	ENSP00000370546:p.Pro403Ser						p.P403S	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			8	1282	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	403					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1207C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145085	0.21288	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.94232	-3.38;-3.38	2.98	2.1	0.27182	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.064479	0.64402	U	0.000007	D	0.92407	0.7590	M	0.74389	2.26	0.23909	N	0.996494	P	0.44429	0.835	P	0.46452	0.517	D	0.85690	0.1306	10	0.52906	T	0.07	.	6.8733	0.24133	0.2358:0.0:0.7642:0.0	.	403	P51689	ARSD_HUMAN	S	403;5	ENSP00000370546:P403S;ENSP00000409180:P5S	ENSP00000370546:P403S	P	-	1	0	ARSD	2837949	0.995000	0.38212	0.011000	0.14972	0.019000	0.09904	2.324000	0.43831	0.305000	0.22832	0.436000	0.28706	CCG		0.627	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			23	41	0	0	0	1	0	23	41				
SNORA71B	26776	broad.mit.edu	37	20	37053898	37053898	+	lincRNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:37053898G>A	ENST00000364546.1	-	0	81				SNORA71A_ENST00000364729.1_RNA					small nucleolar RNA, H/ACA box 71B																		TTCAAACACGGGGAAGCGCTT	0.498																																						ENST00000364546.1																			0																				146.0	134.0	138.0					20																	37053898		876	1991	2867			26776							g.chr20:37053898G>A	Y11166		20q11.23	2013-09-05	2006-04-05	2006-04-05	ENSG00000201416	ENSG00000235408		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10233	non-coding RNA	RNA, small nucleolar			"""RNA, U71B small nucleolar"""	RNU71B		9106664	Standard	NR_002910		Approved	U71b	uc002xik.2		OTTHUMG00000032446		20.37:g.37053898G>A														0	81	-									RNA	SNP	ENST00000364546.1	37																																																																																						0.498	SNORA71B-201	KNOWN	basic	snoRNA	lincRNA		NR_002910		31	70	0	0	0	1	0	31	70				
NEBL	10529	broad.mit.edu	37	10	21097456	21097456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:21097456C>T	ENST00000377122.4	-	26	3140	c.2744G>A	c.(2743-2745)aGa>aAa	p.R915K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	915	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCAGACGGTCTTGTTACCTC	0.413																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2743-2745)aGa>aAa		nebulette							112.0	104.0	107.0					10																	21097456		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21097456C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2744G>A	10.37:g.21097456C>T	ENSP00000366326:p.Arg915Lys					NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	p.R915K	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			26	3140	-			915			Linker.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.2744G>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.450607	0.26074	.	.	ENSG00000078114	ENST00000377122	T	0.04406	3.63	5.76	5.76	0.90799	.	0.146320	0.47852	D	0.000211	T	0.04588	0.0125	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27297	-1.0078	10	0.06625	T	0.88	.	13.8947	0.63764	0.0:0.9267:0.0:0.0733	.	915	O76041	NEBL_HUMAN	K	915	ENSP00000366326:R915K	ENSP00000366326:R915K	R	-	2	0	NEBL	21137462	1.000000	0.71417	0.700000	0.30305	0.818000	0.46254	2.180000	0.42537	2.749000	0.94314	0.551000	0.68910	AGA		0.413	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		31	51	0	0	0	1	0	31	51				
DDX6	1656	broad.mit.edu	37	11	118638972	118638972	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118638972G>A	ENST00000526070.2	-	5	818	c.458C>T	c.(457-459)cCc>cTc	p.P153L	DDX6_ENST00000534980.1_Missense_Mutation_p.P153L|DDX6_ENST00000264018.4_Missense_Mutation_p.P153L	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	153	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TTCAAGTAAGGGAATGAGGTA	0.403			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.(457-459)cCc>cTc		DEAD (Asp-Glu-Ala-Asp) box helicase 6							103.0	95.0	98.0					11																	118638972		1865	4098	5963	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118638972G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.458C>T	11.37:g.118638972G>A	ENSP00000433704:p.Pro153Leu					DDX6_ENST00000534980.1_Missense_Mutation_p.P153L|DDX6_ENST00000526070.2_Missense_Mutation_p.P153L	p.P153L	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	5	763	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	153			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.458C>T	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869634	0.91587	.	.	ENSG00000110367	ENST00000264018;ENST00000545741;ENST00000534980;ENST00000526070	T;T;T	0.20332	2.08;2.08;2.08	5.63	4.72	0.59763	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71869	-0.4462	10	0.87932	D	0	.	15.9334	0.79683	0.0:0.0:0.8636:0.1364	.	153	P26196	DDX6_HUMAN	L	153	ENSP00000264018:P153L;ENSP00000442266:P153L;ENSP00000433704:P153L	ENSP00000264018:P153L	P	-	2	0	DDX6	118144182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.515000	0.48885	0.655000	0.94253	CCC		0.403	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		10	21	0	0	0	1	0	10	21				
NPPA	4878	broad.mit.edu	37	1	11907258	11907258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11907258G>A	ENST00000376480.3	-	2	460	c.362C>T	c.(361-363)gCc>gTc	p.A121V	NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A71V	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	121					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCGAGGGGCAGTGAGCAG	0.642																																						ENST00000376480.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(361-363)gCc>gTc		natriuretic peptide A							100.0	113.0	109.0					1																	11907258		2203	4300	6503	SO:0001583	missense	4878				cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity	g.chr1:11907258G>A	BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.362C>T	1.37:g.11907258G>A	ENSP00000365663:p.Ala121Val					NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A71V|NPPA-AS1_ENST00000446542.1_RNA	p.A121V	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	460	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	121					Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	c.362C>T	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299036	0.40694	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.45668	0.89	5.69	3.67	0.42095	.	0.440966	0.23635	N	0.046096	T	0.35799	0.0944	L	0.43923	1.385	0.22961	N	0.9985	B	0.15141	0.012	B	0.17433	0.018	T	0.36261	-0.9755	10	0.62326	D	0.03	-16.2803	11.8376	0.52336	0.0:0.3563:0.6437:0.0	.	121	P01160	ANF_HUMAN	V	121;71	ENSP00000365663:A121V	ENSP00000365659:A71V	A	-	2	0	NPPA	11829845	0.989000	0.36119	0.994000	0.49952	0.603000	0.37013	2.013000	0.40942	1.369000	0.46134	0.561000	0.74099	GCC		0.642	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1	NM_006172		73	88	0	0	0	1	0	73	88				
IRAK1	3654	broad.mit.edu	37	X	153282473	153282473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153282473G>A	ENST00000369980.3	-	8	1122	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	IRAK1_ENST00000429936.2_Missense_Mutation_p.L345F|IRAK1_ENST00000393682.1_Missense_Mutation_p.L345F|IRAK1_ENST00000369974.2_Missense_Mutation_p.L319F|IRAK1_ENST00000393687.2_Missense_Mutation_p.L319F|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACCCAGAAGGATGTCCAGT	0.612																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(955-957)Ctt>Ttt		interleukin-1 receptor-associated kinase 1							102.0	99.0	100.0					X																	153282473		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153282473G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.955C>T	X.37:g.153282473G>A	ENSP00000358997:p.Leu319Phe					IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.L319F|IRAK1_ENST00000393682.1_Missense_Mutation_p.L345F|IRAK1_ENST00000429936.2_Missense_Mutation_p.L345F|IRAK1_ENST00000369974.2_Missense_Mutation_p.L319F	p.L319F	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			8	1122	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		319			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.955C>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.75|15.75	2.926849|2.926849	0.52759|0.52759	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	T;T;T;T;T|.	0.65178|.	-0.14;-0.14;-0.14;-0.14;-0.14|.	4.92|4.92	3.84|3.84	0.44239|0.44239	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.44483|.	D|.	0.000450|.	T|T	0.60064|0.60064	0.2240|0.2240	M|M	0.83603|0.83603	2.65|2.65	0.09310|0.09310	N|N	0.999993|0.999993	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.993;0.988|.	T|T	0.54255|0.54255	-0.8321|-0.8321	10|5	0.62326|.	D|.	0.03|.	-15.8538|-15.8538	8.167|8.167	0.31233|0.31233	0.1089:0.1639:0.7272:0.0|0.1089:0.1639:0.7272:0.0	.|.	319;319;319|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	F|L	319;319;345;319;345|89	ENSP00000358997:L319F;ENSP00000358991:L319F;ENSP00000377287:L345F;ENSP00000377291:L319F;ENSP00000392662:L345F|.	ENSP00000358991:L319F|.	L|P	-|-	1|2	0|0	IRAK1|IRAK1	152935667|152935667	0.701000|0.701000	0.27806|0.27806	0.878000|0.878000	0.34440|0.34440	0.941000|0.941000	0.58515|0.58515	0.987000|0.987000	0.29603|0.29603	2.032000|2.032000	0.59987|0.59987	0.525000|0.525000	0.51046|0.51046	CTT|CCT		0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			58	119	0	0	0	1	0	58	119				
RBM42	79171	broad.mit.edu	37	19	36125269	36125269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125269G>A	ENST00000262633.4	+	8	1234	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.D323N|RBM42_ENST00000589559.1_Missense_Mutation_p.D348N|RBM42_ENST00000589871.1_Missense_Mutation_p.D355N|RBM42_ENST00000360475.4_Missense_Mutation_p.D348N|RBM42_ENST00000588161.1_Missense_Mutation_p.D347N	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	377	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGGAGTGGGATGCAGGTAA	0.612																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1129-1131)Gat>Aat		RNA binding motif protein 42							35.0	33.0	34.0					19																	36125269		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36125269G>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1129G>A	19.37:g.36125269G>A	ENSP00000262633:p.Asp377Asn					RBM42_ENST00000592202.1_Missense_Mutation_p.D323N|RBM42_ENST00000588161.1_Missense_Mutation_p.D347N|RBM42_ENST00000589871.1_Missense_Mutation_p.D355N|RBM42_ENST00000360475.4_Missense_Mutation_p.D348N|RBM42_ENST00000589559.1_Missense_Mutation_p.D348N|RBM42_ENST00000586618.1_Intron	p.D377N	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1234	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		377			Necessary for interaction with HNRNPK (By similarity).		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.1129G>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555872	0.86231	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.35973	1.28;1.28	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);	0.048040	0.85682	D	0.000000	T	0.52058	0.1711	L	0.38175	1.15	0.58432	D	0.999999	P;D;D;D	0.71674	0.925;0.982;0.998;0.97	P;P;D;P	0.72338	0.655;0.873;0.977;0.749	T	0.44682	-0.9312	10	0.54805	T	0.06	-14.7431	18.1573	0.89696	0.0:0.0:1.0:0.0	.	343;348;347;377	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	N	377;348	ENSP00000262633:D377N;ENSP00000353663:D348N	ENSP00000262633:D377N	D	+	1	0	RBM42	40817109	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.033000	0.93741	2.894000	0.99253	0.655000	0.94253	GAT		0.612	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		15	17	0	0	0	1	0	15	17				
CNKSR2	22866	broad.mit.edu	37	X	21609287	21609287	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21609287C>T	ENST00000379510.3	+	15	1841	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	CNKSR2_ENST00000279451.4_Missense_Mutation_p.S602F|CNKSR2_ENST00000425654.2_Missense_Mutation_p.S572F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S553F	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	602	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGGATGCATCCCTTTATTGG	0.353																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1714-1716)tCc>tTc		connector enhancer of kinase suppressor of Ras 2							99.0	96.0	97.0					X																	21609287		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609287C>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1805C>T	X.37:g.21609287C>T	ENSP00000368824:p.Ser602Phe					CNKSR2_ENST00000379510.3_Missense_Mutation_p.S602F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S553F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S602F	p.S572F	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			14	2195	+			602			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1715C>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877775	0.72294	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.29	5.29	0.74685	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.209203	0.52532	D	0.000073	D	0.83788	0.5330	M	0.68952	2.095	0.48975	D	0.999731	D;D;D;D	0.67145	0.99;0.99;0.996;0.994	P;D;D;D	0.65773	0.838;0.928;0.914;0.938	T	0.81671	-0.0827	10	0.27082	T	0.32	-16.3936	18.1345	0.89614	0.0:1.0:0.0:0.0	.	572;553;194;602	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	F	572;553;602;602	ENSP00000397906:S572F;ENSP00000444633:S553F;ENSP00000279451:S602F;ENSP00000368824:S602F	ENSP00000279451:S602F	S	+	2	0	CNKSR2	21519208	1.000000	0.71417	0.932000	0.37286	0.924000	0.55760	4.763000	0.62257	2.219000	0.72066	0.523000	0.50628	TCC		0.353	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		50	68	0	0	0	1	0	50	68				
DUSP27	92235	broad.mit.edu	37	1	167095285	167095285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095285G>A	ENST00000361200.2	+	6	1083	c.917G>A	c.(916-918)gGg>gAg	p.G306E	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306E|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCATGCTCGGGGCCAGAGTG	0.657																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(916-918)gGg>gAg		dual specificity phosphatase 27 (putative)							36.0	37.0	37.0					1																	167095285		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095285G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.917G>A	1.37:g.167095285G>A	ENSP00000354483:p.Gly306Glu					DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306E|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306E	p.G306E			Q5VZP5	DUS27_HUMAN			6	1083	+			306					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.917G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441018	0.43326	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03212	4.01;4.01;4.01	4.6	0.576	0.17380	.	21.334100	0.00166	N	0.000000	T	0.06508	0.0167	M	0.69823	2.125	0.37318	D	0.909431	D	0.69078	0.997	P	0.59643	0.861	T	0.22173	-1.0224	10	0.66056	D	0.02	-28.9137	6.4476	0.21885	0.222:0.1315:0.6465:0.0	.	306	Q5VZP5	DUS27_HUMAN	E	306	ENSP00000354483:G306E;ENSP00000271385:G306E;ENSP00000404874:G306E	ENSP00000271385:G306E	G	+	2	0	DUSP27	165361909	1.000000	0.71417	0.006000	0.13384	0.186000	0.23388	3.205000	0.51090	0.017000	0.15025	0.551000	0.68910	GGG		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		6	15	0	0	0	1	0	6	15				
DOCK8	81704	broad.mit.edu	37	9	406991	406991	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:406991C>T	ENST00000453981.1	+	28	3564	c.3452C>T	c.(3451-3453)tCc>tTc	p.S1151F	DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F|DOCK8_ENST00000432829.2_Missense_Mutation_p.S1083F			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1151					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GATCTGACTTCCGAGTACCGC	0.522																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3247-3249)tCc>tTc		dedicator of cytokinesis 8							103.0	99.0	100.0					9																	406991		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:406991C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3452C>T	9.37:g.406991C>T	ENSP00000408464:p.Ser1151Phe					DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F	p.S1083F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	28	3564	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1151					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3248C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476711	0.44044	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.62	5.62	0.85841	.	0.370945	0.34245	N	0.004135	T	0.26919	0.0659	L	0.29908	0.895	0.19300	N	0.999974	B;B;B	0.20164	0.012;0.042;0.012	B;B;B	0.29716	0.066;0.106;0.066	T	0.23404	-1.0189	10	0.56958	D	0.05	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	1051;618;1151	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	F	1151;1119;1083;1051;618	ENSP00000408464:S1151F;ENSP00000394888:S1083F;ENSP00000419438:S1051F;ENSP00000371766:S618F	ENSP00000287364:S1119F	S	+	2	0	DOCK8	396991	0.075000	0.21258	0.068000	0.19968	0.816000	0.46133	3.722000	0.54948	2.810000	0.96702	0.650000	0.86243	TCC		0.522	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		105	27	0	0	0	1	0	105	27				
CXADRP3	440224	broad.mit.edu	37	18	14478237	14478237	+	lincRNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14478237G>A	ENST00000581457.1	-	0	1671					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		ACTTAGATTAGGGGCAGCTAC	0.488																																						ENST00000581457.1																			0																																																			440224							g.chr18:14478237G>A			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478237G>A								NR_024076.1						0	1671	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.488	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		14	28	0	0	0	1	0	14	28				
MYH4	4622	broad.mit.edu	37	17	10354709	10354709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10354709C>T	ENST00000255381.2	-	28	3909	c.3799G>A	c.(3799-3801)Gaa>Aaa	p.E1267K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1267					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTCTTCTTCCTTTGTTTTT	0.423																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3799-3801)Gaa>Aaa		myosin, heavy chain 4, skeletal muscle							261.0	220.0	234.0					17																	10354709		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354709C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3799G>A	17.37:g.10354709C>T	ENSP00000255381:p.Glu1267Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1267K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			28	3909	-			1267						Missense_Mutation	SNP	ENST00000255381.2	37	c.3799G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718658	0.48622	.	.	ENSG00000141048	ENST00000255381	T	0.77358	-1.09	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.37857	U	0.001914	T	0.75339	0.3836	L	0.43152	1.355	0.35587	D	0.806742	B	0.19817	0.039	B	0.29440	0.102	T	0.73104	-0.4088	10	0.31617	T	0.26	.	20.0359	0.97557	0.0:1.0:0.0:0.0	.	1267	Q9Y623	MYH4_HUMAN	K	1267	ENSP00000255381:E1267K	ENSP00000255381:E1267K	E	-	1	0	MYH4	10295434	0.085000	0.21516	1.000000	0.80357	0.989000	0.77384	1.240000	0.32731	2.805000	0.96524	0.655000	0.94253	GAA		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		27	59	0	0	0	1	0	27	59				
COL1A2	1278	broad.mit.edu	37	7	94053708	94053708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:94053708C>T	ENST00000297268.6	+	41	3097	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	876					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTGGGTCTCCCTGGCTCGAG	0.473										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2626-2628)Cct>Tct		collagen, type I, alpha 2	Collagenase(DB00048)						162.0	151.0	155.0					7																	94053708		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94053708C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2626C>T	7.37:g.94053708C>T	ENSP00000297268:p.Pro876Ser	HNSCC(75;0.22)					p.P876S	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		41	3097	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		876					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2626C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633715	0.67130	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96587	-4.06	5.72	5.72	0.89469	.	0.055092	0.85682	D	0.000000	D	0.96237	0.8773	M	0.77406	2.37	0.80722	D	1	B	0.27559	0.181	B	0.28385	0.089	D	0.94211	0.7459	10	0.72032	D	0.01	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	876	P08123	CO1A2_HUMAN	S	876;877	ENSP00000297268:P876S	ENSP00000297268:P876S	P	+	1	0	COL1A2	93891644	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.878000	0.69682	2.873000	0.98535	0.563000	0.77884	CCT		0.473	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		29	98	0	0	0	1	0	29	98				
EXOC3L2	90332	broad.mit.edu	37	19	45716410	45716410	+	Missense_Mutation	SNP	G	G	A	rs376415591	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45716410G>A	ENST00000252482.3	-	9	1174	c.1147C>T	c.(1147-1149)Ctc>Ttc	p.L383F	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.L383F|AC006126.3_ENST00000591569.1_Intron			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	383					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		AGCCGGGAGAGGGGGAGGCGG	0.701													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13859	0.0		0.0	False		,,,				2504	0.0					ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1147-1149)Ctc>Ttc		exocyst complex component 3-like 2							12.0	14.0	13.0					19																	45716410		2186	4286	6472	SO:0001583	missense	90332							g.chr19:45716410G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.1147C>T	19.37:g.45716410G>A	ENSP00000252482:p.Leu383Phe					EXOC3L2_ENST00000252482.3_Missense_Mutation_p.L383F|AC006126.3_ENST00000591569.1_Intron	p.L383F	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	10	1187	-		all_neural(266;0.224)|Ovarian(192;0.231)	383					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.1147C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502178	0.26949	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.13778	2.56;2.56	3.88	-0.158	0.13383	.	0.786233	0.10189	U	0.704886	T	0.08447	0.0210	N	0.24115	0.695	0.09310	N	1	B	0.32968	0.392	B	0.31869	0.137	T	0.34030	-0.9845	10	0.45353	T	0.12	.	6.2782	0.20993	0.0:0.4104:0.3965:0.1931	.	383	Q2M3D2	EX3L2_HUMAN	F	383	ENSP00000252482:L383F;ENSP00000400713:L383F	ENSP00000252482:L383F	L	-	1	0	EXOC3L2	50408250	0.643000	0.27269	0.104000	0.21259	0.648000	0.38561	-0.074000	0.11450	0.102000	0.17638	0.305000	0.20034	CTC		0.701	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		4	11	0	0	0	1	0	4	11				
MTTP	4547	broad.mit.edu	37	4	100530113	100530113	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:100530113T>C	ENST00000265517.5	+	12	1951	c.1748T>C	c.(1747-1749)cTa>cCa	p.L583P	MTTP_ENST00000511045.1_Missense_Mutation_p.L610P|MTTP_ENST00000457717.1_Missense_Mutation_p.L583P|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	583	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAAGACATCCTACGTTTTGAA	0.403																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(1747-1749)cTa>cCa		microsomal triglyceride transfer protein	Hesperetin(DB01094)						126.0	120.0	122.0					4																	100530113		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100530113T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1748T>C	4.37:g.100530113T>C	ENSP00000265517:p.Leu583Pro					MTTP_ENST00000511045.1_Missense_Mutation_p.L610P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L583P	p.L583P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	13	2004	+			583			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1748T>C	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291038	0.80914	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.71341	-0.56;-0.56;-0.56	4.99	4.99	0.66335	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.137481	0.50627	D	0.000117	D	0.82296	0.5006	M	0.77616	2.38	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.68765	0.949;0.96	T	0.81013	-0.1125	10	0.25751	T	0.34	-23.1665	14.9778	0.71289	0.0:0.0:0.0:1.0	.	610;583	E9PBP6;P55157	.;MTP_HUMAN	P	610;583;583	ENSP00000427679:L610P;ENSP00000400821:L583P;ENSP00000265517:L583P	ENSP00000265517:L583P	L	+	2	0	MTTP	100749136	1.000000	0.71417	0.473000	0.27253	0.907000	0.53573	7.566000	0.82347	1.994000	0.58287	0.523000	0.50628	CTA		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			24	73	0	0	0	1	0	24	73				
CLVS1	157807	broad.mit.edu	37	8	62212563	62212563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212563G>A	ENST00000519846.1	+	3	649	c.177G>A	c.(175-177)atG>atA	p.M59I	CLVS1_ENST00000325897.4_Missense_Mutation_p.M59I|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	59					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGGGACATGATCATCACCA	0.468																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(175-177)atG>atA		clavesin 1							128.0	109.0	115.0					8																	62212563		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212563G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.177G>A	8.37:g.62212563G>A	ENSP00000428402:p.Met59Ile					CLVS1_ENST00000325897.4_Missense_Mutation_p.M59I|CLVS1_ENST00000518592.1_Intron	p.M59I			Q8IUQ0	CLVS1_HUMAN			3	649	+			59					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.177G>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201367	0.79015	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.85484	-1.99;-1.99	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.037197	0.85682	N	0.000000	D	0.87450	0.6180	L	0.53249	1.67	0.80722	D	1	P;B;B	0.48764	0.915;0.168;0.216	P;B;B	0.48952	0.596;0.27;0.135	D	0.87123	0.2192	10	0.51188	T	0.08	0.0286	20.0313	0.97540	0.0:0.0:1.0:0.0	.	59;59;59	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	I	59	ENSP00000428402:M59I;ENSP00000325506:M59I	ENSP00000325506:M59I	M	+	3	0	CLVS1	62375117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	ATG		0.468	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		21	48	0	0	0	1	0	21	48				
RFPL1	5988	broad.mit.edu	37	22	29834826	29834826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29834826G>A	ENST00000354373.2	+	1	255	c.46G>A	c.(46-48)Gga>Aga	p.G16R	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	16							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCACCTCACGGAAATTTTCT	0.463																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(46-48)Gga>Aga		ret finger protein-like 1							113.0	108.0	110.0					22																	29834826		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834826G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.46G>A	22.37:g.29834826G>A	ENSP00000346342:p.Gly16Arg					RFPL1S_ENST00000461286.2_RNA	p.G16R	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	255	+			16					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.46G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	1.762	-0.486556	0.04352	.	.	ENSG00000128250	ENST00000354373	T	0.53206	0.63	1.93	-0.801	0.10893	.	.	.	.	.	T	0.24198	0.0586	L	0.38175	1.15	0.09310	N	1	P	0.43094	0.799	B	0.25140	0.058	T	0.13415	-1.0510	9	0.44086	T	0.13	.	2.7751	0.05345	0.1861:0.0:0.5429:0.271	.	16	O75677	RFPL1_HUMAN	R	16	ENSP00000346342:G16R	ENSP00000346342:G16R	G	+	1	0	RFPL1	28164826	0.007000	0.16637	0.002000	0.10522	0.001000	0.01503	0.255000	0.18333	-0.319000	0.08652	-0.474000	0.04947	GGA		0.463	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		44	74	0	0	0	1	0	44	74				
CSPG4	1464	broad.mit.edu	37	15	75979625	75979625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75979625G>A	ENST00000308508.5	-	3	3873	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1261	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCCAGCTGGTCCCTTCTG	0.612																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3781-3783)Cag>Tag		chondroitin sulfate proteoglycan 4							67.0	76.0	73.0					15																	75979625		2178	4247	6425	SO:0001587	stop_gained	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75979625G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3781C>T	15.37:g.75979625G>A	ENSP00000312506:p.Gln1261*						p.Q1261*	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	3873	-			1261			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Nonsense_Mutation	SNP	ENST00000308508.5	37	c.3781C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	41	8.858844	0.98980	.	.	ENSG00000173546	ENST00000308508	.	.	.	5.39	4.47	0.54385	.	0.541459	0.17479	N	0.172798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.5096	0.39069	0.0765:0.2479:0.6755:0.0	.	.	.	.	X	1261	.	ENSP00000312506:Q1261X	Q	-	1	0	CSPG4	73766680	0.098000	0.21812	0.861000	0.33841	0.755000	0.42902	0.298000	0.19120	2.530000	0.85305	0.555000	0.69702	CAG		0.612	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		63	69	0	0	0	1	0	63	69				
FAT3	120114	broad.mit.edu	37	11	92086231	92086231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92086231G>A	ENST00000298047.6	+	1	970	c.953G>A	c.(952-954)gGa>gAa	p.G318E	FAT3_ENST00000525166.1_Missense_Mutation_p.G168E|FAT3_ENST00000409404.2_Missense_Mutation_p.G318E|FAT3_ENST00000541502.1_Missense_Mutation_p.G318E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTAAGGAAGGAAAGTGGTTG	0.448										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(952-954)gGa>gAa		FAT atypical cadherin 3							78.0	73.0	75.0					11																	92086231		1957	4153	6110	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086231G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.953G>A	11.37:g.92086231G>A	ENSP00000298047:p.Gly318Glu	TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Missense_Mutation_p.G318E|FAT3_ENST00000525166.1_Missense_Mutation_p.G168E|FAT3_ENST00000409404.2_Missense_Mutation_p.G318E	p.G318E			Q8TDW7	FAT3_HUMAN			1	970	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	318			Cadherin 3.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.953G>A		.	.	.	.	.	.	.	.	.	.	G	9.117	1.008062	0.19199	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.73897	-0.78;-0.79;0.54;-0.79	5.2	5.2	0.72013	.	.	.	.	.	T	0.65943	0.2740	L	0.41356	1.27	0.30160	N	0.802256	B	0.22146	0.065	B	0.17098	0.017	T	0.60464	-0.7258	9	0.29301	T	0.29	.	13.0962	0.59192	0.0:0.0:0.8397:0.1603	.	318	Q8TDW7-3	.	E	318;318;318;168	ENSP00000298047:G318E;ENSP00000387040:G318E;ENSP00000443786:G318E;ENSP00000432586:G168E	ENSP00000298047:G318E	G	+	2	0	FAT3	91725879	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.574000	0.46016	2.568000	0.86640	0.557000	0.71058	GGA		0.448	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	17	0	0	0	1	0	15	17				
PCDHA6	56142	broad.mit.edu	37	5	140209543	140209543	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140209543C>T	ENST00000529310.1	+	1	1981	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCGTTTCGCGTGGGGCT	0.652																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1867-1869)Cgc>Tgc									71.0	76.0	75.0					5																	140209543		2203	4300	6503	SO:0001583	missense	56142							g.chr5:140209543C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1867C>T	5.37:g.140209543C>T	ENSP00000433378:p.Arg623Cys					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R623C	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1981	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1867C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	6.353	0.433214	0.12045	.	.	ENSG00000081842	ENST00000529310	T	0.55930	0.49	3.98	2.14	0.27477	Cadherin (4);Cadherin-like (1);	0.000000	0.32533	U	0.005979	T	0.52108	0.1714	M	0.93016	3.37	0.09310	N	0.999999	P;P	0.43094	0.761;0.799	B;B	0.33254	0.14;0.16	T	0.57329	-0.7830	10	0.72032	D	0.01	.	5.5045	0.16846	0.1593:0.6716:0.0:0.1691	.	623;623	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	C	623	ENSP00000433378:R623C	ENSP00000433378:R623C	R	+	1	0	PCDHA6	140189727	0.000000	0.05858	0.890000	0.34922	0.074000	0.17049	0.027000	0.13621	0.433000	0.26313	0.306000	0.20318	CGC		0.652	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		40	56	0	0	0	1	0	40	56				
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:122634365C>A	ENST00000357599.3	-	14	2296	c.1910G>T	c.(1909-1911)cGa>cTa	p.R637L	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691L|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R637L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	637					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ATCACAGGATCGAGCTCGACA	0.607																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1909-1911)cGa>cTa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							71.0	68.0	69.0					3																	122634365		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634365C>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1910G>T	3.37:g.122634365C>A	ENSP00000350215:p.Arg637Leu					SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691L	p.R637L			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2213	-			637					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1910G>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104360	0.94245	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.99074	4.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.84317	0.0514	10	0.87932	D	0	.	17.2003	0.86904	0.0:1.0:0.0:0.0	.	579;637;637	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	L	637;637;579;691;637	ENSP00000350215:R637L;ENSP00000195173:R637L;ENSP00000389588:R691L;ENSP00000377208:R637L	ENSP00000195173:R637L	R	-	2	0	SEMA5B	124117055	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.596000	0.82721	2.520000	0.84964	0.561000	0.74099	CGA		0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		30	35	1	0	3.73148e-12	1	3.77784e-12	30	35				
MUC5B	727897	broad.mit.edu	37	11	1248001	1248001	+	Missense_Mutation	SNP	G	G	C	rs199733278		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1248001G>C	ENST00000529681.1	+	4	414	c.356G>C	c.(355-357)cGc>cCc	p.R119P	MUC5B_ENST00000447027.1_Missense_Mutation_p.R119P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	119	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCCAGCTACGCCGAGGCCTA	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(355-357)cGc>cCc		mucin 5B, oligomeric mucus/gel-forming							35.0	37.0	37.0					11																	1248001		2111	4231	6342	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1248001G>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.356G>C	11.37:g.1248001G>C	ENSP00000436812:p.Arg119Pro					MUC5B_ENST00000529681.1_Missense_Mutation_p.R119P	p.R119P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	4	414	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	119			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.356G>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.047	-0.196167	0.06259	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.60672	0.17;0.17	3.68	3.68	0.42216	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.79441	0.4446	M	0.92833	3.35	0.21897	N	0.99948	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.988;0.997;0.997	T	0.68454	-0.5404	9	0.87932	D	0	.	9.4525	0.38734	0.0985:0.0:0.9015:0.0	.	119;775;119	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	P	119;119;119;152	ENSP00000436812:R119P;ENSP00000415793:R119P	ENSP00000343037:R119P	R	+	2	0	MUC5B	1204577	1.000000	0.71417	0.111000	0.21465	0.052000	0.14988	4.818000	0.62657	1.896000	0.54893	0.561000	0.74099	CGC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	26	0	0	0	1	0	6	26				
ZBTB45	84878	broad.mit.edu	37	19	59028822	59028822	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028822C>T	ENST00000594051.1	-	2	699	c.219G>A	c.(217-219)ccG>ccA	p.P73P	ZBTB45_ENST00000354590.3_Silent_p.P73P|ZBTB45_ENST00000600990.1_Silent_p.P73P			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	73	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGGGCACCACCGGAGGCACAC	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(217-219)ccG>ccA		zinc finger and BTB domain containing 45							46.0	45.0	46.0					19																	59028822		2203	4300	6503	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028822C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.219G>A	19.37:g.59028822C>T			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Silent_p.P73P|ZBTB45_ENST00000600990.1_Silent_p.P73P	p.P73P			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	699	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	73			BTB.			Silent	SNP	ENST00000594051.1	37	c.219G>A	CCDS12984.1																																																																																				0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		27	41	0	0	0	1	0	27	41				
HAUS7	55559	broad.mit.edu	37	X	152722630	152722630	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152722630G>A	ENST00000370211.4	-	5	484	c.441C>T	c.(439-441)atC>atT	p.I147I	HAUS7_ENST00000370212.3_Silent_p.I147I|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000421080.2_Silent_p.I8I|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR	NM_017518.7	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	147					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	thioesterase binding (GO:0031996)			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TCAGGCTCCGGATGGTATCGA	0.572																																						ENST00000421080.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						c.(22-24)atC>atT		HAUS augmin-like complex, subunit 7							160.0	107.0	125.0					X																	152722630		2203	4300	6503	SO:0001819	synonymous_variant	55559				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	g.chrX:152722630G>A	AF267739	CCDS35438.1	Xq28	2011-10-24	2009-04-20	2009-04-20		ENSG00000213397		"""HAUS augmin-like complex subunits"""	32979	protein-coding gene	gene with protein product	"""UCH37 interacting protein 1"", ""26S proteasome-associated UCH interacting protein 1"""	300540	"""UCHL5 interacting protein"""	UCHL5IP		11163772, 16395595, 19427217	Standard	NM_017518		Approved	UIP1	uc004fho.2	Q99871		ENST00000370211.4:c.441C>T	X.37:g.152722630G>A						HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.I147I|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_Silent_p.I147I|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Silent_p.I137I	p.I8I			Q99871	HAUS7_HUMAN			7	1190	-			147					B4DUH6|D3DWT9|Q96HS8|Q9NP54|Q9UFH9	Silent	SNP	ENST00000370211.4	37	c.24C>T	CCDS35438.1																																																																																				0.572	HAUS7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060963.2	NM_017518		26	38	0	0	0	1	0	26	38				
AXIN2	8313	broad.mit.edu	37	17	63533090	63533090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:63533090C>A	ENST00000307078.5	-	7	2117	c.1804G>T	c.(1804-1806)Gga>Tga	p.G602*	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	602				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCCAGCTCCGCCGGGGGCC	0.692									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1804-1806)Gga>Tga		axin 2							39.0	41.0	40.0					17																	63533090		2202	4297	6499	SO:0001587	stop_gained	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533090C>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1804G>T	17.37:g.63533090C>A	ENSP00000302625:p.Gly602*					AXIN2_ENST00000375702.5_Intron	p.G602*	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			7	2117	-			602	Missing (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Nonsense_Mutation	SNP	ENST00000307078.5	37	c.1804G>T	CCDS11662.1	.	.	.	.	.	.	.	.	.	.	C	41	8.764560	0.98945	.	.	ENSG00000168646	ENST00000307078	.	.	.	4.97	4.0	0.46444	.	0.463962	0.23565	N	0.046806	.	.	.	.	.	.	0.21256	N	0.999747	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.6476	7.3512	0.26691	0.0:0.6817:0.2245:0.0939	.	.	.	.	X	602	.	ENSP00000302625:G602X	G	-	1	0	AXIN2	60963552	0.015000	0.18098	0.023000	0.16930	0.835000	0.47333	0.817000	0.27281	1.060000	0.40578	0.462000	0.41574	GGA		0.692	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445900.1	NM_004655		24	37	1	0	3.5997e-14	1	3.65439e-14	24	37				
ADCY8	114	broad.mit.edu	37	8	131949383	131949383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:131949383C>T	ENST00000286355.5	-	5	3509	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.E473K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	473					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCGGGGCTCAGGAAGTCCA	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1417-1419)Gag>Aag		adenylate cyclase 8 (brain)							109.0	100.0	103.0					8																	131949383		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131949383C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1417G>A	8.37:g.131949383C>T	ENSP00000286355:p.Glu473Lys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.E473K|RP11-737F9.1_ENST00000523318.1_RNA	p.E473K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		5	3509	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		473						Missense_Mutation	SNP	ENST00000286355.5	37	c.1417G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434138	0.96150	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80909	-1.43;-1.43;-1.43	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86598	0.5971	L	0.55481	1.735	0.53688	D	0.999974	D;D	0.64830	0.989;0.994	D;D	0.71184	0.972;0.955	T	0.82022	-0.0663	10	0.16896	T	0.51	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	473;473	E7EVL1;P40145	.;ADCY8_HUMAN	K	473;473;88	ENSP00000286355:E473K;ENSP00000367161:E473K;ENSP00000428010:E88K	ENSP00000286355:E473K	E	-	1	0	ADCY8	132018565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.794000	0.85869	2.657000	0.90304	0.655000	0.94253	GAG		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			25	40	0	0	0	1	0	25	40				
APBA2	321	broad.mit.edu	37	15	29393813	29393813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393813G>A	ENST00000558402.1	+	11	1949	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	APBA2_ENST00000558330.1_Missense_Mutation_p.M438I|APBA2_ENST00000561069.1_Missense_Mutation_p.M450I|APBA2_ENST00000411764.1_Missense_Mutation_p.M438I|APBA2_ENST00000558259.1_Missense_Mutation_p.M450I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	450	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AAACCATGATGGACCACGCCT	0.577																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1348-1350)atG>atA		amyloid beta (A4) precursor protein-binding, family A, member 2							96.0	67.0	77.0					15																	29393813		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393813G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1350G>A	15.37:g.29393813G>A	ENSP00000453293:p.Met450Ile					APBA2_ENST00000411764.1_Missense_Mutation_p.M438I|APBA2_ENST00000558330.1_Missense_Mutation_p.M438I|APBA2_ENST00000561069.1_Missense_Mutation_p.M450I|APBA2_ENST00000558259.1_Missense_Mutation_p.M450I	p.M450I			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1949	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	450			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1350G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717749	0.89205	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.20738	2.05	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.047020	0.85682	D	0.000000	T	0.43809	0.1264	M	0.67625	2.065	0.80722	D	1	D;D;D;B	0.64830	0.973;0.992;0.994;0.417	P;D;P;P	0.67725	0.882;0.953;0.869;0.475	T	0.42783	-0.9431	10	0.62326	D	0.03	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	438;142;438;450	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	I	438;450;142	ENSP00000409312:M438I	ENSP00000219865:M450I	M	+	3	0	APBA2	27181105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	ATG		0.577	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		15	10	0	0	0	1	0	15	10				
TEX11	56159	broad.mit.edu	37	X	69871334	69871334	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69871334G>A	ENST00000395889.2	-	18	1649	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TEX11_ENST00000344304.3_Silent_p.F498F|TEX11_ENST00000374333.2_Silent_p.F483F|TEX11_ENST00000374320.2_Silent_p.F173F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	498					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTGCAATCTTGAATATATAAA	0.348																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(1492-1494)ttC>ttT		testis expressed 11							44.0	42.0	43.0					X																	69871334		2203	4300	6503	SO:0001819	synonymous_variant	56159						protein binding	g.chrX:69871334G>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1494C>T	X.37:g.69871334G>A						TEX11_ENST00000344304.3_Silent_p.F498F|TEX11_ENST00000374320.2_Silent_p.F173F|TEX11_ENST00000374333.2_Silent_p.F483F	p.F498F	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			18	1649	-	Renal(35;0.156)		498					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Silent	SNP	ENST00000395889.2	37	c.1494C>T	CCDS35323.1																																																																																				0.348	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			23	33	0	0	0	1	0	23	33				
DLST	1743	broad.mit.edu	37	14	75348710	75348710	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348710C>T	ENST00000334220.4	+	1	115	c.54C>T	c.(52-54)gcC>gcT	p.A18A	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_5'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CGCTCTCCGCCTTCCAGAAGG	0.731																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(52-54)gcC>gcT		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							13.0	11.0	11.0					14																	75348710		2189	4264	6453	SO:0001819	synonymous_variant	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75348710C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.54C>T	14.37:g.75348710C>T						DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	p.A18A	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	1	115	+			18					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	c.54C>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517853	0.44763	.	.	ENSG00000119689	ENST00000554806	T	0.11169	2.8	4.56	1.65	0.23941	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01972	-1.1237	6	0.51188	T	0.08	-42.0772	6.5839	0.22610	0.0:0.5844:0.0:0.4156	.	.	.	.	F	18	ENSP00000451957:L18F	ENSP00000238671:L18F	L	+	1	0	DLST	74418463	0.987000	0.35691	0.997000	0.53966	0.819000	0.46315	0.221000	0.17680	0.140000	0.18849	0.591000	0.81541	CTT		0.731	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			7	6	0	0	0	1	0	7	6				
MIR518A2	574491	broad.mit.edu	37	19	54244633	54244633	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54244633C>A	ENST00000384966.1	+	0	87				MIR520H_ENST00000385126.1_RNA|MIR517C_ENST00000385103.1_RNA	NR_030213.1				microRNA 518a-2																		ATCGTGCATCCTTTTAGAGTG	0.413																																						ENST00000385103.1																			0																				139.0	123.0	128.0					19																	54244633		1568	3582	5150			574492							g.chr19:54244633C>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54244633C>A								NR_030214.1						0	67	+									RNA	SNP	ENST00000384966.1	37																																																																																						0.413	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		18	35	1	0	1.55795e-14	1	1.5821e-14	18	35				
NLRP11	204801	broad.mit.edu	37	19	56321436	56321436	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56321436G>A	ENST00000589093.1	-	3	633	c.540C>T	c.(538-540)atC>atT	p.I180I	NLRP11_ENST00000443188.1_Silent_p.I180I|NLRP11_ENST00000360133.3_Silent_p.I180I|NLRP11_ENST00000592953.1_Silent_p.I81I|NLRP11_ENST00000589824.2_Silent_p.I180I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	180	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CGACGTACGAGATCATGTTCT	0.498																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(538-540)atC>atT		NLR family, pyrin domain containing 11							149.0	129.0	136.0					19																	56321436		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56321436G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.540C>T	19.37:g.56321436G>A						NLRP11_ENST00000360133.3_Silent_p.I180I|NLRP11_ENST00000592953.1_Silent_p.I81I|NLRP11_ENST00000589093.1_Silent_p.I180I|NLRP11_ENST00000589824.2_Silent_p.I180I	p.I180I	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1250	-		Colorectal(82;0.0002)	180			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.540C>T	CCDS12935.1																																																																																				0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		12	25	0	0	0	1	0	12	25				
KIAA0922	23240	broad.mit.edu	37	4	154553967	154553967	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553967G>A	ENST00000409663.3	+	32	4354	c.4302G>A	c.(4300-4302)caG>caA	p.Q1434Q	KIAA0922_ENST00000409959.3_Silent_p.Q1435Q|KIAA0922_ENST00000440693.1_Silent_p.Q1351Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1434						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTGTGATTCAGGAGTCGGCCC	0.512																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4300-4302)caG>caA		KIAA0922							134.0	105.0	115.0					4																	154553967		2203	4300	6503	SO:0001819	synonymous_variant	23240					integral to membrane		g.chr4:154553967G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4302G>A	4.37:g.154553967G>A						KIAA0922_ENST00000440693.1_Silent_p.Q1351Q|KIAA0922_ENST00000409959.3_Silent_p.Q1435Q	p.Q1434Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			32	4354	+	all_hematologic(180;0.093)	Renal(120;0.118)	1434					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	c.4302G>A	CCDS3783.2																																																																																				0.512	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		23	38	0	0	0	1	0	23	38				
SKI	6497	broad.mit.edu	37	1	2160703	2160703	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:2160703C>T	ENST00000378536.4	+	1	570	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	166					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)	p.I166I(1)		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)		TCATGGGCATCCTGCCCTTCT	0.667																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			1	Substitution - coding silent(1)	p.I166I(1)	lung(1)	central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(496-498)atC>atT		v-ski avian sarcoma viral oncogene homolog							16.0	13.0	14.0					1																	2160703		2181	4283	6464	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.chr1:2160703C>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.498C>T	1.37:g.2160703C>T							p.I166I	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	570	+	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)		166					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.498C>T	CCDS39.1																																																																																				0.667	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		3	11	0	0	0	1	0	3	11				
SYCP1	6847	broad.mit.edu	37	1	115455673	115455673	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:115455673A>G	ENST00000369522.3	+	19	1789	c.1549A>G	c.(1549-1551)Act>Gct	p.T517A	SYCP1_ENST00000369518.1_Missense_Mutation_p.T517A	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	517				LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586). {ECO:0000305}.	chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTGAATTAACTTCACACTG	0.284																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1549-1551)Act>Gct		synaptonemal complex protein 1							90.0	95.0	93.0					1																	115455673		2202	4300	6502	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455673A>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1549A>G	1.37:g.115455673A>G	ENSP00000358535:p.Thr517Ala					SYCP1_ENST00000369518.1_Missense_Mutation_p.T517A	p.T517A	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1789	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	517	LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586).				O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1549A>G	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089454	0.36855	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.53206	0.63;0.63;0.63	5.31	1.67	0.24075	.	0.284575	0.34652	N	0.003783	T	0.12732	0.0309	L	0.35723	1.085	0.32651	N	0.51939	B;B	0.12630	0.006;0.006	B;B	0.21151	0.033;0.033	T	0.19516	-1.0303	10	0.08837	T	0.75	-0.3336	7.2657	0.26227	0.7304:0.0:0.2696:0.0	.	517;517	B7ZLS9;Q15431	.;SYCP1_HUMAN	A	517	ENSP00000358535:T517A;ENSP00000410011:T517A;ENSP00000358531:T517A	ENSP00000358531:T517A	T	+	1	0	SYCP1	115257196	0.999000	0.42202	1.000000	0.80357	0.955000	0.61496	1.986000	0.40677	0.329000	0.23460	0.454000	0.30748	ACT		0.284	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		30	35	0	0	0	1	0	30	35				
ZNF74	7625	broad.mit.edu	37	22	20761140	20761140	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20761140G>A	ENST00000400451.2	+	5	2331	c.1817G>A	c.(1816-1818)gGg>gAg	p.G606E	ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.G606E|ZNF74_ENST00000405993.1_Missense_Mutation_p.G574E|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	606					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ctgggtgcaggggatgctgga	0.617																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1816-1818)gGg>gAg		zinc finger protein 74							49.0	55.0	53.0					22																	20761140		2151	4253	6404	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20761140G>A	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.1817G>A	22.37:g.20761140G>A	ENSP00000383301:p.Gly606Glu					ZNF74_ENST00000356671.5_Missense_Mutation_p.G606E|ZNF74_ENST00000405993.1_Missense_Mutation_p.G574E|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	p.G606E	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		5	2331	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	606					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.1817G>A	CCDS42982.1	.	.	.	.	.	.	.	.	.	.	G	7.169	0.587263	0.13812	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.05447	3.51;3.51;3.44	4.17	-0.602	0.11634	.	1.149830	0.06710	N	0.773057	T	0.09862	0.0242	M	0.82323	2.585	0.09310	N	1	B	0.20368	0.044	B	0.23852	0.049	T	0.44390	-0.9331	10	0.40728	T	0.16	.	1.4852	0.02445	0.1894:0.313:0.3376:0.16	.	606	Q16587	ZNF74_HUMAN	E	606;606;574	ENSP00000383301:G606E;ENSP00000349098:G606E;ENSP00000385855:G574E	ENSP00000349098:G606E	G	+	2	0	ZNF74	19091140	0.004000	0.15560	0.008000	0.14137	0.137000	0.21094	0.183000	0.16919	0.001000	0.14605	0.655000	0.94253	GGG		0.617	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		16	36	0	0	0	1	0	16	36				
CHD9	80205	broad.mit.edu	37	16	53342629	53342629	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:53342629A>G	ENST00000398510.3	+	33	7172	c.7085A>G	c.(7084-7086)cAa>cGa	p.Q2362R	CHD9_ENST00000447540.1_Missense_Mutation_p.Q2347R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2346R|CHD9_ENST00000566029.1_Missense_Mutation_p.Q2346R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2362	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTCAGAAGCAAGGGCTTGCT	0.418																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(7036-7038)cAa>cGa		chromodomain helicase DNA binding protein 9							62.0	62.0	62.0					16																	53342629		1898	4120	6018	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53342629A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7085A>G	16.37:g.53342629A>G	ENSP00000381522:p.Gln2362Arg					CHD9_ENST00000398510.3_Missense_Mutation_p.Q2362R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2346R|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2347R	p.Q2346R			Q3L8U1	CHD9_HUMAN			34	7246	+		all_cancers(37;0.0212)	2362			Binds A/T-rich DNA.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.7037A>G		.	.	.	.	.	.	.	.	.	.	A	18.25	3.581462	0.65992	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.87334	-2.24	5.6	5.6	0.85130	.	0.000000	0.56097	D	0.000037	D	0.91855	0.7422	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D;D	0.63046	0.99;0.987;0.981;0.99;0.992	D;D;D;D;D	0.72982	0.966;0.953;0.969;0.966;0.979	D	0.90724	0.4637	10	0.33141	T	0.24	-12.4624	15.7923	0.78376	1.0:0.0:0.0:0.0	.	428;2362;2347;2362;2346	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	R	2347;2346;428	ENSP00000396345:Q2347R	ENSP00000381522:Q2346R	Q	+	2	0	CHD9	51900130	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.874000	0.92363	2.139000	0.66308	0.459000	0.35465	CAA		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		9	6	0	0	0	1	0	9	6				
TM9SF2	9375	broad.mit.edu	37	13	100181843	100181843	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:100181843T>A	ENST00000376387.4	+	4	646	c.456T>A	c.(454-456)caT>caA	p.H152Q	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	152					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					ATTATCAACATCACTGGTAAG	0.294																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(454-456)caT>caA		transmembrane 9 superfamily member 2							97.0	101.0	99.0					13																	100181843		2202	4295	6497	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100181843T>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.456T>A	13.37:g.100181843T>A	ENSP00000365567:p.His152Gln					TM9SF2_ENST00000463709.1_3'UTR	p.H152Q	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			4	646	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		152					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.456T>A	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418435	0.25552	.	.	ENSG00000125304	ENST00000376387	T	0.40756	1.02	5.26	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.67700	2.07	0.80722	D	1	B	0.23650	0.089	B	0.35727	0.209	T	0.33701	-0.9858	10	0.32370	T	0.25	-33.8513	10.9998	0.47598	0.0:0.0734:0.0:0.9266	.	152	Q99805	TM9S2_HUMAN	Q	152	ENSP00000365567:H152Q	ENSP00000365567:H152Q	H	+	3	2	TM9SF2	98979844	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	0.714000	0.25808	0.943000	0.37553	0.528000	0.53228	CAT		0.294	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			26	53	0	0	0	1	0	26	53				
COL17A1	1308	broad.mit.edu	37	10	105801294	105801294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105801294C>T	ENST00000353479.5	-	37	2844	c.2554G>A	c.(2554-2556)Gtt>Att	p.V852I	COL17A1_ENST00000369733.3_Missense_Mutation_p.V852I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	852	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAATTAAGAACTTCTATAGAG	0.542																																						ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2554-2556)Gtt>Att		collagen, type XVII, alpha 1							21.0	25.0	24.0					10																	105801294		2201	4297	6498	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105801294C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2554G>A	10.37:g.105801294C>T	ENSP00000340937:p.Val852Ile					COL17A1_ENST00000369733.3_Missense_Mutation_p.V852I	p.V852I	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	37	2844	-		Colorectal(252;0.103)|Breast(234;0.122)	852			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2554G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592974	0.28357	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93307	-3.2;-3.2	5.19	3.2	0.36748	.	0.643940	0.13811	N	0.361093	D	0.82719	0.5098	N	0.10645	0.015	0.80722	D	1	B	0.17667	0.023	B	0.14578	0.011	T	0.77308	-0.2636	10	0.37606	T	0.19	-0.0835	5.4859	0.16749	0.1996:0.7009:0.0:0.0995	.	852	Q9UMD9	COHA1_HUMAN	I	852	ENSP00000340937:V852I;ENSP00000358748:V852I	ENSP00000340937:V852I	V	-	1	0	COL17A1	105791284	0.229000	0.23729	1.000000	0.80357	0.833000	0.47200	1.138000	0.31491	2.638000	0.89438	0.491000	0.48974	GTT		0.542	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		12	16	0	0	0	1	0	12	16				
MUC16	94025	broad.mit.edu	37	19	9062673	9062673	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9062673G>A	ENST00000397910.4	-	3	24976	c.24773C>T	c.(24772-24774)tCc>tTc	p.S8258F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8260	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGATTGACTAGG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24772-24774)tCc>tTc		mucin 16, cell surface associated							73.0	77.0	76.0					19																	9062673		2042	4184	6226	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062673G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24773C>T	19.37:g.9062673G>A	ENSP00000381008:p.Ser8258Phe						p.S8258F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24976	-			8260			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24773C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.329	0.060419	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.24908	1.83	2.87	0.659	0.17861	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	.	.	.	B	0.13145	0.007	B	0.10450	0.005	T	0.17410	-1.0370	8	0.87932	D	0	.	4.7059	0.12849	0.3238:0.0:0.6762:0.0	.	8258	B5ME49	.	F	8258	ENSP00000381008:S8258F	ENSP00000381008:S8258F	S	-	2	0	MUC16	8923673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.014000	0.13333	0.252000	0.21531	0.393000	0.25936	TCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	13	0	0	0	1	0	16	13				
CACNA1B	774	broad.mit.edu	37	9	141016177	141016177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:141016177C>T	ENST00000371372.1	+	47	6891	c.6746C>T	c.(6745-6747)gCc>gTc	p.A2249V	CACNA1B_ENST00000277549.5_Missense_Mutation_p.A1443V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2247V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2187S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2250V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2248V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2249					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCCCCTGGCCCCTGGCTCT	0.657																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(4327-4329)gCc>gTc		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						33.0	39.0	37.0					9																	141016177		1984	4162	6146	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141016177C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6746C>T	9.37:g.141016177C>T	ENSP00000360423:p.Ala2249Val					CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2247V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2248V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2187S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2250V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2249V	p.A1443V			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	47	6897	+	all_cancers(76;0.166)		2249					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4328C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.66|12.66	2.006056|2.006056	0.35415|0.35415	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355|ENST00000277551	D;D;D;D;D|D	0.96885|0.96232	-3.94;-4.16;-3.94;-3.93;-3.93|-3.95	5.11|5.11	4.21|4.21	0.49690|0.49690	.|.	0.654924|.	0.14938|.	N|.	0.289666|.	D|D	0.95255|0.95255	0.8461|0.8461	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	P;P|.	0.45569|.	0.861;0.861|.	B;B|.	0.42555|.	0.391;0.391|.	D|D	0.90456|0.90456	0.4442|0.4442	10|7	0.42905|0.72032	T|D	0.14|0.01	.|.	9.3019|9.3019	0.37851|0.37851	0.0:0.7784:0.1446:0.077|0.0:0.7784:0.1446:0.077	.|.	2248;2247|.	B1AQK7;B1AQK6|.	.;.|.	V|S	2249;1443;2247;2248;2250|2187	ENSP00000360423:A2249V;ENSP00000277549:A1443V;ENSP00000360414:A2247V;ENSP00000360408:A2248V;ENSP00000360406:A2250V|ENSP00000277551:P2187S	ENSP00000277549:A1443V|ENSP00000277551:P2187S	A|P	+|+	2|1	0|0	CACNA1B|CACNA1B	140135998|140135998	0.065000|0.065000	0.20965|0.20965	0.809000|0.809000	0.32408|0.32408	0.064000|0.064000	0.16182|0.16182	2.626000|2.626000	0.46460|0.46460	1.156000|1.156000	0.42514|0.42514	-0.266000|-0.266000	0.10368|0.10368	GCC|CCC		0.657	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		37	15	0	0	0	1	0	37	15				
SLCO1B1	10599	broad.mit.edu	37	12	21370150	21370150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21370150G>A	ENST00000256958.2	+	12	1691	c.1595G>A	c.(1594-1596)aGg>aAg	p.R532K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GCTTGTACAAGGAAATTTTAC	0.378																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1594-1596)aGg>aAg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						143.0	145.0	144.0					12																	21370150		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21370150G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1595G>A	12.37:g.21370150G>A	ENSP00000256958:p.Arg532Lys						p.R532K	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			12	1691	+			532					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1595G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	0.249	-1.007857	0.02112	.	.	ENSG00000134538	ENST00000256958	T	0.37058	1.22	2.76	-5.26	0.02772	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.076190	0.06957	N	0.815581	T	0.18718	0.0449	L	0.31420	0.93	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21415	-1.0246	10	0.16896	T	0.51	.	2.4174	0.04439	0.2787:0.2183:0.3976:0.1054	.	532	Q9Y6L6	SO1B1_HUMAN	K	532	ENSP00000256958:R532K	ENSP00000256958:R532K	R	+	2	0	SLCO1B1	21261417	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.691000	0.00830	-2.109000	0.00838	-2.716000	0.00133	AGG		0.378	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		23	39	0	0	0	1	0	23	39				
PRAMEF1	65121	broad.mit.edu	37	1	12854112	12854112	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12854112C>T	ENST00000332296.7	+	3	439	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	112					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAGAATTTCTGGGCCAGAT	0.547																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(334-336)ttC>ttT		PRAME family member 1							169.0	187.0	181.0					1																	12854112		2203	4300	6503	SO:0001819	synonymous_variant	65121							g.chr1:12854112C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.336C>T	1.37:g.12854112C>T							p.F112F	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	439	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	112					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.336C>T	CCDS148.1																																																																																				0.547	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		27	234	0	0	0	1	0	27	234				
ZFYVE28	57732	broad.mit.edu	37	4	2274909	2274909	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2274909A>C	ENST00000290974.2	-	10	2653	c.2314T>G	c.(2314-2316)Tta>Gta	p.L772V	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L742V|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.L77V|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L702V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	772					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCCTTCCTTAACTTTTCCTTG	0.552																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(2314-2316)Tta>Gta		zinc finger, FYVE domain containing 28							206.0	210.0	209.0					4																	2274909		2203	4300	6503	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2274909A>C	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2314T>G	4.37:g.2274909A>C	ENSP00000290974:p.Leu772Val					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L702V|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L742V|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.L77V	p.L772V	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			10	2653	-			772					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.2314T>G	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	A	9.809	1.182525	0.21870	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.73789	-0.78;0.23;0.22;0.23	4.31	-2.61	0.06171	.	0.343568	0.24705	N	0.036274	T	0.54271	0.1848	L	0.27053	0.805	0.80722	D	1	B;B	0.24483	0.076;0.104	B;B	0.23574	0.047;0.024	T	0.38628	-0.9652	10	0.10111	T	0.7	.	12.4854	0.55871	0.2171:0.0:0.7829:0.0	.	742;772	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	V	77;772;742;702	ENSP00000427654:L77V;ENSP00000290974:L772V;ENSP00000425706:L742V;ENSP00000426299:L702V	ENSP00000290974:L772V	L	-	1	2	ZFYVE28	2244707	0.998000	0.40836	0.704000	0.30370	0.964000	0.63967	0.630000	0.24553	-0.457000	0.07033	0.528000	0.53228	TTA		0.552	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		19	66	0	0	0	1	0	19	66				
TUBAL3	79861	broad.mit.edu	37	10	5437377	5437377	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5437377C>T	ENST00000380419.3	-	3	346	c.309G>A	c.(307-309)aaG>aaA	p.K103K	TUBAL3_ENST00000479328.1_Silent_p.K63K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	103					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CAGCATCCTCCTTTCCGCTAA	0.607																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(307-309)aaG>aaA		tubulin, alpha-like 3							147.0	141.0	143.0					10																	5437377		2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5437377C>T	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.309G>A	10.37:g.5437377C>T						TUBAL3_ENST00000479328.1_Silent_p.K63K	p.K103K	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			3	346	-			103					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.309G>A	CCDS7066.2																																																																																				0.607	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		56	99	0	0	0	1	0	56	99				
OSBPL10	114884	broad.mit.edu	37	3	31871625	31871625	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:31871625G>A	ENST00000396556.2	-	4	758	c.636C>T	c.(634-636)gcC>gcT	p.A212A	OSBPL10_ENST00000438237.2_Intron|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	212					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CAACACCGGGGGCCCCCACAC	0.582																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(634-636)gcC>gcT		oxysterol binding protein-like 10							59.0	57.0	58.0					3																	31871625		2203	4300	6503	SO:0001819	synonymous_variant	114884				lipid transport		lipid binding	g.chr3:31871625G>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.636C>T	3.37:g.31871625G>A						OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	p.A212A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	4	758	-			212					B4E212|Q9BTU5	Silent	SNP	ENST00000396556.2	37	c.636C>T	CCDS2651.1																																																																																				0.582	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			16	30	0	0	0	1	0	16	30				
PDZRN3	23024	broad.mit.edu	37	3	73433280	73433280	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:73433280C>T	ENST00000263666.4	-	10	2551	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	813					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGGGATCTTCCGTGATGGAG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2437-2439)Gaa>Aaa		PDZ domain containing ring finger 3							56.0	61.0	59.0					3																	73433280		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433280C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2437G>A	3.37:g.73433280C>T	ENSP00000263666:p.Glu813Lys					PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535K	p.E813K	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2551	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	813					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2437G>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	4.618	0.114791	0.08831	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.09538	2.97;3.66;3.55;3.55;3.67	5.11	5.11	0.69529	.	3.447060	0.00644	N	0.000533	T	0.11367	0.0277	L	0.28014	0.82	0.43338	D	0.995385	B;P;B;P	0.36222	0.317;0.544;0.215;0.544	B;B;B;B	0.33454	0.164;0.084;0.065;0.084	T	0.51004	-0.8760	10	0.06891	T	0.86	.	18.1478	0.89663	0.0:1.0:0.0:0.0	.	535;530;530;813	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	K	813;535;470;470;530	ENSP00000263666:E813K;ENSP00000442026:E535K;ENSP00000418168:E470K;ENSP00000418484:E470K;ENSP00000418624:E530K	ENSP00000263666:E813K	E	-	1	0	PDZRN3	73515970	0.999000	0.42202	0.990000	0.47175	0.050000	0.14768	4.975000	0.63777	2.370000	0.80446	0.655000	0.94253	GAA		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		21	56	0	0	0	1	0	21	56				
LAMB3	3914	broad.mit.edu	37	1	209791281	209791281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791281G>A	ENST00000356082.4	-	20	3156	c.3022C>T	c.(3022-3024)Ctt>Ttt	p.L1008F	LAMB3_ENST00000391911.1_Missense_Mutation_p.L1008F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L1008F	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1008	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATAAGCCGAAGGGAGCGGCTG	0.567																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3022-3024)Ctt>Ttt		laminin, beta 3							95.0	89.0	91.0					1																	209791281		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791281G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3022C>T	1.37:g.209791281G>A	ENSP00000348384:p.Leu1008Phe					LAMB3_ENST00000356082.4_Missense_Mutation_p.L1008F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L1008F	p.L1008F	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3411	-			1008			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3022C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461515	0.43736	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.24723	1.84;1.84;1.84;2.06	4.47	2.38	0.29361	.	0.471231	0.20794	N	0.085575	T	0.18841	0.0452	L	0.32530	0.975	0.33932	D	0.642129	P	0.39883	0.693	B	0.40506	0.331	T	0.26430	-1.0103	10	0.66056	D	0.02	.	6.5413	0.22382	0.0852:0.0:0.5922:0.3226	.	1008	Q13751	LAMB3_HUMAN	F	1008;1008;1008;77	ENSP00000375778:L1008F;ENSP00000348384:L1008F;ENSP00000355997:L1008F;ENSP00000398683:L77F	ENSP00000348384:L1008F	L	-	1	0	LAMB3	207857904	1.000000	0.71417	0.934000	0.37439	0.942000	0.58702	2.373000	0.44266	0.984000	0.38629	0.456000	0.33151	CTT		0.567	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		19	52	0	0	0	1	0	19	52				
ZMYND11	10771	broad.mit.edu	37	10	255963	255963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:255963G>A	ENST00000397962.3	+	3	679	c.251G>A	c.(250-252)gGa>gAa	p.G84E	ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000381584.1_Missense_Mutation_p.G67E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.G44E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000402736.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000403354.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.G84E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	84					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAACAAGAAGGATATTGGTTG	0.373																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(250-252)gGa>gAa		zinc finger, MYND-type containing 11							137.0	137.0	137.0					10																	255963		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:255963G>A	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.251G>A	10.37:g.255963G>A	ENSP00000381053:p.Gly84Glu					ZMYND11_ENST00000403354.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.G67E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.G44E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.G84E	p.G84E			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	679	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	44					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.251G>A	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	31	5.098197	0.94197	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000397955;ENST00000381584;ENST00000545619	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.58101	1.795	0.42825	D	0.994000	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.995;1.0;0.999;1.0;0.999;0.999;1.0	T	0.72534	-0.4264	8	0.33940	T	0.23	-22.6843	20.0572	0.97657	0.0:0.0:1.0:0.0	.	44;84;84;84;84;84;44;84;84;84	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	E	84;84;44;44;84;84;84;84;44;84;44;84;67;44	.	ENSP00000309992:G44E	G	+	2	0	ZMYND11	245963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.737000	0.98831	2.826000	0.97356	0.655000	0.94253	GGA		0.373	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		33	70	0	0	0	1	0	33	70				
OR2T8	343172	broad.mit.edu	37	1	248084355	248084355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084355C>T	ENST00000319968.4	+	1	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATTTCATTCTCCTAGGACTCT	0.413																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(34-36)ctC>ctT		olfactory receptor, family 2, subfamily T, member 8							112.0	108.0	110.0					1																	248084355		2203	4300	6503	SO:0001819	synonymous_variant	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084355C>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.36C>T	1.37:g.248084355C>T							p.L12L	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	36	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	12						Silent	SNP	ENST00000319968.4	37	c.36C>T	CCDS31100.1																																																																																				0.413	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		27	37	0	0	0	1	0	27	37				
MSC	9242	broad.mit.edu	37	8	72756324	72756324	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:72756324G>A	ENST00000325509.4	-	1	379	c.90C>T	c.(88-90)ccC>ccT	p.P30P	RP11-383H13.1_ENST00000537896.1_Intron|MSC_ENST00000518440.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	30					branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGCCGCGGAGGGGCGGCCTCT	0.706																																						ENST00000325509.4																			0				endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26						c.(88-90)ccC>ccT		musculin							12.0	14.0	13.0					8																	72756324		1665	3610	5275	SO:0001819	synonymous_variant	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756324G>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.90C>T	8.37:g.72756324G>A						RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	p.P30P	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	379	-	Breast(64;0.176)		30					O75946|Q53XZ2|Q9BRE7	Silent	SNP	ENST00000325509.4	37	c.90C>T	CCDS43746.1																																																																																				0.706	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1	NM_005098		10	12	0	0	0	1	0	10	12				
KIAA1210	57481	broad.mit.edu	37	X	118281446	118281446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281446C>T	ENST00000402510.2	-	2	399	c.400G>A	c.(400-402)Gat>Aat	p.D134N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	134										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCCTGAATCCTGTTCTTGG	0.502																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(400-402)Gat>Aat		KIAA1210							94.0	86.0	89.0					X																	118281446		2004	4175	6179	SO:0001583	missense	57481							g.chrX:118281446C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.400G>A	X.37:g.118281446C>T	ENSP00000384670:p.Asp134Asn						p.D134N	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			2	399	-			134					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.400G>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257794	0.22965	.	.	ENSG00000250423	ENST00000402510	T	0.13420	2.59	2.93	0.109	0.14578	.	.	.	.	.	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B	0.30937	0.301	B	0.22152	0.038	T	0.33574	-0.9863	9	0.87932	D	0	.	3.0294	0.06102	0.0:0.4758:0.2314:0.2928	.	134	Q9ULL0	K1210_HUMAN	N	134	ENSP00000384670:D134N	ENSP00000384670:D134N	D	-	1	0	RP13-347D8.6	118165474	0.024000	0.19004	0.029000	0.17559	0.049000	0.14656	-0.015000	0.12634	-0.089000	0.12484	-0.279000	0.10071	GAT		0.502	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		20	26	0	0	0	1	0	20	26				
MMP16	4325	broad.mit.edu	37	8	89179954	89179954	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89179954C>T	ENST00000286614.6	-	4	934	c.653G>A	c.(652-654)gGa>gAa	p.G218E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	218					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGGGTATCTCCTCCAATTCC	0.408																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(652-654)gGa>gAa		matrix metallopeptidase 16 (membrane-inserted)							95.0	82.0	86.0					8																	89179954		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89179954C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.653G>A	8.37:g.89179954C>T	ENSP00000286614:p.Gly218Glu					MMP16_ENST00000544227.1_5'UTR	p.G218E	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	934	-			218					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.653G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705835	0.89018	.	.	ENSG00000156103	ENST00000286614	T	0.36878	1.23	5.54	4.66	0.58398	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.87992	0.2750	10	0.87932	D	0	.	16.629	0.85011	0.0:0.8702:0.1298:0.0	.	218;218	P51512-2;P51512	.;MMP16_HUMAN	E	218	ENSP00000286614:G218E	ENSP00000286614:G218E	G	-	2	0	MMP16	89249070	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.754000	0.85163	1.313000	0.45069	0.650000	0.86243	GGA		0.408	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		28	39	0	0	0	1	0	28	39				
FAM47A	158724	broad.mit.edu	37	X	34149012	34149012	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149012G>A	ENST00000346193.3	-	1	1435	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCCCACAAGGGGATTTATGA	0.592																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1384-1386)Cct>Tct		family with sequence similarity 47, member A							45.0	50.0	49.0					X																	34149012		2081	4203	6284	SO:0001583	missense	158724							g.chrX:34149012G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1384C>T	X.37:g.34149012G>A	ENSP00000345029:p.Pro462Ser						p.P462S	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1435	-			462					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1384C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	0.096	-1.159175	0.01686	.	.	ENSG00000185448	ENST00000346193	T	0.22134	1.97	0.8	-0.258	0.12975	.	.	.	.	.	T	0.13114	0.0318	N	0.14661	0.345	0.09310	N	1	D	0.56035	0.974	P	0.50659	0.647	T	0.14364	-1.0475	8	0.09590	T	0.72	.	.	.	.	.	462	Q5JRC9	FA47A_HUMAN	S	462	ENSP00000345029:P462S	ENSP00000345029:P462S	P	-	1	0	FAM47A	34058933	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	0.493000	0.22451	-0.174000	0.10743	0.183000	0.17082	CCT		0.592	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		22	56	0	0	0	1	0	22	56				
CNOT11	55571	broad.mit.edu	37	2	101881467	101881467	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:101881467C>T	ENST00000289382.3	+	4	1156	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	331					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GAATAATGGCCAAAGCCTTCA	0.393																																						ENST00000289382.3																			0											c.(991-993)gcC>gcT		CCR4-NOT transcription complex, subunit 11							106.0	101.0	103.0					2																	101881467		2203	4300	6503	SO:0001819	synonymous_variant	55571							g.chr2:101881467C>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.993C>T	2.37:g.101881467C>T							p.A331A	NM_017546.4	NP_060016.3					4	1156	+								Q6P2M9|Q8N681	Silent	SNP	ENST00000289382.3	37	c.993C>T	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405114	0.25378	.	.	ENSG00000158435	ENST00000420107	.	.	.	5.97	-2.35	0.06684	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.674	1.9046	0.03275	0.3694:0.3137:0.0853:0.2315	.	.	.	.	X	11	.	.	Q	+	1	0	C2orf29	101247899	0.853000	0.29707	0.986000	0.45419	0.983000	0.72400	-0.021000	0.12504	-0.335000	0.08451	-0.181000	0.13052	CAA		0.393	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		29	61	0	0	0	1	0	29	61				
SLC9A7P1	121456	broad.mit.edu	37	12	98849634	98849634	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:98849634C>T	ENST00000554295.1	-	0	1289					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GCGCCAGGATCATGCAGGAGA	0.478																																						ENST00000554295.1																			0																																																			121456							g.chr12:98849634C>T			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849634C>T								NR_033801.1						0	1289	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.478	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			46	7	0	0	0	1	0	46	7				
C1orf146	388649	broad.mit.edu	37	1	92707815	92707815	+	Missense_Mutation	SNP	G	G	A	rs192356914	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92707815G>A	ENST00000370375.3	+	3	261	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	C1orf146_ENST00000370373.2_5'UTR	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		CACAAAGTTCGATATTCAGAT	0.299													G|||	2	0.000399361	0.0	0.0	5008	,	,		16378	0.002		0.0	False		,,,				2504	0.0					ENST00000370375.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(112-114)cGa>cAa		chromosome 1 open reading frame 146							120.0	121.0	121.0					1																	92707815		2203	4299	6502	SO:0001583	missense	388649							g.chr1:92707815G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.113G>A	1.37:g.92707815G>A	ENSP00000359401:p.Arg38Gln					C1orf146_ENST00000370373.2_5'UTR	p.R38Q	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	3	261	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	38					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.113G>A	CCDS30772.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	28.5	4.929910	0.92389	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	T	0.63604	0.2525	L	0.36672	1.1	0.36681	D	0.879041	D	0.89917	1.0	D	0.85130	0.997	T	0.67960	-0.5535	9	0.87932	D	0	0.041	18.8174	0.92081	0.0:0.0:1.0:0.0	.	38	Q5VVC0	CA146_HUMAN	Q	38;17	.	ENSP00000359399:R17Q	R	+	2	0	C1orf146	92480403	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	6.809000	0.75211	2.680000	0.91292	0.655000	0.94253	CGA		0.299	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425		16	27	0	0	0	1	0	16	27				
SPTA1	6708	broad.mit.edu	37	1	158614052	158614052	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158614052G>A	ENST00000368147.4	-	30	4509	c.4329C>T	c.(4327-4329)atC>atT	p.I1443I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1443					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGGGCAGTGATTGCTTTGT	0.373																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4327-4329)atC>atT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							87.0	82.0	84.0					1																	158614052		1874	4100	5974	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614052G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4329C>T	1.37:g.158614052G>A						SPTA1_ENST00000368147.3_Silent_p.I1443I	p.I1443I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			30	4509	-	all_hematologic(112;0.0378)		1443					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4329C>T	CCDS41423.1																																																																																				0.373	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		22	27	0	0	0	1	0	22	27				
POMC	5443	broad.mit.edu	37	2	25384196	25384196	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:25384196C>T	ENST00000405623.1	-	3	1013	c.558G>A	c.(556-558)cgG>cgA	p.R186R	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000380794.1_Silent_p.R186R|POMC_ENST00000395826.2_Silent_p.R186R|POMC_ENST00000264708.3_Silent_p.R186R			P01189	COLI_HUMAN	proopiomelanocortin	186					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	CATCTCCCTCCCGGAGTCGCT	0.711																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(556-558)cgG>cgA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						11.0	12.0	12.0					2																	25384196		2200	4290	6490	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384196C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.558G>A	2.37:g.25384196C>T						POMC_ENST00000264708.3_Silent_p.R186R|POMC_ENST00000395826.2_Silent_p.R186R|POMC_ENST00000380794.1_Silent_p.R186R	p.R186R			P01189	COLI_HUMAN			3	1013	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		186					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.558G>A	CCDS1717.1																																																																																				0.711	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		9	12	0	0	0	1	0	9	12				
LIPE	3991	broad.mit.edu	37	19	42906968	42906968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42906968C>T	ENST00000244289.4	-	9	3034	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	920					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)				TCAGCCTCTTCCCCTGCATCC	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.(2758-2760)Gaa>Aaa		lipase, hormone-sensitive							81.0	66.0	71.0					19																	42906968		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42906968C>T	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.2758G>A	19.37:g.42906968C>T	ENSP00000244289:p.Glu920Lys					LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	p.E920K	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			9	3034	-		Prostate(69;0.00682)	920					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2758G>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925920	0.52759	.	.	ENSG00000079435	ENST00000244289	T	0.03441	3.93	5.38	1.73	0.24493	.	1.137990	0.06584	N	0.750892	T	0.07593	0.0191	M	0.65975	2.015	0.09310	N	1	P	0.46395	0.877	B	0.40741	0.339	T	0.47661	-0.9100	10	0.33940	T	0.23	-9.9262	13.8984	0.63787	0.0:0.4668:0.5332:0.0	.	920	Q05469	LIPS_HUMAN	K	920	ENSP00000244289:E920K	ENSP00000244289:E920K	E	-	1	0	LIPE	47598808	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	1.147000	0.31602	0.234000	0.21139	0.591000	0.81541	GAA		0.627	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		27	35	0	0	0	1	0	27	35				
WARS	7453	broad.mit.edu	37	14	100826920	100826920	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100826920G>A	ENST00000355338.2	-	4	1011	c.393C>T	c.(391-393)ttC>ttT	p.F131F	WARS_ENST00000358655.4_Silent_p.F90F|WARS_ENST00000344102.5_Silent_p.F90F|WARS_ENST00000556645.1_Silent_p.F90F|WARS_ENST00000557135.1_Silent_p.F131F|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000392882.2_Silent_p.F131F	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	131					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTCTGCGCAGGAAGTGGTGTG	0.448																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(391-393)ttC>ttT		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						274.0	244.0	254.0					14																	100826920		2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100826920G>A	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.393C>T	14.37:g.100826920G>A						WARS_ENST00000556645.1_Silent_p.F90F|WARS_ENST00000392882.2_Silent_p.F131F|WARS_ENST00000344102.5_Silent_p.F90F|WARS_ENST00000358655.4_Silent_p.F90F|WARS_ENST00000557135.1_Silent_p.F131F|WARS_ENST00000554084.1_5'UTR	p.F131F	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			4	1011	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	131					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.393C>T	CCDS9960.1																																																																																				0.448	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		33	68	0	0	0	1	0	33	68				
MEGF8	1954	broad.mit.edu	37	19	42862972	42862972	+	Missense_Mutation	SNP	C	C	T	rs375083726		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42862972C>T	ENST00000251268.6	+	30	5209	c.5209C>T	c.(5209-5211)Cgg>Tgg	p.R1737W	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1670W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1737					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGCTCATCTCGGGGTCTGGG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14300	0.0		0.0	False		,,,				2504	0.0					ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5008-5010)Cgg>Tgg		multiple EGF-like-domains 8		C	TRP/ARG	0,4406		0,0,2203	63.0	57.0	59.0		5008	-0.3	0.0	19		59	1,8597	1.2+/-3.3	0,1,4298	no	missense	MEGF8	NM_001410.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	1670/2779	42862972	1,13003	2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42862972C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5209C>T	19.37:g.42862972C>T	ENSP00000251268:p.Arg1737Trp					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1737W	p.R1670W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			29	5643	+		Prostate(69;0.00682)	1737					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5008C>T		.	.	.	.	.	.	.	.	.	.	C	8.592	0.884896	0.17540	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	1.82	-0.349	0.12609	Galactose oxidase/kelch, beta-propeller (1);	3.238890	0.01539	N	0.019152	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	P;B	0.51537	0.946;0.0	B;B	0.26969	0.075;0.0	T	0.24512	-1.0158	10	0.59425	D	0.04	3.0015	4.0161	0.09644	0.0:0.5953:0.0:0.4047	.	1737;1670	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	1670;1737	ENSP00000334219:R1670W;ENSP00000251268:R1737W	ENSP00000251268:R1737W	R	+	1	2	MEGF8	47554812	0.000000	0.05858	0.002000	0.10522	0.242000	0.25591	-0.304000	0.08199	-0.024000	0.13941	0.455000	0.32223	CGG		0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		10	11	0	0	0	1	0	10	11				
BTN2A2	10385	broad.mit.edu	37	6	26384039	26384039	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26384039C>A	ENST00000356709.4	+	0	101				BTN2A2_ENST00000352867.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000469230.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000416795.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000482536.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000432533.2_De_novo_Start_OutOfFrame	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2						negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTCTGCCTGCCCTGGGTGCTC	0.612																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23								butyrophilin, subfamily 2, member A2							206.0	155.0	172.0					6																	26384039		2203	4300	6503			10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384039C>A	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.-11C>A	6.37:g.26384039C>A						BTN2A2_ENST00000352867.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000469230.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000416795.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000432533.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000482536.1_De_novo_Start_OutOfFrame		NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			0	101	+								A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Translation_Start_Site	SNP	ENST00000356709.4	37		CCDS4606.1																																																																																				0.612	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			34	28	1	0	9.85521e-28	1	1.00815e-27	34	28				
BRDT	676	broad.mit.edu	37	1	92446708	92446708	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:92446708C>T	ENST00000362005.3	+	11	2141	c.1723C>T	c.(1723-1725)Cta>Tta	p.L575L	BRDT_ENST00000370389.2_Silent_p.L502L|BRDT_ENST00000394530.3_Silent_p.L529L|BRDT_ENST00000399546.2_Silent_p.L575L|BRDT_ENST00000402388.1_Silent_p.L575L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	575	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCGGCATGTCTAAGAAAGAG	0.348																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1504-1506)Cta>Tta		bromodomain, testis-specific							72.0	76.0	75.0					1																	92446708		2202	4300	6502	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446708C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1723C>T	1.37:g.92446708C>T						BRDT_ENST00000362005.3_Silent_p.L575L|BRDT_ENST00000394530.3_Silent_p.L529L|BRDT_ENST00000402388.1_Silent_p.L575L|BRDT_ENST00000399546.2_Silent_p.L575L	p.L502L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2428	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	575					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.1504C>T	CCDS735.1																																																																																				0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		29	31	0	0	0	1	0	29	31				
DPP4	1803	broad.mit.edu	37	2	162903514	162903514	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:162903514G>A	ENST00000360534.3	-	4	756	c.196C>T	c.(196-198)Cat>Tat	p.H66Y		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	66					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AGATATTCATGATCTAAAGAG	0.294																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(196-198)Cat>Tat		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						50.0	50.0	50.0					2																	162903514		2201	4295	6496	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162903514G>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.196C>T	2.37:g.162903514G>A	ENSP00000353731:p.His66Tyr						p.H66Y	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			4	756	-			66					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.196C>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172787	0.38413	.	.	ENSG00000197635	ENST00000360534	D	0.95756	-3.8	6.04	1.93	0.25924	.	0.870924	0.10496	N	0.667795	D	0.92522	0.7625	M	0.63843	1.955	0.22779	N	0.998742	B	0.06786	0.001	B	0.04013	0.001	D	0.84845	0.0810	10	0.46703	T	0.11	-0.7295	4.8592	0.13575	0.17:0.0:0.5311:0.299	.	66	P27487	DPP4_HUMAN	Y	66	ENSP00000353731:H66Y	ENSP00000353731:H66Y	H	-	1	0	DPP4	162611760	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	0.835000	0.27531	0.817000	0.34445	0.561000	0.74099	CAT		0.294	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			15	22	0	0	0	1	0	15	22				
JAKMIP1	152789	broad.mit.edu	37	4	6055743	6055743	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:6055743C>T	ENST00000282924.5	-	13	2325	c.1840G>A	c.(1840-1842)Gga>Aga	p.G614R	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.G449R|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409021.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G614R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	614	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGTCTGCTCCGTTTGAGAGT	0.388																																						ENST00000282924.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1840-1842)Gga>Aga		janus kinase and microtubule interacting protein 1							194.0	187.0	190.0					4																	6055743		2203	4300	6503	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6055743C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1840G>A	4.37:g.6055743C>T	ENSP00000282924:p.Gly614Arg					JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G614R|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.G449R|JAKMIP1_ENST00000409021.3_Intron	p.G614R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN			13	2325	-			614			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1840G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	8.744	0.919667	0.17982	.	.	ENSG00000152969	ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T	0.29142	1.99;1.99;1.58	5.51	5.51	0.81932	.	1.040440	0.07552	N	0.915585	T	0.44095	0.1277	N	0.14661	0.345	0.44762	D	0.997768	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35325	-0.9793	10	0.30078	T	0.28	.	18.4392	0.90658	0.0:1.0:0.0:0.0	.	449;614	B4DHZ8;Q96N16	.;JKIP1_HUMAN	R	506;614;614;449	ENSP00000282924:G614R;ENSP00000386925:G614R;ENSP00000386745:G449R	ENSP00000282924:G614R	G	-	1	0	JAKMIP1	6106644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.714000	0.54889	2.593000	0.87608	0.655000	0.94253	GGA		0.388	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		25	91	0	0	0	1	0	25	91				
TRPM4	54795	broad.mit.edu	37	19	49692330	49692330	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49692330T>C	ENST00000252826.5	+	14	2127	c.2001T>C	c.(1999-2001)ttT>ttC	p.F667F	TRPM4_ENST00000427978.2_Silent_p.F667F|TRPM4_ENST00000355712.5_Silent_p.F313F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	667					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTGCCTTCTTTGCCCAGGATG	0.622																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(1999-2001)ttT>ttC		transient receptor potential cation channel, subfamily M, member 4							57.0	60.0	59.0					19																	49692330		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49692330T>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2001T>C	19.37:g.49692330T>C						TRPM4_ENST00000427978.2_Silent_p.F667F|TRPM4_ENST00000355712.5_Silent_p.F313F	p.F667F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	2127	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	667					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.2001T>C	CCDS33073.1																																																																																				0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		25	46	0	0	0	1	0	25	46				
KIAA1407	57577	broad.mit.edu	37	3	113723455	113723455	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113723455C>T	ENST00000295878.3	-	11	2125				KIAA1407_ENST00000545063.1_Silent_p.V500V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407											endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGATAACAACCACCAAGGCCA	0.463																																						ENST00000545063.1																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1498-1500)gtG>gtA		KIAA1407							158.0	142.0	148.0					3																	113723455		2203	4300	6503	SO:0001627	intron_variant	57577							g.chr3:113723455C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1978+28G>A	3.37:g.113723455C>T						KIAA1407_ENST00000295878.3_Intron	p.V500V			Q8NCU4	K1407_HUMAN			11	2154	-			0					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.1500G>A	CCDS2977.1																																																																																				0.463	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		36	62	0	0	0	1	0	36	62				
HELLS	3070	broad.mit.edu	37	10	96342814	96342814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96342814C>T	ENST00000348459.5	+	12	1429	c.1324C>T	c.(1324-1326)Cag>Tag	p.Q442*	HELLS_ENST00000371332.4_Nonsense_Mutation_p.Q442*|HELLS_ENST00000394045.1_Intron|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TATGCTGCACCAGGTTTTCCA	0.378																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1324-1326)Cag>Tag		helicase, lymphoid-specific							167.0	162.0	164.0					10																	96342814		2203	4299	6502	SO:0001587	stop_gained	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96342814C>T	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1324C>T	10.37:g.96342814C>T	ENSP00000239027:p.Gln442*					HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Intron|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Nonsense_Mutation_p.Q442*	p.Q442*	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	12	1429	+		Colorectal(252;0.0429)	442						Nonsense_Mutation	SNP	ENST00000348459.5	37	c.1324C>T	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	C	39	7.718971	0.98450	.	.	ENSG00000119969	ENST00000348459;ENST00000371332	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-11.527	19.3963	0.94608	0.0:1.0:0.0:0.0	.	.	.	.	X	442	.	ENSP00000239027:Q442X	Q	+	1	0	HELLS	96332804	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.572000	0.82409	2.814000	0.96858	0.655000	0.94253	CAG		0.378	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		29	43	0	0	0	1	0	29	43				
SORCS1	114815	broad.mit.edu	37	10	108431074	108431074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:108431074C>T	ENST00000263054.6	-	16	2117	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	SORCS1_ENST00000344440.6_Missense_Mutation_p.E704K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	704					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACTTCCGCTCTGATTTTCGC	0.438																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2110-2112)Gag>Aag		sortilin-related VPS10 domain containing receptor 1							257.0	215.0	229.0					10																	108431074		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108431074C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2110G>A	10.37:g.108431074C>T	ENSP00000263054:p.Glu704Lys					SORCS1_ENST00000344440.6_Missense_Mutation_p.E704K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239K	p.E704K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	16	2117	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	704					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2110G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118021	0.56505	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.28666	1.6;1.6;1.6	5.45	5.45	0.79879	VPS10 (1);	0.178264	0.49305	N	0.000141	T	0.25195	0.0612	N	0.14661	0.345	0.43803	D	0.99635	P;P;P;P;P	0.37352	0.456;0.458;0.591;0.456;0.591	B;B;B;B;B	0.41271	0.191;0.352;0.352;0.191;0.352	T	0.03423	-1.1038	9	.	.	.	-29.8449	19.6556	0.95837	0.0:1.0:0.0:0.0	.	704;704;704;704;704	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	239;704;704	ENSP00000358712:E239K;ENSP00000263054:E704K;ENSP00000345964:E704K	.	E	-	1	0	SORCS1	108421064	0.928000	0.31464	0.996000	0.52242	0.990000	0.78478	3.705000	0.54823	2.725000	0.93324	0.655000	0.94253	GAG		0.438	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		44	63	0	0	0	1	0	44	63				
FAT3	120114	broad.mit.edu	37	11	92531002	92531002	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92531002G>A	ENST00000298047.6	+	9	4840	c.4823G>A	c.(4822-4824)gGg>gAg	p.G1608E	FAT3_ENST00000525166.1_Splice_Site_p.G1458E|FAT3_ENST00000409404.2_Splice_Site_p.G1608E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1608	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTATTTTAGGGAACACTGGG	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.e9-1		FAT atypical cadherin 3							80.0	76.0	78.0					11																	92531002		1934	4138	6072	SO:0001630	splice_region_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531002G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4823-1G>A	11.37:g.92531002G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Splice_Site_p.G1458_splice|FAT3_ENST00000409404.2_Splice_Site_p.G1608_splice	p.G1608_splice			Q8TDW7	FAT3_HUMAN			9	4840	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1608			Cadherin 15.		B5MDB0|Q96AU6	Splice_Site	SNP	ENST00000298047.6	37	c.4822_splice		.	.	.	.	.	.	.	.	.	.	G	22.4	4.279726	0.80692	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62105	0.05;0.05;0.05	5.81	5.81	0.92471	.	.	.	.	.	T	0.80884	0.4709	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79745	-0.1674	8	.	.	.	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	1608	Q8TDW7-3	.	E	1608;1608;1458	ENSP00000298047:G1608E;ENSP00000387040:G1608E;ENSP00000432586:G1458E	.	G	+	2	0	FAT3	92170650	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	9.787000	0.99055	2.755000	0.94549	0.650000	0.86243	GGG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	Missense_Mutation	39	44	0	0	0	1	0	39	44				
NES	10763	broad.mit.edu	37	1	156639725	156639725	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156639725C>T	ENST00000368223.3	-	4	4387	c.4255G>A	c.(4255-4257)Ggg>Agg	p.G1419R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1419	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ccctcctccccactttcttcc	0.652																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4255-4257)Ggg>Agg		nestin							16.0	19.0	18.0					1																	156639725		2198	4290	6488	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639725C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4255G>A	1.37:g.156639725C>T	ENSP00000357206:p.Gly1419Arg						p.G1419R	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4387	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1419			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4255G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673650	0.67928	.	.	ENSG00000132688	ENST00000368223	D	0.90504	-2.68	4.99	4.99	0.66335	.	.	.	.	.	D	0.93324	0.7872	M	0.63843	1.955	0.37470	D	0.915577	D	0.89917	1.0	D	0.74023	0.982	D	0.94017	0.7289	9	0.59425	D	0.04	.	16.8338	0.85951	0.0:1.0:0.0:0.0	.	1419	P48681	NEST_HUMAN	R	1419	ENSP00000357206:G1419R	ENSP00000357206:G1419R	G	-	1	0	NES	154906349	0.001000	0.12720	1.000000	0.80357	0.978000	0.69477	0.902000	0.28459	2.316000	0.78162	0.557000	0.71058	GGG		0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		11	22	0	0	0	1	0	11	22				
CNOT4	4850	broad.mit.edu	37	7	135069477	135069477	+	IGR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:135069477G>A	ENST00000315544.5	-	0	4631				CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000414802.1_Missense_Mutation_p.L418F|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000356162.4_Missense_Mutation_p.L418F|CNOT4_ENST00000541284.1_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ggctctgtaaggtctgccttt	0.413																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000414802.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1252-1254)Ctt>Ttt		CCR4-NOT transcription complex, subunit 4							51.0	51.0	51.0					7																	135069477		876	1991	2867	SO:0001628	intergenic_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135069477G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568		7.37:g.135069477G>A						CNOT4_ENST00000473470.1_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000356162.4_Missense_Mutation_p.L418F|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron	p.L418F			O95628	CNOT4_HUMAN			10	1251	-			418					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.1252C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817290	0.32145	.	.	ENSG00000080802	ENST00000414802;ENST00000356162	T;T	0.64260	-0.09;-0.09	2.61	0.66	0.17868	.	.	.	.	.	T	0.55561	0.1928	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.52087	-0.8622	6	0.72032	D	0.01	.	4.451	0.11621	0.3609:0.0:0.6391:0.0	.	.	.	.	F	418	ENSP00000416532:L418F;ENSP00000348485:L418F	ENSP00000348485:L418F	L	-	1	0	CNOT4	134720017	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.486000	0.06513	0.158000	0.19367	0.563000	0.77884	CTT		0.413	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		11	15	0	0	0	1	0	11	15				
ATP9B	374868	broad.mit.edu	37	18	77134009	77134009	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77134009C>T	ENST00000426216.2	+	28	3199	c.3182C>T	c.(3181-3183)aCc>aTc	p.T1061I	ATP9B_ENST00000307671.7_Missense_Mutation_p.T1061I|ATP9B_ENST00000543761.1_Missense_Mutation_p.T382I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1061					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GTGGCGCTGACCGTCCGCACG	0.567																																						ENST00000426216.2																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(3181-3183)aCc>aTc		ATPase, class II, type 9B							130.0	102.0	112.0					18																	77134009		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77134009C>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.3182C>T	18.37:g.77134009C>T	ENSP00000398076:p.Thr1061Ile					ATP9B_ENST00000543761.1_Missense_Mutation_p.T382I|ATP9B_ENST00000307671.7_Missense_Mutation_p.T1061I	p.T1061I	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	28	3199	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	1061					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.3182C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228972	0.79688	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;T	0.41400	1.0;1.0;1.0	5.19	5.19	0.71726	.	0.051547	0.85682	D	0.000000	T	0.69351	0.3101	M	0.86343	2.81	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.961;0.97	T	0.72434	-0.4295	10	0.41790	T	0.15	.	18.7337	0.91746	0.0:1.0:0.0:0.0	.	1061;1061	O43861;O43861-2	ATP9B_HUMAN;.	I	1061;1061;382	ENSP00000398076:T1061I;ENSP00000304500:T1061I;ENSP00000442015:T382I	ENSP00000304500:T1061I	T	+	2	0	ATP9B	75234997	1.000000	0.71417	0.847000	0.33407	0.387000	0.30353	5.676000	0.68131	2.415000	0.81967	0.655000	0.94253	ACC		0.567	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		23	52	0	0	0	1	0	23	52				
KIAA0586	9786	broad.mit.edu	37	14	58917345	58917345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58917345C>T	ENST00000556134.1	+	9	1239	c.965C>T	c.(964-966)cCt>cTt	p.P322L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L|KIAA0586_ENST00000423743.3_Missense_Mutation_p.P293L	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	322					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.P337L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGAAATCTCCTTTGGAGACA	0.323																																						ENST00000423743.3																			1	Substitution - Missense(1)	p.P337L(1)	NS(1)	endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(877-879)cCt>cTt		KIAA0586							48.0	50.0	49.0					14																	58917345		1806	4081	5887	SO:0001583	missense	9786							g.chr14:58917345C>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.965C>T	14.37:g.58917345C>T	ENSP00000452351:p.Pro322Leu					KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P322L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L	p.P293L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			9	1136	+			337					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.878C>T	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335622	0.81801	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.98	4.98	0.66077	.	0.148204	0.44285	D	0.000469	T	0.71787	0.3381	M	0.66939	2.045	0.43874	D	0.996481	D;D;P;D;D;D	0.89917	0.961;0.992;0.521;1.0;0.996;0.979	P;P;B;D;P;P	0.91635	0.804;0.876;0.187;0.999;0.876;0.859	T	0.74633	-0.3600	10	0.72032	D	0.01	.	18.0475	0.89337	0.0:1.0:0.0:0.0	.	197;197;390;337;322;293	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	390;322;293;337;197	ENSP00000346359:P390L;ENSP00000452351:P322L;ENSP00000399427:P293L;ENSP00000261244:P337L	ENSP00000261244:P337L	P	+	2	0	KIAA0586	57987098	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.225000	0.65294	2.582000	0.87167	0.563000	0.77884	CCT		0.323	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		14	23	0	0	0	1	0	14	23				
RBM12B	389677	broad.mit.edu	37	8	94746055	94746055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:94746055G>A	ENST00000399300.2	-	3	2797	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.P742S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	862							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAATTGTCAGGAAGTCTAGGG	0.522																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2584-2586)Cct>Tct		RNA binding motif protein 12B							84.0	86.0	85.0					8																	94746055		1817	4077	5894	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746055G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2584C>T	8.37:g.94746055G>A	ENSP00000382239:p.Pro862Ser					RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.P742S	p.P862S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2797	-	Breast(36;4.14e-07)		862					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2584C>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747100	0.30955	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07567	3.22;3.18	5.95	-0.709	0.11237	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45848	-0.9233	9	0.20046	T	0.44	0.0191	2.1456	0.03786	0.2012:0.1094:0.4642:0.2251	.	862	Q8IXT5	RB12B_HUMAN	S	862;742	ENSP00000382239:P862S;ENSP00000427729:P742S	ENSP00000382239:P862S	P	-	1	0	RBM12B	94815231	0.008000	0.16893	0.035000	0.18076	0.987000	0.75469	0.232000	0.17891	-0.454000	0.07066	0.563000	0.77884	CCT		0.522	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		52	72	0	0	0	1	0	52	72				
EPB41L1	2036	broad.mit.edu	37	20	34778667	34778667	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34778667C>T	ENST00000338074.2	+	11	1409	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	EPB41L1_ENST00000373941.1_Silent_p.F416F|EPB41L1_ENST00000441639.1_Silent_p.F354F|EPB41L1_ENST00000373950.2_Silent_p.F319F|EPB41L1_ENST00000202028.5_Silent_p.F354F|EPB41L1_ENST00000373946.3_Silent_p.F385F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	416					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTGCACCCTTCTTTGAGCGTT	0.607																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1246-1248)ttC>ttT		erythrocyte membrane protein band 4.1-like 1							58.0	52.0	54.0					20																	34778667		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34778667C>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1248C>T	20.37:g.34778667C>T						EPB41L1_ENST00000373946.3_Silent_p.F385F|EPB41L1_ENST00000373941.1_Silent_p.F416F|EPB41L1_ENST00000441639.1_Silent_p.F354F|EPB41L1_ENST00000202028.5_Silent_p.F354F|EPB41L1_ENST00000373950.2_Silent_p.F319F	p.F416F	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			11	1409	+	Breast(12;0.0239)		416					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.1248C>T	CCDS13271.1																																																																																				0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		16	27	0	0	0	1	0	16	27				
ANXA11	311	broad.mit.edu	37	10	81930562	81930562	+	Silent	SNP	C	C	T	rs372441196		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81930562C>T	ENST00000438331.1	-	5	647	c.165G>A	c.(163-165)tcG>tcA	p.S55S	ANXA11_ENST00000360615.4_Silent_p.S55S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000537102.1_Silent_p.S22S|ANXA11_ENST00000422982.3_Silent_p.S55S|ANXA11_ENST00000535999.1_Silent_p.S55S|ANXA11_ENST00000265447.4_Silent_p.S55S|ANXA11_ENST00000372231.3_Silent_p.S55S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	55					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCACCATTCCCGAGAGATAGT	0.642																																						ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(163-165)tcG>tcA		annexin A11			,,	0,4406		0,0,2203	80.0	65.0	70.0		165,165,165	-9.2	0.7	10		70	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ANXA11	NM_001157.2,NM_145868.1,NM_145869.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	55/506,55/506,55/506	81930562	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930562C>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.165G>A	10.37:g.81930562C>T						ANXA11_ENST00000537102.1_Silent_p.S22S|ANXA11_ENST00000360615.4_Silent_p.S55S|ANXA11_ENST00000372231.3_Silent_p.S55S|ANXA11_ENST00000265447.4_Silent_p.S55S|ANXA11_ENST00000535999.1_Silent_p.S55S|ANXA11_ENST00000422982.3_Silent_p.S55S	p.S55S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	647	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		55					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.165G>A	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	9.709	1.156623	0.21454	0.0	1.16E-4	ENSG00000122359	ENST00000424188	.	.	.	4.69	-9.23	0.00672	.	.	.	.	.	T	0.57184	0.2036	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.71258	-0.4646	5	0.87932	D	0	.	8.9827	0.35974	0.1024:0.1456:0.0:0.752	.	.	.	.	Q	11	.	ENSP00000410826:R11Q	R	-	2	0	ANXA11	81920542	0.002000	0.14202	0.735000	0.30896	0.772000	0.43724	-2.549000	0.00930	-2.061000	0.00892	0.443000	0.29094	CGG		0.642	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		24	50	0	0	0	1	0	24	50				
ADAMTS4	9507	broad.mit.edu	37	1	161163959	161163959	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:161163959G>A	ENST00000367996.5	-	5	1742	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	438	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	CCTTGCCAGGGAAAGTCACAG	0.617																																						ENST00000367996.4																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1312-1314)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 4							60.0	67.0	65.0					1																	161163959		2203	4300	6503	SO:0001819	synonymous_variant	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161163959G>A	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1314C>T	1.37:g.161163959G>A						ADAMTS4_ENST00000478394.1_5'UTR	p.F438F	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1742	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		438			Disintegrin.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Silent	SNP	ENST00000367996.5	37	c.1314C>T	CCDS1223.1																																																																																				0.617	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		34	44	0	0	0	1	0	34	44				
ZNF311	282890	broad.mit.edu	37	6	28964205	28964205	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:28964205C>T	ENST00000377179.3	-	7	1086	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	192					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(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CATTGATTCTCTAATTTGACA	0.398																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(574-576)Gag>Aag		zinc finger protein 311							114.0	132.0	126.0					6																	28964205		1511	2708	4219	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28964205C>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.574G>A	6.37:g.28964205C>T	ENSP00000366384:p.Glu192Lys					ZNF311_ENST00000483450.1_5'UTR	p.E192K	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1086	-			192					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.574G>A	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	3.825	-0.036975	0.07497	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.05513	3.43	3.77	1.96	0.26148	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47086	-0.9144	9	0.06625	T	0.88	-2.3087	6.1938	0.20538	0.0:0.6577:0.0:0.3423	.	192	Q5JNZ3	ZN311_HUMAN	K	192;100	ENSP00000366384:E192K	ENSP00000366384:E192K	E	-	1	0	ZNF311	29072184	0.001000	0.12720	0.003000	0.11579	0.023000	0.10783	1.385000	0.34408	0.346000	0.23899	0.585000	0.79938	GAG		0.398	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		41	22	0	0	0	1	0	41	22				
MYT1	4661	broad.mit.edu	37	20	62854480	62854480	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854480T>C	ENST00000328439.1	+	15	2777	c.2413T>C	c.(2413-2415)Tgt>Cgt	p.C805R	MYT1_ENST00000360149.4_Missense_Mutation_p.C507R|MYT1_ENST00000536311.1_Missense_Mutation_p.C832R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCCTGGCTGTGACGGCAG	0.637																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2494-2496)Tgt>Cgt		myelin transcription factor 1							125.0	124.0	124.0					20																	62854480		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854480T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2413T>C	20.37:g.62854480T>C	ENSP00000327465:p.Cys805Arg					MYT1_ENST00000328439.1_Missense_Mutation_p.C805R|MYT1_ENST00000360149.4_Missense_Mutation_p.C507R	p.C832R			Q01538	MYT1_HUMAN			15	2858	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		805					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2494T>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201691	0.58234	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.62232	0.75;0.04;0.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83298	0.5224	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	0.973;0.994;1.0	P;D;D	0.91635	0.807;0.981;0.999	D	0.87393	0.2364	10	0.87932	D	0	-9.1582	15.6017	0.76631	0.0:0.0:0.0:1.0	.	832;805;507	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	507;805;832	ENSP00000353269:C507R;ENSP00000327465:C805R;ENSP00000442412:C832R	ENSP00000327465:C805R	C	+	1	0	MYT1	62324924	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.898000	0.87363	2.076000	0.62316	0.533000	0.62120	TGT		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		57	97	0	0	0	1	0	57	97				
COL11A1	1301	broad.mit.edu	37	1	103481224	103481224	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103481224C>T	ENST00000370096.3	-	12	1800	c.1488G>A	c.(1486-1488)ccG>ccA	p.P496P	COL11A1_ENST00000512756.1_Splice_Site_p.P380P|COL11A1_ENST00000353414.4_Splice_Site_p.P457P|COL11A1_ENST00000358392.2_Splice_Site_p.P508P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	496	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGAACATACCGGTAACATCA	0.388																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e12+1		collagen, type XI, alpha 1							37.0	34.0	35.0					1																	103481224		2203	4296	6499	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103481224C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1488+1G>A	1.37:g.103481224C>T						COL11A1_ENST00000512756.1_Splice_Site_p.P380_splice|COL11A1_ENST00000370096.3_Splice_Site_p.P496_splice|COL11A1_ENST00000353414.4_Splice_Site_p.P457_splice	p.P508_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	12	1841	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	496			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.1524_splice	CCDS778.1																																																																																				0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Silent	3	10	0	0	0	1	0	3	10				
NPC1L1	29881	broad.mit.edu	37	7	44579282	44579282	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:44579282C>T	ENST00000289547.4	-	2	769	c.714G>A	c.(712-714)gaG>gaA	p.E238E	NPC1L1_ENST00000381160.3_Silent_p.E238E|NPC1L1_ENST00000423141.1_Silent_p.E238E|NPC1L1_ENST00000546276.1_Silent_p.E238E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	238					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GTGCAACCCCCTCATTCAGAG	0.632																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(712-714)gaG>gaA		NPC1-like 1	Ezetimibe(DB00973)						75.0	70.0	71.0					7																	44579282		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579282C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.714G>A	7.37:g.44579282C>T						NPC1L1_ENST00000546276.1_Silent_p.E238E|NPC1L1_ENST00000381160.3_Silent_p.E238E|NPC1L1_ENST00000423141.1_Silent_p.E238E	p.E238E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	769	-			238					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.714G>A	CCDS5491.1																																																																																				0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		54	59	0	0	0	1	0	54	59				
MAST4	375449	broad.mit.edu	37	5	66461410	66461410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461410C>T	ENST00000403625.2	+	29	6698	c.6403C>T	c.(6403-6405)Ccg>Tcg	p.P2135S	MAST4_ENST00000404260.3_Missense_Mutation_p.P2138S|MAST4_ENST00000261569.7_Missense_Mutation_p.P1941S|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCATCCCTCCGCCCCCTCT	0.602																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6412-6414)Ccg>Tcg		microtubule associated serine/threonine kinase family member 4							29.0	39.0	36.0					5																	66461410		2076	4189	6265	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461410C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6403C>T	5.37:g.66461410C>T	ENSP00000385727:p.Pro2135Ser					MAST4_ENST00000261569.7_Missense_Mutation_p.P1941S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135S|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946S	p.P2138S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6720	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2138			Pro-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6412C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.78|13.78	2.339484|2.339484	0.41398|0.41398	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.64618|.	-0.09;-0.09;-0.11;-0.11;-0.09|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	1.072830|.	0.07211|.	N|.	0.859279|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.14661|0.14661	0.345|0.345	0.21020|0.21020	N|N	0.999806|0.999806	B;B|.	0.23249|.	0.049;0.082|.	B;B|.	0.28011|.	0.039;0.085|.	T|T	0.19128|0.19128	-1.0315|-1.0315	10|5	0.28530|.	T|.	0.3|.	-8.7172|-8.7172	13.6872|13.6872	0.62524|0.62524	0.1535:0.8465:0.0:0.0|0.1535:0.8465:0.0:0.0	.|.	2138;1946|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	S|F	2138;2135;1946;1956;1956;1941|1191	ENSP00000385048:P2138S;ENSP00000385727:P2135S;ENSP00000384313:P1946S;ENSP00000384099:P1956S;ENSP00000261569:P1941S|.	ENSP00000261569:P1941S|.	P|S	+|+	1|2	0|0	MAST4|MAST4	66497166|66497166	0.202000|0.202000	0.23423|0.23423	0.824000|0.824000	0.32777|0.32777	0.010000|0.010000	0.07245|0.07245	1.852000|1.852000	0.39348|0.39348	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	CCG|TCC		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	17	0	0	0	1	0	6	17				
SMG7	9887	broad.mit.edu	37	1	183515292	183515292	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183515292G>A	ENST00000347615.2	+	17	2681	c.2562G>A	c.(2560-2562)atG>atA	p.M854I	SMG7_ENST00000507469.1_Missense_Mutation_p.M808I|SMG7_ENST00000367537.3_Missense_Mutation_p.M837I|SMG7_ENST00000515829.2_Missense_Mutation_p.M808I|SMG7_ENST00000508461.1_Missense_Mutation_p.M812I|SMG7_ENST00000456731.2_Missense_Mutation_p.M766I	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	854					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTTTTCCCATGGAGCCATATA	0.453																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2509-2511)atG>atA		SMG7 nonsense mediated mRNA decay factor							79.0	80.0	80.0					1																	183515292		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515292G>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2562G>A	1.37:g.183515292G>A	ENSP00000340766:p.Met854Ile					SMG7_ENST00000507469.1_Missense_Mutation_p.M808I|SMG7_ENST00000456731.2_Missense_Mutation_p.M766I|SMG7_ENST00000508461.1_Missense_Mutation_p.M812I|SMG7_ENST00000347615.2_Missense_Mutation_p.M854I|SMG7_ENST00000515829.2_Missense_Mutation_p.M808I	p.M837I			Q92540	SMG7_HUMAN			18	2706	+			854			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2511G>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181482	0.57800	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.62	5.62	0.85841	.	0.332441	0.36778	N	0.002412	T	0.35941	0.0949	N	0.24115	0.695	0.51233	D	0.999919	B;B;B;B;B;B	0.14012	0.009;0.003;0.003;0.006;0.009;0.009	B;B;B;B;B;B	0.09377	0.003;0.002;0.002;0.004;0.003;0.004	T	0.17776	-1.0358	10	0.12430	T	0.62	-6.356	19.6614	0.95875	0.0:0.0:1.0:0.0	.	812;837;766;808;854;808	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	I	766;837;812;854;808;808	ENSP00000407629:M766I;ENSP00000356507:M837I;ENSP00000426915:M812I;ENSP00000340766:M854I;ENSP00000425133:M808I;ENSP00000421358:M808I	ENSP00000340766:M854I	M	+	3	0	SMG7	181781915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.639000	0.74314	2.633000	0.89246	0.655000	0.94253	ATG		0.453	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		17	68	0	0	0	1	0	17	68				
TMEM202	338949	broad.mit.edu	37	15	72690714	72690714	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72690714T>C	ENST00000341689.3	+	1	101	c.47T>C	c.(46-48)gTt>gCt	p.V16A	TMEM202_ENST00000567679.1_Missense_Mutation_p.V16A	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	16						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGTCCTGAGGTTCCCAAAATA	0.453																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(46-48)gTt>gCt		transmembrane protein 202							48.0	47.0	47.0					15																	72690714		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72690714T>C		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.47T>C	15.37:g.72690714T>C	ENSP00000340212:p.Val16Ala					TMEM202_ENST00000567679.1_Missense_Mutation_p.V16A	p.V16A	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			1	101	+			16						Missense_Mutation	SNP	ENST00000341689.3	37	c.47T>C	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705969	0.30232	.	.	ENSG00000187806	ENST00000341689	T	0.54866	0.55	4.22	3.09	0.35607	.	0.504604	0.16722	N	0.202217	T	0.36331	0.0963	L	0.40543	1.245	0.23411	N	0.997736	P	0.36144	0.539	B	0.30716	0.119	T	0.13602	-1.0503	10	0.32370	T	0.25	-36.0878	6.352	0.21381	0.0:0.1133:0.0:0.8867	.	16	A6NGA9	TM202_HUMAN	A	16	ENSP00000340212:V16A	ENSP00000340212:V16A	V	+	2	0	TMEM202	70477768	0.551000	0.26497	0.834000	0.33040	0.668000	0.39293	1.005000	0.29834	0.761000	0.33130	0.482000	0.46254	GTT		0.453	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		8	18	0	0	0	1	0	8	18				
PABPC5	140886	broad.mit.edu	37	X	90691537	90691537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:90691537G>A	ENST00000312600.3	+	2	1175	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.E157K	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	321	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACTGAAGGAGGAATTTTCTTC	0.438																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(961-963)Gaa>Aaa		poly(A) binding protein, cytoplasmic 5							55.0	55.0	55.0					X																	90691537		2203	4299	6502	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691537G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.961G>A	X.37:g.90691537G>A	ENSP00000308012:p.Glu321Lys					PABPC5_ENST00000373105.1_Missense_Mutation_p.E157K	p.E321K	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1175	+			321			RRM 4.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.961G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819890	0.71028	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.15952	2.38;2.38	4.14	4.14	0.48551	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	N	0.21324	0.655	0.58432	D	0.999999	D	0.71674	0.998	P	0.57911	0.829	T	0.01537	-1.1330	10	0.33940	T	0.23	.	13.362	0.60661	0.0:0.0:1.0:0.0	.	321	Q96DU9	PABP5_HUMAN	K	157;321;289	ENSP00000362197:E157K;ENSP00000308012:E321K	ENSP00000308012:E321K	E	+	1	0	PABPC5	90578193	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.404000	0.79996	2.318000	0.78349	0.529000	0.55759	GAA		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		33	73	0	0	0	1	0	33	73				
OR8K1	390157	broad.mit.edu	37	11	56114036	56114036	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114036C>T	ENST00000279783.2	+	1	616	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AACTGTCCTTCTGTGGCTCAA	0.353										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(520-522)ttC>ttT		olfactory receptor, family 8, subfamily K, member 1							150.0	153.0	152.0					11																	56114036		2201	4296	6497	SO:0001819	synonymous_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114036C>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.522C>T	11.37:g.56114036C>T		HNSCC(65;0.19)					p.F174F	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	616	+	Esophageal squamous(21;0.00448)		174					B9EJB1|Q6IFC3|Q96RC1	Silent	SNP	ENST00000279783.2	37	c.522C>T	CCDS31528.1																																																																																				0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		53	74	0	0	0	1	0	53	74				
ZSCAN2	54993	broad.mit.edu	37	15	85147360	85147360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:85147360G>A	ENST00000448803.2	+	2	494	c.202G>A	c.(202-204)Gag>Aag	p.E68K	ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E68K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E68K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	68	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCCCAGGAGGAGGTGACCAG	0.642																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(202-204)Gag>Aag		zinc finger and SCAN domain containing 2							30.0	31.0	31.0					15																	85147360		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85147360G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.202G>A	15.37:g.85147360G>A	ENSP00000410198:p.Glu68Lys					ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E68K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E68K|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E68K	p.E68K	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	2	494	+			68			SCAN box.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.202G>A	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536314	0.45176	.	.	ENSG00000176371	ENST00000540936;ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T;T	0.33438	1.41;3.23;3.23;3.3;3.29;3.21;3.39;3.35;3.39	4.69	2.82	0.32997	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.536026	0.15853	N	0.241423	T	0.33469	0.0864	L	0.46157	1.445	0.23101	N	0.998299	P;B;B;B;B;B;P	0.50156	0.932;0.008;0.035;0.0;0.0;0.004;0.827	P;B;B;B;B;B;B	0.50970	0.655;0.015;0.025;0.002;0.002;0.006;0.442	T	0.07751	-1.0756	10	0.42905	T	0.14	-15.7519	7.1756	0.25742	0.2023:0.0:0.7977:0.0	.	68;68;68;68;68;68;68	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	K	68;68;68;68;68;68;68;68;68;49	ENSP00000446041:E68K;ENSP00000410198:E68K;ENSP00000445451:E68K;ENSP00000333895:E68K;ENSP00000368663:E68K;ENSP00000325123:E68K;ENSP00000441342:E68K;ENSP00000439132:E68K;ENSP00000440004:E68K	ENSP00000325123:E68K	E	+	1	0	ZSCAN2	82948364	1.000000	0.71417	0.572000	0.28498	0.649000	0.38597	3.869000	0.56062	0.704000	0.31869	0.655000	0.94253	GAG		0.642	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		9	17	0	0	0	1	0	9	17				
DDR2	4921	broad.mit.edu	37	1	162748417	162748417	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162748417G>T	ENST00000367922.3	+	18	2769	c.2331G>T	c.(2329-2331)ttG>ttT	p.L777F	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.L777F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GGGTTACTTTGTGGGAGACTT	0.443																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2329-2331)ttG>ttT		discoidin domain receptor tyrosine kinase 2							203.0	200.0	201.0					1																	162748417		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162748417G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2331G>T	1.37:g.162748417G>T	ENSP00000356899:p.Leu777Phe					DDR2_ENST00000367921.3_Missense_Mutation_p.L777F	p.L777F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		18	2769	+	all_hematologic(112;0.115)		777			Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2331G>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747976	0.69533	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.91996	-2.95;-2.95	5.49	2.42	0.29668	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.83483	2.645	0.41036	D	0.985195	D	0.89917	1.0	D	0.83275	0.996	D	0.92042	0.5641	9	0.87932	D	0	.	6.3891	0.21577	0.0737:0.1298:0.6624:0.1341	.	777	Q16832	DDR2_HUMAN	F	777	ENSP00000356899:L777F;ENSP00000356898:L777F	ENSP00000356898:L777F	L	+	3	2	DDR2	161015041	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.382000	0.20635	0.608000	0.30000	0.655000	0.94253	TTG		0.443	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		42	69	1	0	6.68952e-21	1	6.8285e-21	42	69				
HAUS5	23354	broad.mit.edu	37	19	36113526	36113526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113526C>T	ENST00000203166.5	+	18	1700	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	559					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCAGGCATCCCAGGAAAAACA	0.557																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1675-1677)Cag>Tag		HAUS augmin-like complex, subunit 5							40.0	43.0	42.0					19																	36113526		1994	4166	6160	SO:0001587	stop_gained	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113526C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1675C>T	19.37:g.36113526C>T	ENSP00000439056:p.Gln559*					HAUS5_ENST00000379045.2_3'UTR	p.Q559*	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			18	1700	+			559					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Nonsense_Mutation	SNP	ENST00000203166.5	37	c.1675C>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.546939	0.86022	.	.	ENSG00000249115	ENST00000203166	.	.	.	4.79	2.55	0.30701	.	0.214978	0.37761	N	0.001955	.	.	.	.	.	.	0.51767	D	0.999937	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.5898	8.2994	0.32006	0.0:0.7337:0.1709:0.0954	.	.	.	.	X	559	.	ENSP00000439056:Q559X	Q	+	1	0	HAUS5	40805366	0.487000	0.25988	0.996000	0.52242	0.752000	0.42762	0.657000	0.24963	1.248000	0.43934	0.643000	0.83706	CAG		0.557	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			15	25	0	0	0	1	0	15	25				
FAM47B	170062	broad.mit.edu	37	X	34961393	34961393	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34961393G>C	ENST00000329357.5	+	1	481	c.445G>C	c.(445-447)Gtg>Ctg	p.V149L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	149										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCTACTACAGGTGCTGAAACA	0.557																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(445-447)Gtg>Ctg		family with sequence similarity 47, member B							72.0	63.0	66.0					X																	34961393		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961393G>C	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.445G>C	X.37:g.34961393G>C	ENSP00000328307:p.Val149Leu						p.V149L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	481	+			149					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.445G>C	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	6.397	0.441424	0.12164	.	.	ENSG00000189132	ENST00000329357	T	0.18960	2.18	0.843	-0.306	0.12780	.	.	.	.	.	T	0.29749	0.0743	M	0.82823	2.61	0.09310	N	1	D	0.56521	0.976	P	0.50049	0.629	T	0.16305	-1.0407	9	0.51188	T	0.08	.	2.5077	0.04649	0.2609:0.313:0.4261:0.0	.	149	Q8NA70	FA47B_HUMAN	L	149	ENSP00000328307:V149L	ENSP00000328307:V149L	V	+	1	0	FAM47B	34871314	0.270000	0.24152	0.001000	0.08648	0.029000	0.11900	0.364000	0.20325	-0.184000	0.10567	0.292000	0.19580	GTG		0.557	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		32	50	0	0	0	1	0	32	50				
GABRA6	2559	broad.mit.edu	37	5	161128682	161128682	+	Missense_Mutation	SNP	G	G	A	rs377497663		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:161128682G>A	ENST00000274545.5	+	9	1698	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	GABRA6_ENST00000523217.1_Missense_Mutation_p.R412Q			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	422					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAGTATTCTCGAATTCTCTTC	0.458										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(1234-1236)cGa>cAa		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	G	GLN/ARG	0,4406		0,0,2203	132.0	119.0	124.0		1265	5.2	1.0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	GABRA6	NM_000811.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	422/454	161128682	1,13005	2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161128682G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1265G>A	5.37:g.161128682G>A	ENSP00000274545:p.Arg422Gln	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.R422Q	p.R412Q	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1477	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	422					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1235G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501043	0.96371	0.0	1.16E-4	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85861	-2.04;-2.04	5.16	5.16	0.70880	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.105878	0.64402	D	0.000010	D	0.93115	0.7808	M	0.84433	2.695	0.54753	D	0.999989	D	0.89917	1.0	D	0.70716	0.97	D	0.93985	0.7261	10	0.87932	D	0	.	19.013	0.92881	0.0:0.0:1.0:0.0	.	422	Q16445	GBRA6_HUMAN	Q	422;412	ENSP00000274545:R422Q;ENSP00000430527:R412Q	ENSP00000274545:R422Q	R	+	2	0	GABRA6	161061260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.695000	0.98691	2.571000	0.86741	0.655000	0.94253	CGA		0.458	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			24	45	0	0	0	1	0	24	45				
PRDM7	11105	broad.mit.edu	37	16	90141417	90141417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:90141417G>A	ENST00000449207.2	-	3	227	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PRDM7_ENST00000569206.1_5'UTR|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	70	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAAGCTGGTCGAGTGGCTCTG	0.493																																						ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(208-210)Cga>Tga		PR domain containing 7							85.0	77.0	80.0					16																	90141417		1887	4109	5996	SO:0001587	stop_gained	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90141417G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.208C>T	16.37:g.90141417G>A	ENSP00000396732:p.Arg70*					PRDM7_ENST00000569206.1_5'UTR|PRDM7_ENST00000407825.1_5'UTR	p.R70*	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	3	227	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	70			KRAB-related.		A4Q9G8|Q08EM4|Q9NQW4	Nonsense_Mutation	SNP	ENST00000449207.2	37	c.208C>T	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	11.07	1.531928	0.27387	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.21473	N	0.999676	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6957	6.2704	0.20951	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	.	R	-	1	2	PRDM7	88668918	0.985000	0.35326	0.095000	0.20976	0.217000	0.24651	1.401000	0.34589	1.105000	0.41606	0.485000	0.47835	CGA		0.493	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			16	36	0	0	0	1	0	16	36				
FLG	2312	broad.mit.edu	37	1	152285010	152285010	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152285010C>T	ENST00000368799.1	-	3	2387	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	784	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)			GAGACCTTTCCCCTGACCGGT	0.562									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.(2350-2352)ggG>ggA		filaggrin							323.0	309.0	314.0					1																	152285010		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152285010C>T	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.2352G>A	1.37:g.152285010C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G784G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2387	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		784			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2352G>A	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	223	0	0	0	1	0	62	223				
RYR2	6262	broad.mit.edu	37	1	237730043	237730043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237730043G>A	ENST00000366574.2	+	28	3708	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	RYR2_ENST00000542537.1_Missense_Mutation_p.D1115N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1129N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1131	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGGCTCAGATGAACGTGC	0.537																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3391-3393)Gat>Aat		ryanodine receptor 2 (cardiac)							201.0	201.0	201.0					1																	237730043		2089	4214	6303	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730043G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3391G>A	1.37:g.237730043G>A	ENSP00000355533:p.Asp1131Asn					RYR2_ENST00000360064.6_Missense_Mutation_p.D1129N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1115N	p.D1131N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3708	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1131			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3391G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974529	0.92919	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61627	0.09;0.09;0.09	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000006	T	0.80660	0.4665	M	0.91406	3.205	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	D	0.85443	0.1156	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1131	Q92736	RYR2_HUMAN	N	1131;1129;1115	ENSP00000355533:D1131N;ENSP00000353174:D1129N;ENSP00000443798:D1115N	ENSP00000353174:D1129N	D	+	1	0	RYR2	235796666	1.000000	0.71417	0.527000	0.27925	0.688000	0.40055	9.864000	0.99589	2.465000	0.83290	0.655000	0.94253	GAT		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		131	30	0	0	0	1	0	131	30				
CNTN6	27255	broad.mit.edu	37	3	1414581	1414581	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414581C>T	ENST00000446702.2	+	14	2355	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	CNTN6_ENST00000539053.1_Silent_p.L504L|CNTN6_ENST00000350110.2_Silent_p.L576L			Q9UQ52	CNTN6_HUMAN	contactin 6	576	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAAATATCTCTGCACAGTAC	0.373																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1726-1728)ctC>ctT		contactin 6							153.0	159.0	157.0					3																	1414581		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414581C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1728C>T	3.37:g.1414581C>T						CNTN6_ENST00000539053.1_Silent_p.L504L|CNTN6_ENST00000350110.2_Silent_p.L576L	p.L576L			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	14	2355	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	576			Ig-like C2-type 6.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.1728C>T	CCDS2557.1																																																																																				0.373	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		39	64	0	0	0	1	0	39	64				
ANXA11	311	broad.mit.edu	37	10	81921761	81921761	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81921761G>A	ENST00000438331.1	-	13	1592	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ANXA11_ENST00000537102.1_Silent_p.N337N|ANXA11_ENST00000265447.4_Silent_p.N370N|ANXA11_ENST00000535999.1_Silent_p.N370N|ANXA11_ENST00000360615.4_Silent_p.N370N|ANXA11_ENST00000372231.3_Silent_p.N370N|ANXA11_ENST00000422982.3_Silent_p.N370N	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	370					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCCCAGGCGGTTCTCCCCGG	0.652											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000438331.1																			0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(1108-1110)aaC>aaT		annexin A11							45.0	44.0	45.0					10																	81921761		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81921761G>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1110C>T	10.37:g.81921761G>A			OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1210	ANXA11_ENST00000537102.1_Silent_p.N337N|ANXA11_ENST00000360615.4_Silent_p.N370N|ANXA11_ENST00000372231.3_Silent_p.N370N|ANXA11_ENST00000265447.4_Silent_p.N370N|ANXA11_ENST00000535999.1_Silent_p.N370N|ANXA11_ENST00000422982.3_Silent_p.N370N	p.N370N	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	Colorectal(32;0.109)		13	1592	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		370					B4DVE7	Silent	SNP	ENST00000438331.1	37	c.1110C>T	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320950	0.23994	.	.	ENSG00000122359	ENST00000447489	.	.	.	5.07	2.14	0.27477	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48747	-0.9008	4	.	.	.	.	7.6378	0.28276	0.3558:0.0:0.6442:0.0	.	.	.	.	I	3	.	.	T	-	2	0	ANXA11	81911741	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.349000	0.20055	0.667000	0.31107	0.558000	0.71614	ACC		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		30	31	0	0	0	1	0	30	31				
EVPL	2125	broad.mit.edu	37	17	74019697	74019697	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74019697G>A	ENST00000301607.3	-	3	490	c.237C>T	c.(235-237)caC>caT	p.H79H	EVPL_ENST00000586740.1_Silent_p.H79H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	79	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTCCTGCTGGTGCTGCAGGG	0.687																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(235-237)caC>caT		envoplakin							19.0	22.0	21.0					17																	74019697		2195	4299	6494	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74019697G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.237C>T	17.37:g.74019697G>A						EVPL_ENST00000586740.1_Silent_p.H79H	p.H79H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			3	490	-			79			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.237C>T	CCDS11737.1																																																																																				0.687	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	11	0	0	0	1	0	4	11				
KRTAP5-4	387267	broad.mit.edu	37	11	1643045	1643045	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1643045G>A	ENST00000399682.1	-	1	323	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGACACAGC	0.687																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(277-279)tcC>tcT		keratin associated protein 5-4							7.0	12.0	11.0					11																	1643045		668	1566	2234	SO:0001819	synonymous_variant	387267					keratin filament		g.chr11:1643045G>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.279C>T	11.37:g.1643045G>A							p.S93S	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	323	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	93			9 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000399682.1	37	c.279C>T																																																																																					0.687	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		12	98	0	0	0	1	0	12	98				
EMID1	129080	broad.mit.edu	37	22	29621206	29621206	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29621206G>A	ENST00000404820.3	+	4	530		c.e4+1		EMID1_ENST00000484039.1_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000334018.6_Splice_Site			Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GCCTTCTCAGGTGGGTCCTGG	0.622																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.e4+1		EMI domain containing 1							81.0	78.0	79.0					22																	29621206		2203	4300	6503	SO:0001630	splice_region_variant	129080					collagen		g.chr22:29621206G>A	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.403+1G>A	22.37:g.29621206G>A						EMID1_ENST00000484039.1_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000404820.3_Splice_Site		NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			4	591	+								B0QYK6|Q6ICG1|Q86SS7	Splice_Site	SNP	ENST00000404820.3	37			.	.	.	.	.	.	.	.	.	.	G	18.73	3.687363	0.68157	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9127	0.58189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EMID1	27951206	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.224000	0.58593	2.489000	0.83994	0.655000	0.94253	.		0.622	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455	Intron	24	40	0	0	0	1	0	24	40				
PRF1	5551	broad.mit.edu	37	10	72357844	72357844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72357844C>T	ENST00000441259.1	-	3	1793	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K	PRF1_ENST00000373209.2_Missense_Mutation_p.E545K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	545					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTGGAGGCTCCCCCAGAAGC	0.587			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1633-1635)Gag>Aag		perforin 1 (pore forming protein)							54.0	57.0	56.0					10																	72357844		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72357844C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1633G>A	10.37:g.72357844C>T	ENSP00000398568:p.Glu545Lys					PRF1_ENST00000373209.2_Missense_Mutation_p.E545K	p.E545K	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1793	-			545					B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1633G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425531	0.25639	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.91351	-2.83;-2.83	5.97	4.12	0.48240	.	0.662668	0.15541	N	0.256959	D	0.83977	0.5371	L	0.41027	1.25	0.23559	N	0.99742	B	0.06786	0.001	B	0.06405	0.002	T	0.68364	-0.5428	10	0.17832	T	0.49	-19.0992	8.2791	0.31889	0.0:0.8261:0.0:0.1739	.	545	P14222	PERF_HUMAN	K	545	ENSP00000362305:E545K;ENSP00000398568:E545K	ENSP00000316746:E545K	E	-	1	0	PRF1	72027850	0.001000	0.12720	0.581000	0.28614	0.382000	0.30200	1.139000	0.31504	1.533000	0.49186	0.655000	0.94253	GAG		0.587	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		18	33	0	0	0	1	0	18	33				
LPIN3	64900	broad.mit.edu	37	20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:39977494C>T	ENST00000373257.3	+	4	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	175					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(523-525)tCc>tTc		lipin 3							33.0	32.0	32.0					20																	39977494		2203	4299	6502	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39977494C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.524C>T	20.37:g.39977494C>T	ENSP00000362354:p.Ser175Phe						p.S175F	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			4	615	+		Myeloproliferative disorder(115;0.000739)	175					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.524C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	8.398	0.841275	0.16891	.	.	ENSG00000132793	ENST00000373257	T	0.81415	-1.49	4.64	3.7	0.42460	.	1.070240	0.07226	N	0.861757	T	0.72053	0.3413	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.594;0.877	B;B	0.41723	0.308;0.365	T	0.61860	-0.6976	9	.	.	.	-17.252	6.5012	0.22170	0.0:0.8335:0.0:0.1665	.	175;175	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	F	175	ENSP00000362354:S175F	.	S	+	2	0	LPIN3	39410908	0.001000	0.12720	0.249000	0.24280	0.031000	0.12232	1.159000	0.31749	2.580000	0.87095	0.655000	0.94253	TCC		0.567	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		9	12	0	0	0	1	0	9	12				
ZKSCAN2	342357	broad.mit.edu	37	16	25263318	25263318	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:25263318G>A	ENST00000328086.7	-	4	1520	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	239	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTTCTGTAGGAAAAGCCTC	0.488																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(715-717)tcC>tcT		zinc finger with KRAB and SCAN domains 2							137.0	126.0	130.0					16																	25263318		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25263318G>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.717C>T	16.37:g.25263318G>A							p.S239S	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	4	1520	-			239			KRAB.		A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.717C>T	CCDS32410.1																																																																																				0.488	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		36	66	0	0	0	1	0	36	66				
SRCAP	10847	broad.mit.edu	37	16	30747679	30747679	+	Silent	SNP	C	C	T	rs550188188		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30747679C>T	ENST00000262518.4	+	32	7273	c.6888C>T	c.(6886-6888)tcC>tcT	p.S2296S	SRCAP_ENST00000395059.2_Silent_p.S2234S|SRCAP_ENST00000344771.4_Silent_p.S2138S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2296	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAGATGTCCCGGGCTGAGC	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18167	0.0		0.0	False		,,,				2504	0.0					ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6886-6888)tcC>tcT		Snf2-related CREBBP activator protein							76.0	68.0	71.0					16																	30747679		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30747679C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6888C>T	16.37:g.30747679C>T						SRCAP_ENST00000344771.4_Silent_p.S2138S|SRCAP_ENST00000395059.2_Silent_p.S2234S	p.S2296S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		32	7273	+			2296			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.6888C>T	CCDS10689.2																																																																																				0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		27	38	0	0	0	1	0	27	38				
LARS	51520	broad.mit.edu	37	5	145524196	145524196	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:145524196C>A	ENST00000394434.2	-	16	1746	c.1580G>T	c.(1579-1581)tGt>tTt	p.C527F	LARS_ENST00000545646.1_Missense_Mutation_p.C481F|LARS_ENST00000510191.1_Missense_Mutation_p.C473F|LARS_ENST00000274562.9_Missense_Mutation_p.C500F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	527					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCACTGGTCACACAGAGCCAC	0.393																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(1579-1581)tGt>tTt		leucyl-tRNA synthetase	L-Leucine(DB00149)						125.0	114.0	117.0					5																	145524196		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145524196C>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1580G>T	5.37:g.145524196C>A	ENSP00000377954:p.Cys527Phe					LARS_ENST00000274562.9_Missense_Mutation_p.C500F|LARS_ENST00000545646.1_Missense_Mutation_p.C481F|LARS_ENST00000510191.1_Missense_Mutation_p.C473F	p.C527F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1746	-			527					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.1580G>T	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264703	0.80358	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.97	4.97	0.65823	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.93507	3.425	0.80722	D	1	D;D;P	0.76494	0.996;0.999;0.89	D;D;P	0.83275	0.958;0.996;0.69	D	0.91555	0.5260	10	0.49607	T	0.09	-10.9866	18.5992	0.91242	0.0:1.0:0.0:0.0	.	500;481;527	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	F	527;481;473;500	ENSP00000377954:C527F;ENSP00000437791:C481F;ENSP00000426005:C473F;ENSP00000274562:C500F	ENSP00000274562:C500F	C	-	2	0	LARS	145504389	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.445000	0.80570	2.473000	0.83533	0.561000	0.74099	TGT		0.393	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		24	46	1	0	4.59853e-10	1	4.64019e-10	24	46				
PDE3A	5139	broad.mit.edu	37	12	20801789	20801789	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:20801789G>A	ENST00000359062.3	+	13	2773	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	911	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGACCTGAAGAAACACTTTG	0.363																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2731-2733)aaG>aaA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						97.0	92.0	94.0					12																	20801789		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801789G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2733G>A	12.37:g.20801789G>A						PDE3A_ENST00000544307.1_3'UTR	p.K911K	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2773	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	911			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2733G>A	CCDS31754.1																																																																																				0.363	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			30	69	0	0	0	1	0	30	69				
CNKSR2	22866	broad.mit.edu	37	X	21627285	21627285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:21627285G>A	ENST00000379510.3	+	20	2278	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E748K|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E718K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E699K	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	748					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTTTCGCCAGGAAGTAACTGG	0.522																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2152-2154)Gaa>Aaa		connector enhancer of kinase suppressor of Ras 2							78.0	77.0	77.0					X																	21627285		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627285G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2242G>A	X.37:g.21627285G>A	ENSP00000368824:p.Glu748Lys					CNKSR2_ENST00000379510.3_Missense_Mutation_p.E748K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E699K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E748K	p.E718K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	2632	+			748					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2152G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758808	0.49468	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.18810	2.47;2.19;2.19;2.47	5.28	5.28	0.74379	.	0.047746	0.85682	D	0.000000	T	0.20618	0.0496	L	0.54323	1.7	0.58432	D	0.999998	B;B;B;P	0.43431	0.101;0.065;0.287;0.807	B;B;B;B	0.37692	0.029;0.025;0.135;0.256	T	0.06356	-1.0831	10	0.09084	T	0.74	-3.7525	17.9342	0.89007	0.0:0.0:1.0:0.0	.	718;699;340;748	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	K	718;699;748;748	ENSP00000397906:E718K;ENSP00000444633:E699K;ENSP00000279451:E748K;ENSP00000368824:E748K	ENSP00000279451:E748K	E	+	1	0	CNKSR2	21537206	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.639000	0.83342	2.168000	0.68352	0.506000	0.49869	GAA		0.522	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		63	71	0	0	0	1	0	63	71				
SBK2	646643	broad.mit.edu	37	19	56047458	56047458	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56047458C>T	ENST00000413299.1	-	2	241	c.204G>A	c.(202-204)ctG>ctA	p.L68L	SBK2_ENST00000344158.3_Silent_p.L68L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AACCCTGGCCCAGGGGACGCA	0.672																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(202-204)ctG>ctA		SH3 domain binding kinase family, member 2							35.0	39.0	37.0					19																	56047458		2083	4179	6262	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047458C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.204G>A	19.37:g.56047458C>T						SBK2_ENST00000344158.3_Silent_p.L68L	p.L68L	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			2	241	-			68			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.204G>A	CCDS42631.1																																																																																				0.672	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		10	18	0	0	0	1	0	10	18				
HABP2	3026	broad.mit.edu	37	10	115338533	115338533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:115338533G>A	ENST00000351270.3	+	7	812	c.716G>A	c.(715-717)gGg>gAg	p.G239E	HABP2_ENST00000541666.1_Missense_Mutation_p.G239E|HABP2_ENST00000542051.1_Missense_Mutation_p.G213E|HABP2_ENST00000537906.1_3'UTR	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	239	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GAAACCCATGGGATTGGGGAA	0.408																																						ENST00000351270.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(715-717)gGg>gAg		hyaluronan binding protein 2							163.0	147.0	153.0					10																	115338533		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115338533G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.716G>A	10.37:g.115338533G>A	ENSP00000277903:p.Gly239Glu					HABP2_ENST00000541666.1_Missense_Mutation_p.G239E|HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.G213E	p.G239E	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	7	812	+		Colorectal(252;0.0233)|Breast(234;0.0672)	239			Kringle.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.716G>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795624	0.70452	.	.	ENSG00000148702	ENST00000542051;ENST00000351270;ENST00000541666	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	4.44	0.53790	Kringle (5);Kringle-like fold (1);	0.104674	0.64402	D	0.000003	T	0.79191	0.4404	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81967	-0.0690	10	0.87932	D	0	.	13.2595	0.60097	0.078:0.0:0.922:0.0	.	239	Q14520	HABP2_HUMAN	E	213;239;239	ENSP00000443283:G213E;ENSP00000277903:G239E;ENSP00000438373:G239E	ENSP00000277903:G239E	G	+	2	0	HABP2	115328523	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	7.207000	0.77899	2.672000	0.90937	0.462000	0.41574	GGG		0.408	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		27	55	0	0	0	1	0	27	55				
KCNA5	3741	broad.mit.edu	37	12	5155095	5155095	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:5155095G>A	ENST00000252321.3	+	1	2011	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	594					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|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 membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGAGCAACGTGGACTTGCGGA	0.577																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1780-1782)gtG>gtA		potassium voltage-gated channel, shaker-related subfamily, member 5							41.0	41.0	41.0					12																	5155095		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155095G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1782G>A	12.37:g.5155095G>A							p.V594V	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	2011	+			594					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.1782G>A	CCDS8536.1																																																																																				0.577	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		17	14	0	0	0	1	0	17	14				
EXOC5	10640	broad.mit.edu	37	14	57676316	57676316	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:57676316G>A	ENST00000413566.2	-	17	2266	c.1907C>T	c.(1906-1908)gCc>gTc	p.A636V	EXOC5_ENST00000340918.7_Missense_Mutation_p.A571V	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	636					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCTATATTCGGCTACATCACA	0.388																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1906-1908)gCc>gTc		exocyst complex component 5							115.0	102.0	106.0					14																	57676316		1914	4137	6051	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57676316G>A	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1907C>T	14.37:g.57676316G>A	ENSP00000389934:p.Ala636Val					EXOC5_ENST00000340918.7_Missense_Mutation_p.A571V	p.A636V	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			17	2266	-			636					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.1907C>T	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966680	0.92855	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.46819	0.87;0.86	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	L	0.34521	1.04	0.80722	D	1	P;P	0.41748	0.718;0.761	B;B	0.42738	0.275;0.396	T	0.45131	-0.9282	10	0.52906	T	0.07	-9.6383	19.0941	0.93242	0.0:0.0:1.0:0.0	.	571;636	F8W9B8;O00471	.;EXOC5_HUMAN	V	636;571	ENSP00000389934:A636V;ENSP00000342100:A571V	ENSP00000342100:A571V	A	-	2	0	EXOC5	56746069	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.691000	0.98679	2.578000	0.87016	0.650000	0.86243	GCC		0.388	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		10	19	0	0	0	1	0	10	19				
GRIN2C	2905	broad.mit.edu	37	17	72848616	72848616	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72848616G>A	ENST00000293190.5	-	3	680	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRIN2C_ENST00000347612.4_Silent_p.F178F|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	178					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCCCTCCAGGAAGAGCGCGT	0.716																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(532-534)ttC>ttT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						11.0	14.0	13.0					17																	72848616		2158	4248	6406	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72848616G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.534C>T	17.37:g.72848616G>A						GRIN2C_ENST00000347612.4_Silent_p.F178F|GRIN2C_ENST00000578159.1_5'UTR	p.F178F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			3	680	-	all_lung(278;0.172)|Lung NSC(278;0.207)		178					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.534C>T	CCDS32724.1																																																																																				0.716	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			6	11	0	0	0	1	0	6	11				
EPHA10	284656	broad.mit.edu	37	1	38227713	38227713	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:38227713G>A	ENST00000373048.4	-	3	213	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R72C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R72C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	72	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.R72C(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGTACGTGCGGATGGGACGG	0.612																																						ENST00000373048.4																			1	Substitution - Missense(1)	p.R72C(1)	prostate(1)	NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(214-216)Cgc>Tgc		EPH receptor A10							82.0	67.0	72.0					1																	38227713		2203	4300	6503	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227713G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.214C>T	1.37:g.38227713G>A	ENSP00000362139:p.Arg72Cys					EPHA10_ENST00000427468.2_Missense_Mutation_p.R72C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R72C	p.R72C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	213	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	72					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.214C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499904	0.64298	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.04654	3.58;3.58;3.58	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.39341	N	0.001398	T	0.25344	0.0616	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.01848	-1.1261	10	0.87932	D	0	.	10.2949	0.43618	0.0915:0.0:0.9085:0.0	.	72;72	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	72	ENSP00000397746:R72C;ENSP00000362139:R72C;ENSP00000316395:R72C	ENSP00000316395:R72C	R	-	1	0	EPHA10	38000300	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.798000	0.55522	2.448000	0.82819	0.549000	0.68633	CGC		0.612	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		22	57	0	0	0	1	0	22	57				
CGN	57530	broad.mit.edu	37	1	151491492	151491492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151491492C>T	ENST00000271636.7	+	2	630	c.497C>T	c.(496-498)cCa>cTa	p.P166L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	160	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGCTTCCCCAGGTAGCACC	0.602																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(496-498)cCa>cTa		cingulin							74.0	75.0	75.0					1																	151491492		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491492C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.497C>T	1.37:g.151491492C>T	ENSP00000271636:p.Pro166Leu						p.P166L	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	630	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		160			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.497C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365196	0.24684	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.66280	0.75;-0.2	4.93	3.03	0.35002	.	0.883255	0.10100	N	0.716048	T	0.34629	0.0904	L	0.44542	1.39	0.19300	N	0.999972	B	0.20887	0.049	B	0.19148	0.024	T	0.43376	-0.9395	10	0.72032	D	0.01	-1.7281	9.0618	0.36438	0.0:0.826:0.0:0.174	.	160	Q9P2M7	CING_HUMAN	L	166	ENSP00000410836:P166L;ENSP00000271636:P166L	ENSP00000271636:P166L	P	+	2	0	CGN	149758116	0.000000	0.05858	0.015000	0.15790	0.303000	0.27691	0.874000	0.28065	0.784000	0.33661	0.561000	0.74099	CCA		0.602	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		19	76	0	0	0	1	0	19	76				
OR10A2	341276	broad.mit.edu	37	11	6891406	6891406	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6891406C>T	ENST00000307322.4	+	1	483	c.421C>T	c.(421-423)Cct>Tct	p.P141S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCAGGCTTTCCTGTAGCTAC	0.542																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(421-423)Cct>Tct		olfactory receptor, family 10, subfamily A, member 2							135.0	128.0	130.0					11																	6891406		2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891406C>T	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.421C>T	11.37:g.6891406C>T	ENSP00000303862:p.Pro141Ser						p.P141S	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	483	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	141					B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.421C>T	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	12.30	1.896809	0.33535	.	.	ENSG00000170790	ENST00000307322	T	0.36520	1.25	3.99	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.32071	0.0817	N	0.21194	0.64	0.09310	N	1	D	0.53462	0.96	P	0.54924	0.764	T	0.05566	-1.0877	10	0.32370	T	0.25	.	7.0516	0.25075	0.1984:0.6093:0.1923:0.0	.	141	Q9H208	O10A2_HUMAN	S	141	ENSP00000303862:P141S	ENSP00000303862:P141S	P	+	1	0	OR10A2	6847982	0.000000	0.05858	0.768000	0.31515	0.723000	0.41478	0.141000	0.16076	1.001000	0.39076	-0.187000	0.12897	CCT		0.542	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		66	86	0	0	0	1	0	66	86				
MRGPRX2	117194	broad.mit.edu	37	11	19077804	19077804	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:19077804C>T	ENST00000329773.2	-	2	233	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	49					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAGCACAAACCCGTTTCCTAC	0.582																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(145-147)gGg>gAg		MAS-related GPR, member X2							92.0	99.0	97.0					11																	19077804		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077804C>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.146G>A	11.37:g.19077804C>T	ENSP00000333800:p.Gly49Glu						p.G49E	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	233	-			49					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.146G>A	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.191141	0.78902	.	.	ENSG00000183695	ENST00000329773	T	0.12774	2.65	5.14	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	1.132930	0.06568	N	0.748039	T	0.20901	0.0503	M	0.75150	2.29	0.09310	N	1	B	0.23490	0.086	B	0.40565	0.333	T	0.54009	-0.8357	10	0.87932	D	0	.	9.8631	0.41127	0.3895:0.3966:0.2139:0.0	.	49	Q96LB1	MRGX2_HUMAN	E	49	ENSP00000333800:G49E	ENSP00000333800:G49E	G	-	2	0	MRGPRX2	19034380	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	-0.470000	0.06639	-2.254000	0.00697	-0.846000	0.03041	GGG		0.582	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		43	100	0	0	0	1	0	43	100				
MSRB2	22921	broad.mit.edu	37	10	23408343	23408343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:23408343C>T	ENST00000376510.3	+	4	510	c.407C>T	c.(406-408)tCg>tTg	p.S136L	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	136					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	CTGGATACCTCGTTAGGATCA	0.522																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	ENST00000376510.3																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9						c.(406-408)tCg>tTg		methionine sulfoxide reductase B2	L-Methionine(DB00134)						101.0	102.0	102.0					10																	23408343		1972	4156	6128	SO:0001583	missense	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23408343C>T	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.407C>T	10.37:g.23408343C>T	ENSP00000365693:p.Ser136Leu					MSRB2_ENST00000468633.1_3'UTR	p.S136L	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN			4	510	+			136					Q17R44|Q4G1C7|Q9Y5W6	Missense_Mutation	SNP	ENST00000376510.3	37	c.407C>T	CCDS41495.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861914	0.51482	.	.	ENSG00000148450	ENST00000376510	T	0.80304	-1.36	5.05	4.08	0.47627	Mss4-like (1);Methionine sulphoxide reductase B (3);	0.239262	0.41712	D	0.000840	D	0.89989	0.6875	M	0.86805	2.84	0.45995	D	0.998806	D	0.89917	1.0	D	0.73380	0.98	D	0.91581	0.5279	10	0.87932	D	0	-13.3469	14.1917	0.65641	0.0:0.8491:0.1509:0.0	.	136	Q9Y3D2	MSRB2_HUMAN	L	136	ENSP00000365693:S136L	ENSP00000365693:S136L	S	+	2	0	MSRB2	23448349	0.997000	0.39634	0.922000	0.36590	0.011000	0.07611	3.549000	0.53681	2.510000	0.84645	0.655000	0.94253	TCG		0.522	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1	NM_012228		25	47	0	0	0	1	0	25	47				
TRIML1	339976	broad.mit.edu	37	4	189060748	189060748	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:189060748G>A	ENST00000332517.3	+	1	176	c.36G>A	c.(34-36)gaG>gaA	p.E12E	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	12					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACCTCAGGGAGGAACTCACCT	0.527																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(34-36)gaG>gaA		tripartite motif family-like 1							142.0	137.0	139.0					4																	189060748		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060748G>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.36G>A	4.37:g.189060748G>A							p.E12E	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	176	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	12					Q96BE5	Silent	SNP	ENST00000332517.3	37	c.36G>A	CCDS3851.1																																																																																				0.527	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		26	88	0	0	0	1	0	26	88				
CD97	976	broad.mit.edu	37	19	14513434	14513434	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513434C>T	ENST00000242786.5	+	12	1289	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	CD97_ENST00000357355.3_Silent_p.S354S|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.S310S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCATCCTCTCCATCCAGAACA	0.577																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1207-1209)tcC>tcT		CD97 molecule							106.0	99.0	102.0					19																	14513434		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513434C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1209C>T	19.37:g.14513434C>T						CD97_ENST00000358600.3_Silent_p.S310S|CD97_ENST00000357355.3_Silent_p.S354S	p.S403S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			12	1289	+			403					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.1209C>T	CCDS32929.1																																																																																				0.577	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		42	69	0	0	0	1	0	42	69				
IFI27L2	83982	broad.mit.edu	37	14	94595900	94595900	+	Start_Codon_SNP	SNP	A	A	G	rs376561007		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94595900A>G	ENST00000238609.3	-	1	101	c.2T>C	c.(1-3)aTg>aCg	p.M1T	IFI27L2_ENST00000556727.1_Intron	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	1						integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						CTCACTCATCATGGTGAGGCC	0.627																																						ENST00000238609.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						c.(1-3)aTg>aCg		interferon, alpha-inducible protein 27-like 2			THR/MET	0,4406		0,0,2203	69.0	66.0	67.0		2	1.6	0.0	14		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFI27L2	NM_032036.2	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	1/131	94595900	1,13005	2203	4300	6503	SO:0001582	initiator_codon_variant	83982					integral to membrane		g.chr14:94595900A>G	AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"""family with sequence similarity 14, member A"""	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.2T>C	14.37:g.94595900A>G	ENSP00000238609:p.Met1Thr					IFI27L2_ENST00000556727.1_Intron	p.M1T	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN			1	101	-			1					Q8TBD7|Q9NYL0	Translation_Start_Site	SNP	ENST00000238609.3	37	c.2T>C	CCDS9920.1	.	.	.	.	.	.	.	.	.	.	a	8.692	0.907556	0.17833	0.0	1.16E-4	ENSG00000119632	ENST00000238609	T	0.31247	1.5	1.56	1.56	0.23342	.	0.748436	0.09733	U	0.762896	T	0.44074	0.1276	.	.	.	0.22240	N	0.99927	P	0.48350	0.909	P	0.60789	0.879	T	0.23511	-1.0186	9	0.66056	D	0.02	.	5.2528	0.15531	1.0:0.0:0.0:0.0	.	1	Q9H2X8	I27L2_HUMAN	T	1	ENSP00000238609:M1T	ENSP00000238609:M1T	M	-	2	0	IFI27L2	93665653	0.031000	0.19500	0.020000	0.16555	0.007000	0.05969	0.302000	0.19192	0.988000	0.38734	0.444000	0.29173	ATG		0.627	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036	Missense_Mutation	26	47	0	0	0	1	0	26	47				
RFPL2	10739	broad.mit.edu	37	22	32586942	32586942	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:32586942G>A	ENST00000400237.1	-	5	1889	c.954C>T	c.(952-954)tcC>tcT	p.S318S	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Silent_p.S228S|RFPL2_ENST00000248983.4_Silent_p.S228S|RFPL2_ENST00000248980.4_Silent_p.S257S			O75678	RFPL2_HUMAN	ret finger protein-like 2	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CATCAAAAAAGGAAACGTTCT	0.512																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(682-684)tcC>tcT		ret finger protein-like 2							48.0	64.0	59.0					22																	32586942		2203	4298	6501	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32586942G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.954C>T	22.37:g.32586942G>A						RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.S228S|RFPL2_ENST00000400237.1_Silent_p.S318S|RFPL2_ENST00000248980.4_Silent_p.S257S	p.S228S	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			5	1889	-			318			B30.2/SPRY.			Silent	SNP	ENST00000400237.1	37	c.684C>T	CCDS43009.2																																																																																				0.512	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		13	45	0	0	0	1	0	13	45				
KIAA1324L	222223	broad.mit.edu	37	7	86539170	86539170	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:86539170C>T	ENST00000450689.2	-	16	2502	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A606T|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A702T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A533T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	773						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GATGATAAGGCTGCTCGGAAA	0.368																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2317-2319)Gcc>Acc		KIAA1324-like							155.0	150.0	152.0					7																	86539170		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86539170C>T	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2317G>A	7.37:g.86539170C>T	ENSP00000413445:p.Ala773Thr					KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A702T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A606T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A533T	p.A773T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			16	2502	-	Esophageal squamous(14;0.0058)		773					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2317G>A	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.692915|4.692915	0.88735|0.88735	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.17691|.	2.55;2.29;2.26;2.3|.	5.87|5.87	5.87|5.87	0.94306|0.94306	Mannose-6-phosphate receptor, binding (1);|.	0.045590|.	0.85682|.	D|.	0.000000|.	T|T	0.73133|0.73133	0.3548|0.3548	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51537|.	0.365;0.946;0.946|.	B;P;P|.	0.48840|.	0.09;0.592;0.453|.	T|T	0.68849|0.68849	-0.5300|-0.5300	10|5	0.27785|.	T|.	0.31|.	.|.	19.2063|19.2063	0.93732|0.93732	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	773;533;606|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	T|N	773;533;702;606|733	ENSP00000413445:A773T;ENSP00000297222:A533T;ENSP00000397377:A702T;ENSP00000402390:A606T|.	ENSP00000297222:A533T|.	A|S	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86377106|86377106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.368	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		62	83	0	0	0	1	0	62	83				
WDR43	23160	broad.mit.edu	37	2	29158443	29158443	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:29158443C>T	ENST00000407426.3	+	12	1550	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TAAGGATGCCCCTGCATACTA	0.333																																						ENST00000407426.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1492-1494)ccC>ccT		WD repeat domain 43							116.0	109.0	111.0					2																	29158443		1827	4081	5908	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29158443C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1494C>T	2.37:g.29158443C>T							p.P498P	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			12	1550	+	Acute lymphoblastic leukemia(172;0.155)		498					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1494C>T	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	1.002	-0.690597	0.03303	.	.	ENSG00000163811	ENST00000446643	.	.	.	5.66	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55798	-0.8084	6	0.59425	D	0.04	-8.9694	3.3461	0.07136	0.2099:0.299:0.3908:0.1003	.	.	.	.	L	50	.	ENSP00000406083:P50L	P	+	2	0	WDR43	29011947	0.992000	0.36948	1.000000	0.80357	0.086000	0.17979	0.189000	0.17037	0.827000	0.34685	-0.175000	0.13238	CCC		0.333	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		25	44	0	0	0	1	0	25	44				
FAM78A	286336	broad.mit.edu	37	9	134136313	134136313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:134136313G>A	ENST00000372271.3	-	2	1115	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	250										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		GCGCTGGGCGGGATGGGCTCA	0.687																																						ENST00000372271.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(748-750)Ccg>Tcg		family with sequence similarity 78, member A							88.0	93.0	91.0					9																	134136313		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136313G>A	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.748C>T	9.37:g.134136313G>A	ENSP00000361345:p.Pro250Ser					FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR	p.P250S	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	1115	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	250					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.748C>T	CCDS6941.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682780	0.47991	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	D;D;D	0.95342	-3.68;-3.68;-3.68	4.63	4.63	0.57726	.	0.049204	0.85682	D	0.000000	D	0.93612	0.7960	M	0.75777	2.31	0.80722	D	1	B;P	0.48503	0.291;0.911	B;B	0.39840	0.072;0.311	D	0.94848	0.8011	10	0.87932	D	0	-26.4943	16.8258	0.85930	0.0:0.0:1.0:0.0	.	250;247	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	S	247;250;219	ENSP00000361343:P247S;ENSP00000361345:P250S;ENSP00000419959:P219S	ENSP00000361343:P247S	P	-	1	0	FAM78A	133126134	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	6.688000	0.74557	2.272000	0.75746	0.313000	0.20887	CCG		0.687	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		92	20	0	0	0	1	0	92	20				
SNHG14	104472715	broad.mit.edu	37	15	25474168	25474168	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:25474168C>T	ENST00000453082.2	+	0	1370				SNORD115-32_ENST00000364079.1_RNA|SNORD115-33_ENST00000363723.1_RNA|SNORD115-31_ENST00000365318.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTTAAAAATCATGTTCAATA	0.488																																						ENST00000453082.2																			0																				321.0	350.0	341.0					15																	25474168		874	1991	2865			104472715							g.chr15:25474168C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25474168C>T						SNORD115-32_ENST00000364079.1_RNA		NR_003343.1						0	1370	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.488	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			103	161	0	0	0	1	0	103	161				
PDGFD	80310	broad.mit.edu	37	11	103866938	103866938	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866938G>A	ENST00000393158.2	-	3	544	c.365C>T	c.(364-366)aCc>aTc	p.T122I	PDGFD_ENST00000302251.5_Missense_Mutation_p.T116I			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AATGGTACTGGTTTCGGATAT	0.343																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(346-348)aCc>aTc		platelet derived growth factor D							129.0	118.0	122.0					11																	103866938		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103866938G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.365C>T	11.37:g.103866938G>A	ENSP00000376865:p.Thr122Ile					PDGFD_ENST00000393158.2_Missense_Mutation_p.T122I	p.T116I	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	3	798	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	122			CUB.		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.347C>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270506	0.23221	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.18338	2.22;2.22;2.22	5.67	4.73	0.59995	CUB (5);	0.052984	0.64402	D	0.000001	T	0.15349	0.0370	L	0.39692	1.235	0.53688	D	0.999972	B;B	0.19200	0.034;0.003	B;B	0.23018	0.043;0.004	T	0.03739	-1.1008	10	0.40728	T	0.16	-11.5517	10.6885	0.45856	0.0713:0.1336:0.7951:0.0	.	122;116	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	I	122;116;145	ENSP00000376865:T122I;ENSP00000302193:T116I;ENSP00000432909:T145I	ENSP00000302193:T116I	T	-	2	0	PDGFD	103372148	1.000000	0.71417	0.992000	0.48379	0.235000	0.25334	5.434000	0.66526	1.346000	0.45694	0.655000	0.94253	ACC		0.343	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		16	33	0	0	0	1	0	16	33				
NPHS1	4868	broad.mit.edu	37	19	36333131	36333131	+	Missense_Mutation	SNP	C	C	A	rs386833919		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36333131C>A	ENST00000378910.5	-	19	2557	c.2558G>T	c.(2557-2559)gGa>gTa	p.G853V	NPHS1_ENST00000353632.6_Missense_Mutation_p.G853V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	853	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGTGCTGTCTCCAGCTGCAGC	0.592																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	GRCh37	CD082162	NPHS1	D		c.(2557-2559)gGa>gTa		nephrosis 1, congenital, Finnish type (nephrin)							26.0	26.0	26.0					19																	36333131		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333131C>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2558G>T	19.37:g.36333131C>A	ENSP00000368190:p.Gly853Val					NPHS1_ENST00000353632.6_Missense_Mutation_p.G853V	p.G853V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		19	2557	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		853			Ig-like C2-type 8.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2558G>T	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010133	0.75046	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78595	-1.19;-1.18	4.71	4.71	0.59529	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86883	0.6040	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88331	0.2968	10	0.87932	D	0	-13.4299	15.2734	0.73723	0.0:1.0:0.0:0.0	.	853	O60500	NPHN_HUMAN	V	853	ENSP00000368190:G853V;ENSP00000343634:G853V	ENSP00000343634:G853V	G	-	2	0	NPHS1	41024971	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.600000	0.67599	2.479000	0.83701	0.558000	0.71614	GGA		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			6	14	1	0	3.59834e-05	1	3.61239e-05	6	14				
NPAS4	266743	broad.mit.edu	37	11	66190641	66190641	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66190641C>T	ENST00000311034.2	+	5	922	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	249	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTTTGTAAATCATGGTATGGA	0.537																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(745-747)tCa>tTa		neuronal PAS domain protein 4							123.0	94.0	103.0					11																	66190641		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190641C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.746C>T	11.37:g.66190641C>T	ENSP00000311196:p.Ser249Leu						p.S249L	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			5	922	+			249			PAS 2.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.746C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383655	0.95967	.	.	ENSG00000174576	ENST00000311034	T	0.21734	1.99	5.65	5.65	0.86999	PAS fold-3 (1);PAS (2);	0.000000	0.45126	D	0.000392	T	0.49830	0.1580	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51325	-0.8720	10	0.87932	D	0	-7.1466	17.2303	0.86983	0.0:1.0:0.0:0.0	.	249	Q8IUM7	NPAS4_HUMAN	L	249	ENSP00000311196:S249L	ENSP00000311196:S249L	S	+	2	0	NPAS4	65947217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.148000	0.77389	2.661000	0.90470	0.650000	0.86243	TCA		0.537	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		4	11	0	0	0	1	0	4	11				
E2F4	1874	broad.mit.edu	37	16	67228767	67228767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67228767C>T	ENST00000379378.3	+	6	751	c.692C>T	c.(691-693)cCt>cTt	p.P231L		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	231					blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CTGCCCAAGCCTGCCCTAGCC	0.607																																						ENST00000379378.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11						c.(691-693)cCt>cTt		E2F transcription factor 4, p107/p130-binding							107.0	99.0	102.0					16																	67228767		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67228767C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.692C>T	16.37:g.67228767C>T	ENSP00000368686:p.Pro231Leu						p.P231L	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	6	751	+		Ovarian(137;0.0563)	231					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.692C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260781	0.39995	.	.	ENSG00000205250	ENST00000379378	D	0.85013	-1.93	5.91	3.83	0.44106	.	0.152997	0.64402	D	0.000014	T	0.80330	0.4603	L	0.53249	1.67	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.76613	-0.2895	10	0.48119	T	0.1	-4.0427	9.6106	0.39661	0.0:0.8209:0.0:0.1791	.	231	Q16254	E2F4_HUMAN	L	231	ENSP00000368686:P231L	ENSP00000368686:P231L	P	+	2	0	E2F4	65786268	0.013000	0.17824	0.983000	0.44433	0.134000	0.20937	1.705000	0.37867	1.381000	0.46364	0.655000	0.94253	CCT		0.607	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		24	48	0	0	0	1	0	24	48				
TLN1	7094	broad.mit.edu	37	9	35711042	35711042	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35711042A>C	ENST00000314888.9	-	31	4410	c.4057T>G	c.(4057-4059)Tgc>Ggc	p.C1353G	TLN1_ENST00000540444.1_Missense_Mutation_p.C1353G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1353	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGGGTGCACATAGTGATG	0.517																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(4057-4059)Tgc>Ggc		talin 1							104.0	96.0	99.0					9																	35711042		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35711042A>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4057T>G	9.37:g.35711042A>C	ENSP00000316029:p.Cys1353Gly					TLN1_ENST00000540444.1_Missense_Mutation_p.C1353G	p.C1353G	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		31	4410	-	all_epithelial(49;0.167)		1353			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.4057T>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.389318	0.82902	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13196	2.61;2.61	5.85	5.85	0.93711	.	0.044585	0.85682	D	0.000000	T	0.41650	0.1168	M	0.84846	2.72	0.80722	D	1	D	0.63880	0.993	D	0.64410	0.925	T	0.43782	-0.9370	10	0.72032	D	0.01	-9.126	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1353	Q9Y490	TLN1_HUMAN	G	1353	ENSP00000316029:C1353G;ENSP00000442981:C1353G	ENSP00000316029:C1353G	C	-	1	0	TLN1	35701042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.233000	0.73108	0.533000	0.62120	TGC		0.517	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		23	21	0	0	0	1	0	23	21				
PLXND1	23129	broad.mit.edu	37	3	129292537	129292537	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:129292537C>T	ENST00000324093.4	-	13	2915	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	PLXND1_ENST00000393239.1_Missense_Mutation_p.G913R	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	913	IPT/TIG 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGGTTCCTTCCTCGGATGGTC	0.657																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(2737-2739)Gga>Aga		plexin D1							50.0	45.0	47.0					3																	129292537		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129292537C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2737G>A	3.37:g.129292537C>T	ENSP00000317128:p.Gly913Arg					PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R	p.G913R			Q9Y4D7	PLXD1_HUMAN			13	2915	-			913			IPT/TIG 1.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.2737G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200919	0.94997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	D;D	0.98164	-4.76;-4.76	4.78	4.78	0.61160	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062950	0.64402	D	0.000007	D	0.99269	0.9745	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	913	Q9Y4D7	PLXD1_HUMAN	R	913	ENSP00000317128:G913R;ENSP00000376931:G913R	ENSP00000317128:G913R	G	-	1	0	PLXND1	130775227	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	7.150000	0.77403	2.378000	0.81104	0.655000	0.94253	GGA		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		15	22	0	0	0	1	0	15	22				
ITGA2B	3674	broad.mit.edu	37	17	42457388	42457388	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42457388G>A	ENST00000262407.5	-	17	1765	c.1734C>T	c.(1732-1734)acC>acT	p.T578T	ITGA2B_ENST00000353281.4_Silent_p.T578T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	578					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGGCCATGGTGGTGTGGCAGA	0.642																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1732-1734)acC>acT		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						47.0	48.0	48.0					17																	42457388		2200	4292	6492	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457388G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1734C>T	17.37:g.42457388G>A						ITGA2B_ENST00000353281.4_Silent_p.T578T	p.T578T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	17	1765	-		Prostate(33;0.0181)	578					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.1734C>T	CCDS32665.1																																																																																				0.642	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			18	22	0	0	0	1	0	18	22				
TMEM115	11070	broad.mit.edu	37	3	50392780	50392780	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50392780C>T	ENST00000266025.3	-	2	1596	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	350					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGAGTTACAGCGTCGGGGGAG	0.632																																						ENST00000266025.3																			0				breast(2)|endometrium(1)|lung(1)|prostate(1)	5						c.(1048-1050)acG>acA		transmembrane protein 115							42.0	42.0	42.0					3																	50392780		2203	4300	6503	SO:0001819	synonymous_variant	11070				negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus		g.chr3:50392780C>T	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.1050G>A	3.37:g.50392780C>T						XXcos-LUCA11.5_ENST00000606589.1_Intron	p.T350T	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1596	-			350					A2IDB7|O14568|Q6IAY4|Q9UIX3	Silent	SNP	ENST00000266025.3	37	c.1050G>A	CCDS2828.1																																																																																				0.632	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024		6	47	0	0	0	1	0	6	47				
TSPAN11	441631	broad.mit.edu	37	12	31116808	31116808	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31116808G>A	ENST00000261177.9	+	3	191	c.132G>A	c.(130-132)gaG>gaA	p.E44E	TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Silent_p.E44E|TSPAN11_ENST00000544427.1_Silent_p.E34E	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	44						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCTGGTGGAGAAGAGTGGCT	0.667																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(130-132)gaG>gaA		tetraspanin 11							101.0	87.0	92.0					12																	31116808		2203	4300	6503	SO:0001819	synonymous_variant	441631					integral to membrane		g.chr12:31116808G>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.132G>A	12.37:g.31116808G>A						TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Silent_p.E34E|TSPAN11_ENST00000546076.1_Silent_p.E44E	p.E44E	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			3	191	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		44					A1L158|B2RUX6	Silent	SNP	ENST00000261177.9	37	c.132G>A	CCDS31765.1																																																																																				0.667	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		45	74	0	0	0	1	0	45	74				
OR13F1	138805	broad.mit.edu	37	9	107266939	107266939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:107266939C>T	ENST00000334726.2	+	1	485	c.396C>T	c.(394-396)taC>taT	p.Y132Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTGAGATACCCTGTCATCA	0.547																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(394-396)taC>taT		olfactory receptor, family 13, subfamily F, member 1							93.0	82.0	86.0					9																	107266939		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266939C>T		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.396C>T	9.37:g.107266939C>T							p.Y132Y	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	485	+			132					Q6IF50	Silent	SNP	ENST00000334726.2	37	c.396C>T	CCDS35087.1																																																																																				0.547	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			40	11	0	0	0	1	0	40	11				
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	C	T	rs139951414	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141459360C>T	ENST00000389484.3	-	40	7328	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2119					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGGTTATCGTTTCTGTGG	0.413										TSP Lung(27;0.18)			C|||	4	0.000798722	0.0	0.0	5008	,	,		17682	0.0		0.004	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6355-6357)acG>acA		low density lipoprotein receptor-related protein 1B		C		4,4402	9.9+/-24.2	0,4,2199	178.0	161.0	167.0		6357	-10.5	0.0	2	dbSNP_134	167	60,8540	37.4+/-92.8	1,58,4241	no	coding-synonymous	LRP1B	NM_018557.2		1,62,6440	TT,TC,CC		0.6977,0.0908,0.4921		2119/4600	141459360	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459360C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6357G>A	2.37:g.141459360C>T		TSP Lung(27;0.18)					p.T2119T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	40	7328	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2119					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.6357G>A	CCDS2182.1																																																																																				0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		24	52	0	0	0	1	0	24	52				
KIAA1324	57535	broad.mit.edu	37	1	109735408	109735408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109735408C>T	ENST00000369939.3	+	14	2042	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S533F	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	620					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACCTGCCACTCCTGCCCCACT	0.552																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1858-1860)tCc>tTc		KIAA1324							147.0	144.0	145.0					1																	109735408		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109735408C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1859C>T	1.37:g.109735408C>T	ENSP00000358955:p.Ser620Phe					KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S533F	p.S620F	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	14	2042	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	620					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.1859C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551265	0.45383	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.63580	-0.05;-0.05;-0.05	4.81	2.9	0.33743	Growth factor, receptor (1);	0.578181	0.20098	N	0.099298	T	0.36496	0.0969	L	0.29908	0.895	0.31814	N	0.626823	B;P;B;B	0.45715	0.318;0.865;0.318;0.318	B;P;B;B	0.46275	0.299;0.51;0.299;0.299	T	0.26950	-1.0088	10	0.72032	D	0.01	-8.7387	7.4489	0.27227	0.0:0.7216:0.0:0.2784	.	620;533;620;620	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	F	620;570;533	ENSP00000358955:S620F;ENSP00000393964:S570F;ENSP00000434595:S533F	ENSP00000358955:S620F	S	+	2	0	KIAA1324	109536931	0.000000	0.05858	0.973000	0.42090	0.490000	0.33462	0.227000	0.17795	0.717000	0.32145	0.650000	0.86243	TCC		0.552	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		32	90	0	0	0	1	0	32	90				
NDUFAF7	55471	broad.mit.edu	37	2	37473323	37473323	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:37473323G>A	ENST00000002125.4	+	8	961	c.921G>A	c.(919-921)aaG>aaA	p.K307K	NDUFAF7_ENST00000336237.6_Silent_p.K209K|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	307					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										ATGGAACAAAGACAGATACCT	0.403																																						ENST00000002125.4																			0											c.(919-921)aaG>aaA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7							167.0	140.0	149.0					2																	37473323		2203	4300	6503	SO:0001819	synonymous_variant	55471							g.chr2:37473323G>A		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.921G>A	2.37:g.37473323G>A						NDUFAF7_ENST00000336237.6_Silent_p.K209K|NDUFAF7_ENST00000483999.1_3'UTR	p.K307K	NM_144736.4	NP_653337.1					8	961	+								Q7Z399|Q9P1G3	Silent	SNP	ENST00000002125.4	37	c.921G>A	CCDS1788.1																																																																																				0.403	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		25	48	0	0	0	1	0	25	48				
USP24	23358	broad.mit.edu	37	1	55559721	55559721	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55559721G>A	ENST00000294383.6	-	52	6242	c.6243C>T	c.(6241-6243)tcC>tcT	p.S2081S	USP24_ENST00000407756.1_Silent_p.S1921S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2081					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGGGCCGAGGGGATGACTGAG	0.438																																						ENST00000294383.6																			0				breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(6241-6243)tcC>tcT		ubiquitin specific peptidase 24							76.0	68.0	70.0					1																	55559721		1829	4088	5917	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55559721G>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6243C>T	1.37:g.55559721G>A						USP24_ENST00000407756.1_Silent_p.S1921S	p.S2081S	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN			52	6242	-			2081					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.6243C>T	CCDS44154.2																																																																																				0.438	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			8	18	0	0	0	1	0	8	18				
IL13RA2	3598	broad.mit.edu	37	X	114239801	114239801	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:114239801T>C	ENST00000371936.1	-	10	1324	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	IL13RA2_ENST00000243213.1_Missense_Mutation_p.T359A			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	359					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGCAGACCGGTTACAAATATA	0.353																																						ENST00000371936.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1075-1077)Acc>Gcc		interleukin 13 receptor, alpha 2							73.0	68.0	70.0					X																	114239801		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114239801T>C	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1075A>G	X.37:g.114239801T>C	ENSP00000361004:p.Thr359Ala					IL13RA2_ENST00000243213.1_Missense_Mutation_p.T359A	p.T359A			Q14627	I13R2_HUMAN			10	1324	-			359					A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.1075A>G	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	T	4.111	0.018717	0.07959	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89810	-2.57;-2.57	3.83	1.29	0.21616	.	3.677650	0.00424	N	0.000065	D	0.85221	0.5647	L	0.48362	1.52	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64175	-0.6469	10	0.23302	T	0.38	-2.0E-4	7.2801	0.26306	0.0:0.0:0.4759:0.5241	.	359	Q14627	I13R2_HUMAN	A	359	ENSP00000361004:T359A;ENSP00000243213:T359A	ENSP00000243213:T359A	T	-	1	0	IL13RA2	114146057	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.157000	0.10085	0.150000	0.19136	0.417000	0.27973	ACC		0.353	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		48	53	0	0	0	1	0	48	53				
LPAR5	57121	broad.mit.edu	37	12	6729643	6729643	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6729643C>T	ENST00000329858.4	-	2	1528	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CGCAGCAGCCCGTAGACCGCC	0.692																																					NSCLC(74;891 2312 37538)	ENST00000329858.4																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(772-774)Ggg>Agg		lysophosphatidic acid receptor 5							11.0	9.0	9.0					12																	6729643		2142	4169	6311	SO:0001583	missense	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729643C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.772G>A	12.37:g.6729643C>T	ENSP00000327875:p.Gly258Arg					LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R|LPAR5_ENST00000540335.1_5'UTR	p.G258R	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN			2	1528	-			258						Missense_Mutation	SNP	ENST00000329858.4	37	c.772G>A	CCDS8553.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587896	0.66105	.	.	ENSG00000184574	ENST00000329858;ENST00000431922;ENST00000435659	T;T	0.36699	1.24;1.24	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.59689	0.2212	M	0.75615	2.305	0.38565	D	0.949819	D	0.89917	1.0	D	0.78314	0.991	T	0.59632	-0.7418	10	0.25751	T	0.34	.	17.8964	0.88890	0.0:1.0:0.0:0.0	.	258	Q9H1C0	LPAR5_HUMAN	R	258	ENSP00000327875:G258R;ENSP00000393098:G258R	ENSP00000327875:G258R	G	-	1	0	LPAR5	6599904	0.950000	0.32346	1.000000	0.80357	0.675000	0.39556	1.926000	0.40084	2.466000	0.83321	0.491000	0.48974	GGG		0.692	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		3	4	0	0	0	1	0	3	4				
ST6GALNAC3	256435	broad.mit.edu	37	1	76878004	76878004	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:76878004G>A	ENST00000328299.3	+	3	673	c.525G>A	c.(523-525)aaG>aaA	p.K175K	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	175					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGTTGAAAAAGACAGTTGGTA	0.398																																						ENST00000328299.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(523-525)aaG>aaA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3							106.0	103.0	104.0					1																	76878004		2203	4300	6503	SO:0001819	synonymous_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76878004G>A		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.525G>A	1.37:g.76878004G>A						ST6GALNAC3_ENST00000464140.1_3'UTR	p.K175K	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN			3	673	+			175					Q6PCE0|Q6UX29|Q8N259	Silent	SNP	ENST00000328299.3	37	c.525G>A	CCDS672.1																																																																																				0.398	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		16	60	0	0	0	1	0	16	60				
IGKV3-7	28915	broad.mit.edu	37	2	89278455	89278455	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:89278455C>T	ENST00000390247.2	-	0	145									immunoglobulin kappa variable 3-7 (non-functional)																		TTCCCCTCACCTGGGAGCCAG	0.498																																						ENST00000390247.2																			0																				90.0	90.0	90.0					2																	89278455		1845	4083	5928			28915							g.chr2:89278455C>T	X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278455C>T														0	145	-									RNA	SNP	ENST00000390247.2	37																																																																																						0.498	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323360.1	NG_000834		26	53	0	0	0	1	0	26	53				
SLC12A9	56996	broad.mit.edu	37	7	100459377	100459377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100459377C>T	ENST00000354161.3	+	12	1680	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	SLC12A9_ENST00000415287.1_Missense_Mutation_p.R430W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R430W|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R519W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	519					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTATCTGCTTCGGCTGGACGT	0.647																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1555-1557)Cgg>Tgg		solute carrier family 12, member 9							91.0	91.0	91.0					7																	100459377		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459377C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1555C>T	7.37:g.100459377C>T	ENSP00000275730:p.Arg519Trp					SLC12A9_ENST00000428758.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R430W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R430W	p.R519W	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			12	1680	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		519					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1555C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425045	0.62733	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.56	1.51	0.23008	Amino acid permease domain (1);	0.271361	0.35262	N	0.003325	D	0.98302	0.9437	L	0.58810	1.83	0.33432	D	0.581306	D;D	0.89917	0.999;1.0	P;D	0.73708	0.894;0.981	D	0.98113	1.0421	10	0.87932	D	0	.	7.4352	0.27152	0.426:0.4958:0.0:0.0782	.	430;519	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	W	519;519;430;430;519;145	ENSP00000443702:R519W;ENSP00000408301:R519W;ENSP00000275729:R430W;ENSP00000413796:R430W;ENSP00000275730:R519W	ENSP00000275729:R430W	R	+	1	2	SLC12A9	100297313	1.000000	0.71417	0.936000	0.37596	0.787000	0.44495	2.043000	0.41231	0.237000	0.21200	-0.534000	0.04291	CGG		0.647	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		61	95	0	0	0	1	0	61	95				
DIAPH2	1730	broad.mit.edu	37	X	96136647	96136647	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:96136647G>A	ENST00000324765.8	+	5	864	c.517G>A	c.(517-519)Ggt>Agt	p.G173S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.G173S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G169S|RPA4_ENST00000373040.3_5'Flank|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G173S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	173	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATTACGATCGGGTATATCAGA	0.383																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(517-519)Ggt>Agt		diaphanous-related formin 2							83.0	75.0	78.0					X																	96136647		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96136647G>A	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.517G>A	X.37:g.96136647G>A	ENSP00000321348:p.Gly173Ser					DIAPH2_ENST00000373061.3_Missense_Mutation_p.G173S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G169S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G173S	p.G173S			O60879	DIAP2_HUMAN			5	864	+			173			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.517G>A	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340770	0.81911	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.44	5.44	0.79542	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.94807	0.8323	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.94353	0.7581	10	0.41790	T	0.15	.	18.3408	0.90304	0.0:0.0:1.0:0.0	.	173;173;180	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	S	173;169;173;173;173;180	ENSP00000362152:G173S;ENSP00000362145:G169S;ENSP00000348082:G173S;ENSP00000362140:G173S;ENSP00000321348:G173S	ENSP00000321348:G173S	G	+	1	0	DIAPH2	96023303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.524000	0.81866	2.270000	0.75569	0.594000	0.82650	GGT		0.383	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		30	44	0	0	0	1	0	30	44				
PAPD4	167153	broad.mit.edu	37	5	78977832	78977832	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:78977832G>A	ENST00000296783.3	+	15	1627	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	PAPD4_ENST00000423041.2_Missense_Mutation_p.R439K|PAPD4_ENST00000504233.1_Missense_Mutation_p.R400K|PAPD4_ENST00000428308.2_Missense_Mutation_p.R443K|PAPD4_ENST00000453514.1_Missense_Mutation_p.R443K			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	443					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AATACAGCCAGAGCAGTGCAC	0.313																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1327-1329)aGa>aAa		PAP associated domain containing 4							66.0	65.0	65.0					5																	78977832		2203	4299	6502	SO:0001583	missense	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78977832G>A	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.1328G>A	5.37:g.78977832G>A	ENSP00000296783:p.Arg443Lys					PAPD4_ENST00000296783.3_Missense_Mutation_p.R443K|PAPD4_ENST00000504233.1_Missense_Mutation_p.R400K|PAPD4_ENST00000423041.2_Missense_Mutation_p.R439K|PAPD4_ENST00000428308.2_Missense_Mutation_p.R443K	p.R443K	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	14	2021	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	443					Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	c.1328G>A	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841572	0.91197	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.92	5.92	0.95590	.	0.130971	0.64402	D	0.000002	T	0.63954	0.2555	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.76494	0.989;0.997;0.999	P;D;D	0.69824	0.878;0.966;0.957	T	0.54302	-0.8314	10	0.11182	T	0.66	-12.5414	18.4957	0.90864	0.0:0.0:1.0:0.0	.	443;439;400	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	K	443;439;400;443;443	ENSP00000397563:R443K;ENSP00000393412:R439K;ENSP00000421966:R400K;ENSP00000396861:R443K;ENSP00000296783:R443K	ENSP00000296783:R443K	R	+	2	0	PAPD4	79013588	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.336000	0.79245	2.809000	0.96659	0.467000	0.42956	AGA		0.313	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		13	19	0	0	0	1	0	13	19				
PIWIL2	55124	broad.mit.edu	37	8	22173807	22173807	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:22173807G>A	ENST00000454009.2	+	19	2767	c.2258G>A	c.(2257-2259)gGc>gAc	p.G753D	PIWIL2_ENST00000356766.6_Missense_Mutation_p.G753D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753D	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	753	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCAGTAGAGGCATGCGCTCC	0.418																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2257-2259)gGc>gAc		piwi-like RNA-mediated gene silencing 2							147.0	130.0	135.0					8																	22173807		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22173807G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2258G>A	8.37:g.22173807G>A	ENSP00000406956:p.Gly753Asp					PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753D	p.G753D	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	19	2406	+			753			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2258G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777137	0.70107	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15256	2.44;2.44;2.44	5.28	5.28	0.74379	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.287528	0.40144	N	0.001165	T	0.23289	0.0563	L	0.37800	1.135	0.39571	D	0.969274	P;P	0.45986	0.594;0.87	B;P	0.48873	0.27;0.593	T	0.00832	-1.1548	10	0.39692	T	0.17	-0.1065	18.0477	0.89337	0.0:0.0:1.0:0.0	.	753;753	E7ECA4;Q8TC59	.;PIWL2_HUMAN	D	753	ENSP00000349208:G753D;ENSP00000428267:G753D;ENSP00000406956:G753D	ENSP00000349208:G753D	G	+	2	0	PIWIL2	22229752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.701000	0.47094	2.607000	0.88179	0.655000	0.94253	GGC		0.418	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			10	26	0	0	0	1	0	10	26				
NLRP9	338321	broad.mit.edu	37	19	56244734	56244734	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56244734C>T	ENST00000332836.2	-	2	490	c.463G>A	c.(463-465)Gga>Aga	p.G155R		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	155	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCAATTCCATCAGGACCT	0.413																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(463-465)Gga>Aga		NLR family, pyrin domain containing 9							83.0	78.0	80.0					19																	56244734		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244734C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.463G>A	19.37:g.56244734C>T	ENSP00000331857:p.Gly155Arg						p.G155R	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	490	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	155			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.463G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777186	0.49786	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.99113	-5.44	2.63	2.63	0.31362	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.99351	0.9772	M	0.92367	3.3	0.19945	N	0.99994	D	0.89917	1.0	D	0.97110	1.0	D	0.95685	0.8735	9	0.87932	D	0	.	11.4934	0.50394	0.0:1.0:0.0:0.0	.	155	Q7RTR0	NALP9_HUMAN	R	155	ENSP00000331857:G155R	ENSP00000331857:G155R	G	-	1	0	NLRP9	60936546	0.726000	0.28059	0.006000	0.13384	0.003000	0.03518	3.307000	0.51888	1.817000	0.53016	0.644000	0.83932	GGA		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		29	45	0	0	0	1	0	29	45				
COL6A3	1293	broad.mit.edu	37	2	238266485	238266485	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238266485C>T	ENST00000295550.4	-	22	6964	c.6512G>A	c.(6511-6513)gGa>gAa	p.G2171E	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1965E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1564E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1971E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1970E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1965E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2171	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCGGTTTCTCCTTTGGGTCC	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(6511-6513)gGa>gAa		collagen, type VI, alpha 3							295.0	259.0	272.0					2																	238266485		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266485C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6512G>A	2.37:g.238266485C>T	ENSP00000295550:p.Gly2171Glu					COL6A3_ENST00000472056.1_Missense_Mutation_p.G1564E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1965E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1970E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1965E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1971E	p.G2171E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	22	6964	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2171			Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.6512G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098232	0.56183	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.99353	-4.61;-5.77;-4.61;-4.61;-4.61;-5.77	5.46	5.46	0.80206	.	0.000000	0.47852	D	0.000208	D	0.99704	0.9887	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97306	0.9934	10	0.87932	D	0	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	1564;1965;2171	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	E	2171;1970;1965;1564;1965;1971	ENSP00000295550:G2171E;ENSP00000315609:G1970E;ENSP00000315873:G1965E;ENSP00000418285:G1564E;ENSP00000386844:G1965E;ENSP00000295546:G1971E	ENSP00000295550:G2171E	G	-	2	0	COL6A3	237931224	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.183000	0.77697	2.571000	0.86741	0.655000	0.94253	GGA		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		107	60	0	0	0	1	0	107	60				
COL15A1	1306	broad.mit.edu	37	9	101782716	101782716	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101782716G>A	ENST00000375001.3	+	12	2116	c.1693G>A	c.(1693-1695)Gga>Aga	p.G565R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	565	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGGCCCAAAGGAGAAAAGGT	0.453																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1693-1695)Gga>Aga		collagen, type XV, alpha 1							144.0	124.0	131.0					9																	101782716		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101782716G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1693G>A	9.37:g.101782716G>A	ENSP00000364140:p.Gly565Arg						p.G565R	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			12	2116	+		Acute lymphoblastic leukemia(62;0.0562)	565			Triple-helical region 1 (COL1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1693G>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	7.180	0.589324	0.13812	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.91295	-2.82	2.8	1.86	0.25419	.	1.493640	0.04378	N	0.360241	D	0.90031	0.6887	L	0.50333	1.59	0.25174	N	0.990258	P	0.47841	0.901	P	0.47673	0.554	T	0.78193	-0.2299	10	0.66056	D	0.02	.	6.9627	0.24605	0.0:0.0:0.7276:0.2724	.	565	P39059	COFA1_HUMAN	R	565;535	ENSP00000364140:G565R	ENSP00000364140:G565R	G	+	1	0	COL15A1	100822537	0.993000	0.37304	0.742000	0.31022	0.053000	0.15095	0.841000	0.27613	0.481000	0.27557	0.655000	0.94253	GGA		0.453	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		18	16	0	0	0	1	0	18	16				
DIP2B	57609	broad.mit.edu	37	12	51112497	51112497	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:51112497G>A	ENST00000301180.5	+	24	2891	c.2857G>A	c.(2857-2859)Ggc>Agc	p.G953S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	953						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACAGGTGTAGGCCCTGCTTC	0.448																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(2857-2859)Ggc>Agc		DIP2 disco-interacting protein 2 homolog B (Drosophila)							134.0	111.0	119.0					12																	51112497		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51112497G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2857G>A	12.37:g.51112497G>A	ENSP00000301180:p.Gly953Ser						p.G953S	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			24	2891	+			953					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.2857G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160081	0.94727	.	.	ENSG00000066084	ENST00000301180	T	0.25250	1.81	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.52773	0.1755	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.45659	-0.9246	10	0.25106	T	0.35	-14.4833	18.9332	0.92574	0.0:0.0:1.0:0.0	.	953	Q9P265	DIP2B_HUMAN	S	953	ENSP00000301180:G953S	ENSP00000301180:G953S	G	+	1	0	DIP2B	49398764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.174000	0.94824	2.885000	0.99019	0.655000	0.94253	GGC		0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		10	20	0	0	0	1	0	10	20				
ARAP3	64411	broad.mit.edu	37	5	141059773	141059773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:141059773G>A	ENST00000239440.4	-	2	346	c.281C>T	c.(280-282)cCc>cTc	p.P94L	ARAP3_ENST00000508305.1_Missense_Mutation_p.P16L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	94	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCGGCACGGGCTTAGGGGG	0.657																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(280-282)cCc>cTc		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							48.0	58.0	55.0					5																	141059773		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059773G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.281C>T	5.37:g.141059773G>A	ENSP00000239440:p.Pro94Leu					ARAP3_ENST00000508305.1_Missense_Mutation_p.P16L	p.P94L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			2	346	-			94			Pro-rich.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.281C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.754164	0.31046	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.79141	1.6;2.84;-1.24	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000007	T	0.80144	0.4569	L	0.27053	0.805	0.80722	D	1	B;D	0.89917	0.172;1.0	B;D	0.83275	0.058;0.996	T	0.82072	-0.0638	10	0.72032	D	0.01	.	12.2866	0.54795	0.0:0.0:1.0:0.0	.	16;94	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	L	16;16;94;94	ENSP00000421826:P16L;ENSP00000239440:P94L;ENSP00000421148:P94L	ENSP00000239440:P94L	P	-	2	0	ARAP3	141039957	0.938000	0.31826	0.996000	0.52242	0.239000	0.25481	1.379000	0.34340	2.268000	0.75426	0.456000	0.33151	CCC		0.657	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		35	49	0	0	0	1	0	35	49				
LTBP2	4053	broad.mit.edu	37	14	74995355	74995355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74995355C>T	ENST00000261978.4	-	12	2585	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	LTBP2_ENST00000556690.1_Silent_p.A733A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	733					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTCGGAGCTCGCGTAGGTGT	0.637																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2197-2199)gcG>gcA		latent transforming growth factor beta binding protein 2							42.0	42.0	42.0					14																	74995355		2203	4299	6502	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74995355C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2199G>A	14.37:g.74995355C>T						LTBP2_ENST00000556690.1_Silent_p.A733A	p.A733A	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	12	2585	-			733					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.2199G>A	CCDS9831.1																																																																																				0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		26	47	0	0	0	1	0	26	47				
ARL8B	55207	broad.mit.edu	37	3	5164241	5164241	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:5164241T>C	ENST00000256496.3	+	1	337	c.91T>C	c.(91-93)Tcg>Ccg	p.S31P	ARL8B_ENST00000419534.2_Missense_Mutation_p.S31P	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	31					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GCTGCAGTACTCGGGCAAGAC	0.667																																						ENST00000256496.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9						c.(91-93)Tcg>Ccg		ADP-ribosylation factor-like 8B							35.0	32.0	33.0					3																	5164241		2203	4300	6503	SO:0001583	missense	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5164241T>C	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.91T>C	3.37:g.5164241T>C	ENSP00000256496:p.Ser31Pro					ARL8B_ENST00000419534.2_Missense_Mutation_p.S31P	p.S31P	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	1	337	+			31					B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.91T>C	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043371	0.93685	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.65549	-0.16;-0.16	3.88	3.88	0.44766	Small GTP-binding protein domain (1);	0.137929	0.52532	D	0.000080	T	0.81884	0.4917	M	0.92268	3.29	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.994	D;D;D	0.69654	0.965;0.924;0.924	D	0.86527	0.1819	10	0.87932	D	0	-3.5701	13.0506	0.58952	0.0:0.0:0.0:1.0	.	31;31;31	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	P	31;83;31	ENSP00000256496:S31P;ENSP00000402996:S31P	ENSP00000256496:S31P	S	+	1	0	ARL8B	5139241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.809000	0.75211	1.713000	0.51359	0.402000	0.26972	TCG		0.667	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		13	23	0	0	0	1	0	13	23				
PRR12	57479	broad.mit.edu	37	19	50099936	50099936	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50099936C>T	ENST00000418929.2	+	4	2356	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCATGGCCTCCTTCTGGAGGC	0.716																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2344-2346)Ctt>Ttt		proline rich 12							11.0	14.0	13.0					19																	50099936		1819	3945	5764	SO:0001583	missense	57479						DNA binding	g.chr19:50099936C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2344C>T	19.37:g.50099936C>T	ENSP00000394510:p.Leu782Phe						p.L782F	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2356	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	477					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2344C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467805	0.26335	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	T	0.62011	0.2393	.	.	.	0.35544	D	0.803261	D	0.63046	0.992	P	0.57620	0.824	T	0.71163	-0.4673	7	0.54805	T	0.06	.	9.0431	0.36329	0.2198:0.7802:0.0:0.0	.	782	Q9ULL5-3	.	F	782	.	ENSP00000394510:L782F	L	+	1	0	PRR12	54791748	0.077000	0.21312	1.000000	0.80357	0.876000	0.50452	2.311000	0.43717	2.179000	0.69175	0.313000	0.20887	CTT		0.716	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		12	24	0	0	0	1	0	12	24				
SLC35F4	341880	broad.mit.edu	37	14	58063613	58063613	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:58063613C>T	ENST00000339762.6	-	1	2	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	1					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAGTTCATCCATGACAGACA	0.443																																						ENST00000339762.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1-3)atG>atA		solute carrier family 35, member F4							42.0	41.0	41.0					14																	58063613		1982	4166	6148	SO:0001582	initiator_codon_variant	341880							g.chr14:58063613C>T			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.3G>A	14.37:g.58063613C>T	ENSP00000342518:p.Met1Ile					SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR	p.M1I							1	2	-								A6NDQ3	Translation_Start_Site	SNP	ENST00000339762.6	37	c.3G>A		.	.	.	.	.	.	.	.	.	.	C	5.019	0.189237	0.09547	.	.	ENSG00000151812	ENST00000339762	T	0.42900	0.96	3.9	-0.206	0.13193	.	.	.	.	.	T	0.26666	0.0652	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	8	0.87932	D	0	.	0.7418	0.00975	0.1941:0.3906:0.1892:0.2261	.	1	A4IF30	S35F4_HUMAN	I	1	ENSP00000342518:M1I	ENSP00000342518:M1I	M	-	3	0	SLC35F4	57133366	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.393000	0.20817	-0.033000	0.13736	0.638000	0.83543	ATG		0.443	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	Missense_Mutation	15	21	0	0	0	1	0	15	21				
BAD	572	broad.mit.edu	37	11	64037639	64037639	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037639G>A	ENST00000394532.3	-	0	819				BAD_ENST00000309032.3_3'UTR|BAD_ENST00000544785.1_Silent_p.L120L	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TGGCTGCCCAGGGCAGTGGGA	0.597																																						ENST00000544785.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(358-360)Ctg>Ttg		BCL2-associated agonist of cell death							44.0	43.0	43.0					11																	64037639		2201	4297	6498	SO:0001624	3_prime_UTR_variant	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037639G>A	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.*42C>T	11.37:g.64037639G>A						BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR	p.L120L			Q92934	BAD_HUMAN			2	358	-			0					O14803|Q6FH21	Silent	SNP	ENST00000394532.3	37	c.358C>T	CCDS8065.1																																																																																				0.597	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		14	15	0	0	0	1	0	14	15				
ZNF512	84450	broad.mit.edu	37	2	27823643	27823643	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27823643C>T	ENST00000355467.4	+	6	626	c.543C>T	c.(541-543)acC>acT	p.T181T	ZNF512_ENST00000416005.2_Silent_p.T152T|ZNF512_ENST00000379717.1_Silent_p.T180T|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.T104T	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	181					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGAGGAAGACCATAGAGGGTT	0.423																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(541-543)acC>acT		zinc finger protein 512							110.0	104.0	106.0					2																	27823643		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27823643C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.543C>T	2.37:g.27823643C>T						ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.T180T|ZNF512_ENST00000416005.2_Silent_p.T152T|ZNF512_ENST00000413371.2_Silent_p.T104T	p.T181T			Q96ME7	ZN512_HUMAN			6	626	+	Acute lymphoblastic leukemia(172;0.155)		181					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	c.543C>T	CCDS1758.1																																																																																				0.423	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		31	47	0	0	0	1	0	31	47				
TBX19	9095	broad.mit.edu	37	1	168250508	168250508	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:168250508G>A	ENST00000367821.3	+	1	231	c.180G>A	c.(178-180)gaG>gaA	p.E60E		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	60					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCACTAATGAGATGATTGTGA	0.532																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(178-180)gaG>gaA		T-box 19							102.0	93.0	96.0					1																	168250508		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168250508G>A	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.180G>A	1.37:g.168250508G>A							p.E60E	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			1	231	+	all_hematologic(923;0.215)		60					Q52M53	Silent	SNP	ENST00000367821.3	37	c.180G>A	CCDS1272.1																																																																																				0.532	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		18	56	0	0	0	1	0	18	56				
RASAL1	8437	broad.mit.edu	37	12	113553842	113553842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:113553842G>A	ENST00000261729.5	-	10	1061	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000546530.1_Missense_Mutation_p.A249V|RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	249					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CACTCGCAGGGCACCCAGGTT	0.577																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(745-747)gCc>gTc		RAS protein activator like 1 (GAP1 like)							65.0	63.0	64.0					12																	113553842		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113553842G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.746C>T	12.37:g.113553842G>A	ENSP00000261729:p.Ala249Val					RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V	p.A249V	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			10	1031	-			249					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.746C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969868	0.74246	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	4.98	4.98	0.66077	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.231177	0.43260	D	0.000583	D	0.87557	0.6207	M	0.66939	2.045	0.45261	D	0.998265	D;D;D;D;P;P;D	0.76494	0.998;0.975;0.999;0.998;0.837;0.749;0.999	P;P;P;P;P;B;P	0.61397	0.776;0.776;0.888;0.859;0.457;0.359;0.888	D	0.89055	0.3458	10	0.87932	D	0	.	17.4003	0.87458	0.0:0.0:1.0:0.0	.	249;249;249;261;249;249;249	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	V	249	ENSP00000450244:A249V;ENSP00000261729:A249V;ENSP00000395920:A249V;ENSP00000448510:A249V	ENSP00000261729:A249V	A	-	2	0	RASAL1	112038225	1.000000	0.71417	0.923000	0.36655	0.110000	0.19582	9.149000	0.94659	2.463000	0.83235	0.484000	0.47621	GCC		0.577	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		48	18	0	0	0	1	0	48	18				
NFKBIZ	64332	broad.mit.edu	37	3	101571960	101571960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:101571960G>A	ENST00000326172.5	+	5	705	c.590G>A	c.(589-591)gGg>gAg	p.G197E	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197E|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	197					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CCAACGCCCGGGGAGAGCATG	0.438																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(589-591)gGg>gAg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							78.0	84.0	82.0					3																	101571960		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101571960G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.590G>A	3.37:g.101571960G>A	ENSP00000325663:p.Gly197Glu					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97E|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197E	p.G197E	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	705	+			197					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.590G>A	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	6.634	0.485445	0.12641	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.52057	0.72;0.68;0.72;0.75	5.6	-3.89	0.04193	.	0.760357	0.12487	N	0.464620	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	B;B	0.26258	0.145;0.138	B;B	0.26310	0.068;0.024	T	0.17653	-1.0362	10	0.23302	T	0.38	-10.0856	3.7492	0.08559	0.0744:0.2508:0.3043:0.3705	.	197;197	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	E	97;97;197;197;97	ENSP00000419800:G97E;ENSP00000377618:G97E;ENSP00000325593:G197E;ENSP00000325663:G197E	ENSP00000325593:G197E	G	+	2	0	NFKBIZ	103054650	0.018000	0.18449	0.004000	0.12327	0.697000	0.40408	0.239000	0.18023	-0.515000	0.06479	-0.181000	0.13052	GGG		0.438	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		31	50	0	0	0	1	0	31	50				
PDE5A	8654	broad.mit.edu	37	4	120481450	120481450	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:120481450C>T	ENST00000354960.3	-	7	1519		c.e7+1		PDE5A_ENST00000264805.5_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	CGTGCTTTTACCTTGTTAATG	0.308																																						ENST00000354960.3																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27						c.e7+1		phosphodiesterase 5A, cGMP-specific	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						91.0	85.0	87.0					4																	120481450		2203	4297	6500	SO:0001630	splice_region_variant	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120481450C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1199+1G>A	4.37:g.120481450C>T						PDE5A_ENST00000264805.5_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site		NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN			7	1519	-								A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Splice_Site	SNP	ENST00000354960.3	37		CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373330	0.42105	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7263	0.91714	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE5A	120700898	1.000000	0.71417	0.999000	0.59377	0.248000	0.25809	6.826000	0.75298	2.512000	0.84698	0.563000	0.77884	.		0.308	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083	Intron	14	13	0	0	0	1	0	14	13				
CDH10	1008	broad.mit.edu	37	5	24488039	24488039	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488039C>T	ENST00000264463.4	-	12	2607	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTAGGAGTCCTCCGAGGAA	0.498										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2098-2100)agG>agA		cadherin 10, type 2 (T2-cadherin)							78.0	84.0	82.0					5																	24488039		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488039C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2100G>A	5.37:g.24488039C>T		HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.R700R	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2607	-			700					Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2100G>A	CCDS3892.1																																																																																				0.498	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		33	43	0	0	0	1	0	33	43				
BZRAP1	9256	broad.mit.edu	37	17	56382996	56382996	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56382996T>A	ENST00000343736.4	-	28	5429	c.5266A>T	c.(5266-5268)Aag>Tag	p.K1756*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.K1756*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.K1696*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1756						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGACCAGCTTAGGGGGGCCT	0.612																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(5266-5268)Aag>Tag		benzodiazapine receptor (peripheral) associated protein 1							12.0	16.0	15.0					17																	56382996		2150	4258	6408	SO:0001587	stop_gained	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56382996T>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5266A>T	17.37:g.56382996T>A	ENSP00000345824:p.Lys1756*					BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.K1696*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.K1756*	p.K1756*	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			28	6136	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1756					O75111|Q8N5W3	Nonsense_Mutation	SNP	ENST00000343736.4	37	c.5266A>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199050	0.38806	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.32	-6.56	0.01848	.	2.260030	0.01390	N	0.013208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.766	0.46295	0.0:0.2589:0.5954:0.1457	.	.	.	.	X	1756;1756;1696	.	ENSP00000268893:K1696X	K	-	1	0	BZRAP1	53737995	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.073000	0.11468	-0.928000	0.03761	0.459000	0.35465	AAG		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		4	8	0	0	0	1	0	4	8				
TRPC7	57113	broad.mit.edu	37	5	135692539	135692539	+	Silent	SNP	G	G	A	rs368538016	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135692539G>A	ENST00000513104.1	-	2	819	c.537C>T	c.(535-537)atC>atT	p.I179I	TRPC7_ENST00000426057.2_Silent_p.I179I|TRPC7_ENST00000355180.3_Silent_p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	179					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGATGTGCACGATCTCATACT	0.607													G|||	3	0.000599042	0.0	0.0	5008	,	,		19856	0.0		0.001	False		,,,				2504	0.002					ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(535-537)atC>atT		transient receptor potential cation channel, subfamily C, member 7		G	,,	2,4404	2.1+/-5.4	0,2,2201	119.0	127.0	125.0		537,537,537	1.1	1.0	5		125	23,8571	16.6+/-54.9	0,23,4274	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPC7	NM_001167576.1,NM_001167577.1,NM_020389.2	,,	0,25,6475	AA,AG,GG		0.2676,0.0454,0.1923	,,	179/747,179/802,179/863	135692539	25,12975	2203	4297	6500	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692539G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.537C>T	5.37:g.135692539G>A						TRPC7_ENST00000355180.3_Silent_p.I179I|TRPC7_ENST00000426057.2_Silent_p.I179I	p.I179I	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	819	-			179					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.537C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203088	0.22121	4.54E-4	0.002676	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.26	1.08	0.20341	.	.	.	.	.	T	0.45518	0.1346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	-21.9372	3.6575	0.08226	0.5252:0.0:0.289:0.1858	.	.	.	.	C	179	.	.	R	-	1	0	TRPC7	135720438	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.217000	0.17603	0.322000	0.23283	0.650000	0.86243	CGT		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		67	88	0	0	0	1	0	67	88				
RYR2	6262	broad.mit.edu	37	1	237895414	237895414	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:237895414C>T	ENST00000366574.2	+	78	11321	c.11004C>T	c.(11002-11004)atC>atT	p.I3668I	RYR2_ENST00000542537.1_Silent_p.I3652I|RYR2_ENST00000360064.6_Silent_p.I3666I|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3668					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCAGCTGATCCTTCTGTTTA	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11002-11004)atC>atT		ryanodine receptor 2 (cardiac)							102.0	103.0	102.0					1																	237895414		1863	4087	5950	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237895414C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11004C>T	1.37:g.237895414C>T						RYR2_ENST00000360064.6_Silent_p.I3666I|RYR2_ENST00000542537.1_Silent_p.I3652I	p.I3668I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		78	11321	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3668					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11004C>T	CCDS55691.1																																																																																				0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		36	11	0	0	0	1	0	36	11				
CYP11A1	1583	broad.mit.edu	37	15	74636150	74636150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74636150C>T	ENST00000268053.6	-	4	963	c.809G>A	c.(808-810)tGg>tAg	p.W270*	CYP11A1_ENST00000358632.4_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	270					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AATCACGTCCCATGCAGCCAC	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	ENST00000358632.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(334-336)tGg>tAg		cytochrome P450, family 11, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						170.0	163.0	166.0					15																	74636150		2197	4296	6493	SO:0001587	stop_gained	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74636150C>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.809G>A	15.37:g.74636150C>T	ENSP00000268053:p.Trp270*					CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.W270*	p.W112*	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN			4	1030	-			270					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Nonsense_Mutation	SNP	ENST00000268053.6	37	c.335G>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	C	37	6.209108	0.97376	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4215	16.4873	0.84188	0.0:1.0:0.0:0.0	.	.	.	.	X	270;112;112;35	.	ENSP00000268053:W270X	W	-	2	0	CYP11A1	72423203	1.000000	0.71417	0.974000	0.42286	0.022000	0.10575	7.012000	0.76366	1.987000	0.57996	0.537000	0.68136	TGG		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			89	126	0	0	0	1	0	89	126				
FPR1	2357	broad.mit.edu	37	19	52249646	52249646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52249646C>G	ENST00000595042.1	-	3	743	c.602G>C	c.(601-603)aGa>aCa	p.R201T	FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGATGCCTCTCACCGTCAA	0.507																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(601-603)aGa>aCa		formyl peptide receptor 1	Nedocromil(DB00716)						140.0	124.0	130.0					19																	52249646		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249646C>G	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.602G>C	19.37:g.52249646C>G	ENSP00000471493:p.Arg201Thr					FPR1_ENST00000304748.4_Missense_Mutation_p.R201T	p.R201T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	743	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	201					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.602G>C	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	2.143	-0.396372	0.04899	.	.	ENSG00000171051	ENST00000304748	T	0.37058	1.22	3.66	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.443316	0.18365	N	0.143451	T	0.24699	0.0599	L	0.39467	1.215	0.26505	N	0.974693	B	0.19073	0.033	B	0.25987	0.065	T	0.16217	-1.0410	10	0.21540	T	0.41	.	5.6428	0.17572	0.3913:0.4172:0.1915:0.0	.	201	P21462	FPR1_HUMAN	T	201	ENSP00000302707:R201T	ENSP00000302707:R201T	R	-	2	0	FPR1	56941458	0.136000	0.22515	0.598000	0.28837	0.090000	0.18270	0.898000	0.28404	0.769000	0.33313	0.655000	0.94253	AGA		0.507	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		38	68	0	0	0	1	0	38	68				
UGT2B28	54490	broad.mit.edu	37	4	70146252	70146252	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:70146252A>C	ENST00000335568.5	+	1	36	c.34A>C	c.(34-36)Ata>Cta	p.I12L	UGT2B28_ENST00000511240.1_Missense_Mutation_p.I12L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	12					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCTGCTGATACATCTCGG	0.413																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(34-36)Ata>Cta		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						160.0	179.0	173.0					4																	70146252		2051	4240	6291	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146252A>C	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.34A>C	4.37:g.70146252A>C	ENSP00000334276:p.Ile12Leu					UGT2B28_ENST00000511240.1_Missense_Mutation_p.I12L	p.I12L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	36	+			12					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.34A>C	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.015	-1.563173	0.00903	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.57107	0.42;1.39	2.18	-2.07	0.07276	.	0.363325	0.17436	N	0.174308	T	0.13329	0.0323	N	0.00392	-1.555	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.001	T	0.34950	-0.9808	10	0.02654	T	1	.	8.841	0.35142	0.5418:0.4582:0.0:0.0	.	12;12	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	L	12	ENSP00000334276:I12L;ENSP00000427399:I12L	ENSP00000334276:I12L	I	+	1	0	UGT2B28	70180841	0.058000	0.20735	0.001000	0.08648	0.009000	0.06853	0.228000	0.17814	-0.791000	0.04486	0.155000	0.16302	ATA		0.413	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		67	87	0	0	0	1	0	67	87				
TTN	7273	broad.mit.edu	37	2	179416808	179416808	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179416808C>T	ENST00000591111.1	-	285	86120	c.85896G>A	c.(85894-85896)aaG>aaA	p.K28632K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.K21400K|TTN_ENST00000342992.6_Silent_p.K27705K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Silent_p.K30273K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.K21333K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.K21208K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28632	Fibronectin type-III 108. {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)			AACACACCATCTTCCAGTTAG	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.(90817-90819)aaG>aaA		titin							134.0	134.0	134.0					2																	179416808		2022	4197	6219	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179416808C>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.85896G>A	2.37:g.179416808C>T						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.K27705K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.K28632K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K21333K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.K21400K|TTN_ENST00000460472.2_Silent_p.K21208K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.K30273K	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)		335	91043	-			28632			Fibronectin type-III 121.		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	Silent	SNP	ENST00000591111.1	37	c.90819G>A																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	50	0	0	0	1	0	36	50				
PEX5L	51555	broad.mit.edu	37	3	179593248	179593248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:179593248C>T	ENST00000467460.1	-	6	853	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	PEX5L_ENST00000485199.1_Missense_Mutation_p.E140K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E116K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E132K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E67K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E67K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.E173K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000465751.1_Missense_Mutation_p.E151K|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	175					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCATTTTTCCAGTTGTGTT	0.517																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(523-525)Gaa>Aaa		peroxisomal biogenesis factor 5-like							137.0	121.0	126.0					3																	179593248		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179593248C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.523G>A	3.37:g.179593248C>T	ENSP00000419975:p.Glu175Lys					PEX5L_ENST00000485199.1_Missense_Mutation_p.E140K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E132K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E151K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E67K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.E67K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E173K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E116K	p.E175K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		6	853	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		175					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.523G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009452	0.54361	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.49;-2.36;-2.49;-2.5;-2.36;-2.5	5.88	5.01	0.66863	.	0.158902	0.56097	D	0.000033	D	0.82430	0.5035	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.34329	0.115;0.048;0.319;0.449;0.449;0.115	B;B;B;B;B;B	0.32864	0.045;0.031;0.081;0.154;0.154;0.045	T	0.83239	-0.0059	10	0.87932	D	0	-22.879	14.9926	0.71401	0.0:0.932:0.0:0.068	.	116;151;67;173;140;175	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	175;173;140;173;67;132;63;116;67;151;164;199	ENSP00000419975:E175K;ENSP00000263962:E173K;ENSP00000418440:E140K;ENSP00000376420:E67K;ENSP00000420555:E132K;ENSP00000418054:E116K;ENSP00000417270:E67K;ENSP00000419348:E151K	ENSP00000263962:E173K	E	-	1	0	PEX5L	181075942	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.335000	0.65929	1.503000	0.48686	0.650000	0.86243	GAA		0.517	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		18	33	0	0	0	1	0	18	33				
ITGB2	3689	broad.mit.edu	37	21	46320382	46320382	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:46320382G>A	ENST00000397850.2	-	8	1202	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000355153.4_Silent_p.I250I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	250	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(748-750)atC>atT		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						43.0	46.0	45.0					21																	46320382		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320382G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.750C>T	21.37:g.46320382G>A						ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000355153.4_Silent_p.I250I	p.I250I			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1202	-			250			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.750C>T	CCDS13716.1																																																																																				0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		35	15	0	0	0	1	0	35	15				
ADCY1	107	broad.mit.edu	37	7	45747965	45747965	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45747965C>G	ENST00000297323.7	+	18	2856	c.2834C>G	c.(2833-2835)tCc>tGc	p.S945C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	945					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGTCCATCTCCTCCCACCTG	0.527																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2833-2835)tCc>tGc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						200.0	152.0	169.0					7																	45747965		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45747965C>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2834C>G	7.37:g.45747965C>G	ENSP00000297323:p.Ser945Cys						p.S945C	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			18	2856	+			945					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2834C>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105367	0.56291	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.30448	1.53	5.34	4.39	0.52855	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.353172	0.33959	N	0.004389	T	0.36799	0.0980	M	0.82323	2.585	0.25847	N	0.983984	B	0.15930	0.015	B	0.24155	0.051	T	0.18587	-1.0332	10	0.36615	T	0.2	.	10.5165	0.44892	0.2797:0.7202:0.0:0.0	.	945	Q08828	ADCY1_HUMAN	C	945	ENSP00000297323:S945C	ENSP00000297323:S945C	S	+	2	0	ADCY1	45714490	0.999000	0.42202	0.997000	0.53966	0.935000	0.57460	1.777000	0.38604	2.780000	0.95670	0.609000	0.83330	TCC		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		15	36	0	0	0	1	0	15	36				
DNAH5	1767	broad.mit.edu	37	5	13735280	13735280	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13735280C>T	ENST00000265104.4	-	68	11825	c.11721G>A	c.(11719-11721)agG>agA	p.R3907R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3907					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACTCGGTTCCTCTGGATGT	0.438									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11719-11721)agG>agA		dynein, axonemal, heavy chain 5							120.0	113.0	115.0					5																	13735280		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735280C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11721G>A	5.37:g.13735280C>T							p.R3907R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			68	11825	-	Lung NSC(4;0.00476)		3907					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11721G>A	CCDS3882.1																																																																																				0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		27	43	0	0	0	1	0	27	43				
NCOA1	8648	broad.mit.edu	37	2	24929891	24929891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:24929891C>T	ENST00000406961.1	+	13	2204	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	NCOA1_ENST00000405141.1_Missense_Mutation_p.P518S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P518S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P518S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P367S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P518S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P518S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	518	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTAAGCTCTCCCGTTGGCAT	0.418			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(1552-1554)Ccc>Tcc		nuclear receptor coactivator 1							92.0	96.0	95.0					2																	24929891		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929891C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1552C>T	2.37:g.24929891C>T	ENSP00000385216:p.Pro518Ser					NCOA1_ENST00000538539.1_Missense_Mutation_p.P518S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P518S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P518S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P518S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P367S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P518S	p.P518S			Q15788	NCOA1_HUMAN			14	2263	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		518			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1552C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039656	0.55003	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.09630	3.18;3.16;2.96;3.16;3.18;3.16;3.18	5.23	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.70595	2.14	0.58432	D	0.999998	D;B;D;D	0.89917	1.0;0.402;1.0;0.982	D;B;D;P	0.87578	0.998;0.219;0.998;0.758	T	0.05869	-1.0859	10	0.48119	T	0.1	.	15.7042	0.77565	0.0:0.8624:0.1376:0.0	.	518;518;518;367	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	S	518;518;367;518;518;518;518	ENSP00000385216:P518S;ENSP00000385097:P518S;ENSP00000385195:P367S;ENSP00000444039:P518S;ENSP00000320940:P518S;ENSP00000288599:P518S;ENSP00000379197:P518S	ENSP00000288599:P518S	P	+	1	0	NCOA1	24783395	0.989000	0.36119	0.950000	0.38849	0.799000	0.45148	4.240000	0.58701	1.312000	0.45043	0.655000	0.94253	CCC		0.418	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		33	70	0	0	0	1	0	33	70				
COPG1	22820	broad.mit.edu	37	3	128976645	128976645	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128976645C>T	ENST00000314797.6	+	10	917	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	271					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										ATGAAGCCGCCTCGGCCATCG	0.557																																						ENST00000314797.6																			0											c.(811-813)gcC>gcT		coatomer protein complex, subunit gamma 1							169.0	167.0	168.0					3																	128976645		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976645C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.813C>T	3.37:g.128976645C>T							p.A271A	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			10	917	+			271					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.813C>T	CCDS33851.1																																																																																				0.557	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		80	134	0	0	0	1	0	80	134				
KIF26A	26153	broad.mit.edu	37	14	104642401	104642401	+	Silent	SNP	G	G	A	rs575412933	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:104642401G>A	ENST00000423312.2	+	12	3276	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	KIF26A_ENST00000315264.7_Silent_p.E953E	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1092					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGCCCCTGAGGGGGGGCCCC	0.682													G|||	3	0.000599042	0.0008	0.0	5008	,	,		14318	0.0		0.0	False		,,,				2504	0.002					ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(2857-2859)gaG>gaA		kinesin family member 26A							5.0	7.0	6.0					14																	104642401		1783	3946	5729	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642401G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3276G>A	14.37:g.104642401G>A						KIF26A_ENST00000423312.2_Silent_p.E1092E	p.E953E			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3237	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1092					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.2859G>A	CCDS45171.1																																																																																				0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			3	4	0	0	0	1	0	3	4				
RYR1	6261	broad.mit.edu	37	19	38956791	38956791	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38956791G>A	ENST00000359596.3	+	24	2931	c.2931G>A	c.(2929-2931)acG>acA	p.T977T	RYR1_ENST00000355481.4_Silent_p.T977T|RYR1_ENST00000360985.3_Silent_p.T977T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	977	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCGGCTGACGCCGGCGCAGA	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(2929-2931)acG>acA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						28.0	30.0	30.0					19																	38956791		2202	4299	6501	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956791G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2931G>A	19.37:g.38956791G>A						RYR1_ENST00000360985.3_Silent_p.T977T|RYR1_ENST00000359596.3_Silent_p.T977T	p.T977T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3062	+	all_cancers(60;7.91e-06)		977			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2931G>A	CCDS33011.1																																																																																				0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	13	0	0	0	1	0	10	13				
SLC5A3	6526	broad.mit.edu	37	21	35468332	35468332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:35468332G>A	ENST00000381151.3	+	2	1347	c.835G>A	c.(835-837)Gac>Aac	p.D279N	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.D279N			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	279					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTGGTGTGCTGACCAAGTCAT	0.488																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(835-837)Gac>Aac		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							100.0	94.0	96.0					21																	35468332		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468332G>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.835G>A	21.37:g.35468332G>A	ENSP00000370543:p.Asp279Asn					MRPS6_ENST00000399312.2_Intron	p.D279N	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1347	+			279					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.835G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917763	0.73098	.	.	ENSG00000198743	ENST00000381151	D	0.86432	-2.12	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	L	0.33137	0.985	0.58432	D	0.999993	D	0.89917	1.0	D	0.77557	0.99	D	0.90725	0.4638	10	0.56958	D	0.05	.	18.663	0.91478	0.0:0.0:1.0:0.0	.	279	P53794	SC5A3_HUMAN	N	279	ENSP00000370543:D279N	ENSP00000370543:D279N	D	+	1	0	SLC5A3	34390202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.699000	0.92147	0.609000	0.83330	GAC		0.488	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			44	22	0	0	0	1	0	44	22				
SERTAD1	29950	broad.mit.edu	37	19	40929340	40929340	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40929340C>T	ENST00000357949.4	-	2	272	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCCACGGCCGGGGGTGCCT	0.642																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(112-114)ccG>ccA		SERTA domain containing 1							23.0	28.0	26.0					19																	40929340		2197	4290	6487	SO:0001819	synonymous_variant	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929340C>T	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.114G>A	19.37:g.40929340C>T							p.P38P	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	272	-			38			SERTA.		Q9BUE7	Silent	SNP	ENST00000357949.4	37	c.114G>A	CCDS12557.1																																																																																				0.642	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		15	25	0	0	0	1	0	15	25				
B3GALT4	8705	broad.mit.edu	37	6	33245462	33245462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33245462C>T	ENST00000451237.1	+	1	546	c.266C>T	c.(265-267)gCc>gTc	p.A89V		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	89					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAGAGAAACGCCATTCGGGCT	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(265-267)gCc>gTc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							60.0	76.0	71.0					6																	33245462		2192	4292	6484	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245462C>T	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.266C>T	6.37:g.33245462C>T	ENSP00000390784:p.Ala89Val						p.A89V	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	546	+			89						Missense_Mutation	SNP	ENST00000451237.1	37	c.266C>T	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854573	0.91355	.	.	ENSG00000235863	ENST00000451237	T	0.46819	0.86	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.56001	0.1956	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54853	-0.8231	10	0.41790	T	0.15	.	14.8325	0.70159	0.0:1.0:0.0:0.0	.	89	O96024	B3GT4_HUMAN	V	89	ENSP00000390784:A89V	ENSP00000390784:A89V	A	+	2	0	B3GALT4	33353440	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	4.397000	0.59690	2.356000	0.79943	0.549000	0.68633	GCC		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			5	94	0	0	0	1	0	5	94				
UBR4	23352	broad.mit.edu	37	1	19493610	19493610	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19493610C>T	ENST00000375254.3	-	29	4042	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	UBR4_ENST00000375226.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375267.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375217.2_Missense_Mutation_p.G1339S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1339					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGCAGGGCCCAAGATGCGT	0.493																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4015-4017)Ggc>Agc		ubiquitin protein ligase E3 component n-recognin 4							161.0	146.0	151.0					1																	19493610		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19493610C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4015G>A	1.37:g.19493610C>T	ENSP00000364403:p.Gly1339Ser					UBR4_ENST00000375254.3_Missense_Mutation_p.G1339S|UBR4_ENST00000375217.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375226.2_Missense_Mutation_p.G1339S	p.G1339S			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	4018	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1339					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4015G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356480	0.95854	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.0	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.74057	-0.3787	10	0.42905	T	0.14	.	19.5316	0.95231	0.0:1.0:0.0:0.0	.	1339	Q5T4S7	UBR4_HUMAN	S	1339;1339;1339;1339;49;555	ENSP00000364403:G1339S;ENSP00000364416:G1339S;ENSP00000364365:G1339S;ENSP00000364374:G1339S;ENSP00000404897:G49S	ENSP00000364365:G1339S	G	-	1	0	UBR4	19366197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.424000	0.80242	2.721000	0.93114	0.585000	0.79938	GGC		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		35	33	0	0	0	1	0	35	33				
ELMO1	9844	broad.mit.edu	37	7	37354507	37354507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:37354507C>T	ENST00000310758.4	-	4	786	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	ELMO1_ENST00000442504.1_Missense_Mutation_p.E47K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E47K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	47					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAAAATATTCATGGTTGGCA	0.328																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(139-141)Gaa>Aaa		engulfment and cell motility 1							100.0	95.0	96.0					7																	37354507		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37354507C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.139G>A	7.37:g.37354507C>T	ENSP00000312185:p.Glu47Lys					ELMO1_ENST00000442504.1_Missense_Mutation_p.E47K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E47K	p.E47K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			4	786	-			47					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.139G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753098	0.69648	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.72394	2.33;2.33;2.33;1.31;1.29;-0.65;0.53	4.85	4.85	0.62838	.	0.059349	0.64402	D	0.000003	T	0.75895	0.3912	M	0.81802	2.56	0.80722	D	1	B	0.27264	0.173	B	0.34824	0.19	T	0.76969	-0.2762	10	0.59425	D	0.04	.	16.3012	0.82816	0.0:1.0:0.0:0.0	.	47	Q92556	ELMO1_HUMAN	K	47	ENSP00000312185:E47K;ENSP00000406952:E47K;ENSP00000394458:E47K;ENSP00000406610:E47K;ENSP00000416090:E47K;ENSP00000391734:E47K;ENSP00000397857:E47K	ENSP00000312185:E47K	E	-	1	0	ELMO1	37321032	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.396000	0.66297	2.705000	0.92388	0.650000	0.86243	GAA		0.328	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		29	40	0	0	0	1	0	29	40				
ATRX	546	broad.mit.edu	37	X	76874400	76874400	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76874400C>T	ENST00000373344.5	-	21	5536	c.5322G>A	c.(5320-5322)aaG>aaA	p.K1774K	ATRX_ENST00000395603.3_Silent_p.K1736K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1774					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCTGAACTCCTTAATGGATC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5320-5322)aaG>aaA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						72.0	64.0	67.0					X																	76874400		2203	4295	6498	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874400C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5322G>A	X.37:g.76874400C>T						ATRX_ENST00000395603.3_Silent_p.K1736K|ATRX_ENST00000480283.1_5'UTR	p.K1774K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5536	-			1774					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.5322G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773918	0.16051	.	.	ENSG00000085224	ENST00000400866	.	.	.	5.5	3.28	0.37604	.	.	.	.	.	T	0.62024	0.2394	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59408	-0.7460	4	.	.	.	-8.4266	11.582	0.50898	0.0:0.7472:0.0:0.2528	.	.	.	.	K	63	.	.	R	-	2	0	ATRX	76761056	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.454000	0.35178	0.988000	0.38734	-0.380000	0.06706	AGG		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		29	37	0	0	0	1	0	29	37				
PLPPR2	64748	broad.mit.edu	37	19	11470547	11470547	+	Silent	SNP	C	C	T	rs372025949		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11470547C>T	ENST00000251473.5	+	5	682	c.306C>T	c.(304-306)gcC>gcT	p.A102A	DKFZP761J1410_ENST00000591608.1_Silent_p.A77A	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CACCTTCAGCCGTCCCAGTCA	0.647																																						ENST00000251473.5																			0											c.(304-306)gcC>gcT					,	0,4406		0,0,2203	59.0	54.0	55.0		231,306	-0.9	0.0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPPR2	NM_001170635.1,NM_022737.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	77/428,102/344	11470547	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64748							g.chr19:11470547C>T																												ENST00000251473.5:c.306C>T	19.37:g.11470547C>T						DKFZP761J1410_ENST00000591608.1_Silent_p.A77A	p.A102A	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					5	682	+									Silent	SNP	ENST00000251473.5	37	c.306C>T	CCDS12258.1																																																																																				0.647	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			21	10	0	0	0	1	0	21	10				
TCL6	27004	broad.mit.edu	37	14	96134470	96134470	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:96134470G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CAGATCACGGGAATTACAAGT	0.418			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8															116.0	113.0	114.0					14																	96134470		2203	4300	6503			27004							g.chr14:96134470G>A	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134470G>A						RP11-1070N10.6_ENST00000461160.1_RNA							Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.418	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		26	53	0	0	0	1	0	26	53				
KCNIP1	30820	broad.mit.edu	37	5	169931580	169931580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169931580G>A	ENST00000411494.1	+	1	4	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	KCNIP1_ENST00000434108.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000390656.4_Missense_Mutation_p.G2R|KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000328939.4_Missense_Mutation_p.G2R			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	2					detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTGCCATGGGGGCCGTCAT	0.582																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(4-6)Ggg>Agg		Kv channel interacting protein 1							83.0	88.0	86.0					5																	169931580		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:169931580G>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.4G>A	5.37:g.169931580G>A	ENSP00000395323:p.Gly2Arg					KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000390656.4_Missense_Mutation_p.G2R|KCNIP1_ENST00000411494.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000434108.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000377360.4_Intron	p.G2R	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	541	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	2					B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.4G>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.163562	0.78226	.	.	ENSG00000182132	ENST00000328939;ENST00000390656;ENST00000434108;ENST00000411494	T;T;T;T	0.76709	-0.69;-0.69;-1.04;-0.76	4.63	4.63	0.57726	.	0.147812	0.42294	U	0.000725	T	0.74642	0.3743	N	0.08118	0	0.38105	D	0.937381	D;D;D	0.89917	0.99;1.0;1.0	P;D;D	0.91635	0.812;0.996;0.999	T	0.76135	-0.3070	9	.	.	.	.	12.9979	0.58657	0.0:0.0:1.0:0.0	.	2;2;2	Q3YAD0;Q3YAD2;Q9NZI2	.;.;KCIP1_HUMAN	R	2	ENSP00000329686:G2R;ENSP00000375071:G2R;ENSP00000414886:G2R;ENSP00000395323:G2R	.	G	+	1	0	KCNIP1	169864158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.304000	0.59104	2.117000	0.64856	0.563000	0.77884	GGG		0.582	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			29	41	0	0	0	1	0	29	41				
DBF4B	80174	broad.mit.edu	37	17	42824479	42824479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42824479C>T	ENST00000315005.3	+	11	997	c.859C>T	c.(859-861)Cga>Tga	p.R287*	DBF4B_ENST00000393547.2_Nonsense_Mutation_p.R287*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	287					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GCCAAGCCCACGATCAGCTGC	0.592																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(859-861)Cga>Tga		DBF4 homolog B (S. cerevisiae)							158.0	136.0	143.0					17																	42824479		2203	4300	6503	SO:0001587	stop_gained	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42824479C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.859C>T	17.37:g.42824479C>T	ENSP00000323663:p.Arg287*					DBF4B_ENST00000393547.2_Nonsense_Mutation_p.R287*	p.R287*	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			11	997	+		Prostate(33;0.0322)	287					D3DX56|Q8TEX0|Q96B19|Q9H912	Nonsense_Mutation	SNP	ENST00000315005.3	37	c.859C>T	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482764	0.63962	.	.	ENSG00000161692	ENST00000393547;ENST00000315005	.	.	.	4.18	0.985	0.19779	.	0.977580	0.08337	N	0.961366	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4455	0.11595	0.3996:0.4909:0.0:0.1095	.	.	.	.	X	287	.	ENSP00000323663:R287X	R	+	1	2	DBF4B	40180005	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.076000	0.14712	0.228000	0.21019	-0.856000	0.03024	CGA		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		34	81	0	0	0	1	0	34	81				
TTBK1	84630	broad.mit.edu	37	6	43227345	43227345	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43227345C>T	ENST00000259750.4	+	12	1408	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	TTBK1_ENST00000304139.5_Missense_Mutation_p.P391L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	442					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)			CCAGACTCCCCCACAACCCCA	0.667																																						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.(1324-1326)cCc>cTc		tau tubulin kinase 1							23.0	24.0	24.0					6																	43227345		2203	4299	6502	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43227345C>T	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.1325C>T	6.37:g.43227345C>T	ENSP00000259750:p.Pro442Leu					TTBK1_ENST00000304139.5_Missense_Mutation_p.P391L	p.P442L	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)		12	1408	+			442					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1325C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511606	0.85389	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.55930	0.49	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.44542	1.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.58177	-0.7682	10	0.46703	T	0.11	.	15.4743	0.75465	0.0:1.0:0.0:0.0	.	442	Q5TCY1	TTBK1_HUMAN	L	391;442;391	ENSP00000259750:P442L	ENSP00000259750:P442L	P	+	2	0	TTBK1	43335323	0.999000	0.42202	0.981000	0.43875	0.943000	0.58893	6.308000	0.72820	2.383000	0.81215	0.555000	0.69702	CCC		0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			6	6	0	0	0	1	0	6	6				
MTL5	9633	broad.mit.edu	37	11	68517757	68517757	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68517757G>A	ENST00000255087.5	-	2	555	c.372C>T	c.(370-372)ttC>ttT	p.F124F	MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Silent_p.F124F|MTL5_ENST00000443940.2_Silent_p.F124F	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	124					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCGAGGACAGGAAGTGCACGT	0.736																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(370-372)ttC>ttT		metallothionein-like 5, testis-specific (tesmin)							7.0	9.0	8.0					11																	68517757		2124	4176	6300	SO:0001819	synonymous_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517757G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.372C>T	11.37:g.68517757G>A						MTL5_ENST00000255087.5_Silent_p.F124F|MTL5_ENST00000544963.1_Silent_p.F124F	p.F124F			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	458	-	Esophageal squamous(3;4.37e-12)		124					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	ENST00000255087.5	37	c.372C>T	CCDS8184.1																																																																																				0.736	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		5	7	0	0	0	1	0	5	7				
PCDH9	5101	broad.mit.edu	37	13	67800481	67800481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800481C>T	ENST00000377865.2	-	1	2226	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	PCDH9_ENST00000456367.1_Missense_Mutation_p.A698T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A698T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A698T|PCDH9_ENST00000544246.1_Missense_Mutation_p.A698T			Q9HC56	PCDH9_HUMAN	protocadherin 9	698	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAAACTTCTGCTACCACGGAG	0.448																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2092-2094)Gca>Aca		protocadherin 9							90.0	93.0	92.0					13																	67800481		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800481C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2092G>A	13.37:g.67800481C>T	ENSP00000367096:p.Ala698Thr					PCDH9_ENST00000377865.2_Missense_Mutation_p.A698T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A698T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A698T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A698T	p.A698T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2783	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	698			Cadherin 7.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2092G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351919	0.24512	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	N	0.03304	-0.355	0.80722	D	1	B;B;B;B	0.20368	0.015;0.044;0.036;0.044	B;B;B;B	0.26517	0.048;0.04;0.042;0.07	T	0.13764	-1.0497	10	0.13853	T	0.58	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	698;698;698;698	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	T	698	ENSP00000442186:A698T;ENSP00000367096:A698T;ENSP00000401699:A698T;ENSP00000332060:A698T;ENSP00000367092:A698T	ENSP00000332060:A698T	A	-	1	0	PCDH9	66698482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.932000	0.70121	2.814000	0.96858	0.655000	0.94253	GCA		0.448	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		39	59	0	0	0	1	0	39	59				
GCN1L1	10985	broad.mit.edu	37	12	120585974	120585974	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585974G>A	ENST00000300648.6	-	37	4735	c.4723C>T	c.(4723-4725)Ctg>Ttg	p.L1575L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1575					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTACCCAGGATCTCCGGG	0.587																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4723-4725)Ctg>Ttg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							43.0	47.0	46.0					12																	120585974		1997	4168	6165	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120585974G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4723C>T	12.37:g.120585974G>A							p.L1575L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			37	4735	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1575					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.4723C>T	CCDS41847.1																																																																																				0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	35	0	0	0	1	0	7	35				
ABCA7	10347	broad.mit.edu	37	19	1047651	1047651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1047651C>T	ENST00000263094.6	+	16	2498	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L	ABCA7_ENST00000433129.1_Missense_Mutation_p.P756L|ABCA7_ENST00000435683.2_Missense_Mutation_p.P618L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	756					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTGTGCCCAGGTGGGCCG	0.711																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(2266-2268)cCa>cTa		ATP-binding cassette, sub-family A (ABC1), member 7							9.0	12.0	11.0					19																	1047651		2162	4254	6416	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1047651C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2267C>T	19.37:g.1047651C>T	ENSP00000263094:p.Pro756Leu					ABCA7_ENST00000435683.2_Missense_Mutation_p.P618L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P756L	p.P756L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2498	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	756					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.2267C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	c	28.8	4.949801	0.92660	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	T;T	0.77098	-1.07;-1.07	4.59	4.59	0.56863	.	.	.	.	.	D	0.89273	0.6668	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.972	D;P	0.76575	0.988;0.728	D	0.91416	0.5155	9	0.72032	D	0.01	.	14.8613	0.70384	0.0:1.0:0.0:0.0	.	618;756	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	L	756	ENSP00000263094:P756L;ENSP00000414062:P756L	ENSP00000263094:P756L	P	+	2	0	ABCA7	998651	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.631000	0.83237	2.093000	0.63338	0.401000	0.26515	CCA		0.711	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		6	4	0	0	0	1	0	6	4				
CRAMP1L	57585	broad.mit.edu	37	16	1716090	1716090	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:1716090G>A	ENST00000397412.3	+	15	2868	c.2769G>A	c.(2767-2769)cgG>cgA	p.R923R	CRAMP1L_ENST00000436138.3_Silent_p.R920R|CRAMP1L_ENST00000293925.5_Silent_p.R923R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.R301R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	923						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTTCGTTCCGGCCCATCCAGT	0.632																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(2767-2769)cgG>cgA		Crm, cramped-like (Drosophila)							32.0	37.0	36.0					16																	1716090		2021	4165	6186	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1716090G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2769G>A	16.37:g.1716090G>A						CRAMP1L_ENST00000436138.3_Silent_p.R920R|CRAMP1L_ENST00000293925.5_Silent_p.R923R|CRAMP1L_ENST00000262317.4_Silent_p.R301R|LA16c-431H6.6_ENST00000454337.1_3'UTR	p.R923R			Q96RY5	CRML_HUMAN			15	2868	+			923					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.2769G>A	CCDS10440.2																																																																																				0.632	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			4	9	0	0	0	1	0	4	9				
GREB1	9687	broad.mit.edu	37	2	11774278	11774278	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11774278G>A	ENST00000381486.2	+	29	5313	c.5013G>A	c.(5011-5013)agG>agA	p.R1671R	GREB1_ENST00000396123.1_Silent_p.R669R|GREB1_ENST00000234142.5_Silent_p.R1671R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1671						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGTCGGAAAGGAACGTGTCTT	0.617																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5011-5013)agG>agA		growth regulation by estrogen in breast cancer 1							99.0	106.0	104.0					2																	11774278		2147	4251	6398	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11774278G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5013G>A	2.37:g.11774278G>A						GREB1_ENST00000234142.5_Silent_p.R1671R|GREB1_ENST00000396123.1_Silent_p.R669R	p.R1671R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5313	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1671					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5013G>A	CCDS42655.1																																																																																				0.617	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		35	73	0	0	0	1	0	35	73				
RFPL1	5988	broad.mit.edu	37	22	29837951	29837951	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29837951C>T	ENST00000354373.2	+	2	1003	c.794C>T	c.(793-795)tCc>tTc	p.S265F	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	265	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAAGGTGGTTCCCATGTCTAT	0.473																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(793-795)tCc>tTc		ret finger protein-like 1							155.0	119.0	131.0					22																	29837951		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29837951C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.794C>T	22.37:g.29837951C>T	ENSP00000346342:p.Ser265Phe					RFPL1S_ENST00000461286.2_RNA	p.S265F	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	1003	+			265			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.794C>T	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788547	0.31685	.	.	ENSG00000128250	ENST00000354373	T	0.70282	-0.47	1.42	1.42	0.22433	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.75838	0.3904	M	0.77103	2.36	0.09310	N	1	P	0.41475	0.751	P	0.49047	0.599	T	0.65911	-0.6053	9	0.62326	D	0.03	.	8.7369	0.34534	0.0:1.0:0.0:0.0	.	265	O75677	RFPL1_HUMAN	F	265	ENSP00000346342:S265F	ENSP00000346342:S265F	S	+	2	0	RFPL1	28167951	0.000000	0.05858	0.002000	0.10522	0.252000	0.25951	-0.904000	0.04080	0.674000	0.31244	0.195000	0.17529	TCC		0.473	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		27	45	0	0	0	1	0	27	45				
SELP	6403	broad.mit.edu	37	1	169578792	169578792	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169578792A>G	ENST00000263686.6	-	8	1320	c.1283T>C	c.(1282-1284)gTt>gCt	p.V428A	SELP_ENST00000367786.2_Missense_Mutation_p.V366A|SELP_ENST00000367793.2_Missense_Mutation_p.V366A|SELP_ENST00000458599.2_Missense_Mutation_p.V366A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.V366A|SELP_ENST00000367792.2_Missense_Mutation_p.V366A|SELP_ENST00000367788.2_Missense_Mutation_p.V366A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	428	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ATCACACCGAACTATATCGGC	0.498																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1282-1284)gTt>gCt		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						169.0	140.0	150.0					1																	169578792		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578792A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1283T>C	1.37:g.169578792A>G	ENSP00000263686:p.Val428Ala					SELP_ENST00000367792.2_Missense_Mutation_p.V366A|SELP_ENST00000367794.2_Missense_Mutation_p.V366A|SELP_ENST00000458599.2_Missense_Mutation_p.V366A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.V366A|SELP_ENST00000367786.2_Missense_Mutation_p.V366A|SELP_ENST00000367788.2_Missense_Mutation_p.V366A	p.V428A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1320	-	all_hematologic(923;0.208)		428			Sushi 4.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.1283T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780860	0.31502	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.74	-0.337	0.12654	Complement control module (2);Sushi/SCR/CCP (3);	0.973687	0.08431	N	0.946855	T	0.29914	0.0748	L	0.52905	1.665	0.09310	N	1	B;B;B	0.16166	0.011;0.005;0.016	B;B;B	0.21360	0.034;0.029;0.023	T	0.33033	-0.9884	10	0.12430	T	0.62	-1.5642	8.8175	0.35004	0.5757:0.0:0.4243:0.0	.	428;428;428	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	A	428;427;366;428;428;366;366;366;366;366;351	ENSP00000263686:V428A;ENSP00000356767:V366A;ENSP00000356768:V366A;ENSP00000356766:V366A;ENSP00000356762:V366A;ENSP00000356760:V366A	ENSP00000263686:V428A	V	-	2	0	SELP	167845416	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.017000	0.13399	-0.091000	0.12440	0.528000	0.53228	GTT		0.498	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		15	46	0	0	0	1	0	15	46				
SSTR2	6752	broad.mit.edu	37	17	71166355	71166355	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:71166355C>T	ENST00000357585.2	+	2	1266	c.897C>T	c.(895-897)gtC>gtT	p.V299V	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.V299V	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	299					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TTGTGGTGGTCCTCACCTATG	0.493																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(895-897)gtC>gtT		somatostatin receptor 2							177.0	148.0	157.0					17																	71166355		2203	4300	6503	SO:0001819	synonymous_variant	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166355C>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.897C>T	17.37:g.71166355C>T						SSTR2_ENST00000315332.2_Silent_p.V299V|RP11-143K11.5_ENST00000580671.1_RNA	p.V299V	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1266	+			299					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	ENST00000357585.2	37	c.897C>T	CCDS11691.1																																																																																				0.493	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			35	50	0	0	0	1	0	35	50				
ARG1	383	broad.mit.edu	37	6	131900308	131900308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:131900308C>T	ENST00000368087.3	+	3	327	c.188C>T	c.(187-189)cCc>cTc	p.P63L	ARG1_ENST00000498260.1_3'UTR|MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.P71L			P05089	ARGI1_HUMAN	arginase 1	63					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AATGACAGTCCCTTTCAAATT	0.428																																						ENST00000368087.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14						c.(187-189)cCc>cTc		arginase 1	L-Ornithine(DB00129)						73.0	74.0	74.0					6																	131900308		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131900308C>T		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.188C>T	6.37:g.131900308C>T	ENSP00000357066:p.Pro63Leu					ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.P63L|ARG1_ENST00000356962.2_Missense_Mutation_p.P71L|MED23_ENST00000354577.4_Intron	p.P63L			P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	3	327	+	Breast(56;0.0753)		63					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.188C>T	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611253	0.46631	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;T;T	0.96011	-3.88;1.04;1.04	6.11	5.23	0.72850	Ureohydrolase domain (1);	0.219852	0.48286	D	0.000195	D	0.88183	0.6368	L	0.33753	1.03	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.13407	0.009;0.007	D	0.84602	0.0673	10	0.33141	T	0.24	-3.6191	15.2279	0.73364	0.0:0.8588:0.1412:0.0	.	71;63	P05089-2;P05089	.;ARGI1_HUMAN	L	63;71;63	ENSP00000357066:P63L;ENSP00000349446:P71L;ENSP00000417694:P63L	ENSP00000349446:P71L	P	+	2	0	ARG1	131942001	0.908000	0.30866	0.946000	0.38457	0.983000	0.72400	3.214000	0.51161	1.574000	0.49760	0.655000	0.94253	CCC		0.428	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			23	15	0	0	0	1	0	23	15				
EPOR	2057	broad.mit.edu	37	19	11489349	11489349	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11489349G>A	ENST00000222139.6	-	7	1020				EPOR_ENST00000592375.2_Silent_p.V311V	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor						brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCACTGAGGGGACAACCAGGC	0.567																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(931-933)gtC>gtT		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						100.0	92.0	94.0					19																	11489349		2203	4300	6503	SO:0001627	intron_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11489349G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.915+17C>T	19.37:g.11489349G>A						EPOR_ENST00000222139.6_Intron	p.V311V			P19235	EPOR_HUMAN			7	1037	-			0					B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	37	c.933C>T	CCDS12260.1																																																																																				0.567	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			27	20	0	0	0	1	0	27	20				
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647518	33647518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:33647518C>T	ENST00000558425.1	-	2	81	c.82G>A	c.(82-84)Gga>Aga	p.G28R																								ACCAAGCCTCCCCCAGACTCC	0.562																																						ENST00000558425.1																			0											c.(82-84)Gga>Aga									52.0	61.0	58.0					16																	33647518		1798	4074	5872	SO:0001583	missense	28307							g.chr16:33647518C>T																												ENST00000558425.1:c.82G>A	16.37:g.33647518C>T	ENSP00000475107:p.Gly28Arg						p.G28R							2	81	-									Missense_Mutation	SNP	ENST00000558425.1	37	c.82G>A																																																																																					0.562	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				34	70	0	0	0	1	0	34	70				
RNF43	54894	broad.mit.edu	37	17	56448301	56448301	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448301G>A	ENST00000584437.1	-	2	2301	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	RNF43_ENST00000577716.1_Missense_Mutation_p.P116S|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116S|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGGCGGGGGGCCCGTCGA	0.602																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(346-348)Ccc>Tcc		ring finger protein 43							57.0	52.0	53.0					17																	56448301		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448301G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.346C>T	17.37:g.56448301G>A	ENSP00000463069:p.Pro116Ser					RNF43_ENST00000577716.1_Missense_Mutation_p.P116S|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116S|RNF43_ENST00000577625.1_5'UTR	p.P116S			Q68DV7	RNF43_HUMAN			2	2301	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		116					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.346C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562176	0.86335	.	.	ENSG00000108375	ENST00000407977	T	0.66280	-0.2	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.68063	0.2960	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.70029	-0.4984	10	0.62326	D	0.03	-7.6233	13.2704	0.60157	0.0:0.0:0.8416:0.1584	.	116	Q68DV7	RNF43_HUMAN	S	116	ENSP00000385328:P116S	ENSP00000385328:P116S	P	-	1	0	RNF43	53803300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.154000	0.71826	2.555000	0.86185	0.655000	0.94253	CCC		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		24	42	0	0	0	1	0	24	42				
PCDHB14	56122	broad.mit.edu	37	5	140605029	140605029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140605029C>T	ENST00000239449.4	+	1	1952	c.1952C>T	c.(1951-1953)cCt>cTt	p.P651L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.P498L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCTCGCTCGGCC	0.726																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1951-1953)cCt>cTt									14.0	17.0	16.0					5																	140605029		1815	3788	5603	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605029C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1952C>T	5.37:g.140605029C>T	ENSP00000239449:p.Pro651Leu					PCDHB14_ENST00000515856.2_Missense_Mutation_p.P498L	p.P651L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1952	+			651			Cadherin 6.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1952C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	N	11.33	1.607422	0.28623	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.56941	0.43;0.43	3.83	2.96	0.34315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.65260	0.2674	M	0.92649	3.33	0.29781	N	0.833964	B	0.24618	0.107	B	0.33750	0.169	T	0.66172	-0.5990	9	0.62326	D	0.03	.	11.2098	0.48790	0.0:0.9066:0.0:0.0934	.	651	Q9Y5E9	PCDBE_HUMAN	L	498;651	ENSP00000444518:P498L;ENSP00000239449:P651L	ENSP00000239449:P651L	P	+	2	0	PCDHB14	140585213	0.746000	0.28272	0.007000	0.13788	0.001000	0.01503	7.263000	0.78421	0.722000	0.32252	-0.199000	0.12753	CCT		0.726	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		21	17	0	0	0	1	0	21	17				
FASN	2194	broad.mit.edu	37	17	80046140	80046140	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80046140G>A	ENST00000306749.2	-	17	2855	c.2637C>T	c.(2635-2637)acC>acT	p.T879T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	879					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GACCGTCGAGGGTGTGGTCCA	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2635-2637)acC>acT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						53.0	70.0	65.0					17																	80046140		2197	4296	6493	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046140G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2637C>T	17.37:g.80046140G>A							p.T879T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		17	2855	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		879					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2637C>T	CCDS11801.1																																																																																				0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		21	23	0	0	0	1	0	21	23				
SLC25A47	283600	broad.mit.edu	37	14	100795098	100795098	+	Silent	SNP	C	C	T	rs559167283		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100795098C>T	ENST00000361529.3	+	5	441	c.363C>T	c.(361-363)gtC>gtT	p.V121V	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	121					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGCCAAAGTCCGCTTGCAGA	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17873	0.0		0.0	False		,,,				2504	0.0				GBM(11;1289 1351)	ENST00000361529.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						c.(361-363)gtC>gtT		solute carrier family 25, member 47							30.0	31.0	30.0					14																	100795098		2186	4272	6458	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795098C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.363C>T	14.37:g.100795098C>T						SLC25A47_ENST00000557052.1_5'UTR	p.V121V	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN			5	441	+			121					B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.363C>T	CCDS9959.1																																																																																				0.677	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			28	43	0	0	0	1	0	28	43				
TWF1	5756	broad.mit.edu	37	12	44191151	44191151	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:44191151G>A	ENST00000395510.2	-	7	843	c.714C>T	c.(712-714)ttC>ttT	p.F238F	TWF1_ENST00000552521.1_Silent_p.F140F|TWF1_ENST00000325127.4_Silent_p.F272F|TWF1_ENST00000548315.1_Silent_p.F245F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	238	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATACAGAAAGAAATGGTAAC	0.313																																						ENST00000395510.2																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(712-714)ttC>ttT		twinfilin actin-binding protein 1							74.0	80.0	78.0					12																	44191151		2203	4297	6500	SO:0001819	synonymous_variant	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44191151G>A	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.714C>T	12.37:g.44191151G>A						TWF1_ENST00000548315.1_Silent_p.F245F|TWF1_ENST00000325127.4_Silent_p.F272F|TWF1_ENST00000552521.1_Silent_p.F140F	p.F238F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	7	843	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	238			ADF-H 2.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	ENST00000395510.2	37	c.714C>T	CCDS31780.2																																																																																				0.313	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		23	54	0	0	0	1	0	23	54				
HEPACAM2	253012	broad.mit.edu	37	7	92848478	92848478	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92848478C>T	ENST00000394468.2	-	2	443	c.366G>A	c.(364-366)gtG>gtA	p.V122V	HEPACAM2_ENST00000453812.2_Silent_p.V145V|HEPACAM2_ENST00000440868.1_Silent_p.V110V|HEPACAM2_ENST00000341723.4_Silent_p.V110V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	122					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGACCTTCACGATGTAAT	0.478																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(364-366)gtG>gtA		HEPACAM family member 2							142.0	115.0	124.0					7																	92848478		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92848478C>T	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.366G>A	7.37:g.92848478C>T						HEPACAM2_ENST00000341723.4_Silent_p.V110V|HEPACAM2_ENST00000440868.1_Silent_p.V110V|HEPACAM2_ENST00000453812.2_Silent_p.V145V	p.V122V	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			2	443	-			122					B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.366G>A	CCDS43616.1																																																																																				0.478	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		37	32	0	0	0	1	0	37	32				
MDM1	56890	broad.mit.edu	37	12	68716966	68716966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:68716966G>A	ENST00000303145.7	-	5	774	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.H185Y	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	230					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TCAGTTTCATGGATGACTGAG	0.299																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(688-690)Cat>Tat		Mdm1 nuclear protein homolog (mouse)							114.0	113.0	113.0					12																	68716966		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68716966G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.688C>T	12.37:g.68716966G>A	ENSP00000302537:p.His230Tyr					MDM1_ENST00000411698.2_Missense_Mutation_p.H185Y|MDM1_ENST00000540418.1_5'UTR	p.H230Y	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	5	774	-			230					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.688C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923921	0.34002	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.22743	1.94;1.94;1.94	4.65	4.65	0.58169	.	0.319358	0.29139	N	0.013026	T	0.33876	0.0878	M	0.68317	2.08	0.80722	D	1	D;D	0.58620	0.983;0.96	P;P	0.57009	0.811;0.577	T	0.03335	-1.1047	9	.	.	.	-5.6765	7.6069	0.28107	0.0927:0.0:0.7404:0.1669	.	185;230	E7EPQ3;Q8TC05	.;MDM1_HUMAN	Y	230;185;225	ENSP00000302537:H230Y;ENSP00000391006:H185Y;ENSP00000446000:H225Y	.	H	-	1	0	MDM1	67003233	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	3.036000	0.49767	2.530000	0.85305	0.491000	0.48974	CAT		0.299	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		19	44	0	0	0	1	0	19	44				
CD5	921	broad.mit.edu	37	11	60892578	60892578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60892578G>A	ENST00000347785.3	+	9	1520	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	452					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CGTGGATAACGAATACAGCCA	0.607																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1354-1356)Gaa>Aaa		CD5 molecule							172.0	129.0	143.0					11																	60892578		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60892578G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1354G>A	11.37:g.60892578G>A	ENSP00000342681:p.Glu452Lys						p.E452K	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	9	1520	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	452					A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1354G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641622	0.87859	.	.	ENSG00000110448	ENST00000347785	T	0.39406	1.08	4.99	4.99	0.66335	.	0.108678	0.40302	N	0.001140	T	0.50120	0.1597	L	0.29908	0.895	0.36525	D	0.870414	D	0.89917	1.0	D	0.64506	0.926	T	0.60052	-0.7338	10	0.72032	D	0.01	-23.4901	14.1174	0.65164	0.0:0.0:1.0:0.0	.	452	P06127	CD5_HUMAN	K	452	ENSP00000342681:E452K	ENSP00000342681:E452K	E	+	1	0	CD5	60649154	1.000000	0.71417	0.957000	0.39632	0.944000	0.59088	5.080000	0.64437	2.474000	0.83562	0.462000	0.41574	GAA		0.607	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		14	33	0	0	0	1	0	14	33				
POGZ	23126	broad.mit.edu	37	1	151396657	151396657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151396657G>A	ENST00000271715.2	-	9	1605	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	POGZ_ENST00000531094.1_Missense_Mutation_p.P369S|POGZ_ENST00000409503.1_Missense_Mutation_p.P422S|POGZ_ENST00000392723.1_Missense_Mutation_p.P378S|POGZ_ENST00000361398.3_Missense_Mutation_p.P378S|POGZ_ENST00000368863.2_Missense_Mutation_p.P336S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Missense_Mutation_p.P378S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	431					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCAACAGGAGCTGTTTTC	0.517																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1291-1293)Cct>Tct		pogo transposable element with ZNF domain							197.0	208.0	204.0					1																	151396657		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151396657G>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1291C>T	1.37:g.151396657G>A	ENSP00000271715:p.Pro431Ser					POGZ_ENST00000368863.2_Missense_Mutation_p.P336S|POGZ_ENST00000361398.3_Missense_Mutation_p.P378S|POGZ_ENST00000531094.1_Missense_Mutation_p.P369S|POGZ_ENST00000491586.1_Missense_Mutation_p.P378S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.P422S|POGZ_ENST00000392723.1_Missense_Mutation_p.P378S	p.P431S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	1605	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		431					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.1291C>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	2.488	-0.318081	0.05386	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586	T;T;T;T;T;T;T	0.00940	6.0;6.04;6.0;5.98;6.03;6.02;5.52	5.31	5.31	0.75309	.	0.164825	0.43416	D	0.000578	T	0.00271	0.0008	N	0.11255	0.115	0.58432	D	0.999998	B;B;B;B;B;B	0.18461	0.006;0.002;0.023;0.028;0.011;0.005	B;B;B;B;B;B	0.18561	0.007;0.002;0.015;0.022;0.015;0.003	T	0.54788	-0.8241	10	0.12766	T	0.61	-14.084	7.5394	0.27729	0.0855:0.1676:0.7468:0.0	.	369;422;336;378;378;431	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	S	378;431;378;336;422;369;378	ENSP00000376484:P378S;ENSP00000271715:P431S;ENSP00000354467:P378S;ENSP00000357856:P336S;ENSP00000386836:P422S;ENSP00000431259:P369S;ENSP00000418408:P378S	ENSP00000271715:P431S	P	-	1	0	POGZ	149663281	0.997000	0.39634	0.973000	0.42090	0.967000	0.64934	2.624000	0.46444	2.763000	0.94921	0.563000	0.77884	CCT		0.517	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		27	77	0	0	0	1	0	27	77				
SVEP1	79987	broad.mit.edu	37	9	113173408	113173408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173408G>A	ENST00000401783.2	-	37	6919	c.6583C>T	c.(6583-6585)Cct>Tct	p.P2195S	SVEP1_ENST00000297826.5_Missense_Mutation_p.P121S|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCGGTATAGGACTACTCCAC	0.502																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6583-6585)Cct>Tct		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							106.0	112.0	110.0					9																	113173408		1968	4145	6113	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173408G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6583C>T	9.37:g.113173408G>A	ENSP00000384917:p.Pro2195Ser					SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121S	p.P2195S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			37	6919	-			2195			Sushi 13.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6583C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	6.483	0.457226	0.12342	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64260	-0.09;-0.09;-0.09	6.01	6.01	0.97437	Complement control module (2);Sushi/SCR/CCP (3);	0.394926	0.29822	N	0.011115	T	0.38957	0.1060	N	0.04508	-0.205	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.39210	-0.9625	10	0.07482	T	0.82	.	15.1388	0.72595	0.0:0.0:0.8259:0.174	.	2195	Q4LDE5	SVEP1_HUMAN	S	2195;2172;121	ENSP00000384917:P2195S;ENSP00000363593:P2172S;ENSP00000297826:P121S	ENSP00000297826:P121S	P	-	1	0	SVEP1	112213229	0.840000	0.29493	0.982000	0.44146	0.746000	0.42486	3.326000	0.52037	2.860000	0.98153	0.543000	0.68304	CCT		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	23	0	0	0	1	0	29	23				
FAM47A	158724	broad.mit.edu	37	X	34148928	34148928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34148928T>C	ENST00000346193.3	-	1	1519	c.1468A>G	c.(1468-1470)Agt>Ggt	p.S490G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	490										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTGGAGACTGGACCTCCGA	0.642																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1468-1470)Agt>Ggt		family with sequence similarity 47, member A							48.0	54.0	52.0					X																	34148928		2194	4289	6483	SO:0001583	missense	158724							g.chrX:34148928T>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1468A>G	X.37:g.34148928T>C	ENSP00000345029:p.Ser490Gly						p.S490G	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1519	-			490					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1468A>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	0.559	-0.846071	0.02671	.	.	ENSG00000185448	ENST00000346193	T	0.19532	2.14	0.446	0.446	0.16602	.	.	.	.	.	T	0.09730	0.0239	L	0.27053	0.805	0.09310	N	1	P	0.45594	0.862	B	0.31751	0.135	T	0.24728	-1.0152	8	0.26408	T	0.33	.	.	.	.	.	490	Q5JRC9	FA47A_HUMAN	G	490	ENSP00000345029:S490G	ENSP00000345029:S490G	S	-	1	0	FAM47A	34058849	0.032000	0.19561	0.003000	0.11579	0.030000	0.12068	-0.392000	0.07314	0.363000	0.24346	0.153000	0.16174	AGT		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		34	87	0	0	0	1	0	34	87				
DOCK11	139818	broad.mit.edu	37	X	117712611	117712611	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117712611G>A	ENST00000276202.7	+	13	1575		c.e13+1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCCAGTAAAGGTAATTTATAA	0.328																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e13+1		dedicator of cytokinesis 11							40.0	37.0	38.0					X																	117712611		2203	4300	6503	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117712611G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1512+1G>A	X.37:g.117712611G>A						DOCK11_ENST00000276202.7_Splice_Site|DOCK11_ENST00000498252.1_Splice_Site				Q5JSL3	DOC11_HUMAN			13	1586	+								A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37		CCDS35373.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.582016	0.65992	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.439	0.87560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117596639	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.017000	0.93651	2.437000	0.82529	0.594000	0.82650	.		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Intron	21	30	0	0	0	1	0	21	30				
HAX1	10456	broad.mit.edu	37	1	154246418	154246418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154246418C>T	ENST00000328703.7	+	3	698	c.485C>T	c.(484-486)tCc>tTc	p.S162F	HAX1_ENST00000483970.2_Missense_Mutation_p.S170F|HAX1_ENST00000457918.2_Missense_Mutation_p.S114F|HAX1_ENST00000532105.1_Missense_Mutation_p.S34F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	162	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACTGGGGCTCCCAGAGGCCA	0.527									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(484-486)tCc>tTc		HCLS1 associated protein X-1							63.0	66.0	65.0					1																	154246418		2203	4300	6503	SO:0001583	missense	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246418C>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.485C>T	1.37:g.154246418C>T	ENSP00000329002:p.Ser162Phe					HAX1_ENST00000532105.1_Missense_Mutation_p.S34F|HAX1_ENST00000457918.2_Missense_Mutation_p.S114F|HAX1_ENST00000483970.2_Missense_Mutation_p.S170F	p.S162F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	698	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		162			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.485C>T	CCDS1064.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.035|3.035	-0.198851|-0.198851	0.06219|0.06219	.|.	.|.	ENSG00000143575|ENSG00000143575	ENST00000435087|ENST00000328703;ENST00000457918;ENST00000483970;ENST00000532105	T|T;T;T;T	0.52983|0.65549	0.64|0.88;0.88;0.88;-0.16	5.85|5.85	4.95|4.95	0.65309|0.65309	.|.	.|0.485962	.|0.23132	.|N	.|0.051566	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.43923|0.43923	1.385|1.385	0.29212|0.29212	N|N	0.874504|0.874504	.|B;B;B;B	.|0.09022	.|0.0;0.0;0.002;0.0	.|B;B;B;B	.|0.09377	.|0.002;0.002;0.004;0.002	T|T	0.10965|0.10965	-1.0607|-1.0607	7|10	0.17369|0.10111	T|T	0.5|0.7	-7.2305|-7.2305	11.1501|11.1501	0.48453|0.48453	0.0:0.9149:0.0:0.0851|0.0:0.9149:0.0:0.0851	.|.	.|170;136;114;162	.|O00165-2;O00165-3;O00165-5;O00165	.|.;.;.;HAX1_HUMAN	S|F	141|162;114;170;34	ENSP00000394920:P141S|ENSP00000329002:S162F;ENSP00000411448:S114F;ENSP00000435088:S170F;ENSP00000433951:S34F	ENSP00000394920:P141S|ENSP00000329002:S162F	P|S	+|+	1|2	0|0	HAX1|HAX1	152513042|152513042	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	1.212000|1.212000	0.32394|0.32394	1.481000|1.481000	0.48307|0.48307	-0.244000|-0.244000	0.11960|0.11960	CCC|TCC		0.527	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		36	33	0	0	0	1	0	36	33				
CC2D1A	54862	broad.mit.edu	37	19	14031425	14031425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14031425C>T	ENST00000318003.7	+	13	1653	c.1412C>T	c.(1411-1413)cCc>cTc	p.P471L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P471L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	471					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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 negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCAAGAACTCCCCAGTCGGGA	0.622																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1411-1413)cCc>cTc		coiled-coil and C2 domain containing 1A							39.0	53.0	49.0					19																	14031425		1898	4125	6023	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031425C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1412C>T	19.37:g.14031425C>T	ENSP00000313601:p.Pro471Leu					CC2D1A_ENST00000589606.1_Missense_Mutation_p.P471L	p.P471L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		13	1653	+			471					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1412C>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246854	0.22796	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.22134	1.97	5.47	2.13	0.27403	.	0.410909	0.26944	N	0.021711	T	0.15652	0.0377	L	0.46741	1.465	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.18967	-1.0320	10	0.41790	T	0.15	-1.4828	4.9348	0.13935	0.1681:0.6551:0.0:0.1768	.	471;471	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	L	471;225	ENSP00000313601:P471L	ENSP00000313601:P471L	P	+	2	0	CC2D1A	13892425	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	1.174000	0.31932	0.264000	0.21851	0.555000	0.69702	CCC		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	12	0	0	0	1	0	8	12				
LAMA1	284217	broad.mit.edu	37	18	6950940	6950940	+	Silent	SNP	G	G	A	rs150815120	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:6950940G>A	ENST00000389658.3	-	58	8331	c.8238C>T	c.(8236-8238)ttC>ttT	p.F2746F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2746	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.			F -> L (in Ref. 4). {ECO:0000305}.	axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGCTGGAGGCGAACGTGCGGA	0.507																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8236-8238)ttC>ttT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G		1,4405	2.1+/-5.4	0,1,2202	67.0	57.0	60.0		8238	-3.9	0.6	18	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	LAMA1	NM_005559.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2746/3076	6950940	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6950940G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8238C>T	18.37:g.6950940G>A							p.F2746F	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			58	8331	-		Colorectal(10;0.172)	2746	F -> L (in Ref. 4).		Laminin G-like 4.			Silent	SNP	ENST00000389658.3	37	c.8238C>T	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		11	19	0	0	0	1	0	11	19				
KNSTRN	90417	broad.mit.edu	37	15	40675103	40675103	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40675103G>A	ENST00000249776.8	+	1	182	c.67G>A	c.(67-69)Gat>Aat	p.D23N	KNSTRN_ENST00000416151.2_Missense_Mutation_p.D23N|KNSTRN_ENST00000448395.2_Missense_Mutation_p.D23N|KNSTRN_ENST00000608100.1_5'Flank	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TACAGAGTGCGATTCCCACCC	0.567																																						ENST00000416151.2																			0											c.(67-69)Gat>Aat		kinetochore-localized astrin/SPAG5 binding protein							42.0	45.0	44.0					15																	40675103		1883	4107	5990	SO:0001583	missense	90417							g.chr15:40675103G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.67G>A	15.37:g.40675103G>A	ENSP00000249776:p.Asp23Asn					KNSTRN_ENST00000448395.2_Missense_Mutation_p.D23N|KNSTRN_ENST00000249776.8_Missense_Mutation_p.D23N	p.D23N	NM_001142761.1	NP_001136233.1					1	182	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.67G>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312402	0.40895	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.22539	1.95;1.95;1.95	4.41	2.52	0.30459	.	1.019890	0.07848	N	0.964123	T	0.10208	0.0250	N	0.08118	0	0.09310	N	1	B;B;B	0.30193	0.272;0.272;0.272	B;B;B	0.21917	0.025;0.037;0.037	T	0.20840	-1.0263	10	0.48119	T	0.1	-1.6767	6.0406	0.19732	0.2271:0.0:0.7729:0.0	.	23;23;23	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	N	23	ENSP00000249776:D23N;ENSP00000391233:D23N;ENSP00000393001:D23N	ENSP00000249776:D23N	D	+	1	0	C15orf23	38462395	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.384000	0.20668	1.204000	0.43247	0.655000	0.94253	GAT		0.567	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		19	35	0	0	0	1	0	19	35				
ZNF702P	79986	broad.mit.edu	37	19	53473764	53473764	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53473764C>T	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TATCAATTTTCCCTTTGCTCT	0.368																																						ENST00000600068.1																			0																																																			79986							g.chr19:53473764C>T																													19.37:g.53473764C>T						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.368	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			22	46	0	0	0	1	0	22	46				
HLTF	6596	broad.mit.edu	37	3	148786056	148786056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148786056C>T	ENST00000310053.5	-	8	1154	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	HLTF_ENST00000494055.1_Missense_Mutation_p.E321K|HLTF_ENST00000392912.2_Missense_Mutation_p.E321K|HLTF_ENST00000465259.1_Missense_Mutation_p.E321K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	321					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTAACTCTTTCAATAGGAAGA	0.328																																						ENST00000310053.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(961-963)Gaa>Aaa		helicase-like transcription factor							154.0	165.0	161.0					3																	148786056		2203	4300	6503	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148786056C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.961G>A	3.37:g.148786056C>T	ENSP00000308944:p.Glu321Lys					HLTF_ENST00000392912.2_Missense_Mutation_p.E321K|HLTF_ENST00000494055.1_Missense_Mutation_p.E321K|HLTF_ENST00000465259.1_Missense_Mutation_p.E321K	p.E321K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1154	-			321					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.961G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532310	0.45073	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2	5.71	4.83	0.62350	DEAD-like helicase (1);	.	.	.	.	D	0.85750	0.5769	N	0.24115	0.695	0.43919	D	0.996568	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.14023	0.006;0.01;0.01	T	0.78710	-0.2098	9	0.18710	T	0.47	-11.8229	7.8368	0.29374	0.0:0.749:0.1631:0.0879	.	321;321;321	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	K	321;321;321;321;318;318	ENSP00000420745:E321K;ENSP00000308944:E321K;ENSP00000376644:E321K;ENSP00000420429:E321K	ENSP00000308944:E321K	E	-	1	0	HLTF	150268746	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.747000	0.26290	1.529000	0.49120	0.650000	0.86243	GAA		0.328	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			52	101	0	0	0	1	0	52	101				
LHB	3972	broad.mit.edu	37	19	49519457	49519457	+	Silent	SNP	G	G	A	rs367955056		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49519457G>A	ENST00000221421.2	-	3	293	c.294C>T	c.(292-294)ccC>ccT	p.P98P	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	98					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGGAGACCACGGGGTCCACAC	0.677																																						ENST00000221421.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(292-294)ccC>ccT		luteinizing hormone beta polypeptide	Lutropin alfa(DB00044)|Menotropins(DB00032)	G		0,4406		0,0,2203	72.0	73.0	73.0		294	-0.0	0.6	19		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LHB	NM_000894.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		98/142	49519457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519457G>A		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.294C>T	19.37:g.49519457G>A							p.P98P	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	293	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	98					Q9UDI0	Silent	SNP	ENST00000221421.2	37	c.294C>T	CCDS12748.1																																																																																				0.677	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		39	70	0	0	0	1	0	39	70				
CDH23	64072	broad.mit.edu	37	10	73450305	73450305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:73450305G>A	ENST00000224721.6	+	19	2160	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	CDH23_ENST00000299366.7_Missense_Mutation_p.E759K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	714	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E719K(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACTCCTTGGAAGGCTCCAC	0.622																																						ENST00000224721.6																			1	Substitution - Missense(1)	p.E719K(1)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(2155-2157)Gaa>Aaa		cadherin-related 23							54.0	58.0	57.0					10																	73450305		1943	4139	6082	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73450305G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2155G>A	10.37:g.73450305G>A	ENSP00000224721:p.Glu719Lys					CDH23_ENST00000299366.7_Missense_Mutation_p.E759K	p.E719K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			19	2160	+			714			Cadherin 7.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2155G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.390342	0.82902	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.12	5.12	0.69794	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.57489	0.2057	L	0.31371	0.925	0.80722	D	1	P;P;B	0.48640	0.913;0.617;0.372	P;B;B	0.51945	0.685;0.173;0.403	T	0.49670	-0.8915	9	0.17832	T	0.49	.	18.9406	0.92604	0.0:0.0:1.0:0.0	.	714;717;714	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	K	719;714;714;717;717;231	.	ENSP00000224721:E719K	E	+	1	0	CDH23	73120311	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.153000	0.77428	2.557000	0.86248	0.555000	0.69702	GAA		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	11	0	0	0	1	0	6	11				
ZNF333	84449	broad.mit.edu	37	19	14829728	14829728	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14829728G>A	ENST00000292530.6	+	12	1680	c.1589G>A	c.(1588-1590)gGg>gAg	p.G530E	ZNF333_ENST00000536363.1_Missense_Mutation_p.G421E|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ATACACACAGGGGAGAAACTG	0.522																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1588-1590)gGg>gAg		zinc finger protein 333							103.0	86.0	92.0					19																	14829728		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829728G>A		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1589G>A	19.37:g.14829728G>A	ENSP00000292530:p.Gly530Glu					ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.G421E	p.G530E	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			12	1680	+			530					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1589G>A	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188251	0.78789	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.25749	1.78;1.78	2.72	2.72	0.32119	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	L	0.41079	1.255	0.43579	D	0.995913	D	0.89917	1.0	D	0.97110	1.0	T	0.22347	-1.0219	9	0.56958	D	0.05	.	11.6617	0.51349	0.0:0.0:1.0:0.0	.	530	Q96JL9	ZN333_HUMAN	E	421;530	ENSP00000439749:G421E;ENSP00000292530:G530E	ENSP00000292530:G530E	G	+	2	0	ZNF333	14690728	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	5.402000	0.66332	1.846000	0.53633	0.655000	0.94253	GGG		0.522	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		16	46	0	0	0	1	0	16	46				
TTC25	83538	broad.mit.edu	37	17	40091559	40091559	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091559G>A	ENST00000591658.1	+	0	272							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GATCCCTGAAGGATGCTGAGG	0.527																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							58.0	57.0	57.0					17																	40091559		1962	4157	6119			83538					cytoplasm	protein binding	g.chr17:40091559G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091559G>A										Q96NG3	TTC25_HUMAN			0	272	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37																																																																																						0.527	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		17	23	0	0	0	1	0	17	23				
RASL10A	10633	broad.mit.edu	37	22	29708406	29708406	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708406C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P429S|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000403764.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCCCCGCCGCCCCTCCGGACC	0.672																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1285-1287)Ccc>Tcc		growth arrest-specific 2 like 1							19.0	25.0	23.0					22																	29708406		1933	4127	6060	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708406C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708406C>T						GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR	p.P429S			Q99501	GA2L1_HUMAN			6	1435	+			656					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1285C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234800	0.39498	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.43294	0.95	4.18	4.18	0.49190	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.80722	D	1	P;P;P	0.43477	0.808;0.808;0.808	B;B;B	0.41332	0.354;0.354;0.354	T	0.46582	-0.9181	8	0.72032	D	0.01	-3.2086	13.5523	0.61738	0.0:1.0:0.0:0.0	.	429;656;656	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	S	655;429	ENSP00000383995:P429S	ENSP00000332834:P655S	P	+	1	0	GAS2L1	28038406	0.636000	0.27207	0.984000	0.44739	0.246000	0.25737	4.726000	0.61986	2.167000	0.68274	0.491000	0.48974	CCC		0.672	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			12	19	0	0	0	1	0	12	19				
LRRC37A11P	342666	broad.mit.edu	37	17	37187872	37187872	+	RNA	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:37187872A>G	ENST00000425901.2	+	0	1714					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		TCACAGTTCAACCTTTGGATC	0.488																																						ENST00000425901.2																			0																																																			342666							g.chr17:37187872A>G			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187872A>G								NR_033753.2						0	1714	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		20	34	0	0	0	1	0	20	34				
SLC35B2	347734	broad.mit.edu	37	6	44224579	44224579	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224579G>A	ENST00000393812.3	-	2	191	c.48C>T	c.(46-48)tcC>tcT	p.S16S	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.S16S|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	16					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCCCCTAGGGAGGGGAACG	0.607																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(46-48)tcC>tcT		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							64.0	69.0	68.0					6																	44224579		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224579G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.48C>T	6.37:g.44224579G>A						SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.S16S|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	p.S16S	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	191	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		16					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.48C>T	CCDS34462.1																																																																																				0.607	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			8	38	0	0	0	1	0	8	38				
SCN1B	6324	broad.mit.edu	37	19	35524767	35524767	+	Intron	SNP	G	G	A	rs367608185		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35524767G>A	ENST00000262631.5	+	3	585				SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000415950.3_Missense_Mutation_p.R191Q|SCN1B_ENST00000595652.1_Intron|CTD-2527I21.9_ENST00000601692.1_RNA	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit						axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACAGCAGCGGGCTGAGGGG	0.657																																						ENST00000415950.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11						c.(571-573)cGg>cAg		sodium channel, voltage-gated, type I, beta subunit		A	,GLN/ARG	0,2630		0,0,1315	12.0	16.0	15.0		,572	-4.3	0.0	19		15	1,4585		0,1,2292	no	intron,missense	SCN1B	NM_001037.4,NM_199037.3	,43	0,1,3607	AA,AG,GG		0.0218,0.0,0.0139	,benign	,191/269	35524767	1,7215	1315	2293	3608	SO:0001627	intron_variant	6324				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	g.chr19:35524767G>A		CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10586	protein-coding gene	gene with protein product		600235	"""sodium channel, voltage-gated, type I, beta polypeptide"", ""sodium channel, voltage-gated, type I, beta"""			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.448+124G>A	19.37:g.35524767G>A						SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron	p.R191Q	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	572	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		0					Q5TZZ4|Q6TN97	Missense_Mutation	SNP	ENST00000262631.5	37	c.572G>A	CCDS12441.1	.	.	.	.	.	.	.	.	.	.	g	2.917	-0.224132	0.06061	0.0	2.18E-4	ENSG00000105711	ENST00000415950	D	0.89939	-2.59	3.96	-4.35	0.03656	.	.	.	.	.	T	0.75961	0.3921	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58989	-0.7538	7	.	.	.	-7.2586	6.0846	0.19960	0.516:0.1352:0.3488:0.0	.	191	Q07699-2	.	Q	191	ENSP00000396915:R191Q	.	R	+	2	0	SCN1B	40216607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.577000	0.02127	-0.803000	0.04415	-1.163000	0.01768	CGG		0.657	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461567.1			7	10	0	0	0	1	0	7	10				
FAM53A	152877	broad.mit.edu	37	4	1643077	1643077	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1643077C>T	ENST00000308132.6	-	5	1332	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	FAM53A_ENST00000472884.2_Silent_p.E380E|FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000461064.1_Silent_p.E380E	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	380						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGAAGACGCCCTCCTCCCCGA	0.697																																						ENST00000308132.6																			0				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1138-1140)gaG>gaA		family with sequence similarity 53, member A							29.0	34.0	32.0					4																	1643077		2203	4299	6502	SO:0001819	synonymous_variant	152877					nucleus		g.chr4:1643077C>T	BC070112	CCDS33939.1, CCDS75091.1	4p16.3	2005-08-09			ENSG00000174137	ENSG00000174137			31860	protein-coding gene	gene with protein product							Standard	NM_001013622		Approved	DNTNP	uc021xkl.1	Q6NSI3	OTTHUMG00000159855	ENST00000308132.6:c.1140G>A	4.37:g.1643077C>T						FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Silent_p.E380E|FAM53A_ENST00000461064.1_Silent_p.E380E	p.E380E	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		5	1332	-		all_epithelial(65;0.206)|Breast(71;0.212)	380					Q6ZUL5	Silent	SNP	ENST00000308132.6	37	c.1140G>A	CCDS33939.1																																																																																				0.697	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	NM_001013622		10	35	0	0	0	1	0	10	35				
NACA	4666	broad.mit.edu	37	12	57112046	57112046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57112046G>A	ENST00000454682.1	-	3	3549	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1090	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTCCTTTTGGGGAGGGAGGA	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3268-3270)Cca>Tca		nascent polypeptide-associated complex alpha subunit							41.0	49.0	47.0					12																	57112046		1332	2980	4312	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112046G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3268C>T	12.37:g.57112046G>A	ENSP00000403817:p.Pro1090Ser					NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	p.P1090S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3549	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3268C>T		.	.	.	.	.	.	.	.	.	.	g	6.499	0.460176	0.12342	.	.	ENSG00000196531	ENST00000454682	T	0.44083	0.93	2.91	0.862	0.19056	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.15093	-1.0449	7	.	.	.	.	7.2032	0.25893	0.3415:0.0:0.6585:0.0	.	1090	E9PAV3	.	S	1090	ENSP00000403817:P1090S	.	P	-	1	0	NACA	55398313	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	0.121000	0.15667	0.407000	0.25591	0.281000	0.19383	CCA		0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		30	51	0	0	0	1	0	30	51				
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:104449125G>A	ENST00000361820.3	-	2	1657	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGCACCCAACGAAGTTCAGGG	0.512																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(1057-1059)Cgt>Tgt		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						65.0	60.0	62.0					9																	104449125		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449125G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1057C>T	9.37:g.104449125G>A	ENSP00000355155:p.Arg353Cys						p.R353C	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1657	-		Acute lymphoblastic leukemia(62;0.0568)	353					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1057C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722160	0.48728	.	.	ENSG00000198785	ENST00000361820	D	0.86164	-2.08	5.83	5.83	0.93111	.	0.446510	0.23680	N	0.045624	D	0.83193	0.5201	N	0.19112	0.55	0.49213	D	0.999766	P	0.45396	0.857	P	0.44860	0.462	T	0.82778	-0.0289	10	0.37606	T	0.19	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	353	Q8TCU5	NMD3A_HUMAN	C	353	ENSP00000355155:R353C	ENSP00000355155:R353C	R	-	1	0	GRIN3A	103488946	1.000000	0.71417	0.640000	0.29408	0.555000	0.35460	9.601000	0.98297	2.763000	0.94921	0.563000	0.77884	CGT		0.512	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	6	0	0	0	1	0	26	6				
COL6A3	1293	broad.mit.edu	37	2	238296310	238296310	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:238296310C>T	ENST00000295550.4	-	4	1679	c.1227G>A	c.(1225-1227)ggG>ggA	p.G409G	COL6A3_ENST00000409809.1_Silent_p.G203G|COL6A3_ENST00000392004.3_Silent_p.G203G|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Silent_p.G409G|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.G203G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	409	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTGGAGGTCCCCAAAGCTAC	0.532																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(1225-1227)ggG>ggA		collagen, type VI, alpha 3							58.0	53.0	55.0					2																	238296310		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238296310C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1227G>A	2.37:g.238296310C>T						COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.G203G|COL6A3_ENST00000392004.3_Silent_p.G203G|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.G203G|COL6A3_ENST00000346358.4_Silent_p.G409G	p.G409G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	4	1679	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	409			Nonhelical region.|VWFA 2.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.1227G>A	CCDS33412.1																																																																																				0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	10	0	0	0	1	0	7	10				
CYP4F2	8529	broad.mit.edu	37	19	15997098	15997098	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15997098T>A	ENST00000221700.6	-	8	1034	c.939A>T	c.(937-939)ttA>ttT	p.L313F	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTCATCAGATAACTTCTTCC	0.537																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(937-939)ttA>ttT		cytochrome P450, family 4, subfamily F, polypeptide 2							190.0	191.0	191.0					19																	15997098		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15997098T>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.939A>T	19.37:g.15997098T>A	ENSP00000221700:p.Leu313Phe					CYP4F2_ENST00000592328.1_Missense_Mutation_p.L313F|CYP4F2_ENST00000011989.7_Intron	p.L313F	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			8	1034	-			313						Missense_Mutation	SNP	ENST00000221700.6	37	c.939A>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	N	10.01	1.234208	0.22626	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72615	-0.67	2.73	1.66	0.24008	.	0.000000	0.51477	U	0.000100	T	0.80449	0.4625	M	0.79011	2.435	0.80722	D	1	D	0.64830	0.994	D	0.79108	0.992	T	0.78800	-0.2062	10	0.87932	D	0	.	7.4274	0.27107	0.0:0.8587:0.0:0.1413	.	313	P78329	CP4F2_HUMAN	F	313;164	ENSP00000221700:L313F	ENSP00000221700:L313F	L	-	3	2	CYP4F2	15858098	0.980000	0.34600	0.432000	0.26747	0.053000	0.15095	0.357000	0.20199	0.460000	0.27045	-0.696000	0.03686	TTA		0.537	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		91	136	0	0	0	1	0	91	136				
IKZF4	64375	broad.mit.edu	37	12	56428581	56428581	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428581C>T	ENST00000262032.5	+	12	1591	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	IKZF4_ENST00000431367.2_Silent_p.P306P|IKZF4_ENST00000547791.1_Silent_p.P363P|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.P408P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	408					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGATGCAGCCCCTCCCTGGTC	0.632																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1222-1224)ccC>ccT		IKAROS family zinc finger 4 (Eos)							60.0	59.0	60.0					12																	56428581		1992	4173	6165	SO:0001819	synonymous_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428581C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1224C>T	12.37:g.56428581C>T						RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P363P|IKZF4_ENST00000547167.1_Silent_p.P408P|IKZF4_ENST00000431367.2_Silent_p.P306P	p.P408P			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1591	+			408					Q96JP3	Silent	SNP	ENST00000262032.5	37	c.1224C>T	CCDS44917.1																																																																																				0.632	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		23	31	0	0	0	1	0	23	31				
APOL5	80831	broad.mit.edu	37	22	36123124	36123124	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:36123124G>A	ENST00000249044.2	+	3	1009	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	337					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAAGAAGCTGGAGCAGGAGCT	0.622																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1009-1011)Gag>Aag		apolipoprotein L, 5							28.0	30.0	29.0					22																	36123124		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36123124G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1009G>A	22.37:g.36123124G>A	ENSP00000249044:p.Glu337Lys						p.E337K	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	1009	+			337					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.1009G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870286	0.51588	.	.	ENSG00000128313	ENST00000249044	T	0.04706	3.57	4.02	1.87	0.25490	.	0.931897	0.08881	U	0.880045	T	0.16385	0.0394	M	0.75777	2.31	0.09310	N	1	D	0.65815	0.995	D	0.66602	0.945	T	0.13522	-1.0506	10	0.87932	D	0	.	4.7613	0.13110	0.1257:0.2506:0.6237:0.0	.	337	Q9BWW9	APOL5_HUMAN	K	337	ENSP00000249044:E337K	ENSP00000249044:E337K	E	+	1	0	APOL5	34453070	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.181000	0.16880	0.671000	0.31185	0.655000	0.94253	GAG		0.622	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		16	27	0	0	0	1	0	16	27				
ANKRD30A	91074	broad.mit.edu	37	10	37419291	37419291	+	Silent	SNP	C	C	T	rs200101337		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37419291C>T	ENST00000602533.1	+	3	426	c.327C>T	c.(325-327)atC>atT	p.I109I	ANKRD30A_ENST00000374660.1_Silent_p.I109I|ANKRD30A_ENST00000361713.1_Silent_p.I109I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	165					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGCAGTCATCGAAGTGCACA	0.353																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(325-327)atC>atT		ankyrin repeat domain 30A							76.0	68.0	70.0					10																	37419291		1911	4133	6044	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419291C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.327C>T	10.37:g.37419291C>T						ANKRD30A_ENST00000602533.1_Silent_p.I109I|ANKRD30A_ENST00000361713.1_Silent_p.I109I	p.I109I			Q9BXX3	AN30A_HUMAN			3	426	+			165					Q5W025	Silent	SNP	ENST00000602533.1	37	c.327C>T																																																																																					0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		23	28	0	0	0	1	0	23	28				
TBL3	10607	broad.mit.edu	37	16	2025848	2025848	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2025848C>T	ENST00000568546.1	+	11	1155	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	343					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TGTCCGGTTTCTTGGGCCCGA	0.607																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(1027-1029)Ctt>Ttt		transducin (beta)-like 3							111.0	106.0	107.0					16																	2025848		2198	4300	6498	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025848C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.1027C>T	16.37:g.2025848C>T	ENSP00000454836:p.Leu343Phe						p.L343F	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			11	1155	+			343					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.1027C>T	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134388	0.37630	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.75	4.75	0.60458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.320719	0.25529	N	0.030042	T	0.67859	0.2938	L	0.39898	1.24	0.53688	D	0.999975	D;D	0.71674	0.997;0.998	D;D	0.69479	0.964;0.927	T	0.69510	-0.5126	9	0.51188	T	0.08	-13.7809	16.7111	0.85385	0.0:1.0:0.0:0.0	.	105;343	A0JLS5;Q12788	.;TBL3_HUMAN	F	343	.	ENSP00000331815:L343F	L	+	1	0	TBL3	1965849	1.000000	0.71417	0.954000	0.39281	0.078000	0.17371	2.046000	0.41260	2.194000	0.70268	0.561000	0.74099	CTT		0.607	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		49	62	0	0	0	1	0	49	62				
TRAV8-3	28683	broad.mit.edu	37	14	22321084	22321084	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22321084G>A	ENST00000390435.1	+	0	242									T cell receptor alpha variable 8-3																		GGCATTAAAGGCTTTGAGGCT	0.502																																						ENST00000390435.1																			0																				55.0	54.0	54.0					14																	22321084		1952	4138	6090			28683							g.chr14:22321084G>A	AE000659		14q11.2	2012-02-07			ENSG00000211787	ENSG00000211787		"""T cell receptors / TRA locus"""	12148	other	T cell receptor gene						8188290, 2971534	Standard	NG_001332		Approved				OTTHUMG00000168992		14.37:g.22321084G>A														0	242	+									RNA	SNP	ENST00000390435.1	37																																																																																						0.502	TRAV8-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401890.1	NG_001332		18	28	0	0	0	1	0	18	28				
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:34809819G>A	ENST00000338074.2	+	20	2634	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	825	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2473-2475)Gag>Aag		erythrocyte membrane protein band 4.1-like 1							134.0	109.0	117.0					20																	34809819		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34809819G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2473G>A	20.37:g.34809819G>A	ENSP00000337168:p.Glu825Lys					EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K	p.E825K	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			20	2634	+	Breast(12;0.0239)		825			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.2473G>A	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658836	0.96734	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.47	5.47	0.80525	Band 4.1, C-terminal (1);	.	.	.	.	D	0.92570	0.7640	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;P	0.87578	0.998;0.988;0.996;0.988;0.885	D	0.93216	0.6604	9	0.87932	D	0	.	18.3231	0.90246	0.0:0.0:1.0:0.0	.	825;645;716;716;723	Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	E41L1_HUMAN;.;.;.;.	K	723;716;716;723;645;825;824;186	ENSP00000202028:E723K;ENSP00000363061:E716K;ENSP00000399214:E723K;ENSP00000363057:E645K;ENSP00000337168:E825K;ENSP00000363052:E824K;ENSP00000388281:E186K	ENSP00000202028:E723K	E	+	1	0	EPB41L1	34273233	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.564000	0.86499	0.462000	0.41574	GAG		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		36	69	0	0	0	1	0	36	69				
NNT	23530	broad.mit.edu	37	5	43651923	43651923	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:43651923C>T	ENST00000264663.5	+	13	2021	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	NNT_ENST00000344920.4_Silent_p.L600L|NNT_ENST00000512996.2_Silent_p.L469L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	600					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGTACCTGCTCCCTGCCGGCA	0.453																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1798-1800)ctC>ctT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						158.0	160.0	159.0					5																	43651923		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43651923C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1800C>T	5.37:g.43651923C>T						NNT_ENST00000512996.2_Silent_p.L469L|NNT_ENST00000344920.4_Silent_p.L600L	p.L600L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			13	2021	+	Lung NSC(6;2.58e-06)		600					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.1800C>T	CCDS3949.1																																																																																				0.453	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		56	105	0	0	0	1	0	56	105				
BCAP31	10134	broad.mit.edu	37	X	152981081	152981081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152981081G>A	ENST00000345046.6	-	4	664	c.257C>T	c.(256-258)cCc>cTc	p.P86L	BCAP31_ENST00000468947.1_5'UTR|BCAP31_ENST00000458587.2_Missense_Mutation_p.P153L|BCAP31_ENST00000441714.1_Missense_Mutation_p.P86L	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	86					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCCCCGGGATTGTTCTG	0.537																																						ENST00000458587.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(457-459)cCc>cTc		B-cell receptor-associated protein 31							175.0	133.0	147.0					X																	152981081		2203	4300	6503	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152981081G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.257C>T	X.37:g.152981081G>A	ENSP00000343458:p.Pro86Leu					BCAP31_ENST00000345046.6_Missense_Mutation_p.P86L|BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.P86L	p.P153L	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN			4	887	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		86					B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.458C>T	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424536	0.62733	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.37561	1.115	0.80722	D	1	B;P	0.39157	0.213;0.662	B;B	0.42112	0.18;0.376	T	0.53315	-0.8456	9	0.37606	T	0.19	-12.8418	16.8984	0.86107	0.0:0.0:1.0:0.0	.	86;153	P51572;B3KQ79	BAP31_HUMAN;.	L	86;86;153;153;86;86;86;86;86	.	ENSP00000343458:P86L	P	-	2	0	BCAP31	152634275	1.000000	0.71417	0.868000	0.34077	0.958000	0.62258	6.932000	0.75869	2.252000	0.74401	0.468000	0.43344	CCC		0.537	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		57	97	0	0	0	1	0	57	97				
GPC6	10082	broad.mit.edu	37	13	94938602	94938602	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:94938602G>A	ENST00000377047.4	+	5	1492		c.e5-1			NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6						carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TATTTTAACAGATGCAATGCT	0.418																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.e5-1		glypican 6							57.0	53.0	55.0					13																	94938602		2203	4300	6503	SO:0001630	splice_region_variant	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94938602G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.878-1G>A	13.37:g.94938602G>A								NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			5	1492	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)						A8K279|Q96SG5|Q96SG8|Q9H1P4	Splice_Site	SNP	ENST00000377047.4	37		CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886898	0.91814	.	.	ENSG00000183098	ENST00000377047	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7123	0.96100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPC6	93736603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.464000	0.97655	2.661000	0.90470	0.585000	0.79938	.		0.418	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708	Intron	10	24	0	0	0	1	0	10	24				
ZNF792	126375	broad.mit.edu	37	19	35450170	35450170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:35450170G>A	ENST00000404801.1	-	4	975	c.589C>T	c.(589-591)Cct>Tct	p.P197S	ZNF792_ENST00000605484.1_Missense_Mutation_p.P130S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTCTTTACAGGGGAAGCCTGG	0.552																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(589-591)Cct>Tct		zinc finger protein 792							210.0	199.0	203.0					19																	35450170		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450170G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.589C>T	19.37:g.35450170G>A	ENSP00000385099:p.Pro197Ser					ZNF792_ENST00000605484.1_Missense_Mutation_p.P130S	p.P197S	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	975	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		197					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.589C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	10.12	1.264331	0.23136	.	.	ENSG00000180884	ENST00000404801	T	0.05513	3.43	3.16	-4.09	0.03951	.	.	.	.	.	T	0.03477	0.0100	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43540	-0.9385	9	0.59425	D	0.04	.	1.5372	0.02548	0.4863:0.1503:0.2112:0.1522	.	197	Q3KQV3	ZN792_HUMAN	S	197	ENSP00000385099:P197S	ENSP00000385099:P197S	P	-	1	0	ZNF792	40142010	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.729000	0.04875	-0.373000	0.07131	CCT		0.552	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		73	138	0	0	0	1	0	73	138				
PCLO	27445	broad.mit.edu	37	7	82763683	82763683	+	Silent	SNP	G	G	A	rs377681612		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:82763683G>A	ENST00000333891.9	-	3	3520	c.3183C>T	c.(3181-3183)ctC>ctT	p.L1061L	PCLO_ENST00000423517.2_Silent_p.L1061L	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						CAGTTTTGCAGAGAGGACAGG	0.418																																						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.(3181-3183)ctC>ctT		piccolo presynaptic cytomatrix protein							75.0	70.0	71.0					7																	82763683		1888	4111	5999	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.chr7:82763683G>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.3183C>T	7.37:g.82763683G>A						PCLO_ENST00000333891.8_Silent_p.L1061L	p.L1061L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3520	-			1007						Silent	SNP	ENST00000333891.9	37	c.3183C>T	CCDS47630.1																																																																																				0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	19	0	0	0	1	0	14	19				
PTCD2	79810	broad.mit.edu	37	5	71648571	71648571	+	Missense_Mutation	SNP	C	C	T	rs558965571		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:71648571C>T	ENST00000380639.5	+	9	948	c.932C>T	c.(931-933)tCg>tTg	p.S311L	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.S139L|PTCD2_ENST00000503868.1_Missense_Mutation_p.S202L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	311					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATGTGTTCTCGGAGGAAGTG	0.333													C|||	1	0.000199681	0.0	0.0	5008	,	,		19634	0.0		0.0	False		,,,				2504	0.001					ENST00000380639.5																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11						c.(931-933)tCg>tTg		pentatricopeptide repeat domain 2							53.0	54.0	54.0					5																	71648571		2203	4300	6503	SO:0001583	missense	79810							g.chr5:71648571C>T	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.932C>T	5.37:g.71648571C>T	ENSP00000370013:p.Ser311Leu					PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.S202L|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.S139L	p.S311L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	9	948	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	311					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.932C>T	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180003	0.78564	.	.	ENSG00000049883	ENST00000380639;ENST00000503868;ENST00000510676;ENST00000536805	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.73	5.73	0.89815	.	0.068948	0.64402	D	0.000011	T	0.65375	0.2685	M	0.80616	2.505	0.51233	D	0.999917	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.65773	0.886;0.938;0.869	T	0.62421	-0.6858	10	0.08837	T	0.75	.	15.4156	0.74966	0.0:1.0:0.0:0.0	.	202;139;311	E9PFV7;B7Z8L7;Q8WV60	.;.;PTCD2_HUMAN	L	311;202;140;139	ENSP00000370013:S311L;ENSP00000427349:S202L;ENSP00000426295:S140L;ENSP00000444772:S139L	ENSP00000308948:S311L	S	+	2	0	PTCD2	71684327	1.000000	0.71417	0.999000	0.59377	0.546000	0.35178	4.130000	0.57964	2.699000	0.92147	0.650000	0.86243	TCG		0.333	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		13	15	0	0	0	1	0	13	15				
ABCC1	4363	broad.mit.edu	37	16	16218718	16218718	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16218718C>T	ENST00000399410.3	+	25	3838	c.3663C>T	c.(3661-3663)tcC>tcT	p.S1221S	ABCC1_ENST00000349029.5_Silent_p.S1106S|ABCC1_ENST00000351154.5_Silent_p.S1162S|ABCC1_ENST00000399408.2_Silent_p.S1231S|ABCC1_ENST00000346370.5_Silent_p.S1165S|ABCC1_ENST00000345148.5_Silent_p.S1221S	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1221	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CGGTGATCTCCAGGCACAGCC	0.557																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3691-3693)tcC>tcT		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						98.0	108.0	105.0					16																	16218718		2122	4242	6364	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16218718C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3663C>T	16.37:g.16218718C>T						ABCC1_ENST00000349029.5_Silent_p.S1106S|ABCC1_ENST00000345148.5_Silent_p.S1221S|ABCC1_ENST00000346370.5_Silent_p.S1165S|ABCC1_ENST00000399410.3_Silent_p.S1221S|ABCC1_ENST00000351154.5_Silent_p.S1162S	p.S1231S			P33527	MRP1_HUMAN			26	3868	+			1221			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3693C>T	CCDS42122.1																																																																																				0.557	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		23	42	0	0	0	1	0	23	42				
L3MBTL2	83746	broad.mit.edu	37	22	41625593	41625593	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:41625593G>A	ENST00000216237.5	+	16	2096	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	646					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGGTCCAAGAAGCCCCTGC	0.557																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1936-1938)aaG>aaA		l(3)mbt-like 2 (Drosophila)							49.0	51.0	50.0					22																	41625593		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41625593G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1938G>A	22.37:g.41625593G>A						CHADL_ENST00000216241.9_3'UTR	p.K646K	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			16	2096	+			646					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1938G>A	CCDS14011.1																																																																																				0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		17	27	0	0	0	1	0	17	27				
CDK1	983	broad.mit.edu	37	10	62553652	62553652	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:62553652T>G	ENST00000395284.3	+	8	955	c.813T>G	c.(811-813)gaT>gaG	p.D271E	CDK1_ENST00000316629.4_Missense_Mutation_p.D214E|CDK1_ENST00000448257.2_Missense_Mutation_p.D271E|CDK1_ENST00000373809.2_Missense_Mutation_p.D214E	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|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)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						TAATCTATGATCCAGCCAAAC	0.294																																						ENST00000448257.2																			0				ovary(1)	1						c.(811-813)gaT>gaG		cyclin-dependent kinase 1							62.0	63.0	63.0					10																	62553652		2202	4294	6496	SO:0001583	missense	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62553652T>G	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.813T>G	10.37:g.62553652T>G	ENSP00000378699:p.Asp271Glu					CDK1_ENST00000395284.3_Missense_Mutation_p.D271E|CDK1_ENST00000316629.4_Missense_Mutation_p.D214E|CDK1_ENST00000373809.2_Missense_Mutation_p.D214E	p.D271E			P06493	CDK1_HUMAN			8	1014	+			271			Protein kinase.		A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	c.813T>G	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.361351	0.41801	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	4.89	0.63831	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046228	0.85682	D	0.000000	T	0.53834	0.1821	M	0.74881	2.28	0.58432	D	0.999996	B;B;B	0.32573	0.296;0.376;0.367	B;B;B	0.42593	0.251;0.286;0.392	T	0.53187	-0.8474	10	0.42905	T	0.14	-14.5129	9.0509	0.36376	0.0:0.1396:0.0:0.8604	.	214;277;271	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	E	271;214;271;214	ENSP00000378699:D271E;ENSP00000325970:D214E;ENSP00000397973:D271E;ENSP00000362915:D214E	ENSP00000325970:D214E	D	+	3	2	CDK1	62223658	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.679000	0.37597	1.112000	0.41740	0.533000	0.62120	GAT		0.294	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		22	31	0	0	0	1	0	22	31				
CPA6	57094	broad.mit.edu	37	8	68334806	68334806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:68334806G>A	ENST00000297770.4	-	11	1462	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	CPA6_ENST00000297769.4_Missense_Mutation_p.P172L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	416						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			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)			TGTACAGGTGGGTTTGATGAG	0.433																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(1246-1248)cCc>cTc		carboxypeptidase A6							175.0	173.0	173.0					8																	68334806		2203	4300	6503	SO:0001583	missense	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68334806G>A	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.1247C>T	8.37:g.68334806G>A	ENSP00000297770:p.Pro416Leu					CPA6_ENST00000297769.4_Missense_Mutation_p.P172L	p.P416L	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	1462	-			416					Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	c.1247C>T	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162451	0.78226	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.34072	1.38;2.62	5.86	5.86	0.93980	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	H	0.97440	4.005	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.83216	-0.0071	10	0.56958	D	0.05	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	172;416	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	L	172;416	ENSP00000297769:P172L;ENSP00000297770:P416L	ENSP00000297769:P172L	P	-	2	0	CPA6	68497360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.445000	0.97587	2.777000	0.95525	0.591000	0.81541	CCC		0.433	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		55	90	0	0	0	1	0	55	90				
LRRIQ3	127255	broad.mit.edu	37	1	74492517	74492517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492517G>A	ENST00000395089.1	-	7	1854	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P619S			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTCCATTGGGAACTTTAAAG	0.289																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1855-1857)Ccc>Tcc		leucine-rich repeats and IQ motif containing 3							117.0	106.0	109.0					1																	74492517		1819	4061	5880	SO:0001583	missense	127255							g.chr1:74492517G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1855C>T	1.37:g.74492517G>A	ENSP00000378524:p.Pro619Ser					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S	p.P619S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	2046	-			619					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1855C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380302	0.42207	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.20332	2.08;2.08	4.39	2.53	0.30540	.	.	.	.	.	T	0.05044	0.0135	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.37126	-0.9719	9	0.87932	D	0	.	6.9339	0.24457	0.2026:0.0:0.7974:0.0	.	619	A6PVS8	LRIQ3_HUMAN	S	619	ENSP00000378524:P619S;ENSP00000346414:P619S	ENSP00000346414:P619S	P	-	1	0	LRRIQ3	74265105	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.296000	0.19083	0.803000	0.34113	-0.768000	0.03414	CCC		0.289	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		7	22	0	0	0	1	0	7	22				
STAG2	10735	broad.mit.edu	37	X	123217344	123217344	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123217344C>T	ENST00000371160.1	+	29	3288	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F	STAG2_ENST00000218089.9_Missense_Mutation_p.L1000F|STAG2_ENST00000371157.3_Missense_Mutation_p.L1000F|STAG2_ENST00000371144.3_Missense_Mutation_p.L1000F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.L931F|STAG2_ENST00000371145.3_Missense_Mutation_p.L1000F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1000					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTGGCATTTCTTGATATTCT	0.338																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2998-3000)Ctt>Ttt		stromal antigen 2							82.0	78.0	80.0					X																	123217344		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123217344C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2998C>T	X.37:g.123217344C>T	ENSP00000360202:p.Leu1000Phe					STAG2_ENST00000371157.3_Missense_Mutation_p.L1000F|STAG2_ENST00000218089.9_Missense_Mutation_p.L1000F|STAG2_ENST00000354548.5_Missense_Mutation_p.L931F|STAG2_ENST00000371145.3_Missense_Mutation_p.L1000F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L1000F	p.L1000F			Q8N3U4	STAG2_HUMAN			29	3288	+			1000					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2998C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004723	0.74932	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.92244	0.7540	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93307	0.6681	10	0.51188	T	0.08	-16.0648	16.9505	0.86244	0.0:1.0:0.0:0.0	.	1000;1000	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	1000;931;1000;1000;1000;1000	ENSP00000218089:L1000F;ENSP00000346555:L931F;ENSP00000360202:L1000F;ENSP00000360199:L1000F;ENSP00000360187:L1000F;ENSP00000360186:L1000F	ENSP00000218089:L1000F	L	+	1	0	STAG2	123045025	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.751000	0.62169	2.007000	0.58848	0.506000	0.49869	CTT		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		39	58	0	0	0	1	0	39	58				
SAG	6295	broad.mit.edu	37	2	234229350	234229350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:234229350G>A	ENST00000409110.1	+	5	486	c.256G>A	c.(256-258)Gac>Aac	p.D86N	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	86					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CTTCCGCAGGGACCTGTACTT	0.587																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(256-258)Gac>Aac		S-antigen; retina and pineal gland (arrestin)							36.0	39.0	38.0					2																	234229350		2074	4238	6312	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234229350G>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.256G>A	2.37:g.234229350G>A	ENSP00000386444:p.Asp86Asn					SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	p.D86N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	5	486	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	86					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.256G>A	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455795	0.96223	.	.	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110	T;T	0.29655	1.56;1.56	4.46	4.46	0.54185	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.099528	0.64402	D	0.000002	T	0.64011	0.2560	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73757	-0.3882	10	0.87932	D	0	-35.8816	17.7003	0.88292	0.0:0.0:1.0:0.0	.	86	P10523	ARRS_HUMAN	N	86	ENSP00000408937:D86N;ENSP00000386444:D86N	ENSP00000252857:D86N	D	+	1	0	SAG	233894089	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.125000	0.94402	2.474000	0.83562	0.655000	0.94253	GAC		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		3	6	0	0	0	1	0	3	6				
TBX2	6909	broad.mit.edu	37	17	59479268	59479268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:59479268C>T	ENST00000240328.3	+	2	900	c.619C>T	c.(619-621)Cac>Tac	p.H207Y	RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	207					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TGTGGCCTTCCACAAGCTGAA	0.617																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(619-621)Cac>Tac		T-box 2							60.0	50.0	53.0					17																	59479268		2203	4300	6503	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59479268C>T	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.619C>T	17.37:g.59479268C>T	ENSP00000240328:p.His207Tyr					RP11-332H18.4_ENST00000592009.1_RNA	p.H207Y	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			2	900	+			207					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.619C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921654	0.92319	.	.	ENSG00000121068	ENST00000240328;ENST00000424871	D	0.89746	-2.56	4.92	4.92	0.64577	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93278	0.7858	M	0.71920	2.185	0.80722	D	1	P;D	0.76494	0.795;0.999	P;D	0.75484	0.732;0.986	D	0.93052	0.6466	10	0.51188	T	0.08	.	13.8977	0.63783	0.1525:0.8475:0.0:0.0	.	207;144	Q13207;Q59FT1	TBX2_HUMAN;.	Y	207;182	ENSP00000240328:H207Y	ENSP00000240328:H207Y	H	+	1	0	TBX2	56834050	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.736000	0.62059	2.551000	0.86045	0.561000	0.74099	CAC		0.617	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		20	51	0	0	0	1	0	20	51				
IL1RAPL2	26280	broad.mit.edu	37	X	104728346	104728346	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:104728346G>A	ENST00000372582.1	+	6	1495	c.739G>A	c.(739-741)Gag>Aag	p.E247K	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E247K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	247	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCCCCATGGAGAATCAGCC	0.408																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(739-741)Gag>Aag		interleukin 1 receptor accessory protein-like 2							107.0	96.0	99.0					X																	104728346		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104728346G>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.739G>A	X.37:g.104728346G>A	ENSP00000361663:p.Glu247Lys					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E247K	p.E247K	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			6	1495	+			247			Ig-like C2-type 3.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.739G>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119099	0.56505	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03496	3.91;3.91	5.88	5.02	0.67125	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.06690	0.0171	L	0.61218	1.895	0.80722	D	1	P	0.43826	0.818	P	0.44597	0.454	T	0.40979	-0.9534	10	0.10377	T	0.69	.	13.1734	0.59613	0.0779:0.0:0.9221:0.0	.	247	Q9NP60	IRPL2_HUMAN	K	247	ENSP00000361663:E247K;ENSP00000344976:E247K	ENSP00000344976:E247K	E	+	1	0	IL1RAPL2	104615002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.439000	0.66556	1.233000	0.43693	0.600000	0.82982	GAG		0.408	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		40	41	0	0	0	1	0	40	41				
BSND	7809	broad.mit.edu	37	1	55474243	55474243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55474243G>A	ENST00000371265.4	+	4	1159	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	302					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CTGCCAGATGGAGCCGGGGAC	0.577																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(904-906)gGa>gAa		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							94.0	90.0	92.0					1																	55474243		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55474243G>A	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.905G>A	1.37:g.55474243G>A	ENSP00000360312:p.Gly302Glu						p.G302E	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			4	1159	+			302					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.905G>A	CCDS602.1	.	.	.	.	.	.	.	.	.	.	g	10.37	1.331540	0.24167	.	.	ENSG00000162399	ENST00000371265	D	0.88277	-2.36	4.71	3.77	0.43336	.	0.901606	0.09532	N	0.789363	T	0.82231	0.4992	N	0.22421	0.69	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.67677	-0.5609	10	0.08837	T	0.75	-5.6979	11.5094	0.50484	0.0:0.0:0.677:0.323	.	302	Q8WZ55	BSND_HUMAN	E	302	ENSP00000360312:G302E	ENSP00000360312:G302E	G	+	2	0	BSND	55246831	0.861000	0.29849	0.142000	0.22268	0.156000	0.22039	1.211000	0.32382	1.287000	0.44583	0.543000	0.68304	GGA		0.577	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		43	45	0	0	0	1	0	43	45				
SYT11	23208	broad.mit.edu	37	1	155851257	155851257	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155851257C>T	ENST00000368324.4	+	4	1507	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	SYT11_ENST00000539162.1_Silent_p.P111P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	418					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCGAGAGCCCCCGCAAGCCTG	0.607																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1252-1254)ccC>ccT		synaptotagmin XI							48.0	56.0	54.0					1																	155851257		2202	4300	6502	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851257C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1254C>T	1.37:g.155851257C>T						SYT11_ENST00000539162.1_Silent_p.P111P	p.P418P	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1507	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		418					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.1254C>T	CCDS1122.1																																																																																				0.607	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		28	57	0	0	0	1	0	28	57				
GPRIN1	114787	broad.mit.edu	37	5	176026126	176026126	+	Missense_Mutation	SNP	G	G	A	rs142779818|rs550332435|rs371149640|rs386695335	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176026126G>A	ENST00000303991.4	-	2	887	c.710C>T	c.(709-711)tCt>tTt	p.S237F		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	237				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTTCTCAAAGACCCAGGATC	0.488																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(709-711)tCt>tTt		G protein regulated inducer of neurite outgrowth 1							91.0	93.0	93.0					5																	176026126		2141	4205	6346	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176026126G>A	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.710C>T	5.37:g.176026126G>A	ENSP00000305839:p.Ser237Phe						p.S237F	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	887	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	237	Missing (in Ref. 4; CAD38868).				C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.710C>T	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134149	0.37630	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.10005	2.92	4.31	3.43	0.39272	.	.	.	.	.	T	0.15522	0.0374	M	0.68593	2.085	0.09310	N	1	B	0.33807	0.426	B	0.35278	0.199	T	0.07790	-1.0754	9	0.56958	D	0.05	-0.4072	11.9121	0.52745	0.0:0.1777:0.8223:0.0	.	237	Q7Z2K8	GRIN1_HUMAN	F	237	ENSP00000305839:S237F	ENSP00000305839:S237F	S	-	2	0	GPRIN1	175958732	0.000000	0.05858	0.014000	0.15608	0.487000	0.33371	0.131000	0.15870	0.766000	0.33244	0.313000	0.20887	TCT		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		62	17	0	0	0	1	0	62	17				
RBM42	79171	broad.mit.edu	37	19	36125268	36125268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36125268G>A	ENST00000262633.4	+	8	1233	c.1128G>A	c.(1126-1128)tgG>tgA	p.W376*	RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Nonsense_Mutation_p.W322*|RBM42_ENST00000589559.1_Nonsense_Mutation_p.W347*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.W354*|RBM42_ENST00000360475.4_Nonsense_Mutation_p.W347*|RBM42_ENST00000588161.1_Nonsense_Mutation_p.W346*	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	376	Necessary for interaction with HNRNPK. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTGGAGTGGGATGCAGGTA	0.617																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1126-1128)tgG>tgA		RNA binding motif protein 42							35.0	33.0	34.0					19																	36125268		2203	4300	6503	SO:0001587	stop_gained	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36125268G>A	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.1128G>A	19.37:g.36125268G>A	ENSP00000262633:p.Trp376*					RBM42_ENST00000592202.1_Nonsense_Mutation_p.W322*|RBM42_ENST00000588161.1_Nonsense_Mutation_p.W346*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.W354*|RBM42_ENST00000360475.4_Nonsense_Mutation_p.W347*|RBM42_ENST00000589559.1_Nonsense_Mutation_p.W347*|RBM42_ENST00000586618.1_Intron	p.W376*	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1233	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		376			Necessary for interaction with HNRNPK (By similarity).		O00320|Q8N5R7|Q9BU66	Nonsense_Mutation	SNP	ENST00000262633.4	37	c.1128G>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	G	37	6.624500	0.97714	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2715	18.1573	0.89696	0.0:0.0:1.0:0.0	.	.	.	.	X	376;347	.	ENSP00000262633:W376X	W	+	3	0	RBM42	40817108	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.033000	0.93741	2.894000	0.99253	0.655000	0.94253	TGG		0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		15	18	0	0	0	1	0	15	18				
NLRP8	126205	broad.mit.edu	37	19	56459380	56459380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56459380G>A	ENST00000291971.3	+	1	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	38	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(112-114)Gaa>Aaa		NLR family, pyrin domain containing 8							130.0	101.0	111.0					19																	56459380		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459380G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.112G>A	19.37:g.56459380G>A	ENSP00000291971:p.Glu38Lys					NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K	p.E38K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	183	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	38			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.112G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489975	0.12702	.	.	ENSG00000179709	ENST00000291971	T	0.46451	0.87	2.05	-0.848	0.10727	Pyrin (1);DEATH-like (2);	.	.	.	.	T	0.19485	0.0468	N	0.08118	0	0.09310	N	1	B;B	0.25272	0.089;0.122	B;B	0.22386	0.019;0.039	T	0.17319	-1.0373	9	0.42905	T	0.14	.	5.5307	0.16983	0.2757:0.0:0.7243:0.0	.	38;38	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	38	ENSP00000291971:E38K	ENSP00000291971:E38K	E	+	1	0	NLRP8	61151192	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.275000	0.08525	-0.162000	0.10964	0.514000	0.50259	GAA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		21	33	0	0	0	1	0	21	33				
MYCT1	80177	broad.mit.edu	37	6	153019152	153019152	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:153019152C>T	ENST00000367245.5	+	1	123	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	MYCT1_ENST00000529453.1_Missense_Mutation_p.L39F	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	39						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTGTTTTTCTTCTCTTTCT	0.328																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(115-117)Ctt>Ttt		myc target 1							57.0	57.0	57.0					6																	153019152		2203	4296	6499	SO:0001583	missense	80177					nucleus		g.chr6:153019152C>T	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.115C>T	6.37:g.153019152C>T	ENSP00000356214:p.Leu39Phe					MYCT1_ENST00000529453.1_Missense_Mutation_p.L39F	p.L39F	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	1	123	+		Ovarian(120;0.0654)	39					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.115C>T	CCDS5239.1	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888931	0.17540	.	.	ENSG00000120279	ENST00000367245;ENST00000529453	T	0.37411	1.2	4.02	2.21	0.28008	.	0.000000	0.31542	N	0.007462	T	0.07593	0.0191	N	0.19112	0.55	0.20196	N	0.999924	B	0.18166	0.026	B	0.19391	0.025	T	0.32188	-0.9916	10	0.32370	T	0.25	-2.5174	6.239	0.20778	0.0:0.766:0.0:0.234	.	39	Q8N699	MYCT1_HUMAN	F	39	ENSP00000356214:L39F	ENSP00000356214:L39F	L	+	1	0	MYCT1	153060845	0.008000	0.16893	0.624000	0.29186	0.774000	0.43823	0.020000	0.13466	0.364000	0.24374	0.650000	0.86243	CTT		0.328	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		14	7	0	0	0	1	0	14	7				
LZTR1	8216	broad.mit.edu	37	22	21351208	21351208	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:21351208G>C	ENST00000215739.8	+	20	2718	c.2359G>C	c.(2359-2361)Gac>Cac	p.D787H	LZTR1_ENST00000389355.3_Missense_Mutation_p.D768H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	787					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGGCACTGGACATGAAGCG	0.607																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(2359-2361)Gac>Cac		leucine-zipper-like transcription regulator 1							78.0	68.0	71.0					22																	21351208		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21351208G>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2359G>C	22.37:g.21351208G>C	ENSP00000215739:p.Asp787His					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D768H	p.D787H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		20	2718	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	787					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2359G>C	CCDS33606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.772191|4.772191	0.90108|0.90108	.|.	.|.	ENSG00000099949|ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355|ENST00000415817	T;T|.	0.71222|.	-0.55;-0.55|.	5.36|5.36	5.36|5.36	0.76844|0.76844	BTB/POZ fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.972;0.998;0.998;0.998|.	T|T	0.73113|0.73113	-0.4085|-0.4085	10|5	0.72032|.	D|.	0.01|.	-42.3965|-42.3965	16.6254|16.6254	0.84969|0.84969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	768;499;787;746|.	B7Z3T9;B2R8T5;Q8N653;F5GXU8|.	.;.;LZTR1_HUMAN;.|.	H|A	746;787;768|86	ENSP00000215739:D787H;ENSP00000374006:D768H|.	ENSP00000215739:D787H|.	D|G	+|+	1|2	0|0	LZTR1|LZTR1	19681208|19681208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	9.568000|9.568000	0.98166|0.98166	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		25	31	0	0	0	1	0	25	31				
CHST9	83539	broad.mit.edu	37	18	24496869	24496869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:24496869C>T	ENST00000284224.8	-	6	963	c.686G>A	c.(685-687)aGa>aAa	p.R229K	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R229K|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	229					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CATCAGAATTCTTTTCCAATT	0.393																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(685-687)aGa>aAa		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							143.0	131.0	135.0					18																	24496869		1889	4111	6000	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496869C>T	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.686G>A	18.37:g.24496869C>T	ENSP00000284224:p.Arg229Lys					AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R229K|AQP4-AS1_ENST00000582605.1_RNA	p.R229K	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	963	-	all_lung(6;0.0145)|Ovarian(20;0.124)		229					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.686G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542339	0.85917	.	.	ENSG00000154080	ENST00000284224	T	0.75704	-0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84915	0.5578	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83045	-0.0155	10	0.51188	T	0.08	-27.3657	20.8794	0.99867	0.0:1.0:0.0:0.0	.	229	Q7L1S5	CHST9_HUMAN	K	229	ENSP00000284224:R229K	ENSP00000284224:R229K	R	-	2	0	CHST9	22750867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	AGA		0.393	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		42	60	0	0	0	1	0	42	60				
FAM171B	165215	broad.mit.edu	37	2	187627043	187627043	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:187627043C>T	ENST00000304698.5	+	8	2177	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	658						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGACCCTCCTGGAGCTGT	0.493																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1972-1974)ctC>ctT		family with sequence similarity 171, member B							92.0	102.0	98.0					2																	187627043		2203	4299	6502	SO:0001819	synonymous_variant	165215					integral to membrane	DNA binding	g.chr2:187627043C>T	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1974C>T	2.37:g.187627043C>T							p.L658L	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2177	+			658					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	c.1974C>T	CCDS33347.1																																																																																				0.493	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		39	79	0	0	0	1	0	39	79				
ARAF	369	broad.mit.edu	37	X	47429395	47429395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47429395C>T	ENST00000377045.4	+	14	1717	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCTCACTGCCTTACAGCCAC	0.592																																						ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1522-1524)cCt>cTt		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						69.0	41.0	50.0					X																	47429395		2203	4298	6501	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47429395C>T	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1523C>T	X.37:g.47429395C>T	ENSP00000366244:p.Pro508Leu					ARAF_ENST00000470206.1_3'UTR	p.P508L	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			14	1717	+			508			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.1523C>T	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870118	0.91587	.	.	ENSG00000078061	ENST00000377045	D	0.88201	-2.35	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95095	0.8411	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95922	0.8931	10	0.87932	D	0	.	15.0324	0.71717	0.0:1.0:0.0:0.0	.	508	P10398	ARAF_HUMAN	L	508	ENSP00000366244:P508L	ENSP00000366244:P508L	P	+	2	0	ARAF	47314339	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.498000	0.81546	2.224000	0.72417	0.513000	0.50165	CCT		0.592	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			8	15	0	0	0	1	0	8	15				
OR5AK2	390181	broad.mit.edu	37	11	56756814	56756814	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56756814C>T	ENST00000326855.2	+	1	468	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CAGTCTGCATCCGTTTGGTAG	0.448																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(424-426)atC>atT		olfactory receptor, family 5, subfamily AK, member 2							199.0	168.0	178.0					11																	56756814		2201	4296	6497	SO:0001819	synonymous_variant	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756814C>T	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.426C>T	11.37:g.56756814C>T							p.I142I	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	468	+			142					B2RNZ9	Silent	SNP	ENST00000326855.2	37	c.426C>T	CCDS31538.1																																																																																				0.448	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		47	74	0	0	0	1	0	47	74				
MTHFSD	64779	broad.mit.edu	37	16	86565692	86565692	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:86565692G>A	ENST00000360900.6	-	8	1102	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MTHFSD_ENST00000381214.5_Silent_p.V359V|MTHFSD_ENST00000543303.2_Silent_p.V358V|MTHFSD_ENST00000546093.1_Silent_p.V196V|MTHFSD_ENST00000322911.6_Silent_p.V358V	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	359	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						GCAAGCAGGAGACGGCCTGCT	0.711																																						ENST00000322911.6																			0				endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(1072-1074)gtC>gtT		methenyltetrahydrofolate synthetase domain containing							8.0	9.0	9.0					16																	86565692		1829	3991	5820	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86565692G>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.1077C>T	16.37:g.86565692G>A						MTHFSD_ENST00000360900.6_Silent_p.V359V|MTHFSD_ENST00000381214.5_Silent_p.V359V|MTHFSD_ENST00000546093.1_Silent_p.V196V|MTHFSD_ENST00000543303.2_Silent_p.V358V	p.V358V	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN			8	1124	-			359			RRM.		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.1074C>T	CCDS54047.1																																																																																				0.711	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		11	11	0	0	0	1	0	11	11				
PIK3R5	23533	broad.mit.edu	37	17	8785188	8785188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785188C>T	ENST00000447110.1	-	16	2340	c.2216G>A	c.(2215-2217)aGt>aAt	p.S739N	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACTTCGTCCACTGATGGCCCC	0.612																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2215-2217)aGt>aAt		phosphoinositide-3-kinase, regulatory subunit 5							77.0	71.0	73.0					17																	8785188		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785188C>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2216G>A	17.37:g.8785188C>T	ENSP00000392812:p.Ser739Asn					PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738N	p.S739N	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			16	2340	-			739			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2216G>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243721	0.39697	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.84070	-1.8	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.88480	0.3068	10	0.87932	D	0	-9.746	17.277	0.87119	0.0:1.0:0.0:0.0	.	739	Q8WYR1	PI3R5_HUMAN	N	739	ENSP00000392812:S739N	ENSP00000269300:S739N	S	-	2	0	PIK3R5	8725913	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.878000	0.75567	2.414000	0.81942	0.462000	0.41574	AGT		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		10	13	0	0	0	1	0	10	13				
TRERF1	55809	broad.mit.edu	37	6	42236688	42236688	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:42236688C>T	ENST00000372922.4	-	5	1203	c.641G>A	c.(640-642)gGt>gAt	p.G214D	TRERF1_ENST00000372917.4_Missense_Mutation_p.G214D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G214D|TRERF1_ENST00000541110.1_Missense_Mutation_p.G214D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G214D	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	214	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACAGCCCACCAGTGAAACC	0.632																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(640-642)gGt>gAt		transcriptional regulating factor 1							42.0	45.0	44.0					6																	42236688		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236688C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.641G>A	6.37:g.42236688C>T	ENSP00000362013:p.Gly214Asp					TRERF1_ENST00000372917.4_Missense_Mutation_p.G214D|TRERF1_ENST00000372922.4_Missense_Mutation_p.G214D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G214D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G214D	p.G214D			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1209	-	Colorectal(47;0.196)		214			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.641G>A	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767991	0.49680	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.77;2.59;2.79;2.59;2.59	5.39	4.33	0.51752	.	0.394979	0.24209	N	0.040554	T	0.11580	0.0282	L	0.27053	0.805	0.09310	N	1	D;D;D;B;B	0.63880	0.993;0.988;0.988;0.161;0.161	D;P;P;B;B	0.64144	0.922;0.837;0.837;0.073;0.073	T	0.04551	-1.0943	10	0.51188	T	0.08	-7.9149	11.5201	0.50546	0.0:0.8448:0.0:0.1552	.	214;214;214;53;53	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	D	214	ENSP00000439689:G214D;ENSP00000362008:G214D;ENSP00000362013:G214D;ENSP00000339438:G214D;ENSP00000346285:G214D	ENSP00000339438:G214D	G	-	2	0	TRERF1	42344666	0.074000	0.21230	0.720000	0.30636	0.995000	0.86356	1.792000	0.38754	2.537000	0.85549	0.462000	0.41574	GGT		0.632	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		4	49	0	0	0	1	0	4	49				
KRT82	3888	broad.mit.edu	37	12	52797673	52797673	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52797673C>T	ENST00000257974.2	-	2	509	c.432G>A	c.(430-432)aaG>aaA	p.K144K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	144	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCAGCTTGTTCTTCTGCTCCA	0.542																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(430-432)aaG>aaA		keratin 82							38.0	35.0	36.0					12																	52797673		2203	4300	6503	SO:0001819	synonymous_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52797673C>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.432G>A	12.37:g.52797673C>T							p.K144K	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	2	509	-			144			Coil 1A.|Rod.			Silent	SNP	ENST00000257974.2	37	c.432G>A	CCDS8826.1																																																																																				0.542	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		19	19	0	0	0	1	0	19	19				
KBTBD6	89890	broad.mit.edu	37	13	41705881	41705881	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:41705881G>A	ENST00000379485.1	-	1	1001	c.767C>T	c.(766-768)cCc>cTc	p.P256L	KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	256										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TGCAGCACTGGGACCCCGCTC	0.572																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(766-768)cCc>cTc		kelch repeat and BTB (POZ) domain containing 6							60.0	61.0	60.0					13																	41705881		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705881G>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.767C>T	13.37:g.41705881G>A	ENSP00000368799:p.Pro256Leu					KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190L	p.P256L	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1001	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	256					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.767C>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	14.46	2.543111	0.45280	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.68624	-0.34;-0.34	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.356526	0.26883	N	0.022001	T	0.69522	0.3120	L	0.47016	1.485	0.40541	D	0.981026	D;B	0.57571	0.98;0.203	P;B	0.55615	0.78;0.123	T	0.70142	-0.4953	10	0.37606	T	0.19	.	13.2826	0.60224	0.0:0.0:1.0:0.0	.	190;256	F5GZN7;Q86V97	.;KBTB6_HUMAN	L	256;190	ENSP00000368799:P256L;ENSP00000444326:P190L	ENSP00000368799:P256L	P	-	2	0	KBTBD6	40603881	0.869000	0.29996	0.580000	0.28601	0.992000	0.81027	3.377000	0.52425	2.065000	0.61736	0.462000	0.41574	CCC		0.572	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		27	56	0	0	0	1	0	27	56				
GBP5	115362	broad.mit.edu	37	1	89734500	89734500	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89734500C>T	ENST00000370459.3	-	3	357	c.230G>A	c.(229-231)gGa>gAa	p.G77E	GBP5_ENST00000343435.5_Missense_Mutation_p.G77E|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	77	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATCCAAATTCCCTTGGTGTG	0.488																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(229-231)gGa>gAa		guanylate binding protein 5							109.0	97.0	101.0					1																	89734500		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89734500C>T	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.230G>A	1.37:g.89734500C>T	ENSP00000359488:p.Gly77Glu					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E	p.G77E	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	4	766	-			77					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.230G>A	CCDS722.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641117	0.87859	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	D;D;D	0.88431	-2.38;-2.38;-2.38	4.82	4.82	0.62117	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	H	0.96398	3.815	0.38378	D	0.945046	D	0.89917	1.0	D	0.97110	1.0	D	0.97101	0.9797	10	0.87932	D	0	-9.6155	15.8468	0.78899	0.0:1.0:0.0:0.0	.	77	Q96PP8	GBP5_HUMAN	E	77	ENSP00000340396:G77E;ENSP00000359488:G77E;ENSP00000403010:G77E	ENSP00000340396:G77E	G	-	2	0	GBP5	89507088	0.999000	0.42202	0.934000	0.37439	0.767000	0.43475	5.413000	0.66399	2.689000	0.91719	0.556000	0.70494	GGA		0.488	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		14	44	0	0	0	1	0	14	44				
KLHL4	56062	broad.mit.edu	37	X	86773015	86773015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:86773015G>A	ENST00000373119.4	+	1	264	c.119G>A	c.(118-120)gGa>gAa	p.G40E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G40E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	40						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G40V(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGCAGGAAGGATATGAGCAT	0.488																																						ENST00000373119.4																			2	Substitution - Missense(2)	p.G40V(2)	lung(2)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(118-120)gGa>gAa		kelch-like family member 4							89.0	78.0	82.0					X																	86773015		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773015G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.119G>A	X.37:g.86773015G>A	ENSP00000362211:p.Gly40Glu					KLHL4_ENST00000373114.4_Missense_Mutation_p.G40E	p.G40E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			1	264	+			40					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.119G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630731	0.46944	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74421	-0.84;-0.81	5.05	4.15	0.48705	.	1.414390	0.05060	N	0.479768	T	0.79393	0.4438	L	0.45137	1.4	0.58432	D	0.999991	B;D	0.54207	0.124;0.965	B;P	0.57548	0.082;0.823	T	0.67604	-0.5628	10	0.14252	T	0.57	.	13.6887	0.62533	0.0:0.1503:0.8497:0.0	.	40;40	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	40	ENSP00000362211:G40E;ENSP00000362206:G40E	ENSP00000362206:G40E	G	+	2	0	KLHL4	86659671	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.555000	0.73928	2.327000	0.79052	0.513000	0.50165	GGA		0.488	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			29	80	0	0	0	1	0	29	80				
SLC18A1	6570	broad.mit.edu	37	8	20004780	20004780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:20004780C>T	ENST00000276373.5	-	15	1719	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.E485K|SLC18A1_ENST00000437980.1_Intron	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	485					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	AGCTTCTCTTCCTTTGCCGGG	0.488																																						ENST00000440926.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1453-1455)Gaa>Aaa		solute carrier family 18 (vesicular monoamine transporter), member 1							67.0	62.0	64.0					8																	20004780		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004780C>T		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1453G>A	8.37:g.20004780C>T	ENSP00000276373:p.Glu485Lys					SLC18A1_ENST00000276373.5_Missense_Mutation_p.E485K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K|SLC18A1_ENST00000437980.1_Intron	p.E485K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1923	-			485					E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1453G>A	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952098	0.73787	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.02	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);	0.196490	0.42682	N	0.000662	D	0.82692	0.5092	M	0.86343	2.81	0.80722	D	1	B;B	0.16603	0.014;0.018	B;B	0.25759	0.046;0.063	T	0.81086	-0.1092	10	0.48119	T	0.1	-10.9673	12.4	0.55407	0.0:0.9176:0.0:0.0824	.	453;485	E9PDJ5;P54219	.;VMAT1_HUMAN	K	453;485;485;453	ENSP00000265808:E453K;ENSP00000276373:E485K;ENSP00000387549:E485K;ENSP00000429664:E453K	ENSP00000265808:E453K	E	-	1	0	SLC18A1	20049060	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.687000	0.61708	1.345000	0.45676	0.563000	0.77884	GAA		0.488	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			15	25	0	0	0	1	0	15	25				
FYCO1	79443	broad.mit.edu	37	3	46008174	46008174	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:46008174G>A	ENST00000296137.2	-	8	2857	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	FYCO1_ENST00000535325.1_Silent_p.S884S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	884					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGCTTCCTCGGAGCTGCATT	0.657																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(2650-2652)tcC>tcT		FYVE and coiled-coil domain containing 1							32.0	29.0	30.0					3																	46008174		2203	4299	6502	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008174G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2652C>T	3.37:g.46008174G>A						FYCO1_ENST00000535325.1_Silent_p.S884S	p.S884S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2857	-			884					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.2652C>T	CCDS2734.1																																																																																				0.657	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		13	23	0	0	0	1	0	13	23				
TFDP1	7027	broad.mit.edu	37	13	114292093	114292093	+	Intron	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:114292093C>G	ENST00000375370.5	+	11	1218				TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000544902.1_Missense_Mutation_p.L294V	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TGTGTTGTTTCTGTTTCATGA	0.488										TSP Lung(29;0.18)																												ENST00000544902.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(880-882)Ctg>Gtg		transcription factor Dp-1							73.0	70.0	71.0					13																	114292093		2203	4300	6503	SO:0001627	intron_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114292093C>G	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.1007-40C>G	13.37:g.114292093C>G		TSP Lung(29;0.18)				TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000375370.5_Intron	p.L294V			Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1262	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	358			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.880C>G	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	c	9.234	1.036648	0.19669	.	.	ENSG00000198176	ENST00000544902	T	0.50277	0.75	3.3	-3.07	0.05363	.	.	.	.	.	T	0.22437	0.0541	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.19946	0.027	T	0.21655	-1.0239	8	0.19147	T	0.46	.	1.1105	0.01703	0.1757:0.3731:0.1333:0.3179	.	294	F5H452	.	V	294	ENSP00000438450:L294V	ENSP00000438450:L294V	L	+	1	2	TFDP1	113340094	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.109000	0.15417	-0.494000	0.06669	-0.258000	0.10820	CTG		0.488	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		14	23	0	0	0	1	0	14	23				
CCDC85A	114800	broad.mit.edu	37	2	56599550	56599550	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599550C>T	ENST00000407595.2	+	4	1891	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGTCCAGAGCCCGGCGGGTCT	0.517																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1387-1389)gcC>gcT		coiled-coil domain containing 85A							29.0	34.0	32.0					2																	56599550		1916	4118	6034	SO:0001819	synonymous_variant	114800							g.chr2:56599550C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1389C>T	2.37:g.56599550C>T						RP11-482H16.1_ENST00000607540.1_RNA	p.A463A	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1891	+			463						Silent	SNP	ENST00000407595.2	37	c.1389C>T	CCDS46290.1																																																																																				0.517	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			6	6	0	0	0	1	0	6	6				
NUP188	23511	broad.mit.edu	37	9	131719260	131719260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131719260A>T	ENST00000372577.2	+	5	297	c.276A>T	c.(274-276)ttA>ttT	p.L92F	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Missense_Mutation_p.Y113F	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	92					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGTGCAGTTACTCCAGTGTT	0.428																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(274-276)ttA>ttT		nucleoporin 188kDa							168.0	162.0	164.0					9																	131719260		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131719260A>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.276A>T	9.37:g.131719260A>T	ENSP00000361658:p.Leu92Phe					RP11-101E3.5_ENST00000482796.1_Missense_Mutation_p.113_113insF|NUP188_ENST00000550219.1_3'UTR	p.L92F	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			5	297	+			92					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.276A>T	CCDS35156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.591739|4.591739	0.86953|0.86953	.|.	.|.	ENSG00000095319|ENSG00000251184	ENST00000356693;ENST00000372577|ENST00000482796	T|.	0.51071|.	0.72|.	5.78|5.78	-3.8|-3.8	0.04307|0.04307	.|.	0.066382|.	0.56097|.	D|.	0.000025|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.29908|0.29908	0.895|0.895	0.45867|0.45867	D|D	0.998724|0.998724	P;D|.	0.61080|.	0.864;0.989|.	P;P|.	0.58873|.	0.447;0.847|.	T|T	0.33111|0.33111	-0.9881|-0.9881	10|5	0.40728|.	T|.	0.16|.	-25.3547|-25.3547	8.2016|8.2016	0.31428|0.31428	0.3216:0.0:0.5501:0.1283|0.3216:0.0:0.5501:0.1283	.|.	92;92|.	Q5SRE5;F8W973|.	NU188_HUMAN;.|.	F|F	92|113	ENSP00000361658:L92F|.	ENSP00000349125:L92F|.	L|Y	+|+	3|2	2|0	NUP188|RP11-101E3.5	130759081|130759081	0.987000|0.987000	0.35691|0.35691	0.986000|0.986000	0.45419|0.45419	0.992000|0.992000	0.81027|0.81027	0.154000|0.154000	0.16343|0.16343	-0.419000|-0.419000	0.07439|0.07439	0.529000|0.529000	0.55759|0.55759	TTA|TAC		0.428	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			46	24	0	0	0	1	0	46	24				
LCE1F	353137	broad.mit.edu	37	1	152748972	152748972	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152748972C>T	ENST00000334371.2	+	1	125	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	42					keratinization (GO:0031424)			p.S42F(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ccTGTCTCTTCCTGCTGCAGC	0.677																																						ENST00000334371.2																			1	Substitution - Missense(1)	p.S42F(1)	lung(1)	kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(124-126)tCc>tTc		late cornified envelope 1F							54.0	56.0	55.0					1																	152748972		2203	4300	6503	SO:0001583	missense	353137				keratinization			g.chr1:152748972C>T		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.125C>T	1.37:g.152748972C>T	ENSP00000334187:p.Ser42Phe						p.S42F	NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	125	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42						Missense_Mutation	SNP	ENST00000334371.2	37	c.125C>T	CCDS1023.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710537	0.30322	.	.	ENSG00000240386	ENST00000334371	T	0.06142	3.34	4.56	4.56	0.56223	.	0.000000	0.33161	U	0.005209	T	0.13415	0.0325	M	0.68593	2.085	0.30847	N	0.735044	D	0.69078	0.997	D	0.78314	0.991	T	0.00198	-1.1929	10	0.87932	D	0	.	13.0238	0.58804	0.0:1.0:0.0:0.0	.	42	Q5T754	LCE1F_HUMAN	F	42	ENSP00000334187:S42F	ENSP00000334187:S42F	S	+	2	0	LCE1F	151015596	0.999000	0.42202	0.997000	0.53966	0.872000	0.50106	1.888000	0.39708	2.516000	0.84829	0.557000	0.71058	TCC		0.677	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354		22	52	0	0	0	1	0	22	52				
BCOR	54880	broad.mit.edu	37	X	39933389	39933389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39933389G>A	ENST00000378444.4	-	4	1438	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q404*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q404*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Q404*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	404					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCACTGGCTGGGCACCTTCG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(1210-1212)Cag>Tag		BCL6 corepressor							31.0	28.0	29.0					X																	39933389		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933389G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.1210C>T	X.37:g.39933389G>A	ENSP00000367705:p.Gln404*					BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Q404*	p.Q404*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1572	-			404					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.1210C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	37	6.264268	0.97426	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-2.9646	15.6497	0.77081	0.0:0.1336:0.8664:0.0	.	.	.	.	X	404	.	ENSP00000345923:Q404X	Q	-	1	0	BCOR	39818333	0.735000	0.28153	0.006000	0.13384	0.873000	0.50193	3.327000	0.52045	2.331000	0.79229	0.600000	0.82982	CAG		0.592	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		21	24	0	0	0	1	0	21	24				
FREM2	341640	broad.mit.edu	37	13	39266048	39266048	+	Missense_Mutation	SNP	C	C	T	rs200817424		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39266048C>T	ENST00000280481.7	+	1	4783	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1523					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGGACATTCCGTATCTCCAT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		22555	0.0		0.0	False		,,,				2504	0.001					ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(4567-4569)Cgt>Tgt		FRAS1 related extracellular matrix protein 2		C	CYS/ARG	0,4406		0,0,2203	141.0	127.0	132.0		4567	5.2	1.0	13		132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FREM2	NM_207361.4	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1523/3170	39266048	2,13004	2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39266048C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4567C>T	13.37:g.39266048C>T	ENSP00000280481:p.Arg1523Cys						p.R1523C	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	4783	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1523					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.4567C>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574029	0.45902	0.0	2.33E-4	ENSG00000150893	ENST00000280481	T	0.57752	0.38	6.07	5.2	0.72013	.	0.049405	0.85682	D	0.000000	T	0.50837	0.1639	M	0.79343	2.45	0.80722	D	1	P	0.46578	0.88	B	0.37943	0.261	T	0.58429	-0.7638	10	0.59425	D	0.04	.	9.9171	0.41442	0.263:0.6238:0.1131:0.0	.	1523	Q5SZK8	FREM2_HUMAN	C	1523	ENSP00000280481:R1523C	ENSP00000280481:R1523C	R	+	1	0	FREM2	38164048	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.181000	0.32017	1.521000	0.48983	0.650000	0.86243	CGT		0.423	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		52	69	0	0	0	1	0	52	69				
NFIC	4782	broad.mit.edu	37	19	3453854	3453854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3453854C>T	ENST00000443272.2	+	9	1414	c.1363C>T	c.(1363-1365)Ccc>Tcc	p.P455S	NFIC_ENST00000395111.3_Intron|NFIC_ENST00000590282.1_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000589123.1_Missense_Mutation_p.P446S|NFIC_ENST00000346156.5_Intron	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	455					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GCTGGCGCTCCCCCCTGCCAC	0.677																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1336-1338)Ccc>Tcc		nuclear factor I/C (CCAAT-binding transcription factor)							11.0	18.0	16.0					19																	3453854		1933	4070	6003	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3453854C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1363C>T	19.37:g.3453854C>T	ENSP00000396843:p.Pro455Ser					NFIC_ENST00000443272.2_Missense_Mutation_p.P455S|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000590282.1_Intron	p.P446S	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	9	1456	+		Hepatocellular(1079;0.137)	455					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1336C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404578	0.25378	.	.	ENSG00000141905	ENST00000443272;ENST00000343825	T	0.62941	-0.01	3.11	1.92	0.25849	.	0.306973	0.31246	N	0.007994	T	0.32734	0.0839	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08638	-1.0712	10	0.28530	T	0.3	.	3.1313	0.06424	0.0:0.4316:0.0:0.5684	.	455;446	P08651;P08651-2	NFIC_HUMAN;.	S	446;455	ENSP00000396843:P446S	ENSP00000342859:P455S	P	+	1	0	NFIC	3404854	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	1.394000	0.34509	1.296000	0.44742	0.462000	0.41574	CCC		0.677	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		3	2	0	0	0	1	0	3	2				
PCDHA13	56136	broad.mit.edu	37	5	140263101	140263101	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263101G>A	ENST00000289272.2	+	1	1248	c.1248G>A	c.(1246-1248)gaG>gaA	p.E416E	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.E416E|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCGCGAGAGCGTATCAG	0.642																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1246-1248)gaG>gaA									133.0	132.0	132.0					5																	140263101		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140263101G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1248G>A	5.37:g.140263101G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.E416E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.E416E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1248	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1248G>A	CCDS4240.1																																																																																				0.642	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		73	135	0	0	0	1	0	73	135				
PPP3CA	5530	broad.mit.edu	37	4	101984395	101984395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:101984395C>T	ENST00000394854.3	-	9	1758	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	PPP3CA_ENST00000394853.4_Missense_Mutation_p.E359K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E261K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E292K|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E127K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	359					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		ATACCTTTTTCCCCAACAAAT	0.383																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1075-1077)Gaa>Aaa		protein phosphatase 3, catalytic subunit, alpha isozyme							86.0	86.0	86.0					4																	101984395		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101984395C>T		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.1075G>A	4.37:g.101984395C>T	ENSP00000378323:p.Glu359Lys					PPP3CA_ENST00000507176.1_Missense_Mutation_p.E261K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E359K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E292K|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E127K	p.E359K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	9	1758	-			359					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1075G>A	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667530	0.96745	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.35	5.35	0.76521	.	0.113408	0.56097	D	0.000024	T	0.32194	0.0821	M	0.85462	2.755	0.80722	D	1	P;D;P;B;B	0.58970	0.827;0.984;0.626;0.202;0.084	P;P;P;B;B	0.60068	0.562;0.868;0.471;0.074;0.079	T	0.14035	-1.0487	10	0.87932	D	0	-8.1156	19.0665	0.93113	0.0:1.0:0.0:0.0	.	359;127;359;261;292	Q08209;A8W6Z8;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	K	127;359;359;261;292	ENSP00000422781:E127K;ENSP00000378323:E359K;ENSP00000378322:E359K;ENSP00000422990:E261K;ENSP00000429350:E292K	ENSP00000378322:E359K	E	-	1	0	PPP3CA	102203418	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.490000	0.81461	2.513000	0.84729	0.655000	0.94253	GAA		0.383	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		13	23	0	0	0	1	0	13	23				
CD97	976	broad.mit.edu	37	19	14513433	14513433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14513433C>T	ENST00000242786.5	+	12	1288	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	CD97_ENST00000357355.3_Missense_Mutation_p.S354F|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.S310F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	403					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCATCCTCTCCATCCAGAAC	0.572																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1207-1209)tCc>tTc		CD97 molecule							105.0	98.0	100.0					19																	14513433		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513433C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1208C>T	19.37:g.14513433C>T	ENSP00000242786:p.Ser403Phe					CD97_ENST00000358600.3_Missense_Mutation_p.S310F|CD97_ENST00000357355.3_Missense_Mutation_p.S354F	p.S403F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			12	1288	+			403					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1208C>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753867	0.49362	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.73363	-0.74;-0.66;-0.29	5.12	5.12	0.69794	.	.	.	.	.	D	0.86468	0.5940	M	0.82323	2.585	0.43069	D	0.994705	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.97110	1.0;1.0;0.887	D	0.88380	0.3001	9	0.66056	D	0.02	.	14.0515	0.64739	0.0:1.0:0.0:0.0	.	310;354;403	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	F	403;354;310;353	ENSP00000242786:S403F;ENSP00000349918:S354F;ENSP00000351413:S310F	ENSP00000242786:S403F	S	+	2	0	CD97	14374433	0.992000	0.36948	0.287000	0.24848	0.023000	0.10783	3.656000	0.54467	2.368000	0.80403	0.455000	0.32223	TCC		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		41	69	0	0	0	1	0	41	69				
NLRP5	126206	broad.mit.edu	37	19	56549454	56549454	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56549454C>T	ENST00000390649.3	+	10	2679	c.2679C>T	c.(2677-2679)tcC>tcT	p.S893S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	893					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTACGACCTCCCCCAGCCTGA	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2677-2679)tcC>tcT		NLR family, pyrin domain containing 5							104.0	105.0	105.0					19																	56549454		2048	4206	6254	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549454C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2679C>T	19.37:g.56549454C>T							p.S893S	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	10	2679	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	893					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2679C>T	CCDS12938.1																																																																																				0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		27	28	0	0	0	1	0	27	28				
GPAA1	8733	broad.mit.edu	37	8	145139721	145139721	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145139721C>T	ENST00000355091.4	+	8	1228	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	GPAA1_ENST00000361036.6_Silent_p.V309V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	369					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGCTTCGTCTCCATCGGCC	0.602																																						ENST00000355091.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19						c.(1105-1107)gtC>gtT		glycosylphosphatidylinositol anchor attachment 1							104.0	114.0	111.0					8																	145139721		2001	4182	6183	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145139721C>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1107C>T	8.37:g.145139721C>T						GPAA1_ENST00000361036.6_Silent_p.V309V	p.V369V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	1228	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		369					Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.1107C>T	CCDS43776.1																																																																																				0.602	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		48	81	0	0	0	1	0	48	81				
CHRM3	1131	broad.mit.edu	37	1	240071631	240071631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240071631G>A	ENST00000255380.4	+	5	1659	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	294					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGCAGTTACGAACTTCAACA	0.547																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(880-882)Gaa>Aaa		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						43.0	47.0	45.0					1																	240071631		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071631G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.880G>A	1.37:g.240071631G>A	ENSP00000255380:p.Glu294Lys						p.E294K	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1659	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	294					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.880G>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039383	0.19669	.	.	ENSG00000133019	ENST00000255380	T	0.59502	0.26	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.191041	0.43919	D	0.000518	T	0.41743	0.1172	N	0.25647	0.755	0.58432	D	0.999991	B	0.25272	0.122	B	0.25506	0.061	T	0.27536	-1.0071	10	0.07644	T	0.81	-16.686	13.4233	0.61011	0.0716:0.0:0.9284:0.0	.	294	P20309	ACM3_HUMAN	K	294	ENSP00000255380:E294K	ENSP00000255380:E294K	E	+	1	0	CHRM3	238138254	1.000000	0.71417	0.935000	0.37517	0.792000	0.44763	4.956000	0.63645	2.781000	0.95711	0.591000	0.81541	GAA		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		14	36	0	0	0	1	0	14	36				
SGSH	6448	broad.mit.edu	37	17	78197055	78197055	+	5'Flank	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78197055C>T	ENST00000326317.6	-	0	0				SLC26A11_ENST00000546047.2_Silent_p.F144F|SLC26A11_ENST00000411502.3_Silent_p.F144F|SLC26A11_ENST00000361193.3_Silent_p.F144F|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Silent_p.F144F|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCCAGGGTTCCTGCTGGACT	0.617																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(430-432)ttC>ttT		solute carrier family 26 (anion exchanger), member 11							99.0	76.0	84.0					17																	78197055		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78197055C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78197055C>T	Exception_encountered					SLC26A11_ENST00000546047.2_Silent_p.F144F|SLC26A11_ENST00000411502.3_Silent_p.F144F|SLC26A11_ENST00000572725.1_Silent_p.F144F	p.F144F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	712	+	all_neural(118;0.0538)		144					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.432C>T	CCDS11770.1																																																																																				0.617	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		17	23	0	0	0	1	0	17	23				
PRAMEF11	440560	broad.mit.edu	37	1	12884919	12884919	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12884919G>A	ENST00000535591.1	-	4	1387	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	398					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTTCATCAGCTCAGCCCTA	0.498																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1192-1194)Ctg>Ttg		PRAME family member 11							71.0	57.0	61.0					1																	12884919		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884919G>A	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1192C>T	1.37:g.12884919G>A							p.L398L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1387	-			398						Silent	SNP	ENST00000535591.1	37	c.1192C>T	CCDS53268.1																																																																																				0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		59	127	0	0	0	1	0	59	127				
XIRP2	129446	broad.mit.edu	37	2	168115530	168115530	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115530G>A	ENST00000409728.1	+	11	2662	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G825E|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.G825E|XIRP2_ENST00000420519.1_Missense_Mutation_p.G858E|XIRP2_ENST00000409605.1_Missense_Mutation_p.G603E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACATTAAAGGAAGCCATTCA	0.378																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2572-2574)gGa>gAa		xin actin-binding repeat containing 2							28.0	27.0	27.0					2																	168115530		1822	4083	5905	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115530G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2573G>A	2.37:g.168115530G>A	ENSP00000386619:p.Gly858Glu					XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G603E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G858E|XIRP2_ENST00000409756.2_Missense_Mutation_p.G825E|XIRP2_ENST00000409043.1_Missense_Mutation_p.G825E|XIRP2_ENST00000409195.1_3'UTR	p.G858E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2662	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2573G>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.760513	0.00657	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.75704	-0.95;-0.96;-0.95;-0.96;-0.95	5.67	1.37	0.22104	.	.	.	.	.	T	0.53883	0.1824	.	.	.	0.09310	N	0.999999	B;B	0.17268	0.011;0.021	B;B	0.13407	0.009;0.009	T	0.33752	-0.9856	8	0.18276	T	0.48	.	6.1561	0.20338	0.5809:0.0:0.4191:0.0	.	825;858	A4UGR9-4;A4UGR9-6	.;.	E	825;858;825;858;603	ENSP00000386454:G825E;ENSP00000386619:G858E;ENSP00000386724:G825E;ENSP00000415541:G858E;ENSP00000386981:G603E	ENSP00000386454:G825E	G	+	2	0	XIRP2	167823776	0.042000	0.20092	0.020000	0.16555	0.223000	0.24884	0.291000	0.18994	0.356000	0.24157	0.561000	0.74099	GGA		0.378	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		8	15	0	0	0	1	0	8	15				
COL4A2	1284	broad.mit.edu	37	13	111138077	111138077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111138077G>A	ENST00000360467.5	+	34	3407	c.3101G>A	c.(3100-3102)gGa>gAa	p.G1034E		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1034	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CACATCAAAGGAGTCAAGGGA	0.612																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3100-3102)gGa>gAa		collagen, type IV, alpha 2							49.0	56.0	54.0					13																	111138077		1894	4107	6001	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111138077G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3101G>A	13.37:g.111138077G>A	ENSP00000353654:p.Gly1034Glu						p.G1034E	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		34	3407	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1034			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3101G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092467	0.55968	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	5.11	5.11	0.69529	.	0.000000	0.53938	D	0.000056	D	0.99638	0.9867	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97558	1.0096	10	0.87932	D	0	.	15.4724	0.75449	0.0:0.0:1.0:0.0	.	1034	P08572	CO4A2_HUMAN	E	1034	ENSP00000353654:G1034E	ENSP00000257309:G1034E	G	+	2	0	COL4A2	109936078	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	3.988000	0.56951	2.365000	0.80145	0.563000	0.77884	GGA		0.612	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		29	53	0	0	0	1	0	29	53				
OR1G1	8390	broad.mit.edu	37	17	3030838	3030838	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:3030838C>T	ENST00000328890.2	-	1	37	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	3					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGATTTTTCCCCTCCATTTG	0.463																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(7-9)gGg>gAg		olfactory receptor, family 1, subfamily G, member 1							49.0	52.0	51.0					17																	3030838		2202	4300	6502	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030838C>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.8G>A	17.37:g.3030838C>T	ENSP00000331545:p.Gly3Glu						p.G3E	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	37	-			3					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.8G>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368339	0.11352	.	.	ENSG00000183024	ENST00000328890	T	0.02916	4.11	4.28	0.919	0.19392	.	.	.	.	.	T	0.01287	0.0042	N	0.02247	-0.625	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.47315	-0.9127	9	0.39692	T	0.17	.	4.2366	0.10628	0.0:0.5346:0.1729:0.2925	.	3	P47890	OR1G1_HUMAN	E	3	ENSP00000331545:G3E	ENSP00000331545:G3E	G	-	2	0	OR1G1	2977588	0.000000	0.05858	0.008000	0.14137	0.353000	0.29299	-0.661000	0.05311	0.412000	0.25729	0.530000	0.56133	GGG		0.463	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			35	12	0	0	0	1	0	35	12				
CSMD3	114788	broad.mit.edu	37	8	114290923	114290923	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:114290923A>G	ENST00000297405.5	-	3	656	c.412T>C	c.(412-414)Ttc>Ctc	p.F138L	CSMD3_ENST00000352409.3_Missense_Mutation_p.F138L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F138L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F98L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	138	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAGATGGAATCCTGTTAAC	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(412-414)Ttc>Ctc		CUB and Sushi multiple domains 3							102.0	93.0	96.0					8																	114290923		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290923A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.412T>C	8.37:g.114290923A>G	ENSP00000297405:p.Phe138Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.F98L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F138L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F138L	p.F138L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			3	656	-			138			CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.412T>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407823	0.62399	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.18	5.18	0.71444	CUB (5);	0.000000	0.64402	D	0.000004	T	0.26085	0.0636	L	0.33293	1	0.36820	D	0.886344	P;D;B;B	0.56035	0.954;0.974;0.09;0.112	D;D;B;B	0.67725	0.916;0.953;0.082;0.126	T	0.09662	-1.0664	10	0.11794	T	0.64	.	13.2705	0.60157	1.0:0.0:0.0:0.0	.	138;138;138;98	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	L	98;138;138;138	ENSP00000345799:F98L;ENSP00000297405:F138L;ENSP00000412263:F138L;ENSP00000343124:F138L	ENSP00000297405:F138L	F	-	1	0	CSMD3	114360099	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.668000	0.91158	2.071000	0.62044	0.443000	0.29094	TTC		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	39	0	0	0	1	0	18	39				
AIM1L	55057	broad.mit.edu	37	1	26664049	26664049	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26664049G>A	ENST00000308182.5	-	8	918	c.489C>T	c.(487-489)tcC>tcT	p.S163S	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Silent_p.S334S			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	163	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAACTCTCAGGGACCCCACAG	0.607																																						ENST00000527815.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(1000-1002)tcC>tcT		absent in melanoma 1-like							39.0	44.0	42.0					1																	26664049		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26664049G>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.489C>T	1.37:g.26664049G>A						AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Silent_p.S163S	p.S334S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	8	1051	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	163			Beta/gamma crystallin 'Greek key' 7.		B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.1002C>T		.	.	.	.	.	.	.	.	.	.	G	3.323	-0.138387	0.06669	.	.	ENSG00000176092	ENST00000429942	.	.	.	4.75	1.88	0.25563	.	.	.	.	.	T	0.46151	0.1378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	.	3.6197	0.08090	0.3576:0.0:0.476:0.1664	.	.	.	.	S	101	.	.	P	-	1	0	AIM1L	26536636	1.000000	0.71417	0.953000	0.39169	0.345000	0.29048	0.939000	0.28978	0.242000	0.21303	-0.258000	0.10820	CCT		0.607	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		25	23	0	0	0	1	0	25	23				
CALN1	83698	broad.mit.edu	37	7	71743683	71743683	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:71743683C>T	ENST00000329008.5	-	2	404	c.106G>A	c.(106-108)Gag>Aag	p.E36K	CALN1_ENST00000405452.2_Missense_Mutation_p.E36K|CALN1_ENST00000431984.1_Missense_Mutation_p.E36K|CALN1_ENST00000395276.2_Missense_Mutation_p.E36K|CALN1_ENST00000395275.2_Missense_Mutation_p.E78K|CALN1_ENST00000412588.1_Missense_Mutation_p.E78K	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	36	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCGAGCTCCTCCACGGAGATA	0.562																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(232-234)Gag>Aag		calneuron 1							70.0	56.0	61.0					7																	71743683		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743683C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.106G>A	7.37:g.71743683C>T	ENSP00000332498:p.Glu36Lys					CALN1_ENST00000329008.5_Missense_Mutation_p.E36K|CALN1_ENST00000412588.1_Missense_Mutation_p.E78K|CALN1_ENST00000431984.1_Missense_Mutation_p.E36K|CALN1_ENST00000405452.2_Missense_Mutation_p.E36K|CALN1_ENST00000395276.2_Missense_Mutation_p.E36K	p.E78K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			3	620	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	36			EF-hand 2.		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.232G>A	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	35	5.568290	0.96540	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.77877	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-1.13	5.94	5.94	0.96194	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	L	0.55834	1.745	0.58432	D	0.999999	P;P	0.35328	0.495;0.495	B;B	0.30716	0.119;0.119	T	0.76460	-0.2951	10	0.72032	D	0.01	-4.7378	19.3475	0.94370	0.0:1.0:0.0:0.0	.	36;36	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	K	36;78;36;36;78;36;36	ENSP00000332498:E36K;ENSP00000378690:E78K;ENSP00000378691:E36K;ENSP00000410704:E36K;ENSP00000391882:E78K;ENSP00000384354:E36K;ENSP00000411806:E36K	ENSP00000332498:E36K	E	-	1	0	CALN1	71381619	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.413000	0.80104	2.816000	0.96949	0.563000	0.77884	GAG		0.562	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		22	47	0	0	0	1	0	22	47				
ZNF783	100289678	broad.mit.edu	37	7	148975489	148975489	+	Splice_Site	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:148975489G>C	ENST00000434415.1	+	5	836		c.e5-1		ZNF783_ENST00000489518.1_Splice_Site	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			ACATTCTCCAGGCCTCCCTCC	0.602																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.e5-1		zinc finger family member 783							37.0	41.0	40.0					7																	148975489		2059	4204	6263	SO:0001630	splice_region_variant	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148975489G>C	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.674-1G>C	7.37:g.148975489G>C						ZNF783_ENST00000489518.1_Splice_Site		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		5	836	+	Melanoma(164;0.15)							C9J9J2	Splice_Site	SNP	ENST00000434415.1	37		CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286737	0.10513	.	.	ENSG00000204946	ENST00000434415	.	.	.	3.82	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4314	0.21798	0.1475:0.0:0.8525:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF783	148606422	0.319000	0.24607	0.010000	0.14722	0.032000	0.12392	2.781000	0.47750	1.066000	0.40716	0.655000	0.94253	.		0.602	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	Intron	11	25	0	0	0	1	0	11	25				
TSPO2	222642	broad.mit.edu	37	6	41011350	41011350	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:41011350G>A	ENST00000373161.1	+	3	473	c.228G>A	c.(226-228)ctG>ctA	p.L76L	TSPO2_ENST00000470917.1_Silent_p.L76L|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	76					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTGGCCCCTGGCCCTGCCTC	0.577																																						ENST00000373161.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(226-228)ctG>ctA		translocator protein 2							110.0	104.0	106.0					6																	41011350		2203	4300	6503	SO:0001819	synonymous_variant	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41011350G>A		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.228G>A	6.37:g.41011350G>A						TSPO2_ENST00000373158.2_Intron|TSPO2_ENST00000470917.1_Silent_p.L76L	p.L76L	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN			3	473	+			76					B2RPR2|B7ZMN8|Q3SX82	Silent	SNP	ENST00000373161.1	37	c.228G>A	CCDS34444.1																																																																																				0.577	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1	NM_001010873.2		6	70	0	0	0	1	0	6	70				
CLEC6A	93978	broad.mit.edu	37	12	8628756	8628756	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8628756T>C	ENST00000382073.3	+	5	591	c.405T>C	c.(403-405)tcT>tcC	p.S135S		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	135	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					agtcattttcttattttctgg	0.393																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(403-405)tcT>tcC		C-type lectin domain family 6, member A							76.0	76.0	76.0					12																	8628756		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8628756T>C	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.405T>C	12.37:g.8628756T>C							p.S135S	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			5	591	+	Lung SC(5;0.184)		135			C-type lectin.		A2RUK3	Silent	SNP	ENST00000382073.3	37	c.405T>C	CCDS31739.1																																																																																				0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		35	46	0	0	0	1	0	35	46				
ARID2	196528	broad.mit.edu	37	12	46245164	46245164	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:46245164C>T	ENST00000334344.6	+	15	3430	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P	ARID2_ENST00000422737.1_Silent_p.P937P|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Silent_p.P696P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1086	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGATTCCTCCCCCTAATAATG	0.537			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3256-3258)ccC>ccT		AT rich interactive domain 2 (ARID, RFX-like)							88.0	85.0	86.0					12																	46245164		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245164C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3258C>T	12.37:g.46245164C>T						ARID2_ENST00000422737.1_Silent_p.P937P|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.P696P	p.P1086P	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3430	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1086			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3258C>T	CCDS31783.1																																																																																				0.537	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		36	68	0	0	0	1	0	36	68				
SLC36A4	120103	broad.mit.edu	37	11	92901171	92901171	+	Missense_Mutation	SNP	G	G	A	rs376115076		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92901171G>A	ENST00000326402.4	-	7	837	c.707C>T	c.(706-708)tCa>tTa	p.S236L	SLC36A4_ENST00000529184.1_Missense_Mutation_p.S101L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	236					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAAGGAATGAAAGTACAAA	0.328																																						ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(706-708)tCa>tTa		solute carrier family 36 (proton/amino acid symporter), member 4		G	LEU/SER	0,4402		0,0,2201	109.0	108.0	108.0		707	5.7	1.0	11		108	1,8589	1.2+/-3.3	0,1,4294	no	missense	SLC36A4	NM_152313.2	145	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	236/505	92901171	1,12991	2201	4295	6496	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92901171G>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.707C>T	11.37:g.92901171G>A	ENSP00000317382:p.Ser236Leu					SLC36A4_ENST00000529184.1_Missense_Mutation_p.S101L	p.S236L	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			7	837	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	236					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.707C>T	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667237	0.88251	0.0	1.16E-4	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.06294	3.32;3.32;3.32	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.38188	0.1031	M	0.93763	3.455	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.50145	-0.8862	10	0.87932	D	0	-13.0789	19.8695	0.96845	0.0:0.0:1.0:0.0	.	236	Q6YBV0	S36A4_HUMAN	L	236;101;130	ENSP00000317382:S236L;ENSP00000436570:S101L;ENSP00000432061:S130L	ENSP00000317382:S236L	S	-	2	0	SLC36A4	92540819	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.104000	0.89551	2.684000	0.91462	0.650000	0.86243	TCA		0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			23	36	0	0	0	1	0	23	36				
VCAM1	7412	broad.mit.edu	37	1	101194832	101194832	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:101194832C>T	ENST00000294728.2	+	5	1199	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	VCAM1_ENST00000370119.4_Silent_p.S304S|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	366	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGACCAATTCCACGCTGACCC	0.517																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1096-1098)tcC>tcT		vascular cell adhesion molecule 1	Carvedilol(DB01136)						120.0	122.0	121.0					1																	101194832		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101194832C>T	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1098C>T	1.37:g.101194832C>T						VCAM1_ENST00000370119.4_Silent_p.S304S|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	p.S366S	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	5	1199	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	366			Ig-like C2-type 4.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1098C>T	CCDS773.1																																																																																				0.517	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		50	60	0	0	0	1	0	50	60				
RIMS2	9699	broad.mit.edu	37	8	104897788	104897788	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104897788G>A	ENST00000436393.2	+	2	536	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	RIMS2_ENST00000507740.1_Missense_Mutation_p.E129K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E321K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.E129K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	352	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATGAATACGAAAGGCAAAG	0.433										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(385-387)Gaa>Aaa		regulating synaptic membrane exocytosis 2							100.0	96.0	97.0					8																	104897788		2002	4155	6157	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897788G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.295G>A	8.37:g.104897788G>A	ENSP00000390665:p.Glu99Lys	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.E99K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.E321K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E129K	p.E129K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	621	+			352			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.385G>A		.	.	.	.	.	.	.	.	.	.	G	28.1	4.893718	0.91889	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.35789	1.29;1.29;2.14;2.15;2.22;2.15;2.52	5.32	5.32	0.75619	.	.	.	.	.	T	0.60274	0.2256	M	0.70275	2.135	0.80722	D	1	D;P;D;D;D	0.76494	0.996;0.95;0.999;0.984;0.999	P;B;D;P;D	0.66084	0.708;0.426;0.941;0.507;0.923	T	0.63761	-0.6564	9	0.72032	D	0.01	.	18.9862	0.92771	0.0:0.0:1.0:0.0	.	352;99;129;129;321	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	321;352;321;352;129;129;129;129;99	ENSP00000427018:E321K;ENSP00000384892:E321K;ENSP00000425205:E129K;ENSP00000262231:E129K;ENSP00000423559:E129K;ENSP00000386228:E129K;ENSP00000390665:E99K	ENSP00000262231:E129K	E	+	1	0	RIMS2	104966964	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.941000	0.92964	2.479000	0.83701	0.467000	0.42956	GAA		0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		10	30	0	0	0	1	0	10	30				
SP100	6672	broad.mit.edu	37	2	231380268	231380268	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:231380268G>A	ENST00000264052.5	+	25	2908	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	851					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gagttgtcaaggctgaaaaaa	0.363																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(2551-2553)aaG>aaA		SP100 nuclear antigen							13.0	13.0	13.0					2																	231380268		2203	4295	6498	SO:0001819	synonymous_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231380268G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2553G>A	2.37:g.231380268G>A						SP100_ENST00000340126.4_Intron	p.K851K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	25	2908	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	851					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	c.2553G>A	CCDS2477.1																																																																																				0.363	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		5	3	0	0	0	1	0	5	3				
DNMT3B	1789	broad.mit.edu	37	20	31372588	31372588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31372588G>A	ENST00000328111.2	+	4	550	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	DNMT3B_ENST00000353855.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E89K|DNMT3B_ENST00000443239.3_Missense_Mutation_p.E77K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000375623.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000456297.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	77	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCGACGGGGAAGATGGGGA	0.517																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(229-231)Gaa>Aaa		DNA (cytosine-5-)-methyltransferase 3 beta							83.0	70.0	74.0					20																	31372588		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31372588G>A		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.229G>A	20.37:g.31372588G>A	ENSP00000328547:p.Glu77Lys					DNMT3B_ENST00000443239.3_Missense_Mutation_p.E77K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E89K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000375623.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000456297.2_Intron	p.E77K	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			4	550	+			77			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.229G>A	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345751	0.61073	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;T;D	0.97888	-4.55;-4.58;-4.53;-4.4;-4.42;-0.31;-4.59	4.12	4.12	0.48240	.	0.865198	0.10163	N	0.708087	D	0.93449	0.7910	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.27679	0.011;0.185;0.009;0.167;0.102	B;B;B;B;B	0.27380	0.021;0.079;0.022;0.073;0.05	D	0.85843	0.1399	10	0.23891	T	0.37	-20.8033	12.1737	0.54173	0.0:0.0:1.0:0.0	.	77;89;77;77;77	E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;DNM3B_HUMAN	K	77;163;77;77;77;77;77;89	ENSP00000328547:E77K;ENSP00000313397:E77K;ENSP00000337764:E77K;ENSP00000403169:E77K;ENSP00000345105:E77K;ENSP00000364774:E77K;ENSP00000201963:E89K	ENSP00000201963:E89K	E	+	1	0	DNMT3B	30836249	0.973000	0.33851	0.031000	0.17742	0.652000	0.38707	2.335000	0.43929	2.575000	0.86900	0.655000	0.94253	GAA		0.517	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		24	40	0	0	0	1	0	24	40				
ANKRD30A	91074	broad.mit.edu	37	10	37438738	37438738	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37438738A>G	ENST00000602533.1	+	11	1537	c.1438A>G	c.(1438-1440)Aaa>Gaa	p.K480E	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K480E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K480E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	536					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTTCCAAATAAAGCCTTTGA	0.299																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1438-1440)Aaa>Gaa		ankyrin repeat domain 30A							102.0	94.0	96.0					10																	37438738		1809	4066	5875	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37438738A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1438A>G	10.37:g.37438738A>G	ENSP00000473551:p.Lys480Glu					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K480E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K480E	p.K480E			Q9BXX3	AN30A_HUMAN			11	1537	+			536					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1438A>G		.	.	.	.	.	.	.	.	.	.	.	4.575	0.106729	0.08780	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07114	3.22;3.22	1.28	0.121	0.14695	.	.	.	.	.	T	0.12689	0.0308	L	0.34521	1.04	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.21690	-1.0238	9	0.52906	T	0.07	.	2.9962	0.05998	0.7201:0.0:0.2799:0.0	.	536	Q9BXX3	AN30A_HUMAN	E	480	ENSP00000354432:K480E;ENSP00000363792:K480E	ENSP00000354432:K480E	K	+	1	0	ANKRD30A	37478744	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.171000	0.03115	0.016000	0.14998	0.336000	0.21669	AAA		0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		32	44	0	0	0	1	0	32	44				
CCL8	6355	broad.mit.edu	37	17	32647334	32647334	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:32647334G>A	ENST00000394620.1	+	2	589	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	41					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TGATCAATAGGAAAATTCCTA	0.448																																						ENST00000394620.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(121-123)agG>agA		chemokine (C-C motif) ligand 8							89.0	75.0	80.0					17																	32647334		2203	4300	6503	SO:0001819	synonymous_variant	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32647334G>A	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.123G>A	17.37:g.32647334G>A							p.R41R	NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN			2	589	+		Ovarian(249;0.0443)|Breast(31;0.151)	41					A0AV77|P78388	Silent	SNP	ENST00000394620.1	37	c.123G>A	CCDS11280.1																																																																																				0.448	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		18	30	0	0	0	1	0	18	30				
ACTRT1	139741	broad.mit.edu	37	X	127185186	127185186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:127185186G>A	ENST00000371124.3	-	1	1196	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	334						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CATCTATCAGGAGAAGCTGTG	0.532																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(1000-1002)Cct>Tct		actin-related protein T1							153.0	110.0	124.0					X																	127185186		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185186G>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.1000C>T	X.37:g.127185186G>A	ENSP00000360165:p.Pro334Ser						p.P334S	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1196	-			334					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.1000C>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	6.209	0.406634	0.11754	.	.	ENSG00000123165	ENST00000371124	D	0.94376	-3.41	3.48	1.65	0.23941	.	0.320592	0.26122	N	0.026219	D	0.91784	0.7401	M	0.68728	2.09	0.27234	N	0.959317	P	0.42908	0.793	P	0.45428	0.48	D	0.86036	0.1516	10	0.87932	D	0	.	7.2046	0.25899	0.2431:0.0:0.7569:0.0	.	334	Q8TDG2	ACTT1_HUMAN	S	334	ENSP00000360165:P334S	ENSP00000360165:P334S	P	-	1	0	ACTRT1	127012867	0.356000	0.24930	0.004000	0.12327	0.082000	0.17680	1.529000	0.35996	0.295000	0.22570	0.600000	0.82982	CCT		0.532	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		39	59	0	0	0	1	0	39	59				
CUBN	8029	broad.mit.edu	37	10	16882500	16882500	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16882500G>A	ENST00000377833.4	-	62	9926	c.9861C>T	c.(9859-9861)acC>acT	p.T3287T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3287	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTTGTGGGGTCCAAGTTG	0.448																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9859-9861)acC>acT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	115.0	115.0					10																	16882500		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882500G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9861C>T	10.37:g.16882500G>A							p.T3287T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	9926	-			3287			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9861C>T	CCDS7113.1																																																																																				0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	5	0	0	0	1	0	4	5				
DDX1	1653	broad.mit.edu	37	2	15737538	15737538	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15737538C>T	ENST00000381341.2	+	6	591	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	DDX1_ENST00000233084.3_Silent_p.L68L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	68	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTATGAAACTCTGAAAGACCA	0.284																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(202-204)Ctg>Ttg		DEAD (Asp-Glu-Ala-Asp) box helicase 1							65.0	65.0	65.0					2																	15737538		2203	4299	6502	SO:0001819	synonymous_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15737538C>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.202C>T	2.37:g.15737538C>T						DDX1_ENST00000233084.3_Silent_p.L68L	p.L68L			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	6	591	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	68			Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.		B4DME8|B4DPN6	Silent	SNP	ENST00000381341.2	37	c.202C>T	CCDS1686.1																																																																																				0.284	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		18	23	0	0	0	1	0	18	23				
POLR3E	55718	broad.mit.edu	37	16	22343422	22343422	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:22343422G>A	ENST00000299853.5	+	20	2153	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	POLR3E_ENST00000418581.2_Silent_p.R626R|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000359210.4_Intron	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	662					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAAATTACCGGGTACGCCGAA	0.403																																						ENST00000299853.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1984-1986)cgG>cgA		polymerase (RNA) III (DNA directed) polypeptide E (80kD)							100.0	99.0	100.0					16																	22343422		2197	4300	6497	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22343422G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1986G>A	16.37:g.22343422G>A						POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R626R	p.R662R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	20	2153	+			662					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.1986G>A	CCDS10605.1																																																																																				0.403	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		34	47	0	0	0	1	0	34	47				
GXYLT1	283464	broad.mit.edu	37	12	42481617	42481617	+	Missense_Mutation	SNP	G	G	A	rs75740340		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:42481617G>A	ENST00000398675.3	-	8	1526	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401C	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	432					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTGGCATAACGATCTCTTACA	0.328																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(1294-1296)Cgt>Tgt		glucoside xylosyltransferase 1							105.0	93.0	97.0					12																	42481617		1836	4080	5916	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42481617G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.1294C>T	12.37:g.42481617G>A	ENSP00000381666:p.Arg432Cys					GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401C	p.R432C	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			8	1526	-			432					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.1294C>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375725	0.11409	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	4.9	2.75	0.32379	.	0.707951	0.13008	N	0.421091	T	0.28764	0.0713	L	0.29908	0.895	0.09310	N	1	P;D	0.54397	0.912;0.966	P;P	0.46339	0.466;0.513	T	0.06110	-1.0845	9	0.38643	T	0.18	-7.8089	7.8107	0.29230	0.1594:0.0:0.6532:0.1874	.	401;432	Q4G148-2;Q4G148	.;GXLT1_HUMAN	C	432;401	.	ENSP00000280876:R401C	R	-	1	0	GXYLT1	40767884	0.003000	0.15002	0.006000	0.13384	0.029000	0.11900	0.908000	0.28545	1.214000	0.43395	-0.119000	0.15052	CGT		0.328	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		10	17	0	0	0	1	0	10	17				
SENP1	29843	broad.mit.edu	37	12	48458913	48458913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48458913G>A	ENST00000004980.5	-	12	1688	c.1210C>T	c.(1210-1212)Caa>Taa	p.Q404*	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549518.1_Nonsense_Mutation_p.Q404*			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	404					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)				TGTGTTTCTTGGACAACAGTA	0.348																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1210-1212)Caa>Taa		SUMO1/sentrin specific peptidase 1							124.0	115.0	118.0					12																	48458913		1834	4089	5923	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.chr12:48458913G>A	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.1210C>T	12.37:g.48458913G>A	ENSP00000004980:p.Gln404*					SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.Q404*	p.Q404*			Q9P0U3	SENP1_HUMAN			12	1688	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	404					A8K7P5|Q86XC8	Nonsense_Mutation	SNP	ENST00000004980.5	37	c.1210C>T	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453466	0.84209	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	.	.	.	5.45	5.45	0.79879	.	0.557037	0.20092	N	0.099428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4732	18.8779	0.92346	0.0:0.0:1.0:0.0	.	.	.	.	X	404	.	ENSP00000004980:Q404X	Q	-	1	0	SENP1	46745180	0.996000	0.38824	0.981000	0.43875	0.659000	0.38960	6.192000	0.72069	2.572000	0.86782	0.462000	0.41574	CAA		0.348	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		16	24	0	0	0	1	0	16	24				
ZNF233	353355	broad.mit.edu	37	19	44777859	44777859	+	Missense_Mutation	SNP	G	G	A	rs569951523		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777859G>A	ENST00000391958.2	+	5	1173	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTATATGCCCGGAGCTCCAAC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.001					ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1045-1047)cGg>cAg		zinc finger protein 233							102.0	97.0	99.0					19																	44777859		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777859G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1046G>A	19.37:g.44777859G>A	ENSP00000375820:p.Arg349Gln					ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q	p.R349Q	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1173	+		Prostate(69;0.0435)|all_neural(266;0.226)	349					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1046G>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610015	0.28712	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.15718	2.4;2.4	4.29	-0.708	0.11241	.	.	.	.	.	T	0.11024	0.0269	L	0.28400	0.85	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30119	-0.9989	9	0.62326	D	0.03	0.0227	5.1768	0.15139	0.6014:0.1424:0.2562:0.0	.	349	A6NK53	ZN233_HUMAN	Q	331;349;270	ENSP00000334957:R331Q;ENSP00000375820:R349Q	ENSP00000280305:R270Q	R	+	2	0	ZNF233	49469699	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.049000	0.14099	-0.106000	0.12110	-0.355000	0.07637	CGG		0.527	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		13	32	0	0	0	1	0	13	32				
MAGEE1	57692	broad.mit.edu	37	X	75650684	75650684	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75650684G>A	ENST00000361470.2	+	1	2639	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	787	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGACCTCCTGAATCGTGCTG	0.473																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2359-2361)ctG>ctA		melanoma antigen family E, 1							92.0	84.0	87.0					X																	75650684		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650684G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2361G>A	X.37:g.75650684G>A							p.L787L	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2639	+			787			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.2361G>A	CCDS14433.1																																																																																				0.473	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		65	69	0	0	0	1	0	65	69				
TPCN2	219931	broad.mit.edu	37	11	68830448	68830448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830448G>A	ENST00000294309.3	+	6	744	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E215K	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	215					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTCGCTGCCGGAAATGGCCAG	0.647																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(643-645)Gaa>Aaa		two pore segment channel 2							82.0	81.0	81.0					11																	68830448		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830448G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.643G>A	11.37:g.68830448G>A	ENSP00000294309:p.Glu215Lys					TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E215K	p.E215K	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	744	+			215					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.643G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.461410	0.63513	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.98234	-4.81;-4.81	4.59	3.67	0.42095	Ion transport (1);	0.345958	0.31897	N	0.006890	D	0.96383	0.8820	L	0.53561	1.675	0.45899	D	0.998745	P;P;P	0.44309	0.832;0.826;0.492	B;B;B	0.40506	0.328;0.331;0.276	D	0.94489	0.7700	10	0.32370	T	0.25	-1.3158	14.0849	0.64949	0.0:0.1654:0.8346:0.0	.	215;215;130	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	K	145;215;130;215	ENSP00000294309:E215K;ENSP00000445551:E215K	ENSP00000294309:E215K	E	+	1	0	TPCN2	68587024	1.000000	0.71417	0.463000	0.27130	0.676000	0.39594	3.830000	0.55768	0.915000	0.36847	-0.330000	0.08379	GAA		0.647	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		45	55	0	0	0	1	0	45	55				
GUCY2F	2986	broad.mit.edu	37	X	108718439	108718439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:108718439G>A	ENST00000218006.2	-	2	1018	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	243					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CACTCACTGCGAATTCTGTCT	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(727-729)Cgc>Tgc		guanylate cyclase 2F, retinal							65.0	61.0	63.0					X																	108718439		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108718439G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.727C>T	X.37:g.108718439G>A	ENSP00000218006:p.Arg243Cys		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.R243C	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	1018	-			243					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.727C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461455	0.43736	.	.	ENSG00000101890	ENST00000218006	T	0.80738	-1.41	4.16	2.39	0.29439	Extracellular ligand-binding receptor (1);	0.063078	0.64402	D	0.000010	D	0.85292	0.5663	M	0.69823	2.125	0.58432	D	0.999996	D	0.76494	0.999	D	0.64877	0.93	D	0.83509	0.0079	10	0.62326	D	0.03	.	7.5358	0.27710	0.223:0.0:0.777:0.0	.	243	P51841	GUC2F_HUMAN	C	243	ENSP00000218006:R243C	ENSP00000218006:R243C	R	-	1	0	GUCY2F	108605095	0.332000	0.24722	0.999000	0.59377	0.545000	0.35147	0.778000	0.26732	0.516000	0.28340	0.594000	0.82650	CGC		0.517	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		43	67	0	0	0	1	0	43	67				
BLM	641	broad.mit.edu	37	15	91308595	91308595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91308595C>T	ENST00000355112.3	+	9	2262	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	BLM_ENST00000560136.1_Intron|BLM_ENST00000560509.1_Missense_Mutation_p.P715L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	715	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTCATTTCTCCCTTGAGATCA	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2143-2145)cCc>cTc	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							113.0	101.0	105.0					15																	91308595		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91308595C>T	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2144C>T	15.37:g.91308595C>T	ENSP00000347232:p.Pro715Leu					BLM_ENST00000560136.1_Intron|BLM_ENST00000560509.1_Missense_Mutation_p.P715L	p.P715L	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		9	2262	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		715			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2144C>T	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118807	0.94385	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.55760	0.5	5.84	5.84	0.93424	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86661	0.5986	H	0.99927	4.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92718	0.6189	10	0.87932	D	0	-10.0135	17.649	0.88157	0.0:1.0:0.0:0.0	.	715;340;715	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	L	715;368	ENSP00000347232:P715L	ENSP00000347232:P715L	P	+	2	0	BLM	89109599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.760000	0.94817	0.655000	0.94253	CCC		0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			28	32	0	0	0	1	0	28	32				
PIGA	5277	broad.mit.edu	37	X	15342945	15342945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:15342945G>A	ENST00000333590.4	-	5	1114	c.1030C>T	c.(1030-1032)Ctt>Ttt	p.L344F	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.L29F|PIGA_ENST00000542278.1_Missense_Mutation_p.L110F	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	344			Missing (in MCAHS2). {ECO:0000269|PubMed:24259288}.		C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAAATAATAAGGTTTTCTGGA	0.388																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1030-1032)Ctt>Ttt		phosphatidylinositol glycan anchor biosynthesis, class A							64.0	62.0	62.0					X																	15342945		2203	4298	6501	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342945G>A	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1030C>T	X.37:g.15342945G>A	ENSP00000369820:p.Leu344Phe					PIGA_ENST00000428964.1_Missense_Mutation_p.L29F|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.L110F	p.L344F	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1114	-	Hepatocellular(33;0.183)		344					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.1030C>T	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609653	0.46527	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	T;T;T	0.79247	-1.25;-0.93;-1.25	5.99	5.99	0.97316	Glycosyl transferase, family 1 (1);	0.061252	0.64402	D	0.000002	T	0.71837	0.3387	L	0.43923	1.385	0.54753	D	0.999988	B;B;P	0.35628	0.091;0.313;0.513	B;B;B	0.39094	0.098;0.209;0.29	T	0.69161	-0.5218	10	0.29301	T	0.29	-15.138	11.7043	0.51590	0.0812:0.0:0.9188:0.0	.	110;175;344	B4E0V2;P37287-2;P37287	.;.;PIGA_HUMAN	F	110;344;29	ENSP00000442653:L110F;ENSP00000369820:L344F;ENSP00000416102:L29F	ENSP00000369820:L344F	L	-	1	0	PIGA	15252866	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	3.613000	0.54152	2.536000	0.85505	0.600000	0.82982	CTT		0.388	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		43	56	0	0	0	1	0	43	56				
ELP4	26610	broad.mit.edu	37	11	31531419	31531419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:31531419C>T	ENST00000350638.5	+	1	123	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	ELP4_ENST00000395934.2_Nonsense_Mutation_p.Q30*|IMMP1L_ENST00000278200.1_5'Flank|ELP4_ENST00000379163.5_Nonsense_Mutation_p.Q30*|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000526776.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	30					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)					CACCAGTTTCCAGAGGAGGGG	0.632																																						ENST00000395934.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(88-90)Cag>Tag		elongator acetyltransferase complex subunit 4							61.0	67.0	65.0					11																	31531419		2079	4227	6306	SO:0001587	stop_gained	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.chr11:31531419C>T	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.88C>T	11.37:g.31531419C>T	ENSP00000298937:p.Gln30*					ELP4_ENST00000379163.5_Nonsense_Mutation_p.Q30*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.Q30*	p.Q30*			Q96EB1	ELP4_HUMAN			1	95	+	Lung SC(675;0.225)		30					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Nonsense_Mutation	SNP	ENST00000350638.5	37	c.88C>T	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	C	36	5.772926	0.96922	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	.	.	.	5.62	5.62	0.85841	.	0.118609	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.691	16.9379	0.86208	0.0:1.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000298937:Q30X	Q	+	1	0	ELP4	31487995	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	4.026000	0.57232	2.812000	0.96745	0.555000	0.69702	CAG		0.632	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		33	59	0	0	0	1	0	33	59				
RHPN2	85415	broad.mit.edu	37	19	33535241	33535241	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33535241C>T	ENST00000254260.3	-	2	134	c.99G>A	c.(97-99)cgG>cgA	p.R33R	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	33					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCAATTTACTCCGGCCGGTTT	0.478																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(97-99)cgG>cgA		rhophilin, Rho GTPase binding protein 2							72.0	69.0	70.0					19																	33535241		2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33535241C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.99G>A	19.37:g.33535241C>T						RHPN2_ENST00000400226.4_5'UTR	p.R33R	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			2	134	-	Esophageal squamous(110;0.137)		33					B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.99G>A	CCDS12427.1																																																																																				0.478	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		34	44	0	0	0	1	0	34	44				
GPR50	9248	broad.mit.edu	37	X	150345222	150345222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345222C>T	ENST00000218316.3	+	1	98	c.29C>T	c.(28-30)cCc>cTc	p.P10L	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCACCCCCTATGGCTGT	0.547																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(28-30)cCc>cTc		G protein-coupled receptor 50							67.0	71.0	70.0					X																	150345222		1910	4107	6017	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345222C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.29C>T	X.37:g.150345222C>T	ENSP00000218316:p.Pro10Leu					GPR50-AS1_ENST00000454196.1_RNA	p.P10L	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	98	+	Acute lymphoblastic leukemia(192;6.56e-05)		10					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.29C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783867	0.16189	.	.	ENSG00000102195	ENST00000218316	T	0.73575	-0.76	4.18	2.36	0.29203	.	0.771472	0.11984	N	0.510510	T	0.52092	0.1713	N	0.08118	0	0.09310	N	0.999999	B	0.20368	0.044	B	0.20184	0.028	T	0.47249	-0.9132	10	0.87932	D	0	-0.7006	5.1257	0.14884	0.0:0.7259:0.0:0.2741	.	10	Q13585	MTR1L_HUMAN	L	10	ENSP00000218316:P10L	ENSP00000218316:P10L	P	+	2	0	GPR50	150095880	0.575000	0.26692	0.011000	0.14972	0.317000	0.28152	0.954000	0.29175	0.885000	0.36088	0.292000	0.19580	CCC		0.547	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		46	71	0	0	0	1	0	46	71				
DRD2	1813	broad.mit.edu	37	11	113283503	113283503	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:113283503G>A	ENST00000362072.3	-	7	1257	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	DRD2_ENST00000542968.1_Silent_p.L305L|DRD2_ENST00000544518.1_Silent_p.L304L|DRD2_ENST00000538967.1_Silent_p.L307L|DRD2_ENST00000346454.3_Silent_p.L276L|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Silent_p.L307L|DRD2_ENST00000535984.1_5'Flank	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	305	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGAGAGTCAGCTGGTGGTGG	0.657																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(913-915)Ctg>Ttg		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						75.0	68.0	70.0					11																	113283503		2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283503G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.913C>T	11.37:g.113283503G>A						DRD2_ENST00000355319.2_Silent_p.L307L|DRD2_ENST00000542968.1_Silent_p.L305L|DRD2_ENST00000346454.3_Silent_p.L276L|DRD2_ENST00000544518.1_Silent_p.L304L|DRD2_ENST00000538967.1_Silent_p.L307L	p.L305L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	7	1257	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	305			Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.913C>T	CCDS8361.1																																																																																				0.657	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		25	44	0	0	0	1	0	25	44				
GAB4	128954	broad.mit.edu	37	22	17472911	17472911	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17472911G>A	ENST00000400588.1	-	2	437	c.330C>T	c.(328-330)ttC>ttT	p.F110F	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTTCTTGTTGAAGTTCAGAG	0.483																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(328-330)ttC>ttT		GRB2-associated binding protein family, member 4							232.0	244.0	240.0					22																	17472911		2197	4300	6497	SO:0001819	synonymous_variant	128954							g.chr22:17472911G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.330C>T	22.37:g.17472911G>A						GAB4_ENST00000523144.1_5'UTR	p.F110F	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	437	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	110			PH.			Silent	SNP	ENST00000400588.1	37	c.330C>T	CCDS42976.1																																																																																				0.483	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		105	162	0	0	0	1	0	105	162				
CFB	629	broad.mit.edu	37	6	31917213	31917213	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31917213G>A	ENST00000425368.2	+	10	1800	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	CFB_ENST00000556679.1_Silent_p.G931G|CFB_ENST00000477310.1_Silent_p.G780G|CFB_ENST00000456570.1_Silent_p.G931G|CFB_ENST00000497841.1_3'UTR	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	429	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATGTGTTTGGGGTCGGGCCTT	0.478																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2791-2793)ggG>ggA		complement factor B							82.0	84.0	83.0					6																	31917213		1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917213G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1287G>A	6.37:g.31917213G>A						CFB_ENST00000477310.1_Silent_p.G780G|CFB_ENST00000556679.1_Silent_p.G931G|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.G429G	p.G931G			P00751	CFAB_HUMAN			22	2848	+			429					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.2793G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	1.910	-0.450992	0.04572	.	.	ENSG00000243649	ENST00000483004	D	0.84944	-1.92	5.71	-3.82	0.04281	.	0.000000	0.53938	D	0.000050	T	0.78566	0.4303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76759	-0.2841	7	0.72032	D	0.01	-28.4679	6.0171	0.19608	0.4124:0.378:0.2095:0.0	.	.	.	.	E	42	ENSP00000419887:G42E	ENSP00000419887:G42E	G	+	2	0	CFB	32025192	0.941000	0.31946	0.821000	0.32701	0.105000	0.19272	-0.164000	0.09983	-0.378000	0.07918	-0.819000	0.03115	GGG		0.478	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		23	17	0	0	0	1	0	23	17				
KIAA0430	9665	broad.mit.edu	37	16	15690647	15690647	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15690647A>C	ENST00000396368.3	-	27	5338	c.5132T>G	c.(5131-5133)cTc>cGc	p.L1711R	KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1399R|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1711R|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1546R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1711					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTCCTTGCTGAGCAGTGACTC	0.537																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(5131-5133)cTc>cGc		KIAA0430							94.0	93.0	94.0					16																	15690647		1963	4151	6114	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15690647A>C	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.5132T>G	16.37:g.15690647A>C	ENSP00000379654:p.Leu1711Arg					KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1711R|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1546R|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1399R	p.L1711R	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			27	5338	-			1710					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.5132T>G	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194423	0.38806	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	0.353	0.16058	.	0.549745	0.18913	N	0.127694	T	0.20820	0.0501	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27264	0.173;0.173;0.173;0.108	B;B;B;B	0.34722	0.174;0.188;0.188;0.084	T	0.20207	-1.0282	9	0.62326	D	0.03	.	5.015	0.14331	0.3994:0.0:0.4526:0.148	.	1710;1708;1707;1710	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	R	1711;1546;1651;1399;1708;1711;1577	.	ENSP00000315718:L1651R	L	-	2	0	KIAA0430	15598148	0.017000	0.18338	0.067000	0.19924	0.043000	0.13939	0.229000	0.17833	0.040000	0.15660	0.533000	0.62120	CTC		0.537	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		21	38	0	0	0	1	0	21	38				
KCNB2	9312	broad.mit.edu	37	8	73849557	73849557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:73849557G>A	ENST00000523207.1	+	3	2555	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	656					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTCTATCCAGAGAGAAAGGA	0.577																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1966-1968)aGa>aAa		potassium voltage-gated channel, Shab-related subfamily, member 2							47.0	50.0	49.0					8																	73849557		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849557G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1967G>A	8.37:g.73849557G>A	ENSP00000430846:p.Arg656Lys						p.R656K	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2555	+	Breast(64;0.137)		656					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1967G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.636366	0.00806	.	.	ENSG00000182674	ENST00000523207	T	0.20738	2.05	4.8	3.93	0.45458	.	1.283410	0.05698	N	0.593627	T	0.12390	0.0301	N	0.12961	0.28	0.24774	N	0.992855	B	0.15141	0.012	B	0.17098	0.017	T	0.29488	-1.0010	10	0.07175	T	0.84	.	7.8625	0.29517	0.2629:0.0:0.7371:0.0	.	656	Q92953	KCNB2_HUMAN	K	656	ENSP00000430846:R656K	ENSP00000430846:R656K	R	+	2	0	KCNB2	74012111	1.000000	0.71417	0.862000	0.33874	0.546000	0.35178	2.330000	0.43885	1.245000	0.43885	-0.216000	0.12614	AGA		0.577	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		27	48	0	0	0	1	0	27	48				
RIMS2	9699	broad.mit.edu	37	8	104955149	104955149	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:104955149T>G	ENST00000436393.2	+	12	2271	c.2030T>G	c.(2029-2031)tTg>tGg	p.L677W	RIMS2_ENST00000507740.1_Missense_Mutation_p.L691W|RIMS2_ENST00000406091.3_Missense_Mutation_p.L899W|RIMS2_ENST00000262231.10_Missense_Mutation_p.L738W			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	961	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACACGGAGGTTGCAAAGTAAG	0.373										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2071-2073)tTg>tGg		regulating synaptic membrane exocytosis 2							59.0	55.0	56.0					8																	104955149		1834	4090	5924	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955149T>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2030T>G	8.37:g.104955149T>G	ENSP00000390665:p.Leu677Trp	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.L677W|RIMS2_ENST00000406091.3_Missense_Mutation_p.L899W|RIMS2_ENST00000262231.10_Missense_Mutation_p.L738W	p.L691W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		11	2308	+			961			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2072T>G		.	.	.	.	.	.	.	.	.	.	T	20.8	4.042471	0.75732	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.27890	1.64;2.1;1.91;1.82;1.78;2.08	5.17	5.17	0.71159	.	.	.	.	.	T	0.56156	0.1966	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.991;0.996;0.976;0.992;0.976;0.996	T	0.59894	-0.7368	9	0.56958	D	0.05	.	15.3133	0.74053	0.0:0.0:0.0:1.0	.	961;961;677;738;691;899	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	W	899;914;899;961;738;691;691;677	ENSP00000427018:L899W;ENSP00000384892:L899W;ENSP00000262231:L738W;ENSP00000423559:L691W;ENSP00000386228:L691W;ENSP00000390665:L677W	ENSP00000262231:L738W	L	+	2	0	RIMS2	105024325	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	7.948000	0.87774	2.064000	0.61679	0.482000	0.46254	TTG		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		8	22	0	0	0	1	0	8	22				
EDC4	23644	broad.mit.edu	37	16	67911500	67911500	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911500G>A	ENST00000358933.5	+	6	969	c.730G>A	c.(730-732)Gag>Aag	p.E244K	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	244					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CATCCCTGAGGAGAGCGAAGA	0.597																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(730-732)Gag>Aag		enhancer of mRNA decapping 4							78.0	82.0	81.0					16																	67911500		2198	4300	6498	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67911500G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.730G>A	16.37:g.67911500G>A	ENSP00000351811:p.Glu244Lys					EDC4_ENST00000574770.1_3'UTR	p.E244K	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	969	+		Ovarian(137;0.0563)	244					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.730G>A	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258305	0.59321	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.56	5.56	0.83823	WD40 repeat-like-containing domain (1);	0.116780	0.56097	D	0.000021	T	0.43809	0.1264	N	0.24115	0.695	0.50313	D	0.999865	P;B	0.34462	0.454;0.435	B;B	0.27262	0.078;0.078	T	0.32534	-0.9903	9	0.26408	T	0.33	-22.9289	19.1287	0.93396	0.0:0.0:1.0:0.0	.	176;244	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	K	244;176	.	ENSP00000351811:E244K	E	+	1	0	EDC4	66469001	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	8.062000	0.89475	2.631000	0.89168	0.462000	0.41574	GAG		0.597	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		23	51	0	0	0	1	0	23	51				
CNGA3	1261	broad.mit.edu	37	2	99013661	99013661	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99013661C>T	ENST00000272602.2	+	7	2067	c.2028C>T	c.(2026-2028)ccC>ccT	p.P676P	CNGA3_ENST00000393504.1_Silent_p.P676P|CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000436404.2_Silent_p.P658P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	676					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGACAAGCCCCTGGCTGATG	0.557																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(2026-2028)ccC>ccT		cyclic nucleotide gated channel alpha 3							37.0	40.0	39.0					2																	99013661		2202	4300	6502	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013661C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2028C>T	2.37:g.99013661C>T						CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000436404.2_Silent_p.P658P|CNGA3_ENST00000272602.2_Silent_p.P676P	p.P676P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2445	+			676					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.2028C>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	29	0	0	0	1	0	17	29				
MTMR8	55613	broad.mit.edu	37	X	63565035	63565035	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63565035G>T	ENST00000374852.3	-	7	822	c.755C>A	c.(754-756)gCa>gAa	p.A252E	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.A252E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	252	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTTCCCAGCTGCTCGGTTGGC	0.448																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(754-756)gCa>gAa		myotubularin related protein 8							155.0	125.0	135.0					X																	63565035		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63565035G>T	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.755C>A	X.37:g.63565035G>T	ENSP00000363985:p.Ala252Glu					MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.A252E	p.A252E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			7	822	-			252			Myotubularin phosphatase.|Substrate binding (By similarity).		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.755C>A	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274875	0.80580	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.95980	-3.87;-3.87	3.23	3.23	0.37069	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.47093	U	0.000246	D	0.98532	0.9510	H	0.98525	4.255	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98821	1.0747	10	0.87932	D	0	.	12.8898	0.58066	0.0:0.0:1.0:0.0	.	252;252	B4DQL0;Q96EF0	.;MTMR8_HUMAN	E	252	ENSP00000394003:A252E;ENSP00000363985:A252E	ENSP00000363985:A252E	A	-	2	0	MTMR8	63481760	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.221000	0.72243	1.638000	0.50547	0.513000	0.50165	GCA		0.448	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		42	61	1	0	1.15183e-24	1	1.17684e-24	42	61				
ZNF208	7757	broad.mit.edu	37	19	22154137	22154137	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154137G>A	ENST00000397126.4	-	4	3847	c.3699C>T	c.(3697-3699)gcC>gcT	p.A1233A	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACGTACTAAAGGCTTTGCCAC	0.403																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3697-3699)gcC>gcT		zinc finger protein 208							48.0	52.0	50.0					19																	22154137		2120	4246	6366	SO:0001819	synonymous_variant	7757							g.chr19:22154137G>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3699C>T	19.37:g.22154137G>A						ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.A1233A	NM_007153.3	NP_009084.2					4	3847	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.3699C>T	CCDS54240.1																																																																																				0.403	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		15	31	0	0	0	1	0	15	31				
MXRA7	439921	broad.mit.edu	37	17	74679982	74679982	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74679982G>A	ENST00000355797.3	-	3	509				MXRA7_ENST00000589082.1_Silent_p.S21S|MXRA7_ENST00000375036.2_Silent_p.S176S|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000449428.2_Intron	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CTTGCTACAGGGAAGTGAGGT	0.498																																						ENST00000375036.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(526-528)tcC>tcT		matrix-remodelling associated 7							139.0	123.0	128.0					17																	74679982		2203	4300	6503	SO:0001627	intron_variant	439921					integral to membrane		g.chr17:74679982G>A	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.500+1171C>T	17.37:g.74679982G>A						MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Silent_p.S21S|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron	p.S176S	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN			4	585	-			0					Q0P5W3	Silent	SNP	ENST00000355797.3	37	c.528C>T	CCDS32745.1																																																																																				0.498	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		18	61	0	0	0	1	0	18	61				
PCDHA8	56140	broad.mit.edu	37	5	140223235	140223235	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140223235C>T	ENST00000531613.1	+	1	2329	c.2329C>T	c.(2329-2331)Cct>Tct	p.P777S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777S|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	777	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGCCTTCCTCCTGATCT	0.502																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(2329-2331)Cct>Tct									56.0	57.0	57.0					5																	140223235		2196	4263	6459	SO:0001583	missense	56140							g.chr5:140223235C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2329C>T	5.37:g.140223235C>T	ENSP00000434655:p.Pro777Ser					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.P777S	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2329	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.2329C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179127	0.21787	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.11930	2.73;2.73	3.06	3.06	0.35304	.	0.211711	0.23325	U	0.049414	T	0.13670	0.0331	L	0.41710	1.295	0.32096	N	0.591186	B;P	0.36027	0.021;0.533	B;B	0.39805	0.082;0.31	T	0.10200	-1.0640	10	0.33940	T	0.23	.	12.3432	0.55105	0.0:1.0:0.0:0.0	.	777;777	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	S	777	ENSP00000434655:P777S;ENSP00000367363:P777S	ENSP00000367363:P777S	P	+	1	0	PCDHA8	140203419	0.136000	0.22515	0.315000	0.25238	0.468000	0.32798	0.864000	0.27926	1.692000	0.51112	0.460000	0.39030	CCT		0.502	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		19	32	0	0	0	1	0	19	32				
SNAPC5	10302	broad.mit.edu	37	15	66787717	66787717	+	Missense_Mutation	SNP	C	C	T	rs370969546		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:66787717C>T	ENST00000316634.5	-	2	212	c.131G>A	c.(130-132)aGa>aAa	p.R44K	SNAPC5_ENST00000395589.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000563480.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000307979.7_Intron|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000566658.1_Intron			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	44					gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						CTCATCCCCTCTTCTAGAACT	0.433																																						ENST00000316634.5																			0				breast(1)|large_intestine(1)	2						c.(130-132)aGa>aAa		small nuclear RNA activating complex, polypeptide 5, 19kDa		C	LYS/ARG	0,4402		0,0,2201	170.0	144.0	153.0		131	1.0	0.0	15		153	1,8597	1.2+/-3.3	0,1,4298	no	missense	SNAPC5	NM_006049.2	26	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	44/99	66787717	1,12999	2201	4299	6500	SO:0001583	missense	10302				transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr15:66787717C>T	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.131G>A	15.37:g.66787717C>T	ENSP00000319597:p.Arg44Lys					SNAPC5_ENST00000566658.1_Intron|SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000563480.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.R44K	p.R44K			O75971	SNPC5_HUMAN			2	212	-			44					A8K7N6|Q96CF3	Missense_Mutation	SNP	ENST00000316634.5	37	c.131G>A	CCDS10217.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.284723	0.40394	0.0	1.16E-4	ENSG00000174446	ENST00000395589;ENST00000316634	.	.	.	5.22	1.05	0.20165	.	0.848839	0.10531	N	0.663841	T	0.15869	0.0382	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	8	0.08599	T	0.76	-0.0217	6.5738	0.22553	0.0:0.4254:0.0:0.5746	.	44	O75971	SNPC5_HUMAN	K	44	.	ENSP00000319597:R44K	R	-	2	0	SNAPC5	64574771	0.002000	0.14202	0.002000	0.10522	0.334000	0.28698	0.527000	0.22987	0.376000	0.24707	-0.140000	0.14226	AGA		0.433	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			36	54	0	0	0	1	0	36	54				
ROBO3	64221	broad.mit.edu	37	11	124742917	124742917	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124742917T>G	ENST00000397801.1	+	9	1660	c.1468T>G	c.(1468-1470)Tgg>Ggg	p.W490G	ROBO3_ENST00000538940.1_Missense_Mutation_p.W468G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	490	Ig-like C2-type 5.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGATGGGCAGTGGCTGCAGGG	0.597																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1468-1470)Tgg>Ggg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							78.0	84.0	82.0					11																	124742917		2058	4218	6276	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124742917T>G	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1468T>G	11.37:g.124742917T>G	ENSP00000380903:p.Trp490Gly					ROBO3_ENST00000538940.1_Missense_Mutation_p.W468G	p.W490G	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	9	1660	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	490			Ig-like C2-type 5.			Missense_Mutation	SNP	ENST00000397801.1	37	c.1468T>G	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	T	9.079	0.998953	0.19121	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.66099	-0.19;-0.19	4.39	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.733083	0.11294	N	0.578963	T	0.31857	0.0810	N	0.01874	-0.695	0.80722	D	1	B	0.14805	0.011	B	0.04013	0.001	T	0.18777	-1.0326	10	0.19147	T	0.46	.	8.1293	0.31018	0.0:0.0:0.3343:0.6657	.	490	Q96MS0	ROBO3_HUMAN	G	490;468	ENSP00000380903:W490G;ENSP00000441797:W468G	ENSP00000380903:W490G	W	+	1	0	ROBO3	124248127	0.815000	0.29118	0.998000	0.56505	0.923000	0.55619	1.205000	0.32308	1.844000	0.53588	0.379000	0.24179	TGG		0.597	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		25	48	0	0	0	1	0	25	48				
PPP2R3A	5523	broad.mit.edu	37	3	135720858	135720858	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:135720858C>A	ENST00000264977.3	+	2	1135	c.518C>A	c.(517-519)tCc>tAc	p.S173Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	173					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACGCCCCATCCTTTGGTTTA	0.413																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(517-519)tCc>tAc		protein phosphatase 2, regulatory subunit B'', alpha							72.0	78.0	76.0					3																	135720858		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135720858C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.518C>A	3.37:g.135720858C>A	ENSP00000264977:p.Ser173Tyr					PPP2R3A_ENST00000490467.1_Intron	p.S173Y	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			2	1135	+			173					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.518C>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834124	0.32421	.	.	ENSG00000073711	ENST00000264977	T	0.06608	3.28	5.55	4.65	0.58169	.	0.498586	0.22246	N	0.062606	T	0.09113	0.0225	L	0.36672	1.1	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.05289	-1.0894	10	0.87932	D	0	.	14.9245	0.70866	0.1432:0.8568:0.0:0.0	.	173	Q06190	P2R3A_HUMAN	Y	173	ENSP00000264977:S173Y	ENSP00000264977:S173Y	S	+	2	0	PPP2R3A	137203548	1.000000	0.71417	0.966000	0.40874	0.168000	0.22595	5.472000	0.66768	2.594000	0.87642	0.655000	0.94253	TCC		0.413	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		26	41	1	0	6.32553e-13	1	6.41384e-13	26	41				
SPANXN3	139067	broad.mit.edu	37	X	142605181	142605181	+	Silent	SNP	C	C	T	rs148202641		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:142605181C>T	ENST00000370503.2	-	1	122	c.39G>A	c.(37-39)acG>acA	p.T13T	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	13										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGCTCTTCGTCTTCTCCC	0.458													t|||	1	0.000264901	0.0	0.0	3775	,	,		12879	0.001		0.0	False		,,,				2504	0.0					ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(37-39)acG>acA		SPANX family, member N3		C		1,3834		0,1,1631,571	268.0	234.0	245.0		39	0.5	0.0	X	dbSNP_134	245	1,6727		0,1,2427,1872	no	coding-synonymous	SPANXN3	NM_001009609.2		0,2,4058,2443	TT,TC,CC,C		0.0149,0.0261,0.0189		13/142	142605181	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	139067							g.chrX:142605181C>T		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.39G>A	X.37:g.142605181C>T							p.T13T	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	122	-	Acute lymphoblastic leukemia(192;6.56e-05)		13					Q0ZNK4	Silent	SNP	ENST00000370503.2	37	c.39G>A	CCDS35418.1																																																																																				0.458	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		94	114	0	0	0	1	0	94	114				
APBA2	321	broad.mit.edu	37	15	29393814	29393814	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:29393814G>A	ENST00000558402.1	+	11	1950	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	APBA2_ENST00000558330.1_Missense_Mutation_p.D439N|APBA2_ENST00000561069.1_Missense_Mutation_p.D451N|APBA2_ENST00000411764.1_Missense_Mutation_p.D439N|APBA2_ENST00000558259.1_Missense_Mutation_p.D451N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	451	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AACCATGATGGACCACGCCTT	0.572																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1351-1353)Gac>Aac		amyloid beta (A4) precursor protein-binding, family A, member 2							97.0	68.0	78.0					15																	29393814		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29393814G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1351G>A	15.37:g.29393814G>A	ENSP00000453293:p.Asp451Asn					APBA2_ENST00000411764.1_Missense_Mutation_p.D439N|APBA2_ENST00000558330.1_Missense_Mutation_p.D439N|APBA2_ENST00000561069.1_Missense_Mutation_p.D451N|APBA2_ENST00000558259.1_Missense_Mutation_p.D451N	p.D451N			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	11	1950	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	451			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1351G>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121872	0.94429	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.55588	0.51	4.27	4.27	0.50696	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.054268	0.64402	D	0.000001	T	0.69700	0.3140	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.997	D;D;D;D	0.97110	0.986;0.992;1.0;0.979	T	0.73707	-0.3898	10	0.72032	D	0.01	.	16.2197	0.82251	0.0:0.0:1.0:0.0	.	439;143;439;451	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	N	439;451;143	ENSP00000409312:D439N	ENSP00000219865:D451N	D	+	1	0	APBA2	27181106	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.352000	0.97076	2.365000	0.80145	0.655000	0.94253	GAC		0.572	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		15	9	0	0	0	1	0	15	9				
TMPRSS9	360200	broad.mit.edu	37	19	2405440	2405440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:2405440G>A	ENST00000332578.3	+	6	637	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	213	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCGGGGGAGTTTCCGTG	0.627																																						ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(637-639)Gag>Aag		transmembrane protease, serine 9							81.0	80.0	81.0					19																	2405440		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2405440G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.637G>A	19.37:g.2405440G>A	ENSP00000330264:p.Glu213Lys						p.E213K	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	637	+			213			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.637G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005254	0.74932	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.61158	0.13	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000162	T	0.66587	0.2804	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69453	-0.5141	10	0.54805	T	0.06	.	15.9549	0.79880	0.0:0.0:1.0:0.0	.	213;247	Q7Z410;E7EMP4	TMPS9_HUMAN;.	K	247;213	ENSP00000330264:E213K	ENSP00000330264:E213K	E	+	1	0	TMPRSS9	2356440	1.000000	0.71417	0.924000	0.36721	0.122000	0.20287	9.617000	0.98361	2.188000	0.69820	0.484000	0.47621	GAG		0.627	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		37	22	0	0	0	1	0	37	22				
COL9A1	1297	broad.mit.edu	37	6	71009790	71009790	+	Silent	SNP	C	C	T	rs376793758		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:71009790C>T	ENST00000357250.6	-	4	413	c.255G>A	c.(253-255)gtG>gtA	p.V85V	COL9A1_ENST00000370496.3_Silent_p.V85V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	85	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACTTGTAAGCCACCTGCAATG	0.373																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(253-255)gtG>gtA		collagen, type IX, alpha 1		C		1,4405	2.1+/-5.4	0,1,2202	88.0	86.0	87.0		255	4.8	1.0	6		87	0,8600		0,0,4300	no	coding-synonymous	COL9A1	NM_001851.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		85/922	71009790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71009790C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.255G>A	6.37:g.71009790C>T						COL9A1_ENST00000370496.3_Silent_p.V85V	p.V85V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			4	413	-			85			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.255G>A	CCDS4971.1																																																																																				0.373	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	36	0	0	0	1	0	7	36				
PTPN23	25930	broad.mit.edu	37	3	47450663	47450663	+	Silent	SNP	C	C	T	rs141629698		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:47450663C>T	ENST00000265562.4	+	17	1730	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	PTPN23_ENST00000431726.1_Silent_p.A425A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	551					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGACAAGGCCGTGCTGCAAA	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19047	0.0		0.0	False		,,,				2504	0.0					ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1651-1653)gcC>gcT		protein tyrosine phosphatase, non-receptor type 23		C		0,4406		0,0,2203	64.0	63.0	63.0		1653	-8.4	0.0	3	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTPN23	NM_015466.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		551/1637	47450663	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450663C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1653C>T	3.37:g.47450663C>T						PTPN23_ENST00000431726.1_Silent_p.A425A	p.A551A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	17	1730	+			551					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1653C>T	CCDS2754.1																																																																																				0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		19	41	0	0	0	1	0	19	41				
PCDHGC4	56098	broad.mit.edu	37	5	140866638	140866638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140866638C>T	ENST00000306593.1	+	1	1898	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCTGTTCCTATCCCAGCT	0.532																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1897-1899)cCt>cTt									61.0	57.0	58.0					5																	140866638		2203	4300	6503	SO:0001583	missense	56098							g.chr5:140866638C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1898C>T	5.37:g.140866638C>T	ENSP00000306918:p.Pro633Leu					PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P633L	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1898	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1898C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.670168	0.29693	.	.	ENSG00000242419	ENST00000306593	T	0.56275	0.47	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.49270	0.1547	L	0.37800	1.135	0.22666	N	0.998872	B;P	0.35077	0.02;0.483	B;B	0.43360	0.03;0.417	T	0.42241	-0.9463	9	0.24483	T	0.36	.	11.1512	0.48460	0.0:0.8836:0.0:0.1164	.	633;633	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	633	ENSP00000306918:P633L	ENSP00000306918:P633L	P	+	2	0	PCDHGC4	140846822	0.011000	0.17503	0.995000	0.50966	0.954000	0.61252	2.433000	0.44793	2.665000	0.90641	0.591000	0.81541	CCT		0.532	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	20	0	0	0	1	0	11	20				
METTL4	64863	broad.mit.edu	37	18	2547411	2547411	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:2547411C>T	ENST00000574538.1	-	6	1792	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	METTL4_ENST00000319888.6_Silent_p.K339K	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	339					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AAAGTTCTTCCTTTATAAAAC	0.408																																						ENST00000319888.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(1015-1017)aaG>aaA		methyltransferase like 4							103.0	100.0	101.0					18																	2547411		2203	4300	6503	SO:0001819	synonymous_variant	64863				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	g.chr18:2547411C>T		CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.1017G>A	18.37:g.2547411C>T						METTL4_ENST00000574538.1_Silent_p.K339K	p.K339K			Q8N3J2	METL4_HUMAN			6	1815	-			339					B2RNA1|Q2TAA7|Q9H5U9	Silent	SNP	ENST00000574538.1	37	c.1017G>A	CCDS11826.1																																																																																				0.408	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254326.3	NM_022840		29	43	0	0	0	1	0	29	43				
PPP1R13L	10848	broad.mit.edu	37	19	45900259	45900259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900259G>A	ENST00000418234.2	-	4	334	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R86W	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	86	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCCGCCTTCCGGGGGGACCCT	0.687																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(256-258)Cgg>Tgg		protein phosphatase 1, regulatory subunit 13 like							9.0	14.0	12.0					19																	45900259		2076	4124	6200	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45900259G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.256C>T	19.37:g.45900259G>A	ENSP00000403902:p.Arg86Trp					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R86W	p.R86W	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	334	-		all_neural(266;0.224)|Ovarian(192;0.231)	86			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.256C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090204	0.76756	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.58940	0.3;0.3	4.86	1.1	0.20463	.	0.454073	0.21936	N	0.066945	T	0.51975	0.1706	N	0.19112	0.55	0.20074	N	0.999938	D;D	0.76494	0.999;0.99	P;B	0.56343	0.796;0.336	T	0.47886	-0.9082	10	0.66056	D	0.02	.	10.2556	0.43394	0.0:0.0:0.4783:0.5217	.	86;86	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	W	86	ENSP00000403902:R86W;ENSP00000354218:R86W	ENSP00000354218:R86W	R	-	1	2	PPP1R13L	50592099	.	.	0.997000	0.53966	0.982000	0.71751	.	.	0.528000	0.28580	0.462000	0.41574	CGG		0.687	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		6	13	0	0	0	1	0	6	13				
MYBPC1	4604	broad.mit.edu	37	12	102025393	102025393	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:102025393C>T	ENST00000550270.1	+	5	259	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.L73L|MYBPC1_ENST00000549145.1_Silent_p.L100L|MYBPC1_ENST00000361466.2_Silent_p.L112L|MYBPC1_ENST00000392934.3_Silent_p.L74L|MYBPC1_ENST00000441232.1_Silent_p.L87L|MYBPC1_ENST00000553190.1_Silent_p.L87L|MYBPC1_ENST00000547405.1_Silent_p.L61L|MYBPC1_ENST00000360610.2_Silent_p.L87L|MYBPC1_ENST00000361685.2_Silent_p.L112L|MYBPC1_ENST00000536007.1_Silent_p.L87L|MYBPC1_ENST00000541119.1_Silent_p.L75L|MYBPC1_ENST00000452455.2_Silent_p.L87L|MYBPC1_ENST00000545503.2_Silent_p.L87L|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	87	Ig-like C2-type 1.			LR -> SE (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGAAGATCTTCTGAGAAAACC	0.448																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(298-300)Ctg>Ttg		myosin binding protein C, slow type							88.0	88.0	88.0					12																	102025393		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102025393C>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.259C>T	12.37:g.102025393C>T						MYBPC1_ENST00000547405.1_Silent_p.L61L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Silent_p.L87L|MYBPC1_ENST00000541119.1_Silent_p.L75L|MYBPC1_ENST00000553190.1_Silent_p.L87L|MYBPC1_ENST00000441232.1_Silent_p.L87L|MYBPC1_ENST00000392934.3_Silent_p.L74L|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Silent_p.L112L|MYBPC1_ENST00000360610.2_Silent_p.L87L|MYBPC1_ENST00000550270.1_Silent_p.L87L|MYBPC1_ENST00000547509.1_Silent_p.L73L|MYBPC1_ENST00000361466.2_Silent_p.L112L|MYBPC1_ENST00000536007.1_Silent_p.L87L|MYBPC1_ENST00000452455.2_Silent_p.L87L	p.L100L			Q00872	MYPC1_HUMAN			6	398	+			87			Ig-like C2-type 1.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.298C>T	CCDS9085.1																																																																																				0.448	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			74	17	0	0	0	1	0	74	17				
MYH8	4626	broad.mit.edu	37	17	10304745	10304745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10304745C>T	ENST00000403437.2	-	24	3049	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	985					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAGGCCTGCCATCTCTTCTG	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2953-2955)atG>atA		myosin, heavy chain 8, skeletal muscle, perinatal							117.0	120.0	119.0					17																	10304745		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304745C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2955G>A	17.37:g.10304745C>T	ENSP00000384330:p.Met985Ile					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.M985I	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			24	3049	-			985					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2955G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470613	0.63625	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88509	-2.39	5.65	5.65	0.86999	.	0.000000	0.50627	U	0.000110	D	0.85856	0.5794	L	0.39326	1.205	0.58432	D	0.999999	B	0.12013	0.005	B	0.13407	0.009	T	0.79067	-0.1955	10	0.31617	T	0.26	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	985	P13535	MYH8_HUMAN	I	985	ENSP00000384330:M985I	ENSP00000252173:M985I	M	-	3	0	MYH8	10245470	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.344000	0.79328	2.941000	0.99782	0.655000	0.94253	ATG		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		55	84	0	0	0	1	0	55	84				
CFAP61	26074	broad.mit.edu	37	20	20226796	20226796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:20226796C>T	ENST00000245957.5	+	19	2172	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	C20orf26_ENST00000389656.3_Missense_Mutation_p.S55L|C20orf26_ENST00000377293.1_Missense_Mutation_p.S55L|C20orf26_ENST00000377309.2_Missense_Mutation_p.S55L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		699										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCCTGATTTCAACTCATGGA	0.328																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2095-2097)tCa>tTa		chromosome 20 open reading frame 26							68.0	75.0	73.0					20																	20226796		2203	4299	6502	SO:0001583	missense	26074							g.chr20:20226796C>T																												ENST00000245957.5:c.2096C>T	20.37:g.20226796C>T	ENSP00000245957:p.Ser699Leu					C20orf26_ENST00000389656.3_Missense_Mutation_p.S55L|C20orf26_ENST00000377293.1_Missense_Mutation_p.S55L|C20orf26_ENST00000377309.2_Missense_Mutation_p.S55L	p.S699L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	19	2172	+			699					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2096C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382463	0.82792	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.46063	0.88;1.25;0.88;1.25	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.68165	0.2971	M	0.79123	2.44	0.53688	D	0.999971	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;0.998	T	0.71318	-0.4629	10	0.87932	D	0	.	19.542	0.95278	0.0:1.0:0.0:0.0	.	679;55;699	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	L	639;55;55;679;699;55	ENSP00000366524:S55L;ENSP00000374307:S55L;ENSP00000245957:S699L;ENSP00000366508:S55L	ENSP00000245957:S699L	S	+	2	0	C20orf26	20174796	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.324000	0.79115	2.622000	0.88805	0.655000	0.94253	TCA		0.328	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	36	0	0	0	1	0	25	36				
KSR2	283455	broad.mit.edu	37	12	118199103	118199103	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:118199103C>T	ENST00000339824.5	-	4	1426	c.699G>A	c.(697-699)ccG>ccA	p.P233P	KSR2_ENST00000425217.1_Silent_p.P204P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	233	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACAAGCCCGGGTAGGCGT	0.726																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(610-612)ccG>ccA		kinase suppressor of ras 2							11.0	14.0	13.0					12																	118199103		1824	4014	5838	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199103C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.699G>A	12.37:g.118199103C>T						KSR2_ENST00000339824.5_Silent_p.P233P	p.P204P	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	666	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		233			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.612G>A																																																																																					0.726	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		5	10	0	0	0	1	0	5	10				
LOC146880	146880	broad.mit.edu	37	17	62754416	62754416	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62754416C>T	ENST00000400873.3	-	0	1784					NR_026899.1																						AATGAGCTTACATTTCTCCTC	0.398																																						ENST00000400873.3																			0																																																			146880							g.chr17:62754416C>T																													17.37:g.62754416C>T								NR_026899.1						0	1784	-									RNA	SNP	ENST00000400873.3	37			.	.	.	.	.	.	.	.	.	.	.	12.84	2.057194	0.36277	.	.	ENSG00000215769	ENST00000400873	.	.	.	3.0	2.01	0.26516	.	0.000000	0.64402	U	0.000002	T	0.57548	0.2061	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68561	-0.5376	5	0.56958	D	0.05	.	10.0757	0.42360	0.0:0.8972:0.0:0.1028	.	.	.	.	I	53	.	ENSP00000383670:V53I	V	-	1	0	AC103810.2	60184878	1.000000	0.71417	0.756000	0.31282	0.950000	0.60333	3.805000	0.55575	0.582000	0.29556	0.511000	0.50034	GTA		0.398	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				14	22	0	0	0	1	0	14	22				
H1FNT	341567	broad.mit.edu	37	12	48723521	48723521	+	Silent	SNP	C	C	T	rs375416367		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48723521C>T	ENST00000335017.1	+	1	759	c.447C>T	c.(445-447)gcC>gcT	p.A149A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	149	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGACCCCAGCCGCGCCCCGGA	0.711																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(445-447)gcC>gcT		H1 histone family, member N, testis-specific		C		0,4164		0,0,2082	6.0	9.0	8.0		447	-8.4	0.0	12		8	2,8266		0,2,4132	no	coding-synonymous	H1FNT	NM_181788.1		0,2,6214	TT,TC,CC		0.0242,0.0,0.0161		149/256	48723521	2,12430	2082	4134	6216	SO:0001819	synonymous_variant	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723521C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.447C>T	12.37:g.48723521C>T							p.A149A	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	759	+			149			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	c.447C>T	CCDS8762.1																																																																																				0.711	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		5	6	0	0	0	1	0	5	6				
VCAN	1462	broad.mit.edu	37	5	82836302	82836302	+	Missense_Mutation	SNP	G	G	A	rs147255921	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:82836302G>A	ENST00000265077.3	+	8	8045	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1507K|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2494	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTTCATTCAGAGCAGAACAA	0.473																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(7480-7482)Gag>Aag		versican							72.0	70.0	70.0					5																	82836302		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836302G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7480G>A	5.37:g.82836302G>A	ENSP00000265077:p.Glu2494Lys					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1507K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	p.E2494K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8045	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2494			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7480G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671725	0.47781	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.51325	0.71;0.71	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000007	T	0.64068	0.2565	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64042	0.913;0.921	T	0.54649	-0.8262	10	0.21540	T	0.41	.	18.4603	0.90736	0.0:0.0:1.0:0.0	.	1507;2494	P13611-2;P13611	.;CSPG2_HUMAN	K	2494;1507	ENSP00000265077:E2494K;ENSP00000340062:E1507K	ENSP00000265077:E2494K	E	+	1	0	VCAN	82872058	1.000000	0.71417	0.384000	0.26145	0.331000	0.28603	4.429000	0.59901	2.894000	0.99253	0.591000	0.81541	GAG		0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		26	38	0	0	0	1	0	26	38				
CNGB3	54714	broad.mit.edu	37	8	87588325	87588325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:87588325C>T	ENST00000320005.5	-	18	2184	c.2137G>A	c.(2137-2139)Gga>Aga	p.G713R		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	713					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ttttcttttccttcttcctct	0.294																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(2137-2139)Gga>Aga		cyclic nucleotide gated channel beta 3							53.0	55.0	54.0					8																	87588325		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87588325C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2137G>A	8.37:g.87588325C>T	ENSP00000316605:p.Gly713Arg						p.G713R	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			18	2184	-			713					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.2137G>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	7.421	0.636717	0.14386	.	.	ENSG00000170289	ENST00000320005	T	0.60920	0.15	4.08	2.24	0.28232	.	22.980200	0.00721	U	0.000891	T	0.39332	0.1074	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.15870	0.014;0.006	T	0.25467	-1.0131	10	0.16420	T	0.52	.	5.0853	0.14678	0.0:0.6715:0.0:0.3285	.	708;713	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	R	713	ENSP00000316605:G713R	ENSP00000316605:G713R	G	-	1	0	CNGB3	87657441	0.000000	0.05858	0.064000	0.19789	0.398000	0.30690	-0.276000	0.08514	1.050000	0.40346	0.467000	0.42956	GGA		0.294	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		9	25	0	0	0	1	0	9	25				
NSUN2	54888	broad.mit.edu	37	5	6606978	6606978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:6606978G>A	ENST00000264670.6	-	14	1867	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L	NSUN2_ENST00000506139.1_Missense_Mutation_p.P484L|NSUN2_ENST00000539938.1_Missense_Mutation_p.P283L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	519					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAATACAAATGGATCTTCTTT	0.313																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1555-1557)cCa>cTa		NOP2/Sun RNA methyltransferase family, member 2							65.0	68.0	67.0					5																	6606978		2203	4299	6502	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6606978G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1556C>T	5.37:g.6606978G>A	ENSP00000264670:p.Pro519Leu					NSUN2_ENST00000506139.1_Missense_Mutation_p.P484L|NSUN2_ENST00000539938.1_Missense_Mutation_p.P283L	p.P519L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			14	1867	-			519					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1556C>T	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692987	0.88735	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.64618	0.63;-0.11;0.62	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87480	0.2420	10	0.87932	D	0	-25.2142	19.4662	0.94943	0.0:0.0:1.0:0.0	.	484;519	B4DQW2;Q08J23	.;NSUN2_HUMAN	L	519;283;484	ENSP00000264670:P519L;ENSP00000444338:P283L;ENSP00000420957:P484L	ENSP00000264670:P519L	P	-	2	0	NSUN2	6659978	1.000000	0.71417	0.716000	0.30569	0.831000	0.47069	6.441000	0.73439	2.666000	0.90696	0.561000	0.74099	CCA		0.313	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		31	41	0	0	0	1	0	31	41				
HMBOX1	79618	broad.mit.edu	37	8	28876342	28876342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28876342C>T	ENST00000397358.3	+	7	1467	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255S|HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	255					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ACAAACGCCTCCCCCAGTCTC	0.493																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(763-765)Ccc>Tcc		homeobox containing 1							120.0	113.0	115.0					8																	28876342		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28876342C>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.763C>T	8.37:g.28876342C>T	ENSP00000380516:p.Pro255Ser					HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255S	p.P255S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	7	1467	+		Ovarian(32;0.0192)	255					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.763C>T	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984689	0.74474	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99855	-7.19;-7.2;-5.98;-7.19;-7.19;-7.2	5.93	5.93	0.95920	.	0.048264	0.85682	D	0.000000	D	0.99045	0.9673	N	0.19112	0.55	0.58432	D	0.999995	B;B;B;P;P;B	0.47762	0.264;0.085;0.138;0.458;0.9;0.085	B;B;B;B;B;B	0.43082	0.055;0.01;0.022;0.194;0.407;0.01	D	0.99982	1.2718	10	0.05959	T	0.93	-7.4098	20.3465	0.98790	0.0:1.0:0.0:0.0	.	255;255;255;255;255;255	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	S	255	ENSP00000287701:P255S;ENSP00000401769:P255S;ENSP00000384261:P255S;ENSP00000430059:P255S;ENSP00000380516:P255S;ENSP00000430110:P255S	ENSP00000287701:P255S	P	+	1	0	HMBOX1	28932261	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.733000	0.68571	2.798000	0.96311	0.655000	0.94253	CCC		0.493	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		37	48	0	0	0	1	0	37	48				
MAP7D3	79649	broad.mit.edu	37	X	135323338	135323338	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:135323338C>T	ENST00000316077.9	-	5	736	c.516G>A	c.(514-516)gcG>gcA	p.A172A	MAP7D3_ENST00000370661.1_Silent_p.A172A|MAP7D3_ENST00000370663.5_Silent_p.A154A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	172					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGAATTCGCCATTGCAG	0.358																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(514-516)gcG>gcA		MAP7 domain containing 3							64.0	59.0	60.0					X																	135323338		1855	4109	5964	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135323338C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.516G>A	X.37:g.135323338C>T						MAP7D3_ENST00000370661.1_Silent_p.A172A|MAP7D3_ENST00000370663.5_Silent_p.A154A	p.A172A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			5	736	-	Acute lymphoblastic leukemia(192;0.000127)		172					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.516G>A	CCDS44004.1																																																																																				0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			45	37	0	0	0	1	0	45	37				
FAM13B	51306	broad.mit.edu	37	5	137354760	137354760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:137354760G>A	ENST00000033079.3	-	3	492	c.41C>T	c.(40-42)tCc>tTc	p.S14F	FAM13B_ENST00000420893.2_Missense_Mutation_p.S14F|FAM13B_ENST00000425075.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	14					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGCAAGAACGGAGTTGCAGTT	0.433																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(40-42)tCc>tTc		family with sequence similarity 13, member B							100.0	96.0	98.0					5																	137354760		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137354760G>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.41C>T	5.37:g.137354760G>A	ENSP00000033079:p.Ser14Phe					FAM13B_ENST00000420893.2_Missense_Mutation_p.S14F|FAM13B_ENST00000425075.2_Intron	p.S14F	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			3	492	-			14					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.41C>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390668	0.82902	.	.	ENSG00000031003	ENST00000033079;ENST00000420893;ENST00000514310;ENST00000502471;ENST00000509596;ENST00000508403;ENST00000505961	T;T;T;T	0.65916	2.89;2.9;2.02;-0.18	5.74	5.74	0.90152	.	0.303615	0.38111	N	0.001816	T	0.67344	0.2883	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.72597	-0.4245	10	0.72032	D	0.01	-3.054	18.102	0.89508	0.0:0.0:1.0:0.0	.	14;14	Q9NYF5-2;Q9NYF5	.;FA13B_HUMAN	F	14	ENSP00000033079:S14F;ENSP00000388521:S14F;ENSP00000425326:S14F;ENSP00000424785:S14F	ENSP00000033079:S14F	S	-	2	0	FAM13B	137382659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.624000	0.90961	2.716000	0.92895	0.563000	0.77884	TCC		0.433	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			34	57	0	0	0	1	0	34	57				
YY1AP1	55249	broad.mit.edu	37	1	155630378	155630378	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155630378G>A	ENST00000295566.4	-	11	1484	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	YY1AP1_ENST00000359205.5_Silent_p.A430A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Silent_p.A410A|YY1AP1_ENST00000311573.5_Silent_p.A410A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Silent_p.A441A|YY1AP1_ENST00000404643.1_Silent_p.A421A|YY1AP1_ENST00000368340.5_Silent_p.A559A|YY1AP1_ENST00000355499.4_Silent_p.A441A|YY1AP1_ENST00000347088.5_Silent_p.A441A|YY1AP1_ENST00000535662.1_Silent_p.A287A|YY1AP1_ENST00000368339.5_Silent_p.A579A|YY1AP1_ENST00000361831.5_Silent_p.A430A	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	487					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTCGGAGGGGCTTCTGAAT	0.557																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(1675-1677)gcC>gcT		YY1 associated protein 1							78.0	91.0	87.0					1																	155630378		2203	4300	6503	SO:0001819	synonymous_variant	55249							g.chr1:155630378G>A	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1461C>T	1.37:g.155630378G>A						YY1AP1_ENST00000407221.1_Silent_p.A410A|YY1AP1_ENST00000359205.5_Silent_p.A430A|YY1AP1_ENST00000311573.5_Silent_p.A410A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.A441A|YY1AP1_ENST00000368330.2_Silent_p.A441A|YY1AP1_ENST00000361831.5_Silent_p.A430A|YY1AP1_ENST00000295566.4_Silent_p.A487A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Silent_p.A441A|YY1AP1_ENST00000404643.1_Silent_p.A421A|YY1AP1_ENST00000535662.1_Silent_p.A287A|YY1AP1_ENST00000368339.5_Silent_p.A579A	p.A559A	NM_001198904.1	NP_001185833.1					10	1785	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.1677C>T	CCDS1115.1																																																																																				0.557	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		27	66	0	0	0	1	0	27	66				
RNF43	54894	broad.mit.edu	37	17	56448300	56448300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56448300G>A	ENST00000584437.1	-	2	2302	c.347C>T	c.(346-348)cCc>cTc	p.P116L	RNF43_ENST00000577716.1_Missense_Mutation_p.P116L|RNF43_ENST00000583753.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116L|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	116					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGGGCGGGGGGCCCGTCG	0.607																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(346-348)cCc>cTc		ring finger protein 43							56.0	51.0	53.0					17																	56448300		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448300G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.347C>T	17.37:g.56448300G>A	ENSP00000463069:p.Pro116Leu					RNF43_ENST00000577716.1_Missense_Mutation_p.P116L|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116L|RNF43_ENST00000577625.1_5'UTR	p.P116L			Q68DV7	RNF43_HUMAN			2	2302	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		116					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.347C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016315	0.93404	.	.	ENSG00000108375	ENST00000407977	T	0.66815	-0.23	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000004	T	0.74520	0.3727	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.75360	-0.3345	10	0.51188	T	0.08	-7.6233	18.2765	0.90085	0.0:0.0:1.0:0.0	.	116	Q68DV7	RNF43_HUMAN	L	116	ENSP00000385328:P116L	ENSP00000385328:P116L	P	-	2	0	RNF43	53803299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.865000	0.62998	2.555000	0.86185	0.655000	0.94253	CCC		0.607	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		24	45	0	0	0	1	0	24	45				
ZNF521	25925	broad.mit.edu	37	18	22806824	22806824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806824G>A	ENST00000361524.3	-	4	1206	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.S353F|ZNF521_ENST00000584787.1_Missense_Mutation_p.S133F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	353					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)					ACTGGACACGGAGGTATAGCC	0.572			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.(1057-1059)tCc>tTc		zinc finger protein 521							91.0	85.0	87.0					18																	22806824		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.chr18:22806824G>A	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.1058C>T	18.37:g.22806824G>A	ENSP00000354794:p.Ser353Phe					ZNF521_ENST00000584787.1_Missense_Mutation_p.S133F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S353F	p.S353F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1206	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		353					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1058C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827481	0.32329	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10005	2.92;2.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.24699	0.0599	L	0.29908	0.895	0.53688	D	0.999979	D	0.76494	0.999	D	0.87578	0.998	T	0.00605	-1.1648	10	0.28530	T	0.3	-25.1569	20.8794	0.99867	0.0:0.0:1.0:0.0	.	353	Q96K83	ZN521_HUMAN	F	353;387;353	ENSP00000354794:S353F;ENSP00000382352:S353F	ENSP00000354794:S353F	S	-	2	0	ZNF521	21060822	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCC		0.572	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		23	41	0	0	0	1	0	23	41				
FLNA	2316	broad.mit.edu	37	X	153590892	153590892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153590892G>A	ENST00000369850.3	-	17	2695	c.2459C>T	c.(2458-2460)gCt>gTt	p.A820V	FLNA_ENST00000344736.4_Missense_Mutation_p.A820V|FLNA_ENST00000422373.1_Missense_Mutation_p.A820V|FLNA_ENST00000360319.4_Missense_Mutation_p.A820V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	820					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GTCGATGTCAGCTTCGGCGGG	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(2458-2460)gCt>gTt		filamin A, alpha							84.0	94.0	91.0					X																	153590892		2092	4188	6280	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590892G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2459C>T	X.37:g.153590892G>A	ENSP00000358866:p.Ala820Val					FLNA_ENST00000369850.3_Missense_Mutation_p.A820V|FLNA_ENST00000360319.4_Missense_Mutation_p.A820V|FLNA_ENST00000344736.4_Missense_Mutation_p.A820V	p.A820V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			17	2707	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		820					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2459C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540895	0.65085	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.13	5.13	0.70059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.90844	0.7124	M	0.71581	2.175	0.80722	D	1	P;D	0.56035	0.914;0.974	P;D	0.67725	0.824;0.953	D	0.91487	0.5209	10	0.62326	D	0.03	.	13.7504	0.62904	0.0:0.0:0.8364:0.1636	.	820;820	P21333-2;P21333	.;FLNA_HUMAN	V	820;793;820;820;820	ENSP00000353467:A820V;ENSP00000416926:A820V;ENSP00000358866:A820V;ENSP00000358863:A820V	ENSP00000358863:A820V	A	-	2	0	FLNA	153244086	0.995000	0.38212	0.985000	0.45067	0.328000	0.28507	2.201000	0.42734	2.272000	0.75746	0.529000	0.55759	GCT		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			71	111	0	0	0	1	0	71	111				
TCN1	6947	broad.mit.edu	37	11	59631446	59631446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59631446C>T	ENST00000257264.3	-	2	297	c.193G>A	c.(193-195)Gga>Aga	p.G65R	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	65	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)	ATCTGGATTCCAACAAGTTTG	0.383																																						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.(193-195)Gga>Aga		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						239.0	229.0	233.0					11																	59631446		2201	4294	6495	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59631446C>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.193G>A	11.37:g.59631446C>T	ENSP00000257264:p.Gly65Arg					TCN1_ENST00000532419.1_5'UTR	p.G65R	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			2	297	-		all_epithelial(135;0.198)	65					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.193G>A	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	3.221	-0.159572	0.06544	.	.	ENSG00000134827	ENST00000257264	T	0.38240	1.15	4.59	0.0164	0.14108	.	0.204256	0.32884	N	0.005540	T	0.30947	0.0781	M	0.69358	2.11	0.09310	N	1	B	0.29716	0.255	B	0.33042	0.157	T	0.18650	-1.0330	10	0.44086	T	0.13	.	4.336	0.11087	0.0:0.4128:0.3639:0.2233	.	65	P20061	TCO1_HUMAN	R	65	ENSP00000257264:G65R	ENSP00000257264:G65R	G	-	1	0	TCN1	59388022	0.001000	0.12720	0.021000	0.16686	0.005000	0.04900	0.211000	0.17474	0.207000	0.20607	0.655000	0.94253	GGA		0.383	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		48	90	0	0	0	1	0	48	90				
ABCC4	10257	broad.mit.edu	37	13	95813449	95813449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813449G>A	ENST00000376887.4	-	19	2563	c.2449C>T	c.(2449-2451)Cca>Tca	p.P817S	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742S|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTACCTATTGGATTTCTATCA	0.348																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2449-2451)Cca>Tca		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						73.0	74.0	73.0					13																	95813449		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95813449G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2449C>T	13.37:g.95813449G>A	ENSP00000366084:p.Pro817Ser					ABCC4_ENST00000536256.1_Missense_Mutation_p.P742S|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817S	p.P817S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			19	2563	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		817			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2449C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439070	0.83885	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91464	-2.43;-2.43;-2.85;-2.85	5.45	5.45	0.79879	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.64830	0.99;0.982;0.986;0.994	D;P;D;P	0.63283	0.913;0.775;0.913;0.901	D	0.95465	0.8546	10	0.59425	D	0.04	.	19.6695	0.95905	0.0:0.0:1.0:0.0	.	742;770;817;817	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	S	770;817;742;817	ENSP00000388657:P770S;ENSP00000366084:P817S;ENSP00000442024:P742S;ENSP00000398562:P817S	ENSP00000366084:P817S	P	-	1	0	ABCC4	94611450	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	9.151000	0.94674	2.701000	0.92244	0.650000	0.86243	CCA		0.348	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		9	19	0	0	0	1	0	9	19				
ANKRD30A	91074	broad.mit.edu	37	10	37508061	37508061	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:37508061G>A	ENST00000602533.1	+	34	3352	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E1204K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1085K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1141					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GATTTTAAAAGAAAAGAATGC	0.348																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3610-3612)Gaa>Aaa		ankyrin repeat domain 30A							109.0	109.0	109.0					10																	37508061		1810	4063	5873	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508061G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3253G>A	10.37:g.37508061G>A	ENSP00000473551:p.Glu1085Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1085K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1085K	p.E1204K			Q9BXX3	AN30A_HUMAN			40	3709	+			1170					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3610G>A		.	.	.	.	.	.	.	.	.	.	g	6.739	0.505047	0.12822	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.17854	2.25;2.25	2.81	0.663	0.17885	.	.	.	.	.	T	0.17152	0.0412	M	0.65677	2.01	0.26390	N	0.976596	B	0.24258	0.1	B	0.23419	0.046	T	0.22906	-1.0203	9	0.41790	T	0.15	.	5.623	0.17467	0.1312:0.2024:0.6664:0.0	.	1141	Q9BXX3	AN30A_HUMAN	K	1085;1204	ENSP00000354432:E1085K;ENSP00000363792:E1204K	ENSP00000354432:E1085K	E	+	1	0	ANKRD30A	37548067	1.000000	0.71417	0.512000	0.27736	0.079000	0.17450	0.597000	0.24059	0.341000	0.23771	0.465000	0.42564	GAA		0.348	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		38	85	0	0	0	1	0	38	85				
SEC23IP	11196	broad.mit.edu	37	10	121671613	121671613	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:121671613G>A	ENST00000369075.3	+	6	1321	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	SEC23IP_ENST00000543134.1_Missense_Mutation_p.G206R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	417					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACGCAAGATGGACAGACAAG	0.433																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(1249-1251)Gga>Aga		SEC23 interacting protein							216.0	196.0	202.0					10																	121671613		2203	4300	6503	SO:0001583	missense	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121671613G>A	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1249G>A	10.37:g.121671613G>A	ENSP00000358071:p.Gly417Arg					SEC23IP_ENST00000543134.1_Missense_Mutation_p.G206R	p.G417R	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	6	1321	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	417					D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	c.1249G>A	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637617	0.87760	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.36878	1.23;1.23;1.23	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.74674	0.984;0.943	T	0.60530	-0.7245	10	0.40728	T	0.16	-21.7268	19.8965	0.96963	0.0:0.0:1.0:0.0	.	206;417	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	R	417;206;121	ENSP00000358071:G417R;ENSP00000438773:G206R;ENSP00000396906:G121R	ENSP00000358071:G417R	G	+	1	0	SEC23IP	121661603	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.240000	0.95396	2.771000	0.95319	0.563000	0.77884	GGA		0.433	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			53	74	0	0	0	1	0	53	74				
NCOR2	9612	broad.mit.edu	37	12	124824864	124824864	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124824864C>T	ENST00000405201.1	-	36	5464	c.5464G>A	c.(5464-5466)Gag>Aag	p.E1822K	NCOR2_ENST00000404121.2_Missense_Mutation_p.E1383K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E1812K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1813K|NCOR2_ENST00000356219.3_Missense_Mutation_p.E1829K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1812K			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1830					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTGCGTGCTCCACCGTCGTG	0.682																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5485-5487)Gag>Aag		nuclear receptor corepressor 2							53.0	64.0	60.0					12																	124824864		2085	4211	6296	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824864C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5464G>A	12.37:g.124824864C>T	ENSP00000384018:p.Glu1822Lys					NCOR2_ENST00000404621.1_Missense_Mutation_p.E1812K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1812K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1822K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1383K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1813K	p.E1829K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	37	5640	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1830					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.5485G>A	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672934|2.672934	0.47781|0.47781	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285|ENST00000440187;ENST00000453428	T;T;T;T;T;T|.	0.21932|.	1.98;2.27;2.0;2.27;2.01;2.27|.	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	0.125000|.	0.52532|.	D|.	0.000070|.	T|T	0.68906|0.68906	0.3052|0.3052	L|L	0.53249|0.53249	1.67|1.67	0.53005|0.53005	D|D	0.999968|0.999968	D;D;D|.	0.71674|.	0.998;0.997;0.998|.	D;D;D|.	0.78314|.	0.989;0.98;0.991|.	T|T	0.68443|0.68443	-0.5407|-0.5407	10|5	0.49607|.	T|.	0.09|.	-13.7175|-13.7175	16.4861|16.4861	0.84184|0.84184	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1812;1813;1822|.	C9J0Q5;C9J239;C9JFD3|.	.;.;.|.	K|E	1822;1812;1829;1813;1821;1383;1812|56;151	ENSP00000384018:E1822K;ENSP00000384202:E1812K;ENSP00000348551:E1829K;ENSP00000380513:E1813K;ENSP00000385618:E1383K;ENSP00000400281:E1812K|.	ENSP00000348551:E1829K|.	E|G	-|-	1|2	0|0	NCOR2|NCOR2	123390817|123390817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.043000|0.043000	0.13939|0.13939	7.129000|7.129000	0.77225|0.77225	1.858000|1.858000	0.53909|0.53909	0.491000|0.491000	0.48974|0.48974	GAG|GGA		0.682	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		18	30	0	0	0	1	0	18	30				
TTYH3	80727	broad.mit.edu	37	7	2686532	2686532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686532G>A	ENST00000258796.7	+	2	374	c.169G>A	c.(169-171)Gac>Aac	p.D57N	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Missense_Mutation_p.D57N	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	57					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTCGCCCTGGACCTCCTCTT	0.706																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(169-171)Gac>Aac		tweety family member 3							28.0	27.0	27.0					7																	2686532		2194	4294	6488	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686532G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.169G>A	7.37:g.2686532G>A	ENSP00000258796:p.Asp57Asn					TTYH3_ENST00000407643.1_Missense_Mutation_p.D57N	p.D57N	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	374	+		Ovarian(82;0.0112)	57					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.169G>A	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403333	0.25291	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000400376	T;T;T	0.11495	2.77;2.77;2.77	4.95	3.14	0.36123	.	0.047152	0.85682	N	0.000000	T	0.08268	0.0206	L	0.31752	0.955	0.80722	D	1	B	0.14438	0.01	B	0.19946	0.027	T	0.23655	-1.0182	10	0.19147	T	0.46	.	11.367	0.49677	0.1497:0.0:0.8503:0.0	.	57	Q9C0H2	TTYH3_HUMAN	N	57;57;64	ENSP00000258796:D57N;ENSP00000385316:D57N;ENSP00000383227:D64N	ENSP00000258796:D57N	D	+	1	0	TTYH3	2653058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.500000	0.73687	0.493000	0.27837	0.555000	0.69702	GAC		0.706	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		12	12	0	0	0	1	0	12	12				
PASD1	139135	broad.mit.edu	37	X	150773139	150773139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150773139C>T	ENST00000370357.4	+	3	295	c.50C>T	c.(49-51)tCt>tTt	p.S17F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	17						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAAAGCTCTCAAAGGAAA	0.328																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(49-51)tCt>tTt		PAS domain containing 1							80.0	67.0	72.0					X																	150773139		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150773139C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.50C>T	X.37:g.150773139C>T	ENSP00000359382:p.Ser17Phe						p.S17F	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			3	295	+	Acute lymphoblastic leukemia(192;6.56e-05)		17					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.50C>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290197	0.23478	.	.	ENSG00000166049	ENST00000370357	T	0.69561	-0.41	4.19	-0.0454	0.13851	.	.	.	.	.	T	0.73079	0.3541	M	0.67397	2.05	0.09310	N	1	D	0.69078	0.997	D	0.66351	0.943	T	0.60058	-0.7337	9	0.59425	D	0.04	.	4.057	0.09821	0.0:0.3807:0.3796:0.2397	.	17	Q8IV76	PASD1_HUMAN	F	17	ENSP00000359382:S17F	ENSP00000359382:S17F	S	+	2	0	PASD1	150523795	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.077000	0.11394	-0.120000	0.11809	0.544000	0.68410	TCT		0.328	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		14	8	0	0	0	1	0	14	8				
SBF1	6305	broad.mit.edu	37	22	50885811	50885811	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50885811C>T	ENST00000390679.3	-	39	5629	c.5445G>A	c.(5443-5445)gtG>gtA	p.V1815V	SBF1_ENST00000348911.6_Silent_p.V1816V|SBF1_ENST00000380817.3_Silent_p.V1841V			O95248	MTMR5_HUMAN	SET binding factor 1	1815	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCAGGTGCCACAGCCTCCA	0.642																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(5521-5523)gtG>gtA		SET binding factor 1							70.0	80.0	76.0					22																	50885811		2178	4265	6443	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50885811C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.5445G>A	22.37:g.50885811C>T						SBF1_ENST00000348911.6_Silent_p.V1816V|SBF1_ENST00000390679.3_Silent_p.V1815V	p.V1841V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	40	5706	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1815			PH.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.5523G>A		.	.	.	.	.	.	.	.	.	.	C	8.353	0.831429	0.16820	.	.	ENSG00000100241	ENST00000418590	.	.	.	3.22	0.381	0.16228	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23940	-1.0174	4	.	.	.	.	2.712	0.05177	0.1461:0.3109:0.4239:0.1191	.	.	.	.	S	363	.	.	G	-	1	0	SBF1	49232677	0.048000	0.20356	0.877000	0.34402	0.875000	0.50365	-0.098000	0.11024	0.202000	0.20498	0.462000	0.41574	GGC		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				29	69	0	0	0	1	0	29	69				
ADAMTS18	170692	broad.mit.edu	37	16	77387770	77387770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:77387770C>T	ENST00000282849.5	-	10	1892	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	492	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACTAGACACCCCGCCTGAGGT	0.418																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1474-1476)Ggg>Agg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							262.0	240.0	247.0					16																	77387770		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77387770C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1474G>A	16.37:g.77387770C>T	ENSP00000282849:p.Gly492Arg						p.G492R	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			10	1892	-			492			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1474G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	9.081	0.999217	0.19121	.	.	ENSG00000140873	ENST00000282849	T	0.03496	3.91	5.22	4.21	0.49690	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.270254	0.35936	N	0.002898	T	0.02727	0.0082	N	0.04746	-0.17	0.25163	N	0.990334	B;B	0.20261	0.029;0.043	B;B	0.30495	0.02;0.116	T	0.49716	-0.8910	10	0.18276	T	0.48	.	15.5071	0.75748	0.1473:0.8527:0.0:0.0	.	492;492	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	R	492	ENSP00000282849:G492R	ENSP00000282849:G492R	G	-	1	0	ADAMTS18	75945271	0.994000	0.37717	0.952000	0.39060	0.857000	0.48899	3.453000	0.52978	2.725000	0.93324	0.644000	0.83932	GGG		0.418	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			52	85	0	0	0	1	0	52	85				
GYS1	2997	broad.mit.edu	37	19	49485572	49485572	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49485572G>A	ENST00000323798.3	-	7	1198	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	GYS1_ENST00000541188.1_Silent_p.F254F|GYS1_ENST00000540532.1_Missense_Mutation_p.S215F|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000263276.6_Silent_p.F270F	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	334					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCTTGTTGGAGAACTCATAGC	0.537																																						ENST00000540532.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(643-645)tCt>tTt		glycogen synthase 1 (muscle)							106.0	95.0	99.0					19																	49485572		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49485572G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1002C>T	19.37:g.49485572G>A						GYS1_ENST00000541188.1_Silent_p.F254F|GYS1_ENST00000263276.6_Silent_p.F270F|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000323798.3_Silent_p.F334F	p.S215F			P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	5	898	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	0					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.644C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869893	0.33069	.	.	ENSG00000104812	ENST00000540532	T	0.24538	1.85	5.21	1.45	0.22620	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.25643	N	0.986188	.	.	.	.	.	.	T	0.23476	-1.0187	5	.	.	.	-29.4332	7.454	0.27255	0.3505:0.0:0.6495:0.0	.	.	.	.	F	215	ENSP00000445197:S215F	.	S	-	2	0	GYS1	54177384	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.444000	0.35068	0.692000	0.31613	0.650000	0.86243	TCT		0.537	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		41	58	0	0	0	1	0	41	58				
OR4K1	79544	broad.mit.edu	37	14	20404411	20404411	+	Missense_Mutation	SNP	G	G	A	rs149331048		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:20404411G>A	ENST00000285600.4	+	1	645	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATATGAAATGGAAATTATGAC	0.448																																						ENST00000285600.4																			1	Substitution - Missense(1)	p.E196K(1)	skin(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(586-588)Gaa>Aaa		olfactory receptor, family 4, subfamily K, member 1							158.0	161.0	160.0					14																	20404411		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404411G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.586G>A	14.37:g.20404411G>A	ENSP00000285600:p.Glu196Lys						p.E196K	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	645	+	all_cancers(95;0.00108)		196					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.586G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545179	0.45280	.	.	ENSG00000155249	ENST00000285600	T	0.00207	8.55	4.82	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.115226	0.39615	N	0.001302	T	0.00356	0.0011	L	0.53617	1.68	0.09310	N	0.999999	D	0.59357	0.985	P	0.62089	0.898	T	0.51012	-0.8759	10	0.48119	T	0.1	.	9.2789	0.37716	0.1778:0.0:0.8222:0.0	.	196	Q8NGD4	OR4K1_HUMAN	K	196	ENSP00000285600:E196K	ENSP00000285600:E196K	E	+	1	0	OR4K1	19474251	0.000000	0.05858	0.916000	0.36221	0.474000	0.32979	-0.181000	0.09740	0.640000	0.30582	-0.222000	0.12452	GAA		0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			37	52	0	0	0	1	0	37	52				
ABCA3	21	broad.mit.edu	37	16	2369821	2369821	+	Silent	SNP	G	G	A	rs139695699	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2369821G>A	ENST00000301732.5	-	8	1334	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	ABCA3_ENST00000382381.3_Silent_p.L212L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	212					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGCACGGCCAGGAAGCCTTCC	0.642																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70	GRCh37	CM072811	ABCA3	M	rs139695699	c.(634-636)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 3							86.0	73.0	77.0					16																	2369821		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369821G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.634C>T	16.37:g.2369821G>A						ABCA3_ENST00000382381.3_Silent_p.L212L	p.L212L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			8	1334	-		Ovarian(90;0.17)	212					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.634C>T	CCDS10466.1																																																																																				0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		21	36	0	0	0	1	0	21	36				
PHLDB2	90102	broad.mit.edu	37	3	111603463	111603463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:111603463G>A	ENST00000431670.2	+	2	950	c.539G>A	c.(538-540)tGg>tAg	p.W180*	PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.W207*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.W180*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	180						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGGCCATGTGGAATGGAAGT	0.532																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(538-540)tGg>tAg		pleckstrin homology-like domain, family B, member 2							60.0	59.0	59.0					3																	111603463		2203	4300	6503	SO:0001587	stop_gained	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603463G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.539G>A	3.37:g.111603463G>A	ENSP00000405405:p.Trp180*					PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.W207*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.W180*	p.W180*	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	950	+			180					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Nonsense_Mutation	SNP	ENST00000431670.2	37	c.539G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.126643	0.97305	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	.	.	.	5.61	5.61	0.85477	.	0.443833	0.26816	N	0.022347	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9138	0.86146	0.0:0.0:1.0:0.0	.	.	.	.	X	207;207;180;180;180;180;180;180;180	.	ENSP00000352764:W207X	W	+	2	0	PHLDB2	113086153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.070000	0.76763	2.813000	0.96785	0.655000	0.94253	TGG		0.532	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		29	42	0	0	0	1	0	29	42				
HCAR2	338442	broad.mit.edu	37	12	123186935	123186935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:123186935G>A	ENST00000328880.5	-	1	955	c.896C>T	c.(895-897)cCa>cTa	p.P299L	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	299					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GGGAAAGGATGGGCTGGAGAA	0.532																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(895-897)cCa>cTa		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						66.0	55.0	59.0					12																	123186935		2203	4297	6500	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123186935G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.896C>T	12.37:g.123186935G>A	ENSP00000375066:p.Pro299Leu					RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.P299L	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	955	-			299					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.896C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974282	0.74246	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38560	1.13	5.74	3.82	0.43975	.	0.000000	0.64402	D	0.000004	T	0.44138	0.1279	M	0.73217	2.22	0.54753	D	0.999982	D	0.52996	0.957	P	0.44897	0.463	T	0.49872	-0.8893	10	0.59425	D	0.04	-10.7792	9.9111	0.41406	0.077:0.0:0.7855:0.1375	.	299	Q8TDS4	HCAR2_HUMAN	L	299	ENSP00000375066:P299L	ENSP00000375066:P299L	P	-	2	0	HCAR2	121752888	1.000000	0.71417	0.908000	0.35775	0.966000	0.64601	4.396000	0.59684	1.568000	0.49683	0.563000	0.77884	CCA		0.532	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		5	66	0	0	0	1	0	5	66				
TONSL	4796	broad.mit.edu	37	8	145661200	145661200	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145661200G>A	ENST00000409379.3	-	17	2645	c.2616C>T	c.(2614-2616)ccC>ccT	p.P872P	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	872					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTCGGGCACGGGGCCTGCTCT	0.692																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2614-2616)ccC>ccT		tonsoku-like, DNA repair protein							41.0	50.0	47.0					8																	145661200		2196	4292	6488	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661200G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2616C>T	8.37:g.145661200G>A						AC084125.4_ENST00000544423.1_RNA	p.P872P	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			17	2645	-			872					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.2616C>T	CCDS34968.2																																																																																				0.692	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		47	84	0	0	0	1	0	47	84				
EP400	57634	broad.mit.edu	37	12	132514262	132514262	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132514262C>T	ENST00000333577.4	+	29	5615	c.5506C>T	c.(5506-5508)Cct>Tct	p.P1836S	EP400_ENST00000332482.4_Missense_Mutation_p.P1763S|EP400_ENST00000389561.2_Missense_Mutation_p.P1800S|EP400_ENST00000389562.2_Missense_Mutation_p.P1799S|EP400_ENST00000330386.6_Missense_Mutation_p.P1719S|SNORA49_ENST00000386157.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	1836					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTTGTGATTCCTCCGGTGGT	0.627																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(5506-5508)Cct>Tct		E1A binding protein p400							51.0	53.0	52.0					12																	132514262		2203	4293	6496	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132514262C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5506C>T	12.37:g.132514262C>T	ENSP00000333602:p.Pro1836Ser					EP400_ENST00000389561.2_Missense_Mutation_p.P1800S|EP400_ENST00000330386.6_Missense_Mutation_p.P1719S|EP400_ENST00000389562.2_Missense_Mutation_p.P1799S|EP400_ENST00000332482.4_Missense_Mutation_p.P1763S	p.P1836S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	29	5615	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1836					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.5506C>T		.	.	.	.	.	.	.	.	.	.	C	12.89	2.074729	0.36566	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.95656	-3.77;-3.72;-3.76;-3.77;-3.71	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.63843	1.955	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97551	1.0092	10	0.62326	D	0.03	.	19.6869	0.95982	0.0:1.0:0.0:0.0	.	1800;1719;1799	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	1836;1800;1799;1763;1719;1800;1719	ENSP00000333602:P1836S;ENSP00000374212:P1800S;ENSP00000374213:P1799S;ENSP00000331737:P1763S;ENSP00000330620:P1719S	ENSP00000330620:P1719S	P	+	1	0	EP400	131080215	1.000000	0.71417	0.947000	0.38551	0.156000	0.22039	7.444000	0.80532	2.638000	0.89438	0.557000	0.71058	CCT		0.627	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		26	82	0	0	0	1	0	26	82				
CCR9	10803	broad.mit.edu	37	3	45942754	45942754	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45942754G>A	ENST00000357632.2	+	3	654	c.474G>A	c.(472-474)agG>agA	p.R158R	CCR9_ENST00000395963.2_Silent_p.R146R|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.R146R|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	158					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATACTTGGAGGGAGAAAAGGC	0.468																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(472-474)agG>agA		chemokine (C-C motif) receptor 9							110.0	105.0	106.0					3																	45942754		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45942754G>A	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.474G>A	3.37:g.45942754G>A						LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R146R|CCR9_ENST00000355983.2_Silent_p.R146R	p.R158R	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	654	+			158					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.474G>A	CCDS2732.1																																																																																				0.468	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			25	31	0	0	0	1	0	25	31				
KLHL13	90293	broad.mit.edu	37	X	117106771	117106771	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:117106771C>T	ENST00000262820.3	-	1	930	c.21G>A	c.(19-21)acG>acA	p.T7T	KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000371878.1_Intron	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	7					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGGAGAGCTCGTTTTCCATT	0.413																																						ENST00000262820.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(19-21)acG>acA		kelch-like family member 13							159.0	123.0	135.0					X																	117106771		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117106771C>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.21G>A	X.37:g.117106771C>T						KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron	p.T7T	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN			1	930	-			7					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.21G>A	CCDS14571.1																																																																																				0.413	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		33	43	0	0	0	1	0	33	43				
SYCP2L	221711	broad.mit.edu	37	6	10928652	10928652	+	Missense_Mutation	SNP	C	C	T	rs183225088	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:10928652C>T	ENST00000283141.6	+	18	1753	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	486						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ccggtccctccgttcggggtc	0.473													C|||	8	0.00159744	0.0	0.0	5008	,	,		18784	0.0079		0.0	False		,,,				2504	0.0					ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1456-1458)cCg>cTg		synaptonemal complex protein 2-like		C	LEU/PRO	1,3725		0,1,1862	67.0	70.0	69.0		1457	0.1	0.1	6		69	0,8190		0,0,4095	no	missense	SYCP2L	NM_001040274.2	98	0,1,5957	TT,TC,CC		0.0,0.0268,0.0084	benign	486/813	10928652	1,11915	1863	4095	5958	SO:0001583	missense	221711					nucleus		g.chr6:10928652C>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1457C>T	6.37:g.10928652C>T	ENSP00000283141:p.Pro486Leu					RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	p.P486L	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		18	1753	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	486					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.1457C>T	CCDS43423.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.004	-2.294482	0.00245	2.68E-4	0.0	ENSG00000153157	ENST00000283141	T	0.17213	2.29	0.0465	0.0465	0.14256	.	24.761700	0.00953	U	0.002989	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33701	-0.9858	9	0.27082	T	0.32	.	.	.	.	.	486	Q5T4T6	SYC2L_HUMAN	L	486	ENSP00000283141:P486L	ENSP00000283141:P486L	P	+	2	0	SYCP2L	11036638	0.071000	0.21146	0.052000	0.19188	0.056000	0.15407	0.145000	0.16157	0.132000	0.18615	0.134000	0.15878	CCG		0.473	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		22	8	0	0	0	1	0	22	8				
MAGED1	9500	broad.mit.edu	37	X	51638490	51638490	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:51638490C>T	ENST00000375722.1	+	3	639	c.387C>T	c.(385-387)tcC>tcT	p.S129S	MAGED1_ENST00000326587.7_Silent_p.S129S|MAGED1_ENST00000375695.2_Silent_p.S185S|MAGED1_ENST00000375772.3_Silent_p.S129S|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	129					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATGATTTTTCCCAGGCAGCAA	0.507										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(553-555)tcC>tcT		melanoma antigen family D, 1							42.0	38.0	39.0					X																	51638490		2203	4298	6501	SO:0001819	synonymous_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51638490C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.387C>T	X.37:g.51638490C>T		Multiple Myeloma(10;0.10)				MAGED1_ENST00000326587.7_Silent_p.S129S|MAGED1_ENST00000375722.1_Silent_p.S129S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.S129S	p.S185S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			4	708	+	Ovarian(276;0.236)		129					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	ENST00000375722.1	37	c.555C>T	CCDS14337.1																																																																																				0.507	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		9	11	0	0	0	1	0	9	11				
RBM15	64783	broad.mit.edu	37	1	110883456	110883456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:110883456C>T	ENST00000369784.3	+	1	2329	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	RBM15_ENST00000487146.2_Nonsense_Mutation_p.R477*|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Nonsense_Mutation_p.R477*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	477	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAATTTGATCGATTTGGCAC	0.517			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(1429-1431)Cga>Tga		RNA binding motif protein 15							77.0	78.0	78.0					1																	110883456		2203	4300	6503	SO:0001587	stop_gained	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110883456C>T	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1429C>T	1.37:g.110883456C>T	ENSP00000358799:p.Arg477*					RBM15_ENST00000602849.1_Nonsense_Mutation_p.R477*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R477*	p.R477*	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	2329	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	477			RRM 3.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	37	c.1429C>T	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.288886	0.99654	.	.	ENSG00000162775	ENST00000369784	.	.	.	4.94	4.02	0.46733	.	0.000000	0.39210	N	0.001437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3375	12.5951	0.56465	0.3021:0.6979:0.0:0.0	.	.	.	.	X	477	.	ENSP00000358799:R477X	R	+	1	2	RBM15	110684979	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.386000	0.59620	1.290000	0.44636	0.655000	0.94253	CGA		0.517	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		45	43	0	0	0	1	0	45	43				
TRPM2	7226	broad.mit.edu	37	21	45819234	45819234	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:45819234C>T	ENST00000397928.1	+	14	2563	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	TRPM2_ENST00000397932.2_Silent_p.T706T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.T706T|TRPM2_ENST00000300481.9_Silent_p.T686T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	706					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AACTGCTCACCCGCGTGTCCG	0.627																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(2116-2118)acC>acT		transient receptor potential cation channel, subfamily M, member 2							66.0	64.0	65.0					21																	45819234		2203	4299	6502	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45819234C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2118C>T	21.37:g.45819234C>T						TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.T706T|TRPM2_ENST00000300481.9_Silent_p.T686T|TRPM2_ENST00000300482.5_Silent_p.T706T	p.T706T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			14	2563	+			706					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2118C>T	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		34	18	0	0	0	1	0	34	18				
PMS1	5378	broad.mit.edu	37	2	190719164	190719164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:190719164C>T	ENST00000441310.2	+	9	1399	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	PMS1_ENST00000447232.2_Missense_Mutation_p.P389L|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.P213L|PMS1_ENST00000432292.3_Missense_Mutation_p.P213L|PMS1_ENST00000409823.3_Missense_Mutation_p.P350L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	389					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)			TCAGTCATTCCATTCCAAAAT	0.323			"""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.(1165-1167)cCa>cTa	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							83.0	87.0	86.0					2																	190719164		2203	4298	6501	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719164C>T		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.1166C>T	2.37:g.190719164C>T	ENSP00000406490:p.Pro389Leu					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.P213L|PMS1_ENST00000409823.3_Missense_Mutation_p.P350L|PMS1_ENST00000418224.3_Missense_Mutation_p.P213L|PMS1_ENST00000447232.2_Missense_Mutation_p.P389L	p.P389L	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)		9	1399	+			389					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1166C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	3.112	-0.182366	0.06340	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.96168	-2.24;-1.92;-2.42;-2.76;-1.92;-2.07;-3.93	5.29	3.49	0.39957	.	0.707625	0.14418	N	0.320872	D	0.90477	0.7017	N	0.22421	0.69	0.36249	D	0.853796	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.0;0.001	D	0.87050	0.2146	10	0.46703	T	0.11	-0.0984	10.719	0.46030	0.1311:0.8002:0.0:0.0686	.	389;350;350;174;350;389;389	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	L	213;389;213;350;389;213;328;174	ENSP00000406490:P389L;ENSP00000404492:P213L;ENSP00000387125:P350L;ENSP00000401064:P389L;ENSP00000398378:P213L;ENSP00000389938:P328L;ENSP00000387169:P174L	ENSP00000376149:P213L	P	+	2	0	PMS1	190427409	0.001000	0.12720	0.396000	0.26296	0.020000	0.10135	-0.083000	0.11286	0.791000	0.33826	-0.252000	0.11476	CCA		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			35	45	0	0	0	1	0	35	45				
FPR1	2357	broad.mit.edu	37	19	52250210	52250210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52250210C>T	ENST00000595042.1	-	3	179	c.38G>A	c.(37-39)gGa>gAa	p.G13E	FPR1_ENST00000304748.4_Missense_Mutation_p.G13E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	13					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGGTGTCCCTCCAGAGATGTT	0.498																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(37-39)gGa>gAa		formyl peptide receptor 1	Nedocromil(DB00716)						63.0	59.0	60.0					19																	52250210		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250210C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.38G>A	19.37:g.52250210C>T	ENSP00000471493:p.Gly13Glu					FPR1_ENST00000304748.4_Missense_Mutation_p.G13E	p.G13E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	179	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	13					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.38G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.523682	0.00959	.	.	ENSG00000171051	ENST00000304748	T	0.28454	1.61	3.62	-1.93	0.07594	.	1.479250	0.04439	N	0.370575	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27502	-1.0072	10	0.02654	T	1	.	7.8365	0.29374	0.0:0.3569:0.5325:0.1107	.	13	P21462	FPR1_HUMAN	E	13	ENSP00000302707:G13E	ENSP00000302707:G13E	G	-	2	0	FPR1	56942022	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	0.136000	0.15974	-0.338000	0.08413	-0.175000	0.13238	GGA		0.498	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		15	12	0	0	0	1	0	15	12				
FAT4	79633	broad.mit.edu	37	4	126240238	126240238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:126240238C>T	ENST00000394329.3	+	1	2685	c.2672C>T	c.(2671-2673)cCc>cTc	p.P891L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	891	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACAACTCTCCCCATTTCCTT	0.478																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(2671-2673)cCc>cTc		FAT atypical cadherin 4							45.0	45.0	45.0					4																	126240238		1951	4163	6114	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126240238C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.2672C>T	4.37:g.126240238C>T	ENSP00000377862:p.Pro891Leu						p.P891L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	2685	+			891			Cadherin 8.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.2672C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036831	0.75617	.	.	ENSG00000196159	ENST00000394329	D	0.84800	-1.9	5.37	5.37	0.77165	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34314	U	0.004063	D	0.96327	0.8802	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98348	1.0542	10	0.87932	D	0	.	19.1285	0.93396	0.0:1.0:0.0:0.0	.	891	Q6V0I7	FAT4_HUMAN	L	891	ENSP00000377862:P891L	ENSP00000377862:P891L	P	+	2	0	FAT4	126459688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.512000	0.84698	0.655000	0.94253	CCC		0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	25	0	0	0	1	0	8	25				
PCDH10	57575	broad.mit.edu	37	4	134072073	134072073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:134072073C>T	ENST00000264360.5	+	1	1604	c.778C>T	c.(778-780)Cca>Tca	p.P260S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGTGTCCCTACCAGAGAACTC	0.617																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(778-780)Cca>Tca		protocadherin 10							91.0	88.0	89.0					4																	134072073		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072073C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.778C>T	4.37:g.134072073C>T	ENSP00000264360:p.Pro260Ser						p.P260S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1604	+			260			Cadherin 3.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.778C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	5.152	0.213581	0.09757	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52983	0.64	4.38	4.38	0.52667	Cadherin (4);Cadherin-like (1);	0.000000	0.43579	D	0.000549	T	0.35941	0.0949	N	0.26042	0.785	0.38078	D	0.936578	B;B	0.14438	0.01;0.002	B;B	0.17433	0.018;0.01	T	0.21861	-1.0233	10	0.19590	T	0.45	.	16.7863	0.85575	0.0:1.0:0.0:0.0	.	260;260	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	260	ENSP00000264360:P260S	ENSP00000264360:P260S	P	+	1	0	PCDH10	134291523	0.378000	0.25114	0.913000	0.36048	0.949000	0.60115	2.183000	0.42565	2.254000	0.74563	0.505000	0.49811	CCA		0.617	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	63	0	0	0	1	0	12	63				
AACS	65985	broad.mit.edu	37	12	125587578	125587578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125587578C>T	ENST00000316519.6	+	7	924	c.718C>T	c.(718-720)Cct>Tct	p.P240S	AACS_ENST00000261686.6_Missense_Mutation_p.P240S|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	240					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GGTGGTGATTCCTTATGTGTC	0.473																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(718-720)Cct>Tct		acetoacetyl-CoA synthetase							183.0	188.0	186.0					12																	125587578		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125587578C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.718C>T	12.37:g.125587578C>T	ENSP00000324842:p.Pro240Ser					AACS_ENST00000261686.6_Missense_Mutation_p.P240S	p.P240S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	7	924	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		240					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.718C>T	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830044	0.71258	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477;ENST00000537564;ENST00000441247	T;T;T;T;T	0.47869	2.94;2.94;0.83;2.94;1.14	5.5	5.5	0.81552	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	M	0.67953	2.075	0.80722	D	1	D;D	0.62365	0.991;0.986	P;P	0.58130	0.833;0.822	T	0.65747	-0.6093	10	0.54805	T	0.06	.	19.0178	0.92901	0.0:1.0:0.0:0.0	.	240;240	Q86V21-2;Q86V21	.;AACS_HUMAN	S	240;240;96;71;21;59	ENSP00000324842:P240S;ENSP00000261686:P240S;ENSP00000439931:P71S;ENSP00000442956:P21S;ENSP00000392967:P59S	ENSP00000261686:P240S	P	+	1	0	AACS	124153531	1.000000	0.71417	0.489000	0.27452	0.398000	0.30690	5.120000	0.64685	2.573000	0.86826	0.555000	0.69702	CCT		0.473	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		49	203	0	0	0	1	0	49	203				
CLEC4G	339390	broad.mit.edu	37	19	7795971	7795971	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:7795971G>A	ENST00000328853.5	-	4	292	c.224C>T	c.(223-225)tCg>tTg	p.S75L	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	75						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCTGCTTCGAGGCTGGAAC	0.697																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(223-225)tCg>tTg		C-type lectin domain family 4, member G							17.0	20.0	19.0					19																	7795971		2199	4290	6489	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7795971G>A	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.224C>T	19.37:g.7795971G>A	ENSP00000327599:p.Ser75Leu					CLEC4G_ENST00000598081.1_5'UTR	p.S75L	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			4	292	-			75						Missense_Mutation	SNP	ENST00000328853.5	37	c.224C>T	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.213597	0.39102	.	.	ENSG00000182566	ENST00000328853	T	0.01126	5.3	3.61	2.54	0.30619	.	0.000000	0.29172	N	0.012927	T	0.01287	0.0042	L	0.36672	1.1	0.21652	N	0.999601	D	0.56521	0.976	B	0.42738	0.396	T	0.52726	-0.8537	10	0.87932	D	0	.	8.3405	0.32241	0.0:0.0:0.7647:0.2353	.	75	Q6UXB4	CLC4G_HUMAN	L	75	ENSP00000327599:S75L	ENSP00000327599:S75L	S	-	2	0	CLEC4G	7701971	0.820000	0.29190	0.309000	0.25155	0.002000	0.02628	2.075000	0.41538	0.824000	0.34613	-0.324000	0.08512	TCG		0.697	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		10	5	0	0	0	1	0	10	5				
DSCAML1	57453	broad.mit.edu	37	11	117395755	117395755	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:117395755G>A	ENST00000321322.6	-	5	883	c.882C>T	c.(880-882)tcC>tcT	p.S294S	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	234	Ig-like C2-type 3.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACACTTCCTGGGAGTGGAAGC	0.697																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(880-882)tcC>tcT		Down syndrome cell adhesion molecule like 1							14.0	12.0	13.0					11																	117395755		2184	4280	6464	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117395755G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.882C>T	11.37:g.117395755G>A						DSCAML1_ENST00000527706.1_Intron	p.S294S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	5	883	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	234			Ig-like C2-type 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.882C>T	CCDS8384.1																																																																																				0.697	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	8	0	0	0	1	0	6	8				
RIC8B	55188	broad.mit.edu	37	12	107208848	107208848	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:107208848C>T	ENST00000392839.2	+	3	613	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Silent_p.F129F|RIC8B_ENST00000392837.4_Silent_p.F169F	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	169					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GCTTGCTCTTCCTTCTGTCAC	0.463																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(505-507)ttC>ttT		RIC8 guanine nucleotide exchange factor B							145.0	132.0	136.0					12																	107208848		2203	4300	6503	SO:0001819	synonymous_variant	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208848C>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.507C>T	12.37:g.107208848C>T						RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.F169F|RIC8B_ENST00000355478.2_Silent_p.F129F	p.F169F			Q9NVN3	RIC8B_HUMAN			3	658	+			169					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Silent	SNP	ENST00000392839.2	37	c.507C>T	CCDS9109.2																																																																																				0.463	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		48	116	0	0	0	1	0	48	116				
LHFPL2	10184	broad.mit.edu	37	5	77805826	77805826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:77805826G>A	ENST00000515007.2	-	2	521	c.211C>T	c.(211-213)Cca>Tca	p.P71S	LHFPL2_ENST00000380345.2_Missense_Mutation_p.P71S			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	71						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TGCACCCCTGGGTTCCGGATG	0.726																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(211-213)Cca>Tca		lipoma HMGIC fusion partner-like 2							15.0	17.0	16.0					5																	77805826		2200	4299	6499	SO:0001583	missense	10184					integral to membrane		g.chr5:77805826G>A	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.211C>T	5.37:g.77805826G>A	ENSP00000425906:p.Pro71Ser					LHFPL2_ENST00000515007.2_Missense_Mutation_p.P71S	p.P71S	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	886	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	71					B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	c.211C>T	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	6.381	0.438332	0.12104	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.71222	-0.55;-0.55	5.52	4.46	0.54185	.	0.348573	0.32624	N	0.005852	T	0.54711	0.1875	L	0.35341	1.055	0.44995	D	0.998019	B	0.10296	0.003	B	0.12837	0.008	T	0.46527	-0.9185	10	0.09590	T	0.72	-30.6687	10.789	0.46422	0.1339:0.0:0.8661:0.0	.	71	Q6ZUX7	LHPL2_HUMAN	S	71	ENSP00000369702:P71S;ENSP00000425906:P71S	ENSP00000369702:P71S	P	-	1	0	LHFPL2	77841582	1.000000	0.71417	0.999000	0.59377	0.539000	0.34962	1.937000	0.40193	2.600000	0.87896	0.655000	0.94253	CCA		0.726	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		12	10	0	0	0	1	0	12	10				
JMJD8	339123	broad.mit.edu	37	16	731314	731314	+	IGR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:731314G>A	ENST00000293882.4	-	0	2123				LA16c-313D11.9_ENST00000571933.1_RNA|STUB1_ENST00000219548.4_Missense_Mutation_p.E108K|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000564370.1_Missense_Mutation_p.E36K|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000565677.1_Missense_Mutation_p.E36K			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						GCTGGAGATGGAGAGCTATGA	0.672																																						ENST00000565677.1																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(106-108)Gag>Aag		STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase							46.0	44.0	45.0					16																	731314		2197	4297	6494	SO:0001628	intergenic_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731314G>A		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731314G>A						STUB1_ENST00000219548.4_Missense_Mutation_p.E108K|STUB1_ENST00000564370.1_Missense_Mutation_p.E36K|STUB1_ENST00000566181.2_3'UTR	p.E36K			Q9UNE7	CHIP_HUMAN			2	713	+		Hepatocellular(780;0.00335)	108					B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	ENST00000293882.4	37	c.106G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.113198	0.77210	.	.	ENSG00000103266	ENST00000219548	T	0.61274	0.12	4.82	4.82	0.62117	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	L	0.43923	1.385	0.80722	D	1	P	0.38863	0.65	P	0.44990	0.466	T	0.49624	-0.8920	10	0.12430	T	0.62	-31.0881	16.907	0.86131	0.0:0.0:1.0:0.0	.	108	Q9UNE7	CHIP_HUMAN	K	108	ENSP00000219548:E108K	ENSP00000219548:E108K	E	+	1	0	STUB1	671315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.448000	0.97600	2.218000	0.71995	0.561000	0.74099	GAG		0.672	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		12	38	0	0	0	1	0	12	38				
PCDHGB6	56100	broad.mit.edu	37	5	140788355	140788355	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140788355C>G	ENST00000520790.1	+	1	586	c.586C>G	c.(586-588)Ctg>Gtg	p.L196V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTTATCTCTGGAGAAACT	0.403																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(586-588)Ctg>Gtg									27.0	27.0	27.0					5																	140788355		1836	4089	5925	SO:0001583	missense	56100							g.chr5:140788355C>G	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.586C>G	5.37:g.140788355C>G	ENSP00000428603:p.Leu196Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.L196V	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	586	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.586C>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	c	12.77	2.038403	0.35989	.	.	ENSG00000253305	ENST00000520790	T	0.49432	0.78	5.22	1.01	0.19927	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47783	0.1464	M	0.68317	2.08	0.09310	N	1	P;P	0.44195	0.722;0.828	P;B	0.45946	0.498;0.401	T	0.39921	-0.9590	9	0.66056	D	0.02	.	5.5928	0.17311	0.0:0.4285:0.1559:0.4156	.	196;196	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	V	196	ENSP00000428603:L196V	ENSP00000428603:L196V	L	+	1	2	PCDHGB6	140768539	0.000000	0.05858	0.900000	0.35374	0.982000	0.71751	-1.059000	0.03479	0.463000	0.27118	0.467000	0.42956	CTG		0.403	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		7	14	0	0	0	1	0	7	14				
CRTAC1	55118	broad.mit.edu	37	10	99655718	99655718	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99655718C>T	ENST00000370597.3	-	10	1596	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	CRTAC1_ENST00000298819.4_Missense_Mutation_p.G414E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G414E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	414						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCCCGTCTCCGTCGAAGTC	0.582																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1240-1242)gGa>gAa		cartilage acidic protein 1							144.0	121.0	128.0					10																	99655718		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655718C>T	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1241G>A	10.37:g.99655718C>T	ENSP00000359629:p.Gly414Glu					CRTAC1_ENST00000298819.4_Missense_Mutation_p.G414E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G414E	p.G414E	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	10	1596	-		Colorectal(252;0.24)	414					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1241G>A	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567034	0.86439	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.17	4.26	0.50523	.	0.126603	0.56097	D	0.000032	T	0.58380	0.2118	M	0.85859	2.78	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.973;0.96;0.981	T	0.65635	-0.6120	10	0.72032	D	0.01	-0.836	13.5814	0.61905	0.0:0.9246:0.0:0.0754	.	414;414;310	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	E	310;414;414;406;414	ENSP00000408445:G310E;ENSP00000359629:G414E;ENSP00000298819:G414E;ENSP00000310810:G406E;ENSP00000359623:G414E	ENSP00000298819:G414E	G	-	2	0	CRTAC1	99645708	1.000000	0.71417	0.988000	0.46212	0.937000	0.57800	4.868000	0.63021	1.142000	0.42291	0.655000	0.94253	GGA		0.582	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		16	35	0	0	0	1	0	16	35				
MUC16	94025	broad.mit.edu	37	19	9089073	9089073	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9089073G>A	ENST00000397910.4	-	1	2945	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	914	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTAGGTGGGATGAAGAGA	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2740-2742)tcC>tcT		mucin 16, cell surface associated							91.0	93.0	92.0					19																	9089073		1995	4171	6166	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089073G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2742C>T	19.37:g.9089073G>A							p.S914S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2945	-			914			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2742C>T	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	1	0	0	0	1	0	10	1				
RBM26	64062	broad.mit.edu	37	13	79951531	79951531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:79951531C>T	ENST00000438737.2	-	3	750	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RBM26_ENST00000438724.1_Missense_Mutation_p.D104N|RBM26_ENST00000267229.7_Missense_Mutation_p.D104N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	104					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTCTTTATATCTTTTTCTTGG	0.343																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(310-312)Gat>Aat		RNA binding motif protein 26							120.0	119.0	119.0					13																	79951531		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79951531C>T	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.310G>A	13.37:g.79951531C>T	ENSP00000387531:p.Asp104Asn					RBM26_ENST00000438724.1_Missense_Mutation_p.D104N|RBM26_ENST00000267229.7_Missense_Mutation_p.D104N	p.D104N			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	3	750	-		Acute lymphoblastic leukemia(28;0.0279)	104					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.310G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.449351	0.84101	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.42131	0.98;0.98	6.16	6.16	0.99307	.	0.048403	0.85682	D	0.000000	T	0.27900	0.0687	N	0.08118	0	0.80722	D	1	P;B;B;B	0.43352	0.804;0.275;0.319;0.275	B;B;B;B	0.39027	0.288;0.051;0.071;0.051	T	0.05370	-1.0889	9	.	.	.	-21.2243	20.8598	0.99761	0.0:1.0:0.0:0.0	.	104;104;104;104	Q5T8P6-6;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	N	104;105;104;104	ENSP00000267229:D104N;ENSP00000390222:D104N	.	D	-	1	0	RBM26	78849532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.264000	0.78432	2.937000	0.99478	0.650000	0.86243	GAT		0.343	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		14	25	0	0	0	1	0	14	25				
PADI3	51702	broad.mit.edu	37	1	17607202	17607202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17607202G>A	ENST00000375460.3	+	15	1712	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	558					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGAAGCGGGAGCTGGGCCT	0.592																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1672-1674)Gag>Aag		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						108.0	105.0	106.0					1																	17607202		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17607202G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1672G>A	1.37:g.17607202G>A	ENSP00000364609:p.Glu558Lys						p.E558K	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	15	1712	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	558					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.1672G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522640	0.64747	.	.	ENSG00000142619	ENST00000375460	T	0.29917	1.55	4.57	3.64	0.41730	Protein-arginine deiminase, C-terminal (1);	0.059475	0.64402	D	0.000003	T	0.53417	0.1795	M	0.87381	2.88	0.46586	D	0.999114	D	0.57899	0.981	P	0.56514	0.8	T	0.63042	-0.6725	10	0.59425	D	0.04	-34.9103	13.5617	0.61793	0.0:0.1576:0.8424:0.0	.	558	Q9ULW8	PADI3_HUMAN	K	558	ENSP00000364609:E558K	ENSP00000364609:E558K	E	+	1	0	PADI3	17479789	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	4.400000	0.59709	1.045000	0.40225	-0.499000	0.04595	GAG		0.592	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			26	72	0	0	0	1	0	26	72				
TENC1	23371	broad.mit.edu	37	12	53453558	53453558	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53453558G>A	ENST00000314250.6	+	18	2423	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	TENC1_ENST00000314276.3_Silent_p.R721R|TENC1_ENST00000549700.1_Silent_p.R711R|TENC1_ENST00000552570.1_Silent_p.R711R|TENC1_ENST00000451358.1_Silent_p.R701R|TENC1_ENST00000379902.3_Silent_p.R587R|TENC1_ENST00000546602.1_Silent_p.R711R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	711					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCTGGAGAGGGAGGCTGGAG	0.667																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(2131-2133)agG>agA		tensin like C1 domain containing phosphatase (tensin 2)							35.0	31.0	33.0					12																	53453558		2196	4284	6480	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53453558G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2133G>A	12.37:g.53453558G>A						TENC1_ENST00000451358.1_Silent_p.R701R|TENC1_ENST00000552570.1_Silent_p.R711R|TENC1_ENST00000314276.3_Silent_p.R721R|TENC1_ENST00000546602.1_Silent_p.R711R|TENC1_ENST00000379902.3_Silent_p.R587R|TENC1_ENST00000549700.1_Silent_p.R711R	p.R711R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	2423	+			711					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.2133G>A	CCDS8843.1																																																																																				0.667	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		14	25	0	0	0	1	0	14	25				
NUP85	79902	broad.mit.edu	37	17	73230731	73230731	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73230731G>A	ENST00000245544.4	+	17	1686		c.e17-1		NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000447371.2_Splice_Site|NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TTTCGCCATAGGAAAGTATCG	0.517																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.e16-1		nucleoporin 85kDa							195.0	167.0	177.0					17																	73230731		2203	4300	6503	SO:0001630	splice_region_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73230731G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1616-1G>A	17.37:g.73230731G>A						NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000245544.4_Splice_Site				Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		16	1535	+	all_lung(278;0.14)|Lung NSC(278;0.168)							B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Splice_Site	SNP	ENST00000245544.4	37		CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974691	0.34848	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0591	0.97667	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP85	70742326	1.000000	0.71417	0.989000	0.46669	0.076000	0.17211	9.201000	0.95017	2.753000	0.94483	0.455000	0.32223	.		0.517	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844	Intron	44	98	0	0	0	1	0	44	98				
IKZF4	64375	broad.mit.edu	37	12	56428794	56428794	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56428794C>T	ENST00000262032.5	+	12	1804	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	IKZF4_ENST00000431367.2_Silent_p.P377P|IKZF4_ENST00000547791.1_Silent_p.P434P|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.P479P			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	479					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCCCCCACCCCAGCCACCTC	0.657																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1435-1437)ccC>ccT		IKAROS family zinc finger 4 (Eos)							20.0	22.0	22.0					12																	56428794		1855	4090	5945	SO:0001819	synonymous_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56428794C>T	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1437C>T	12.37:g.56428794C>T						RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P434P|IKZF4_ENST00000547167.1_Silent_p.P479P|IKZF4_ENST00000431367.2_Silent_p.P377P	p.P479P			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	1804	+			479					Q96JP3	Silent	SNP	ENST00000262032.5	37	c.1437C>T	CCDS44917.1																																																																																				0.657	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		10	16	0	0	0	1	0	10	16				
OR5A2	219981	broad.mit.edu	37	11	59189730	59189730	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59189730T>C	ENST00000302040.4	-	1	719	c.697A>G	c.(697-699)Aca>Gca	p.T233A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTCCTACCTGTAGCTGAGCTG	0.483																																						ENST00000302040.4																			0				large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Aca>Gca		olfactory receptor, family 5, subfamily A, member 2							107.0	97.0	101.0					11																	59189730		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189730T>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.697A>G	11.37:g.59189730T>C	ENSP00000303834:p.Thr233Ala						p.T233A	NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN			1	719	-			233					B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.697A>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812417	0.50527	.	.	ENSG00000172324	ENST00000302040	T	0.00058	8.79	5.56	-7.0	0.01599	GPCR, rhodopsin-like superfamily (1);	0.441600	0.16051	U	0.231983	T	0.00073	0.0002	N	0.05441	-0.05	0.09310	N	1	B	0.12013	0.005	B	0.18263	0.021	T	0.39901	-0.9591	10	0.62326	D	0.03	.	9.0519	0.36380	0.0:0.3396:0.4471:0.2133	.	233	Q8NGI9	OR5A2_HUMAN	A	233	ENSP00000303834:T233A	ENSP00000303834:T233A	T	-	1	0	OR5A2	58946306	0.000000	0.05858	0.000000	0.03702	0.677000	0.39632	-2.585000	0.00903	-1.562000	0.01682	-0.297000	0.09499	ACA		0.483	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		12	30	0	0	0	1	0	12	30				
PSG2	5670	broad.mit.edu	37	19	43579507	43579507	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43579507G>A	ENST00000406487.1	-	3	806	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	236					cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GATACTCACGGAGGAGATTCA	0.527																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.e3+1		pregnancy specific beta-1-glycoprotein 2							194.0	207.0	202.0					19																	43579507		2202	4299	6501	SO:0001630	splice_region_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579507G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.709+1C>T	19.37:g.43579507G>A							p.L236_splice	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			3	806	-		Prostate(69;0.00682)	236					Q8TCD9|Q9UEA4|Q9UQ78	Splice_Site	SNP	ENST00000406487.1	37	c.709_splice	CCDS12616.1																																																																																				0.527	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246	Silent	112	208	0	0	0	1	0	112	208				
KIAA2018	205717	broad.mit.edu	37	3	113377932	113377932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113377932G>A	ENST00000478658.1	-	5	2614	c.2597C>T	c.(2596-2598)tCt>tTt	p.S866F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S866F			Q68DE3	K2018_HUMAN	KIAA2018	866	Ser-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACACCCAAAGAATGTGAAGC	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(2596-2598)tCt>tTt		KIAA2018							104.0	100.0	101.0					3																	113377932		1983	4180	6163	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377932G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2597C>T	3.37:g.113377932G>A	ENSP00000420721:p.Ser866Phe					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S866F	p.S866F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	3007	-			866			Ser-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.2597C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599871	0.28534	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16324	2.35;2.35	5.2	5.2	0.72013	.	0.587351	0.16828	N	0.197853	T	0.15869	0.0382	N	0.24115	0.695	0.19775	N	0.999953	B	0.34015	0.435	B	0.39465	0.3	T	0.18650	-1.0330	10	0.87932	D	0	-4.6572	12.133	0.53955	0.0786:0.0:0.9214:0.0	.	866	Q68DE3	K2018_HUMAN	F	866	ENSP00000320794:S866F;ENSP00000420721:S866F	ENSP00000320794:S866F	S	-	2	0	KIAA2018	114860622	1.000000	0.71417	0.819000	0.32651	0.589000	0.36550	4.955000	0.63638	2.418000	0.82041	0.650000	0.86243	TCT		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		25	40	0	0	0	1	0	25	40				
GHSR	2693	broad.mit.edu	37	3	172165499	172165499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:172165499G>A	ENST00000241256.2	-	1	747	c.705C>T	c.(703-705)atC>atT	p.I235I	GHSR_ENST00000427970.1_Silent_p.I235I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	235					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCTTCCTGCCGATGAGACTGT	0.592																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(703-705)atC>atT		growth hormone secretagogue receptor							59.0	52.0	54.0					3																	172165499		2201	4298	6499	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165499G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.705C>T	3.37:g.172165499G>A						GHSR_ENST00000427970.1_Silent_p.I235I	p.I235I	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	747	-	Ovarian(172;0.00143)|Breast(254;0.197)		235					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.705C>T	CCDS3218.1																																																																																				0.592	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122		27	27	0	0	0	1	0	27	27				
CSMD1	64478	broad.mit.edu	37	8	2975987	2975987	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:2975987G>T	ENST00000520002.1	-	43	6922	c.6367C>A	c.(6367-6369)Cat>Aat	p.H2123N	CSMD1_ENST00000602557.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2123N|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2122N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2123	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGACAGGATGGCCTATTAGA	0.453																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(6367-6369)Cat>Aat		CUB and Sushi multiple domains 1							143.0	141.0	142.0					8																	2975987		2017	4181	6198	SO:0001583	missense	64478					integral to membrane		g.chr8:2975987G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6367C>A	8.37:g.2975987G>T	ENSP00000430733:p.His2123Asn					CSMD1_ENST00000602723.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2123N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2122N	p.H2123N			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6922	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2123			Sushi 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.6367C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.320|1.320	-0.599726|-0.599726	0.03744|0.03744	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01|.	4.85|4.85	3.98|3.98	0.46160|0.46160	Complement control module (2);Sushi/SCR/CCP (3);|.	0.065598|.	0.64402|.	D|.	0.000011|.	T|T	0.38825|0.38825	0.1055|0.1055	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	P;B;B|.	0.40302|.	0.712;0.014;0.12|.	B;B;B|.	0.42738|.	0.396;0.155;0.138|.	T|T	0.13469|0.13469	-1.0508|-1.0508	10|5	0.30078|.	T|.	0.28|.	.|.	9.3173|9.3173	0.37941|0.37941	0.0774:0.1439:0.7787:0.0|0.0774:0.1439:0.7787:0.0	.|.	2123;2123;2122|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	N|Q	2123;2123;1984;2122;2122|1602	ENSP00000383047:H2123N;ENSP00000430733:H2123N;ENSP00000441462:H2122N;ENSP00000446243:H2122N|.	ENSP00000320445:H1984N|.	H|P	-|-	1|2	0|0	CSMD1|CSMD1	2963394|2963394	1.000000|1.000000	0.71417|0.71417	0.405000|0.405000	0.26409|0.26409	0.024000|0.024000	0.10985|0.10985	5.250000|5.250000	0.65432|0.65432	1.156000|1.156000	0.42514|0.42514	-0.244000|-0.244000	0.11960|0.11960	CAT|CCA		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		23	38	1	0	7.92952e-12	1	8.02318e-12	23	38				
FRMPD2	143162	broad.mit.edu	37	10	49376703	49376703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49376703C>T	ENST00000374201.3	-	27	3774	c.3472G>A	c.(3472-3474)Gaa>Aaa	p.E1158K	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K|FRMPD2_ENST00000463706.1_5'UTR	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1158	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGCGTGACTTCCTGTGGGGCC	0.567																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(3472-3474)Gaa>Aaa		FERM and PDZ domain containing 2							48.0	51.0	50.0					10																	49376703		2035	3291	5326	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49376703C>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.3472G>A	10.37:g.49376703C>T	ENSP00000363317:p.Glu1158Lys					FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K	p.E1158K	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	27	3774	-			1158			PDZ 3.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.3472G>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990498	0.54041	.	.	ENSG00000170324	ENST00000474573;ENST00000374201;ENST00000305531;ENST00000407470	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	3.53	2.61	0.31194	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.29976	0.0750	L	0.28458	0.855	0.25806	N	0.984452	B;P;D;B;P	0.55172	0.268;0.577;0.97;0.433;0.582	B;B;P;B;P	0.58210	0.328;0.281;0.835;0.172;0.477	T	0.05289	-1.0894	9	0.44086	T	0.13	.	8.5969	0.33721	0.0:0.8794:0.0:0.1206	.	110;1133;1158;1126;169	Q68DX3-5;Q68DX3-2;Q68DX3;F8WCT2;Q68DX3-4	.;.;FRPD2_HUMAN;.;.	K	110;1158;1133;1126	ENSP00000422446:E110K;ENSP00000363317:E1158K;ENSP00000307079:E1133K;ENSP00000384339:E1126K	ENSP00000307079:E1133K	E	-	1	0	FRMPD2	49046709	0.973000	0.33851	0.951000	0.38953	0.980000	0.70556	1.858000	0.39408	1.998000	0.58463	0.454000	0.30748	GAA		0.567	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		58	13	0	0	0	1	0	58	13				
PRAMEF2	65122	broad.mit.edu	37	1	12919596	12919596	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:12919596C>T	ENST00000240189.2	+	3	423	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	112					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGAATTTCTGGGCCAGAT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(334-336)ttC>ttT		PRAME family member 2							102.0	124.0	117.0					1																	12919596		2201	4293	6494	SO:0001819	synonymous_variant	65122							g.chr1:12919596C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.336C>T	1.37:g.12919596C>T							p.F112F	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	423	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	112						Silent	SNP	ENST00000240189.2	37	c.336C>T	CCDS149.1																																																																																				0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		39	37	0	0	0	1	0	39	37				
TIE1	7075	broad.mit.edu	37	1	43774666	43774666	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43774666C>T	ENST00000372476.3	+	8	1131	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	351					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCGGATCCCCCAGATCCTC	0.602																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1051-1053)cCc>cTc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							76.0	64.0	68.0					1																	43774666		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774666C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1052C>T	1.37:g.43774666C>T	ENSP00000361554:p.Pro351Leu					TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron	p.P351L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			8	1131	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	351					B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1052C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153391	0.94645	.	.	ENSG00000066056	ENST00000372476	T	0.49720	0.77	4.6	4.6	0.57074	Immunoglobulin-like fold (1);	0.000000	0.39909	N	0.001237	T	0.57755	0.2075	L	0.49778	1.585	0.80722	D	1	D;P;D	0.67145	0.961;0.688;0.996	P;B;P	0.55011	0.454;0.138;0.766	T	0.63413	-0.6643	10	0.87932	D	0	.	17.6413	0.88137	0.0:1.0:0.0:0.0	.	306;351;351	B4DTW8;B5A952;P35590	.;.;TIE1_HUMAN	L	351	ENSP00000361554:P351L	ENSP00000361554:P351L	P	+	2	0	TIE1	43547253	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.286000	0.78671	2.396000	0.81511	0.563000	0.77884	CCC		0.602	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	39	0	0	0	1	0	7	39				
NRK	203447	broad.mit.edu	37	X	105153194	105153194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:105153194C>T	ENST00000243300.9	+	13	1864	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	NRK_ENST00000428173.2_Nonsense_Mutation_p.Q522*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	521	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q521*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGAGGAATTTCAGGGTCAAGA	0.542										HNSCC(51;0.14)																												ENST00000428173.2																			1	Substitution - Nonsense(1)	p.Q521*(1)	breast(1)	breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(1564-1566)Cag>Tag		Nik related kinase							42.0	43.0	43.0					X																	105153194		1983	4141	6124	SO:0001587	stop_gained	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153194C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1561C>T	X.37:g.105153194C>T	ENSP00000434830:p.Gln521*	HNSCC(51;0.14)				NRK_ENST00000243300.9_Nonsense_Mutation_p.Q521*	p.Q522*			Q7Z2Y5	NRK_HUMAN			13	1867	+			521	G -> S (in Ref. 1; CAD98108).		Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37	c.1564C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.811171	0.97857	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.49	4.49	0.54785	.	0.142500	0.32952	N	0.005442	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.0168	0.64529	0.0:1.0:0.0:0.0	.	.	.	.	X	521;522	.	ENSP00000434830:Q521X	Q	+	1	0	NRK	105039850	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	3.018000	0.49625	2.481000	0.83766	0.600000	0.82982	CAG		0.542	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		19	38	0	0	0	1	0	19	38				
KCNA4	3739	broad.mit.edu	37	11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GCCCTGTCTTCCTCTTCTCTC	0.507																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(838-840)Gaa>Aaa		potassium voltage-gated channel, shaker-related subfamily, member 4							57.0	54.0	55.0					11																	30033388		1892	4120	6012	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033388C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.838G>A	11.37:g.30033388C>T	ENSP00000328511:p.Glu280Lys						p.E280K	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2071	-			280						Missense_Mutation	SNP	ENST00000328224.6	37	c.838G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523677	0.64747	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	5.16	5.16	0.70880	.	0.343652	0.30714	N	0.009023	D	0.96125	0.8737	M	0.70842	2.15	0.80722	D	1	B	0.27013	0.166	B	0.21151	0.033	D	0.94777	0.7950	10	0.54805	T	0.06	.	18.6691	0.91504	0.0:1.0:0.0:0.0	.	280	P22459	KCNA4_HUMAN	K	280	ENSP00000328511:E280K	ENSP00000328511:E280K	E	-	1	0	KCNA4	29989964	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.818000	0.86416	2.412000	0.81896	0.655000	0.94253	GAA		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		9	33	0	0	0	1	0	9	33				
GPR179	440435	broad.mit.edu	37	17	36482359	36482359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36482359C>T	ENST00000342292.4	-	11	7113	c.7093G>A	c.(7093-7095)Gat>Aat	p.D2365N	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2365					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TACTCCCAATCCCAAGGATAG	0.488																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(7093-7095)Gat>Aat		G protein-coupled receptor 179							65.0	59.0	61.0					17																	36482359		1900	4140	6040	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36482359C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.7093G>A	17.37:g.36482359C>T	ENSP00000345060:p.Asp2365Asn					GPR179_ENST00000584976.1_Intron	p.D2365N	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	7113	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	2365						Missense_Mutation	SNP	ENST00000342292.4	37	c.7093G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892295	0.72524	.	.	ENSG00000188888	ENST00000342292	T	0.62788	0.0	5.1	4.11	0.48088	.	0.162027	0.29280	N	0.012603	T	0.71517	0.3349	L	0.57536	1.79	0.35008	D	0.756644	D	0.69078	0.997	D	0.63597	0.916	T	0.79249	-0.1881	10	0.87932	D	0	-9.5138	11.2135	0.48813	0.0:0.9114:0.0:0.0886	.	2365	Q6PRD1	GP179_HUMAN	N	2365	ENSP00000345060:D2365N	ENSP00000345060:D2365N	D	-	1	0	GPR179	33735885	1.000000	0.71417	0.999000	0.59377	0.678000	0.39670	2.356000	0.44116	2.659000	0.90383	0.585000	0.79938	GAT		0.488	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			21	42	0	0	0	1	0	21	42				
PLD1	5337	broad.mit.edu	37	3	171395396	171395396	+	Silent	SNP	G	G	A	rs200255431		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:171395396G>A	ENST00000351298.4	-	17	2082	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000342215.6_Missense_Mutation_p.S543L	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	652	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.F652F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGAAGACGAAATTGCAGT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18957	0.001		0.0	False		,,,				2504	0.0				NSCLC(149;2174 3517 34058)	ENST00000342215.6																			1	Substitution - coding silent(1)	p.F652F(1)	large_intestine(1)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1627-1629)tCg>tTg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						196.0	171.0	180.0					3																	171395396		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171395396G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1956C>T	3.37:g.171395396G>A						PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000351298.4_Silent_p.F652F	p.S543L			Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		15	1743	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		0			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1628C>T	CCDS3216.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.97	2.989790	0.54041	.	.	ENSG00000075651	ENST00000342215	T	0.34275	1.37	6.16	-5.85	0.02311	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.25021	N	0.991339	.	.	.	.	.	.	T	0.32640	-0.9899	6	0.08599	T	0.76	-24.0753	16.5412	0.84385	0.4743:0.0:0.5257:0.0	.	.	.	.	L	543	ENSP00000339936:S543L	ENSP00000339936:S543L	S	-	2	0	PLD1	172878090	0.998000	0.40836	0.785000	0.31869	0.985000	0.73830	0.818000	0.27295	-1.353000	0.02191	-0.806000	0.03193	TCG		0.448	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		31	99	0	0	0	1	0	31	99				
MORN4	118812	broad.mit.edu	37	10	99376134	99376134	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376134G>A	ENST00000307450.6	-	5	490	c.327C>T	c.(325-327)atC>atT	p.I109I	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Silent_p.I167I|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	109										large_intestine(1)|lung(1)|stomach(2)	4						CATTGCGGGGGATTCCATGAG	0.502																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(499-501)atC>atT		MORN repeat containing 4							53.0	50.0	51.0					10																	99376134		2203	4300	6503	SO:0001819	synonymous_variant	118812							g.chr10:99376134G>A	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.327C>T	10.37:g.99376134G>A						PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.I109I|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	p.I167I			Q8NDC4	MORN4_HUMAN			4	500	-			109					Q86Y54	Silent	SNP	ENST00000307450.6	37	c.501C>T	CCDS7468.1																																																																																				0.502	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		16	38	0	0	0	1	0	16	38				
TSPYL5	85453	broad.mit.edu	37	8	98289703	98289703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:98289703C>T	ENST00000322128.3	-	1	473	c.370G>A	c.(370-372)Gga>Aga	p.G124R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	124					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCGCTGTTCCCACGAAGACA	0.721																																						ENST00000322128.3																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(370-372)Gga>Aga		TSPY-like 5							12.0	14.0	13.0					8																	98289703		2171	4231	6402	SO:0001583	missense	85453				cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	g.chr8:98289703C>T	AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.370G>A	8.37:g.98289703C>T	ENSP00000322802:p.Gly124Arg						p.G124R	NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN			1	473	-	Breast(36;2.56e-06)		124					B3KRF0|Q9C0B3	Missense_Mutation	SNP	ENST00000322128.3	37	c.370G>A	CCDS34927.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352640	0.82132	.	.	ENSG00000180543	ENST00000322128	T	0.16073	2.37	4.16	4.16	0.48862	.	0.000000	0.31949	N	0.006810	T	0.20495	0.0493	N	0.08118	0	0.30833	N	0.736466	D	0.89917	1.0	D	0.76575	0.988	T	0.04333	-1.0959	10	0.51188	T	0.08	-8.8431	12.2615	0.54652	0.0:1.0:0.0:0.0	.	124	Q86VY4	TSYL5_HUMAN	R	124	ENSP00000322802:G124R	ENSP00000322802:G124R	G	-	1	0	TSPYL5	98358879	0.045000	0.20229	1.000000	0.80357	0.969000	0.65631	0.831000	0.27476	2.589000	0.87451	0.650000	0.86243	GGA		0.721	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380611.1	NM_033512		10	27	0	0	0	1	0	10	27				
OR10Q1	219960	broad.mit.edu	37	11	57996128	57996128	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57996128C>T	ENST00000316770.2	-	1	262	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGCAGAGTTCCAGGAAAGAC	0.537																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(220-222)Gaa>Aaa		olfactory receptor, family 10, subfamily Q, member 1							91.0	89.0	90.0					11																	57996128		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57996128C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.220G>A	11.37:g.57996128C>T	ENSP00000314324:p.Glu74Lys						p.E74K	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	262	-		Breast(21;0.0589)	74					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.220G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492097	0.44352	.	.	ENSG00000180475	ENST00000316770	T	0.00444	7.4	4.54	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000533	T	0.01387	0.0045	M	0.91354	3.2	0.20307	N	0.999914	D	0.89917	1.0	D	0.85130	0.997	T	0.17319	-1.0373	10	0.87932	D	0	.	9.8708	0.41172	0.0:0.8344:0.0:0.1656	.	74	Q8NGQ4	O10Q1_HUMAN	K	74	ENSP00000314324:E74K	ENSP00000314324:E74K	E	-	1	0	OR10Q1	57752704	0.998000	0.40836	0.827000	0.32855	0.093000	0.18481	3.810000	0.55613	0.533000	0.28675	0.557000	0.71058	GAA		0.537	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		25	53	0	0	0	1	0	25	53				
TMEM202	338949	broad.mit.edu	37	15	72691193	72691193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:72691193G>A	ENST00000341689.3	+	2	335	c.281G>A	c.(280-282)gGa>gAa	p.G94E	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	94						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTCTACGCAGGACTCTGGACC	0.537																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(280-282)gGa>gAa		transmembrane protein 202							124.0	107.0	113.0					15																	72691193		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72691193G>A		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.281G>A	15.37:g.72691193G>A	ENSP00000340212:p.Gly94Glu					TMEM202_ENST00000567679.1_Intron	p.G94E	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			2	335	+			94						Missense_Mutation	SNP	ENST00000341689.3	37	c.281G>A	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108792	0.56398	.	.	ENSG00000187806	ENST00000341689	T	0.63580	-0.05	4.47	4.47	0.54385	.	0.000000	0.48286	D	0.000196	T	0.75027	0.3794	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77627	-0.2517	10	0.87932	D	0	-19.1563	12.5446	0.56193	0.0:0.0:1.0:0.0	.	94	A6NGA9	TM202_HUMAN	E	94	ENSP00000340212:G94E	ENSP00000340212:G94E	G	+	2	0	TMEM202	70478247	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	3.635000	0.54309	2.320000	0.78422	0.655000	0.94253	GGA		0.537	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		39	66	0	0	0	1	0	39	66				
OR5F1	338674	broad.mit.edu	37	11	55761640	55761640	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55761640C>T	ENST00000278409.1	-	1	461	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	154					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCATGAAGTTCAGCAACCCTG	0.507																																						ENST00000278409.1																			1	Substitution - coding silent(1)	p.L154L(1)	lung(1)	endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(460-462)ctG>ctA		olfactory receptor, family 5, subfamily F, member 1							54.0	53.0	53.0					11																	55761640		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761640C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.462G>A	11.37:g.55761640C>T							p.L154L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	461	-	Esophageal squamous(21;0.00448)		154					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.462G>A	CCDS31515.1																																																																																				0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		33	35	0	0	0	1	0	33	35				
FAM47A	158724	broad.mit.edu	37	X	34149011	34149011	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:34149011G>A	ENST00000346193.3	-	1	1436	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	462										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCCCCACAAGGGGATTTATG	0.592																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1384-1386)cCt>cTt		family with sequence similarity 47, member A							45.0	50.0	49.0					X																	34149011		2082	4205	6287	SO:0001583	missense	158724							g.chrX:34149011G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1385C>T	X.37:g.34149011G>A	ENSP00000345029:p.Pro462Leu						p.P462L	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1436	-			462					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1385C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.463319	0.01062	.	.	ENSG00000185448	ENST00000346193	T	0.22743	1.94	0.8	-1.6	0.08426	.	.	.	.	.	T	0.06600	0.0169	N	0.04508	-0.205	0.09310	N	1	B	0.28082	0.2	B	0.21360	0.034	T	0.32322	-0.9911	8	0.21014	T	0.42	.	.	.	.	.	462	Q5JRC9	FA47A_HUMAN	L	462	ENSP00000345029:P462L	ENSP00000345029:P462L	P	-	2	0	FAM47A	34058932	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.913000	0.04042	-1.058000	0.03197	0.183000	0.17082	CCT		0.592	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		23	55	0	0	0	1	0	23	55				
STIP1	10963	broad.mit.edu	37	11	63963214	63963214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:63963214C>T	ENST00000305218.4	+	5	748	c.601C>T	c.(601-603)Cca>Tca	p.P201S	STIP1_ENST00000538945.1_Missense_Mutation_p.P177S|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.P201S|STIP1_ENST00000358794.5_Missense_Mutation_p.P248S	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	201					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AACACCTCCACCACCACCCCC	0.507																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(742-744)Cca>Tca		stress-induced-phosphoprotein 1							127.0	126.0	126.0					11																	63963214		2201	4297	6498	SO:0001583	missense	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63963214C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.601C>T	11.37:g.63963214C>T	ENSP00000305958:p.Pro201Ser					STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.P201S|STIP1_ENST00000538945.1_Missense_Mutation_p.P177S|STIP1_ENST00000305218.4_Missense_Mutation_p.P201S	p.P248S			P31948	STIP1_HUMAN			5	1295	+			201					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	ENST00000305218.4	37	c.742C>T	CCDS8058.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453583	0.26161	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.70986	2.45;2.7;2.46;-0.53	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.67700	2.07	0.58432	D	0.999999	B;B;P	0.50528	0.045;0.124;0.936	B;B;P	0.48425	0.028;0.013;0.577	T	0.69161	-0.5218	10	0.10377	T	0.69	-12.855	18.0452	0.89330	0.0:1.0:0.0:0.0	.	177;201;201	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	S	248;201;177;201	ENSP00000351646:P248S;ENSP00000305958:P201S;ENSP00000445957:P177S;ENSP00000442704:P201S	ENSP00000305958:P201S	P	+	1	0	STIP1	63719790	1.000000	0.71417	0.567000	0.28434	0.149000	0.21700	4.673000	0.61604	2.744000	0.94065	0.561000	0.74099	CCA		0.507	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		21	49	0	0	0	1	0	21	49				
FHOD1	29109	broad.mit.edu	37	16	67272172	67272172	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67272172C>T	ENST00000258201.4	-	5	727	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	160	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGCTCAGCCCCTCTGAATGCA	0.592																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(478-480)gaG>gaA		formin homology 2 domain containing 1							75.0	66.0	69.0					16																	67272172		2198	4300	6498	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272172C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.480G>A	16.37:g.67272172C>T						FHOD1_ENST00000567687.1_Intron	p.E160E	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	5	727	-		Ovarian(137;0.0563)	160			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.480G>A	CCDS10834.1																																																																																				0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			21	37	0	0	0	1	0	21	37				
PRX	57716	broad.mit.edu	37	19	40903172	40903172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:40903172G>A	ENST00000324001.7	-	7	1357	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	363					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAAATCGGGGAAAACTAAGG	0.632																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1087-1089)Ccc>Tcc		periaxin							39.0	44.0	42.0					19																	40903172		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40903172G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1087C>T	19.37:g.40903172G>A	ENSP00000326018:p.Pro363Ser					PRX_ENST00000291825.7_3'UTR	p.P363S	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1357	-			363					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1087C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549333	0.45383	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02552	4.25	4.56	4.56	0.56223	.	0.303615	0.31884	N	0.006913	T	0.15696	0.0378	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01039	-1.1472	10	0.39692	T	0.17	-11.8422	16.2595	0.82533	0.0:0.0:1.0:0.0	.	363	Q9BXM0	PRAX_HUMAN	S	363	ENSP00000326018:P363S	ENSP00000326018:P363S	P	-	1	0	PRX	45595012	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	3.073000	0.50057	2.359000	0.80004	0.561000	0.74099	CCC		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		31	56	0	0	0	1	0	31	56				
STXBP3	6814	broad.mit.edu	37	1	109299377	109299377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109299377C>T	ENST00000370008.3	+	4	297	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	83	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCATCACTCCGACATCAAA	0.303																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(247-249)Ccg>Tcg		syntaxin binding protein 3							40.0	41.0	41.0					1																	109299377		2201	4292	6493	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109299377C>T	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.247C>T	1.37:g.109299377C>T	ENSP00000359025:p.Pro83Ser						p.P83S	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	4	297	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	83			Mediates interaction with DOC2B (By similarity).		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.247C>T	CCDS790.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584772	0.86748	.	.	ENSG00000116266	ENST00000370008	D	0.88354	-2.37	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	M	0.90759	3.145	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.95499	0.8576	10	0.72032	D	0.01	-11.2867	18.9527	0.92646	0.0:1.0:0.0:0.0	.	83	O00186	STXB3_HUMAN	S	83	ENSP00000359025:P83S	ENSP00000359025:P83S	P	+	1	0	STXBP3	109100900	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.002000	0.70693	2.777000	0.95525	0.591000	0.81541	CCG		0.303	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		6	19	0	0	0	1	0	6	19				
RCBTB1	55213	broad.mit.edu	37	13	50123614	50123614	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:50123614G>A	ENST00000378302.2	-	9	1285	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	RCBTB1_ENST00000258646.3_Missense_Mutation_p.S342L|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S342L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	342					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GAGGCGCCACGAGACGGCGGG	0.592																																						ENST00000378302.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(1024-1026)tCg>tTg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1							62.0	51.0	54.0					13																	50123614		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50123614G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1025C>T	13.37:g.50123614G>A	ENSP00000367552:p.Ser342Leu					RCBTB1_ENST00000258646.3_Missense_Mutation_p.S342L|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S342L	p.S342L	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	9	1285	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	342					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.1025C>T	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251062	0.59212	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	T;T;T	0.39406	1.28;1.28;1.08	5.15	5.15	0.70609	BTB/POZ fold (1);	0.284863	0.41001	D	0.000966	T	0.22627	0.0546	N	0.14661	0.345	0.34107	D	0.662573	B	0.10296	0.003	B	0.09377	0.004	T	0.24083	-1.0170	10	0.24483	T	0.36	-1.296	6.7051	0.23246	0.2214:0.0:0.7786:0.0	.	342	Q8NDN9	RCBT1_HUMAN	L	342	ENSP00000258646:S342L;ENSP00000367552:S342L;ENSP00000443293:S342L	ENSP00000258646:S342L	S	-	2	0	RCBTB1	49021615	1.000000	0.71417	0.549000	0.28204	0.807000	0.45602	5.078000	0.64425	2.394000	0.81467	0.462000	0.41574	TCG		0.592	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		16	11	0	0	0	1	0	16	11				
ATP11C	286410	broad.mit.edu	37	X	138825761	138825761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138825761C>T	ENST00000327569.3	-	26	3094	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	ATP11C_ENST00000359686.2_Missense_Mutation_p.G999E|ATP11C_ENST00000370557.1_Missense_Mutation_p.G993E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.G999E|ATP11C_ENST00000370543.1_Missense_Mutation_p.G999E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	999					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACAATGGTTCCAAAAGTCCA	0.254																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(2977-2979)gGa>gAa		ATPase, class VI, type 11C							42.0	35.0	37.0					X																	138825761		2196	4276	6472	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138825761C>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2996G>A	X.37:g.138825761C>T	ENSP00000332756:p.Gly999Glu					ATP11C_ENST00000370543.1_Missense_Mutation_p.G999E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G999E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G999E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G999E	p.G993E			Q8NB49	AT11C_HUMAN			26	4005	-	Acute lymphoblastic leukemia(192;0.000127)		999					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2978G>A	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.499162|4.499162	0.85069|0.85069	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000450801;ENST00000370543;ENST00000359686|ENST00000433868	T;T;T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91;0.91;0.91|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.88332|.	0.6408|.	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|.	0.92253|.	0.5810|.	10|.	0.87932|.	D|.	0|.	.|.	17.5113|17.5113	0.87761|0.87761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	999;999;999|.	Q8NB49-3;Q8NB49;Q8NB49-2|.	.;AT11C_HUMAN;.|.	E|X	993;999;999;63;999;999|31	ENSP00000359588:G993E;ENSP00000355165:G999E;ENSP00000332756:G999E;ENSP00000391259:G63E;ENSP00000359574:G999E;ENSP00000352715:G999E|.	ENSP00000332756:G999E|.	G|W	-|-	2|3	0|0	ATP11C|ATP11C	138653427|138653427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.213000|7.213000	0.77950|0.77950	2.349000|2.349000	0.79799|0.79799	0.529000|0.529000	0.55759|0.55759	GGA|TGG		0.254	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		7	19	0	0	0	1	0	7	19				
OR9K2	441639	broad.mit.edu	37	12	55524117	55524117	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55524117T>A	ENST00000305377.5	+	1	653	c.565T>A	c.(565-567)Ttt>Att	p.F189I		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TAGCATGACATTTACTTTATC	0.428																																						ENST00000305377.5																			0				NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						c.(565-567)Ttt>Att		olfactory receptor, family 9, subfamily K, member 2							154.0	143.0	147.0					12																	55524117		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524117T>A	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.565T>A	12.37:g.55524117T>A	ENSP00000307598:p.Phe189Ile						p.F189I	NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN			1	653	+			189					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.565T>A	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216805	0.58452	.	.	ENSG00000170605	ENST00000305377	T	0.00241	8.46	4.98	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.117164	0.38492	N	0.001664	T	0.00328	0.0010	M	0.76838	2.35	0.18873	N	0.999988	P	0.50369	0.934	P	0.52309	0.695	T	0.39292	-0.9621	10	0.72032	D	0.01	-34.0529	7.766	0.28980	0.0:0.0734:0.1396:0.787	.	189	Q8NGE7	OR9K2_HUMAN	I	189	ENSP00000307598:F189I	ENSP00000307598:F189I	F	+	1	0	OR9K2	53810384	0.000000	0.05858	0.334000	0.25495	0.755000	0.42902	0.067000	0.14510	0.456000	0.26937	0.528000	0.53228	TTT		0.428	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			46	56	0	0	0	1	0	46	56				
CCDC80	151887	broad.mit.edu	37	3	112357969	112357969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:112357969C>T	ENST00000206423.3	-	2	1737	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CCDC80_ENST00000439685.2_Missense_Mutation_p.D262N|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	262					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D262N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGGCCTTGGTCGATGACCTCG	0.572																																						ENST00000206423.3																			1	Substitution - Missense(1)	p.D262N(1)	lung(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(784-786)Gac>Aac		coiled-coil domain containing 80							152.0	133.0	140.0					3																	112357969		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357969C>T	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.784G>A	3.37:g.112357969C>T	ENSP00000206423:p.Asp262Asn					CCDC80_ENST00000439685.2_Missense_Mutation_p.D262N	p.D262N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	1737	-			262					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.784G>A	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897789	0.91962	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.77098	-1.07;-1.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88683	0.6503	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89933	0.4067	10	0.87932	D	0	-29.6201	18.8937	0.92414	0.0:1.0:0.0:0.0	.	273;262;262	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	N	262	ENSP00000206423:D262N;ENSP00000411814:D262N	ENSP00000206423:D262N	D	-	1	0	CCDC80	113840659	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.786000	0.85741	2.452000	0.82932	0.555000	0.69702	GAC		0.572	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		45	71	0	0	0	1	0	45	71				
CSNK1A1L	122011	broad.mit.edu	37	13	37679102	37679102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:37679102C>T	ENST00000379800.3	-	1	701	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAGAGGTCTTCGAGGCTGGGT	0.453																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(292-294)Gaa>Aaa		casein kinase 1, alpha 1-like							106.0	102.0	104.0					13																	37679102		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679102C>T	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.292G>A	13.37:g.37679102C>T	ENSP00000369126:p.Glu98Lys						p.E98K	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	701	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	98			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.292G>A	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447969	0.63178	.	.	ENSG00000180138	ENST00000379800	T	0.20069	2.1	1.01	-0.0414	0.13868	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	H	0.96301	3.8	0.42707	D	0.993637	D	0.89917	1.0	D	0.79108	0.992	T	0.52917	-0.8511	10	0.87932	D	0	.	6.4778	0.22045	0.0:0.692:0.308:0.0	.	98	Q8N752	KC1AL_HUMAN	K	98	ENSP00000369126:E98K	ENSP00000369126:E98K	E	-	1	0	CSNK1A1L	36577102	1.000000	0.71417	0.917000	0.36280	0.989000	0.77384	5.366000	0.66122	-0.053000	0.13289	0.561000	0.74099	GAA		0.453	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		33	53	0	0	0	1	0	33	53				
OR52B4	143496	broad.mit.edu	37	11	4388762	4388762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4388762C>T	ENST00000408920.2	-	1	854	c.764G>A	c.(763-765)gGg>gAg	p.G255E		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	255					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCCAGACCCATAAAAGAG	0.493																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(763-765)gGg>gAg		olfactory receptor, family 52, subfamily B, member 4							132.0	139.0	136.0					11																	4388762		2053	4206	6259	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388762C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.764G>A	11.37:g.4388762C>T	ENSP00000386160:p.Gly255Glu						p.G255E	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	854	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	255					A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.764G>A	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.348085	0.41599	.	.	ENSG00000221996	ENST00000408920	T	0.39056	1.1	5.27	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.549780	0.16334	N	0.219015	T	0.51991	0.1707	M	0.68317	2.08	0.21499	N	0.999667	D	0.53151	0.958	P	0.57468	0.821	T	0.37865	-0.9687	10	0.72032	D	0.01	.	8.2735	0.31857	0.3028:0.3333:0.3639:0.0	.	255	Q8NGK2	O52B4_HUMAN	E	255	ENSP00000386160:G255E	ENSP00000386160:G255E	G	-	2	0	OR52B4	4345338	0.000000	0.05858	0.901000	0.35422	0.165000	0.22458	0.210000	0.17455	0.781000	0.33589	-0.225000	0.12378	GGG		0.493	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		27	56	0	0	0	1	0	27	56				
AHNAK2	113146	broad.mit.edu	37	14	105418941	105418941	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:105418941C>T	ENST00000333244.5	-	7	2966	c.2847G>A	c.(2845-2847)aaG>aaA	p.K949K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	949						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACTTCCGCCTTGGGGCCTT	0.617																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2845-2847)aaG>aaA		AHNAK nucleoprotein 2							138.0	162.0	154.0					14																	105418941		1909	4108	6017	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418941C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2847G>A	14.37:g.105418941C>T						AHNAK2_ENST00000557457.1_Intron	p.K949K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2966	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	949					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2847G>A	CCDS45177.1																																																																																				0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		96	180	0	0	0	1	0	96	180				
DDR2	4921	broad.mit.edu	37	1	162725086	162725086	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162725086C>T	ENST00000367922.3	+	7	996	c.558C>T	c.(556-558)gtC>gtT	p.V186V	DDR2_ENST00000367921.3_Silent_p.V186V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	186					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACGGCTGTGTCTGGCTAGGTA	0.478																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(556-558)gtC>gtT		discoidin domain receptor tyrosine kinase 2							69.0	68.0	68.0					1																	162725086		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162725086C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.558C>T	1.37:g.162725086C>T						DDR2_ENST00000367921.3_Silent_p.V186V	p.V186V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		7	996	+	all_hematologic(112;0.115)		186					Q7Z730	Silent	SNP	ENST00000367922.3	37	c.558C>T	CCDS1241.1																																																																																				0.478	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		9	25	0	0	0	1	0	9	25				
PGBD5	79605	broad.mit.edu	37	1	230513310	230513310	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:230513310C>T	ENST00000525115.1	-	1	81	c.58G>A	c.(58-60)Gga>Aga	p.G20R	PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000321327.2_Missense_Mutation_p.G20R			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	20						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGCTCAGGTCCTGCAGAGTCC	0.547																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(58-60)Gga>Aga		piggyBac transposable element derived 5							68.0	55.0	59.0					1																	230513310		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230513310C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.58G>A	1.37:g.230513310C>T	ENSP00000431404:p.Gly20Arg					PGBD5_ENST00000525115.1_Missense_Mutation_p.G20R|PGBD5_ENST00000391860.1_Intron	p.G20R			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	1	57	-	Breast(184;0.0397)	Prostate(94;0.167)	20					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.58G>A		.	.	.	.	.	.	.	.	.	.	C	10.68	1.417077	0.25552	.	.	ENSG00000177614	ENST00000321327;ENST00000525115	T;T	0.53423	0.62;2.0	1.01	0.0524	0.14302	.	.	.	.	.	T	0.23330	0.0564	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.87932	D	0	.	3.3212	0.07050	0.0:0.7018:0.0:0.2982	.	20	Q8N414	PGBD5_HUMAN	R	20	ENSP00000322530:G20R;ENSP00000431404:G20R	ENSP00000322530:G20R	G	-	1	0	PGBD5	228579933	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.459000	0.06728	0.005000	0.14708	-0.145000	0.13849	GGA		0.547	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		6	9	0	0	0	1	0	6	9				
TTN	7273	broad.mit.edu	37	2	179577493	179577493	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179577493C>T	ENST00000591111.1	-	92	26532	c.26308G>A	c.(26308-26310)Gga>Aga	p.G8770R	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G9087R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12924	Ig-like 70.				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)			GTATATTCTCCACTTTGTGAT	0.413																																						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.(27259-27261)Gga>Aga		titin							91.0	87.0	88.0					2																	179577493		1913	4118	6031	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179577493C>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.26308G>A	2.37:g.179577493C>T	ENSP00000465570:p.Gly8770Arg					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN_ENST00000591111.1_Missense_Mutation_p.G8770R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G9087R	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)		94	27483	-			8770			Ig-like 74.		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.27259G>A		.	.	.	.	.	.	.	.	.	.	C	14.50	2.552834	0.45487	.	.	ENSG00000155657	ENST00000342992	T	0.77620	-1.11	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94198	0.8138	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96636	0.9470	9	0.87932	D	0	.	19.7139	0.96107	0.0:1.0:0.0:0.0	.	8770	Q8WZ42	TITIN_HUMAN	R	7843	ENSP00000343764:G7843R	ENSP00000343764:G7843R	G	-	1	0	TTN	179285738	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	7.664000	0.83830	2.722000	0.93159	0.655000	0.94253	GGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	43	0	0	0	1	0	13	43				
DNAH5	1767	broad.mit.edu	37	5	13865992	13865992	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13865992C>T	ENST00000265104.4	-	27	4244	c.4140G>A	c.(4138-4140)cgG>cgA	p.R1380R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1380	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGTATTTCCGATAGATAT	0.323									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(4138-4140)cgG>cgA		dynein, axonemal, heavy chain 5							45.0	51.0	49.0					5																	13865992		2198	4293	6491	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13865992C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4140G>A	5.37:g.13865992C>T						CTB-51A17.1_ENST00000503244.1_RNA	p.R1380R	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			27	4244	-	Lung NSC(4;0.00476)		1380			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4140G>A	CCDS3882.1																																																																																				0.323	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		20	34	0	0	0	1	0	20	34				
TENM1	10178	broad.mit.edu	37	X	123517859	123517859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:123517859G>A	ENST00000371130.3	-	29	6964	c.6901C>T	c.(6901-6903)Cac>Tac	p.H2301Y	TENM1_ENST00000422452.2_Missense_Mutation_p.H2308Y|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2301					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCAATAAGGTGACCTTGGAGA	0.433																																						ENST00000422452.2																			0											c.(6922-6924)Cac>Tac		teneurin transmembrane protein 1							118.0	109.0	112.0					X																	123517859		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123517859G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6901C>T	X.37:g.123517859G>A	ENSP00000360171:p.His2301Tyr					TENM1_ENST00000371130.3_Missense_Mutation_p.H2301Y|STAG2_ENST00000469481.1_Intron	p.H2308Y	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6985	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6922C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044336	0.75732	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86769	-2.17;-2.13	5.66	5.66	0.87406	.	0.047701	0.85682	D	0.000000	D	0.92750	0.7695	M	0.77313	2.365	0.80722	D	1	D;D;D	0.76494	0.971;0.986;0.999	P;P;P	0.61722	0.572;0.7;0.893	D	0.92283	0.5835	10	0.42905	T	0.14	.	18.6847	0.91559	0.0:0.0:1.0:0.0	.	2307;2308;2301	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	2301;2308	ENSP00000360171:H2301Y;ENSP00000403954:H2308Y	ENSP00000360171:H2301Y	H	-	1	0	ODZ1	123345540	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.356000	0.79943	0.600000	0.82982	CAC		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		62	118	0	0	0	1	0	62	118				
TRPC7	57113	broad.mit.edu	37	5	135651434	135651434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:135651434C>T	ENST00000513104.1	-	3	1096	c.814G>A	c.(814-816)Gat>Aat	p.D272N	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	272					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTACAAAATCCTTGCATTGC	0.493																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(814-816)Gat>Aat		transient receptor potential cation channel, subfamily C, member 7							73.0	76.0	75.0					5																	135651434		2070	4228	6298	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651434C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.814G>A	5.37:g.135651434C>T	ENSP00000426070:p.Asp272Asn					TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron	p.D272N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	1096	-			272					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.814G>A	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.729002|5.729002	0.96856|0.96856	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000513104;ENST00000265193|ENST00000502753	T|.	0.69561|.	-0.41|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.047895|.	0.85682|.	D|.	0.000000|.	T|T	0.73560|0.73560	0.3602|0.3602	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.38420|.	0.63;0.01|.	B;B|.	0.43155|.	0.41;0.019|.	T|T	0.68739|0.68739	-0.5329|-0.5329	10|5	0.41790|.	T|.	0.15|.	-20.7255|-20.7255	19.8946|19.8946	0.96949|0.96949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	272;272|.	Q70T25;Q9HCX4|.	.;TRPC7_HUMAN|.	N|E	272|271	ENSP00000426070:D272N|.	ENSP00000265193:D272N|.	D|G	-|-	1|2	0|0	TRPC7|TRPC7	135679333|135679333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAT|GGA		0.493	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		6	22	0	0	0	1	0	6	22				
KCND1	3750	broad.mit.edu	37	X	48826201	48826201	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48826201G>A	ENST00000218176.3	-	1	1775	c.478C>T	c.(478-480)Cca>Tca	p.P160S	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	160					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GGCAGGGCTGGGCCGTCCCCG	0.647																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(478-480)Cca>Tca		potassium voltage-gated channel, Shal-related subfamily, member 1							11.0	11.0	11.0					X																	48826201		2185	4275	6460	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48826201G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.478C>T	X.37:g.48826201G>A	ENSP00000218176:p.Pro160Ser						p.P160S	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			1	1775	-			160					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.478C>T	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	3.419	-0.118507	0.06838	.	.	ENSG00000102057	ENST00000218176	D	0.96041	-3.89	4.8	3.85	0.44370	.	0.129467	0.51477	N	0.000088	D	0.92922	0.7748	M	0.74647	2.275	0.20074	N	0.999935	B	0.26975	0.165	B	0.23018	0.043	D	0.83734	0.0200	10	0.25751	T	0.34	.	8.6884	0.34251	0.1253:0.0:0.8747:0.0	.	160	Q9NSA2	KCND1_HUMAN	S	160	ENSP00000218176:P160S	ENSP00000218176:P160S	P	-	1	0	KCND1	48711145	0.998000	0.40836	0.090000	0.20809	0.308000	0.27856	4.851000	0.62896	2.222000	0.72286	0.513000	0.50165	CCA		0.647	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		11	14	0	0	0	1	0	11	14				
LRRC30	339291	broad.mit.edu	37	18	7231424	7231424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:7231424C>T	ENST00000383467.2	+	1	302	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	96										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCCGGATCGTGGTCCTGA	0.577																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(286-288)atC>atT		leucine rich repeat containing 30							46.0	51.0	49.0					18																	7231424		1935	4135	6070	SO:0001819	synonymous_variant	339291							g.chr18:7231424C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.288C>T	18.37:g.7231424C>T							p.I96I	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	302	+			96						Silent	SNP	ENST00000383467.2	37	c.288C>T	CCDS42409.1																																																																																				0.577	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		18	37	0	0	0	1	0	18	37				
PRB3	5544	broad.mit.edu	37	12	11420854	11420854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11420854G>A	ENST00000279573.7	-	3	464	c.329C>T	c.(328-330)tCc>tTc	p.S110F	PRB3_ENST00000381842.3_Missense_Mutation_p.S110F|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.S110F			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	110	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGGACCTTGGGACTGGTTTCC	0.627																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							119.0	145.0	137.0					12																	11420854		1986	4169	6155	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420854G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.329C>T	12.37:g.11420854G>A	ENSP00000279573:p.Ser110Phe					PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	366	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	4.945	0.175500	0.09391	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04917	3.53;3.53	0.52	-0.701	0.11269	.	2.922960	0.02740	U	0.116147	T	0.04092	0.0114	.	.	.	0.09310	N	1	P	0.39809	0.689	B	0.26693	0.072	T	0.33497	-0.9866	9	0.59425	D	0.04	.	3.877	0.09061	0.5771:0.0:0.4229:0.0	.	110	Q04118	PRB3_HUMAN	F	110	ENSP00000371264:S110F;ENSP00000442626:S110F	ENSP00000279573:S110F	S	-	2	0	PRB3	11312121	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.989000	0.03736	-0.317000	0.08677	0.134000	0.15878	TCC		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		91	239	0	0	0	1	0	91	239				
CDC34	997	broad.mit.edu	37	19	536325	536325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536325C>T	ENST00000215574.4	+	3	565	c.347C>T	c.(346-348)cCc>cTc	p.P116L		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGGAACCCCACGCAGAAC	0.642																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(346-348)cCc>cTc		cell division cycle 34							52.0	55.0	54.0					19																	536325		2194	4298	6492	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:536325C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.347C>T	19.37:g.536325C>T	ENSP00000215574:p.Pro116Leu						p.P116L	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	565	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	116					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.347C>T	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496418	0.64186	.	.	ENSG00000099804	ENST00000215574	T	0.52754	0.65	5.19	4.14	0.48551	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83418	0.0031	10	0.87932	D	0	-1.9109	13.959	0.64166	0.1529:0.8471:0.0:0.0	.	116	P49427	UB2R1_HUMAN	L	116	ENSP00000215574:P116L	ENSP00000215574:P116L	P	+	2	0	CDC34	487325	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	5.854000	0.69503	1.176000	0.42840	0.650000	0.86243	CCC		0.642	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		7	4	0	0	0	1	0	7	4				
IFI30	10437	broad.mit.edu	37	19	18288548	18288548	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:18288548C>T	ENST00000407280.3	+	6	839	c.664C>T	c.(664-666)Ctt>Ttt	p.L222F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	222					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GACCCAGCTCCTTACCCTTGT	0.582																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(664-666)Ctt>Ttt		interferon, gamma-inducible protein 30							73.0	71.0	72.0					19																	18288548		1936	4144	6080	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18288548C>T	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.664C>T	19.37:g.18288548C>T	ENSP00000384886:p.Leu222Phe					PIK3R2_ENST00000593731.1_3'UTR	p.L222F	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			6	732	+			222					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.664C>T	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	C	7.063	0.566858	0.13560	.	.	ENSG00000216490	ENST00000407280	T	0.31769	1.48	4.0	0.727	0.18254	.	.	.	.	.	T	0.32346	0.0826	L	0.27944	0.81	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.15780	-1.0425	9	0.06099	T	0.92	-46.0694	8.4222	0.32707	0.0:0.7547:0.0:0.2453	.	222	P13284	GILT_HUMAN	F	222	ENSP00000384886:L222F	ENSP00000384886:L222F	L	+	1	0	IFI30	18149548	0.205000	0.23458	0.041000	0.18516	0.026000	0.11368	0.124000	0.15728	0.469000	0.27268	0.484000	0.47621	CTT		0.582	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		8	10	0	0	0	1	0	8	10				
MAST4	375449	broad.mit.edu	37	5	66461818	66461818	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461818C>T	ENST00000403625.2	+	29	7106	c.6811C>T	c.(6811-6813)Ccc>Tcc	p.P2271S	MAST4_ENST00000404260.3_Missense_Mutation_p.P2274S|MAST4_ENST00000261569.7_Missense_Mutation_p.P2077S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2274						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGGTGGGCCCTCTGTCCC	0.622											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6820-6822)Ccc>Tcc		microtubule associated serine/threonine kinase family member 4							36.0	43.0	41.0					5																	66461818		2010	4154	6164	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461818C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6811C>T	5.37:g.66461818C>T	ENSP00000385727:p.Pro2271Ser		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_ENST00000261569.7_Missense_Mutation_p.P2077S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082S	p.P2274S			O15021	MAST4_HUMAN		Lung(70;0.011)	29	7128	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2274					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6820C>T	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.79|11.79	1.744156|1.744156	0.30865|0.30865	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.66460	.|-0.19;-0.18;-0.21;-0.21;-0.19	4.7|4.7	1.78|1.78	0.24846|0.24846	.|.	.|0.714764	.|0.12662	.|N	.|0.449503	T|T	0.44008|0.44008	0.1273|0.1273	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12013	.|0.003;0.005	.|B;B	.|0.10450	.|0.002;0.005	T|T	0.23297|0.23297	-1.0192|-1.0192	5|10	.|0.17369	.|T	.|0.5	-2.9762|-2.9762	5.7687|5.7687	0.18241|0.18241	0.0:0.5731:0.1821:0.2448|0.0:0.5731:0.1821:0.2448	.|.	.|2274;2082	.|O15021;O15021-3	.|MAST4_HUMAN;.	V|S	1327|2274;2271;2082;2092;2092;2077	.|ENSP00000385048:P2274S;ENSP00000385727:P2271S;ENSP00000384313:P2082S;ENSP00000384099:P2092S;ENSP00000261569:P2077S	.|ENSP00000261569:P2077S	A|P	+|+	2|1	0|0	MAST4|MAST4	66497574|66497574	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.235000|0.235000	0.25334|0.25334	0.296000|0.296000	0.19083|0.19083	0.131000|0.131000	0.18576|0.18576	0.561000|0.561000	0.74099|0.74099	GCC|CCC		0.622	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			10	29	0	0	0	1	0	10	29				
MAGEE2	139599	broad.mit.edu	37	X	75004090	75004090	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:75004090G>A	ENST00000373359.2	-	1	989	c.797C>T	c.(796-798)gCc>gTc	p.A266V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	266	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTTCAGGGCTTCCATCTT	0.488																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(796-798)gCc>gTc		melanoma antigen family E, 2							63.0	63.0	63.0					X																	75004090		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004090G>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.797C>T	X.37:g.75004090G>A	ENSP00000362457:p.Ala266Val						p.A266V	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	989	-			266			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.797C>T	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	3.677	-0.066417	0.07273	.	.	ENSG00000186675	ENST00000373359	T	0.02158	4.42	3.1	1.3	0.21679	.	.	.	.	.	T	0.01387	0.0045	N	0.17474	0.49	0.24925	N	0.991956	B	0.29301	0.241	B	0.32762	0.152	T	0.44726	-0.9309	9	0.02654	T	1	.	4.7268	0.12945	0.3142:0.0:0.6858:0.0	.	266	Q8TD90	MAGE2_HUMAN	V	266	ENSP00000362457:A266V	ENSP00000362457:A266V	A	-	2	0	MAGEE2	74920815	1.000000	0.71417	0.976000	0.42696	0.840000	0.47671	1.653000	0.37323	0.206000	0.20587	0.422000	0.28245	GCC		0.488	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		59	65	0	0	0	1	0	59	65				
CPB1	1360	broad.mit.edu	37	3	148563319	148563319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148563319C>T	ENST00000491148.1	+	10	1221	c.887C>T	c.(886-888)tCc>tTc	p.S296F	CPB1_ENST00000282957.4_Missense_Mutation_p.S296F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	296						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAACTCTCTTCCATCAAGGCA	0.473																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(886-888)tCc>tTc		carboxypeptidase B1 (tissue)							142.0	137.0	139.0					3																	148563319		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563319C>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.887C>T	3.37:g.148563319C>T	ENSP00000417222:p.Ser296Phe					CPB1_ENST00000282957.4_Missense_Mutation_p.S296F	p.S296F			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1221	+			296					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.887C>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120101	0.37436	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.31510	1.49;1.49	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (2);	0.544436	0.21880	N	0.067742	T	0.56702	0.2003	M	0.70595	2.14	0.40794	D	0.983287	D	0.64830	0.994	D	0.68621	0.959	T	0.53479	-0.8433	10	0.42905	T	0.14	.	19.8033	0.96518	0.0:1.0:0.0:0.0	.	296	P15086	CBPB1_HUMAN	F	296	ENSP00000417222:S296F;ENSP00000282957:S296F	ENSP00000282957:S296F	S	+	2	0	CPB1	150046009	0.917000	0.31117	1.000000	0.80357	0.952000	0.60782	2.764000	0.47613	2.677000	0.91161	0.655000	0.94253	TCC		0.473	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		31	67	0	0	0	1	0	31	67				
TAOK2	9344	broad.mit.edu	37	16	29999289	29999289	+	Silent	SNP	C	C	T	rs374791132		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999289C>T	ENST00000308893.4	+	16	4739	c.3696C>T	c.(3694-3696)ccC>ccT	p.P1232P	TAOK2_ENST00000416441.2_Silent_p.P1059P|TAOK2_ENST00000543033.1_Silent_p.P1119P|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGCCCTGCCCCCCTGGAGGT	0.652																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3694-3696)ccC>ccT		TAO kinase 2							8.0	9.0	9.0					16																	29999289		1996	3993	5989	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999289C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3696C>T	16.37:g.29999289C>T						TAOK2_ENST00000416441.2_Silent_p.P1059P|TAOK2_ENST00000543033.1_Silent_p.P1119P|TAOK2_ENST00000279394.3_Intron	p.P1232P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4739	+			1232					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3696C>T	CCDS10663.1																																																																																				0.652	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		7	10	0	0	0	1	0	7	10				
TCTN2	79867	broad.mit.edu	37	12	124156103	124156103	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:124156103C>T	ENST00000303372.5	+	2	260	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TCTN2_ENST00000426174.2_Silent_p.S44S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	44					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.S44S(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCAGCGCGTCCCTGGTCGGAG	0.622																																						ENST00000303372.5																			1	Substitution - coding silent(1)	p.S44S(1)	large_intestine(1)	breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(130-132)tcC>tcT		tectonic family member 2							78.0	74.0	76.0					12																	124156103		2203	4300	6503	SO:0001819	synonymous_variant	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124156103C>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.132C>T	12.37:g.124156103C>T						TCTN2_ENST00000426174.2_Silent_p.S44S	p.S44S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	2	260	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		44					A8K7Y8|B3KPW5|Q9H966	Silent	SNP	ENST00000303372.5	37	c.132C>T	CCDS9253.1																																																																																				0.622	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		23	57	0	0	0	1	0	23	57				
COL7A1	1294	broad.mit.edu	37	3	48617032	48617032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:48617032G>A	ENST00000328333.8	-	58	5331	c.5224C>T	c.(5224-5226)Cct>Tct	p.P1742S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1742S|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1742	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTCCCCAGGGGCTCCAGGG	0.622																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5224-5226)Cct>Tct		collagen, type VII, alpha 1							36.0	40.0	38.0					3																	48617032		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48617032G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5224C>T	3.37:g.48617032G>A	ENSP00000332371:p.Pro1742Ser					COL7A1_ENST00000454817.1_Missense_Mutation_p.P1742S	p.P1742S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	58	5331	-			1742			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5224C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751938	0.31046	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96587	-4.06;-4.06	5.13	-4.25	0.03766	.	0.823013	0.10304	N	0.690784	D	0.92714	0.7684	M	0.71036	2.16	0.21184	N	0.999765	B	0.28128	0.201	B	0.30646	0.118	T	0.82796	-0.0280	10	0.17832	T	0.49	.	3.7621	0.08607	0.1481:0.1324:0.5881:0.1314	.	1742	Q02388	CO7A1_HUMAN	S	1742	ENSP00000332371:P1742S;ENSP00000412569:P1742S	ENSP00000332371:P1742S	P	-	1	0	COL7A1	48592036	0.933000	0.31639	0.780000	0.31762	0.298000	0.27526	1.485000	0.35519	-0.691000	0.05135	-0.793000	0.03317	CCT		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		23	37	0	0	0	1	0	23	37				
AKAP3	10566	broad.mit.edu	37	12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1477-1479)tCc>tTc		A kinase (PRKA) anchor protein 3							70.0	66.0	67.0					12																	4736590		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736590G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1478C>T	12.37:g.4736590G>A	ENSP00000440994:p.Ser493Phe					AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2002	-			493					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1478C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201168	0.06219	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09073	3.02;3.02	5.65	3.72	0.42706	A-kinase anchor 110kDa, C-terminal (1);	0.323582	0.27249	N	0.020222	T	0.06917	0.0176	L	0.36672	1.1	0.09310	N	1	P	0.36753	0.568	B	0.35413	0.202	T	0.25847	-1.0120	10	0.54805	T	0.06	-2.7088	7.4638	0.27310	0.0884:0.1674:0.7442:0.0	.	493	O75969	AKAP3_HUMAN	F	493	ENSP00000228850:S493F;ENSP00000440994:S493F	ENSP00000228850:S493F	S	-	2	0	AKAP3	4606851	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.441000	0.21611	1.537000	0.49254	0.655000	0.94253	TCC		0.453	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		10	20	0	0	0	1	0	10	20				
CPAMD8	27151	broad.mit.edu	37	19	17057950	17057950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17057950G>A	ENST00000443236.1	-	21	2768	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	866						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCTCCCCGGGGGCCACACAC	0.597																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(2737-2739)Ccc>Tcc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							134.0	134.0	134.0					19																	17057950		2008	4172	6180	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17057950G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2737C>T	19.37:g.17057950G>A	ENSP00000402505:p.Pro913Ser						p.P913S	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			21	2768	-			866					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.2737C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707678	0.03230	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	-3.56	0.04626	.	0.427833	0.22847	N	0.054917	T	0.34395	0.0896	N	0.22421	0.69	0.54753	D	0.999988	B	0.10296	0.003	B	0.08055	0.003	T	0.03503	-1.1030	9	0.23891	T	0.37	.	8.9609	0.35847	0.5482:0.0:0.4518:0.0	.	866	Q8IZJ3	CPMD8_HUMAN	S	913	.	ENSP00000291440:P913S	P	-	1	0	CPAMD8	16918950	1.000000	0.71417	0.000000	0.03702	0.440000	0.31957	1.315000	0.33608	-1.243000	0.02519	-0.658000	0.03865	CCC		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		64	111	0	0	0	1	0	64	111				
FAT3	120114	broad.mit.edu	37	11	92577555	92577555	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92577555G>A	ENST00000298047.6	+	18	11039	c.11022G>A	c.(11020-11022)cgG>cgA	p.R3674R	FAT3_ENST00000525166.1_Silent_p.R3524R|FAT3_ENST00000409404.2_Silent_p.R3674R|FAT3_ENST00000533797.1_Silent_p.R9R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3674					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACCCTGCGGAATGCAGTCC	0.587										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11020-11022)cgG>cgA		FAT atypical cadherin 3							43.0	46.0	45.0					11																	92577555		2165	4271	6436	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577555G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11022G>A	11.37:g.92577555G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.R9R|FAT3_ENST00000525166.1_Silent_p.R3524R|FAT3_ENST00000409404.2_Silent_p.R3674R	p.R3674R			Q8TDW7	FAT3_HUMAN			18	11039	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3674					B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11022G>A																																																																																					0.587	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		21	24	0	0	0	1	0	21	24				
C3AR1	719	broad.mit.edu	37	12	8212283	8212283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:8212283C>T	ENST00000307637.4	-	2	702	c.499G>A	c.(499-501)Gac>Aac	p.D167N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	167					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTATGGTTGTCTGTAGTGAAG	0.433																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(499-501)Gac>Aac		complement component 3a receptor 1							138.0	123.0	128.0					12																	8212283		2203	4300	6503	SO:0001583	missense	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212283C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.499G>A	12.37:g.8212283C>T	ENSP00000302079:p.Asp167Asn						p.D167N	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	702	-			167					O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	c.499G>A	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650971	0.29336	.	.	ENSG00000171860	ENST00000307637	T	0.71817	-0.6	5.46	0.349	0.16032	GPCR, rhodopsin-like superfamily (1);	1.304990	0.05164	N	0.498328	T	0.48021	0.1477	N	0.16833	0.445	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.17868	-1.0355	10	0.13108	T	0.6	.	1.1581	0.01800	0.1527:0.3964:0.1346:0.3163	.	167	Q16581	C3AR_HUMAN	N	167	ENSP00000302079:D167N	ENSP00000302079:D167N	D	-	1	0	C3AR1	8103550	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.075000	0.11431	-0.137000	0.11455	0.655000	0.94253	GAC		0.433	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			41	75	0	0	0	1	0	41	75				
SLC25A19	60386	broad.mit.edu	37	17	73282738	73282738	+	Silent	SNP	G	G	A	rs138021838		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73282738G>A	ENST00000402418.3	-	1	1017	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SLC25A19_ENST00000375261.4_Silent_p.F36F|SLC25A19_ENST00000416858.2_Silent_p.F36F|SLC25A19_ENST00000442286.2_Silent_p.F36F|SLC25A19_ENST00000320362.3_Silent_p.F36F|SLC25A19_ENST00000580994.1_Silent_p.F36F			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	36					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			TGATGACGTCGAAGGGACTGA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19342	0.001		0.0	False		,,,				2504	0.0					ENST00000402418.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(106-108)ttC>ttT		solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							125.0	108.0	114.0					17																	73282738		2203	4300	6503	SO:0001819	synonymous_variant	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73282738G>A		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.108C>T	17.37:g.73282738G>A						SLC25A19_ENST00000580994.1_Silent_p.F36F|SLC25A19_ENST00000320362.3_Silent_p.F36F|SLC25A19_ENST00000416858.2_Silent_p.F36F|SLC25A19_ENST00000375261.4_Silent_p.F36F|SLC25A19_ENST00000442286.2_Silent_p.F36F	p.F36F			Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		1	1017	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		36					E9PF74|Q6V9R7	Silent	SNP	ENST00000402418.3	37	c.108C>T	CCDS11720.1																																																																																				0.498	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		20	33	0	0	0	1	0	20	33				
KMT2D	8085	broad.mit.edu	37	12	49433077	49433077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49433077G>A	ENST00000301067.7	-	33	8293	c.8294C>T	c.(8293-8295)tCc>tTc	p.S2765F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2765					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTAGGGAAGGACCCTGGCCC	0.617																																						ENST00000301067.7																			0											c.(8293-8295)tCc>tTc		lysine (K)-specific methyltransferase 2D							38.0	45.0	43.0					12																	49433077		1879	4097	5976	SO:0001583	missense	8085							g.chr12:49433077G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8294C>T	12.37:g.49433077G>A	ENSP00000301067:p.Ser2765Phe						p.S2765F	NM_003482.3	NP_003473.3					33	8293	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8294C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466560	0.26335	.	.	ENSG00000167548	ENST00000301067	T	0.79141	-1.24	4.8	4.8	0.61643	.	0.461167	0.16236	N	0.223342	T	0.63663	0.2530	N	0.14661	0.345	0.26853	N	0.968115	B	0.28512	0.214	B	0.25140	0.058	T	0.62053	-0.6935	10	0.87932	D	0	.	13.5776	0.61883	0.0:0.0:1.0:0.0	.	2765	O14686	MLL2_HUMAN	F	2765	ENSP00000301067:S2765F	ENSP00000301067:S2765F	S	-	2	0	MLL2	47719344	0.671000	0.27521	0.883000	0.34634	0.403000	0.30841	3.889000	0.56212	2.670000	0.90874	0.561000	0.74099	TCC		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	41	0	0	0	1	0	24	41				
LRRN3	54674	broad.mit.edu	37	7	110764643	110764643	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:110764643A>T	ENST00000422987.3	+	2	2646	c.1815A>T	c.(1813-1815)aaA>aaT	p.K605N	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.K605N|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.K605N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	605	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAGAAAAAAATGTGTAAATG	0.363																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1813-1815)aaA>aaT		leucine rich repeat neuronal 3							47.0	48.0	48.0					7																	110764643		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764643A>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1815A>T	7.37:g.110764643A>T	ENSP00000412417:p.Lys605Asn					IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.K605N|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.K605N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron	p.K605N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2861	+			605			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1815A>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254669	0.22965	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.47528	0.84;0.84;0.84	5.59	-4.54	0.03452	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.381500	0.22859	N	0.054773	T	0.20659	0.0497	N	0.08118	0	0.31153	N	0.705212	B	0.02656	0.0	B	0.04013	0.001	T	0.03534	-1.1027	10	0.49607	T	0.09	.	7.8866	0.29653	0.5092:0.1118:0.379:0.0	.	605	Q9H3W5	LRRN3_HUMAN	N	605	ENSP00000312001:K605N;ENSP00000397312:K605N;ENSP00000412417:K605N	ENSP00000312001:K605N	K	+	3	2	LRRN3	110551879	0.931000	0.31567	0.966000	0.40874	0.974000	0.67602	0.217000	0.17603	-0.580000	0.05944	-0.256000	0.11100	AAA		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		19	45	0	0	0	1	0	19	45				
LRP1B	53353	broad.mit.edu	37	2	141747122	141747122	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:141747122C>T	ENST00000389484.3	-	17	3720	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2749-2751)Gaa>Aaa		low density lipoprotein receptor-related protein 1B							134.0	127.0	129.0					2																	141747122		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747122C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2749G>A	2.37:g.141747122C>T	ENSP00000374135:p.Glu917Lys	TSP Lung(27;0.18)					p.E917K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3720	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	917			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2749G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	37	6.156624	0.97334	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97924	-4.61	5.69	5.69	0.88448	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99363	0.9776	H	0.98466	4.24	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98413	1.0573	10	0.66056	D	0.02	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	917	Q9NZR2	LRP1B_HUMAN	K	917;855	ENSP00000374135:E917K	ENSP00000374135:E917K	E	-	1	0	LRP1B	141463592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.727000	0.84838	2.840000	0.97914	0.655000	0.94253	GAA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		33	28	0	0	0	1	0	33	28				
LOXL2	4017	broad.mit.edu	37	8	23217678	23217678	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:23217678C>T	ENST00000389131.3	-	3	825	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	152	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACCGACATCCTCCGTGTGCT	0.522																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(454-456)gaG>gaA		lysyl oxidase-like 2							111.0	93.0	99.0					8																	23217678		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23217678C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.456G>A	8.37:g.23217678C>T						RP11-177H13.2_ENST00000519692.1_RNA	p.E152E	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	3	825	-		Prostate(55;0.0453)|Breast(100;0.143)	152			SRCR 1.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.456G>A	CCDS34864.1																																																																																				0.522	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			26	34	0	0	0	1	0	26	34				
RIMBP3	85376	broad.mit.edu	37	22	20457160	20457160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:20457160T>A	ENST00000426804.1	-	1	4626	c.4142A>T	c.(4141-4143)gAg>gTg	p.E1381V	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1381										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTCCTGCTCCTCCTTCAAAAC	0.592																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4141-4143)gAg>gTg		RIMS binding protein 3							67.0	78.0	75.0					22																	20457160		1974	4187	6161	SO:0001583	missense	85376							g.chr22:20457160T>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4142A>T	22.37:g.20457160T>A	ENSP00000391564:p.Glu1381Val						p.E1381V	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4626	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4142A>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741440	0.30865	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.23147	1.92	3.58	2.49	0.30216	.	1.238380	0.05635	N	0.582453	T	0.18635	0.0447	N	0.19112	0.55	0.18873	N	0.999982	D	0.54207	0.965	B	0.42738	0.396	T	0.17501	-1.0367	10	0.40728	T	0.16	-5.052	6.7897	0.23693	0.0:0.0:0.2404:0.7596	.	1287	Q9UFD9	RIM3A_HUMAN	V	1287;1381	ENSP00000391564:E1381V	ENSP00000347318:E1287V	E	-	2	0	RIMBP3	18837160	0.071000	0.21146	0.154000	0.22540	0.193000	0.23685	1.449000	0.35123	0.526000	0.28541	0.347000	0.21830	GAG		0.592	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		9	16	0	0	0	1	0	9	16				
UBA1	7317	broad.mit.edu	37	X	47060900	47060900	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:47060900C>T	ENST00000335972.6	+	8	885	c.702C>T	c.(700-702)tgC>tgT	p.C234C	UBA1_ENST00000377351.4_Silent_p.C234C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	234	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGTTACCTGCCTGGATGAGG	0.547																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(700-702)tgC>tgT		ubiquitin-like modifier activating enzyme 1							38.0	33.0	35.0					X																	47060900		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060900C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.702C>T	X.37:g.47060900C>T						UBA1_ENST00000377351.4_Silent_p.C234C	p.C234C	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			8	885	+			234			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.702C>T	CCDS14275.1																																																																																				0.547	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		12	43	0	0	0	1	0	12	43				
BGN	633	broad.mit.edu	37	X	152772638	152772638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152772638C>T	ENST00000331595.4	+	7	1090	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	302					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCAAGCTCCTCCAGGTGAG	0.662																																						ENST00000331595.4																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16						c.(904-906)Ctc>Ttc		biglycan							19.0	18.0	19.0					X																	152772638		2199	4300	6499	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152772638C>T	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.904C>T	X.37:g.152772638C>T	ENSP00000327336:p.Leu302Phe					BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.L241F	p.L302F	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN			7	1090	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		302					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.904C>T	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534081	0.64972	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	D;D	0.82711	-1.64;-1.64	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	H	0.98559	4.265	0.58432	D	0.999991	D	0.89917	1.0	D	0.79784	0.993	D	0.96920	0.9673	10	0.87932	D	0	-31.1316	16.0191	0.80468	0.0:1.0:0.0:0.0	.	302	P21810	PGS1_HUMAN	F	302;241;241	ENSP00000327336:L302F;ENSP00000359223:L241F	ENSP00000327336:L302F	L	+	1	0	BGN	152425832	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	1.804000	0.38873	2.118000	0.64928	0.529000	0.55759	CTC		0.662	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1	NM_001711		19	12	0	0	0	1	0	19	12				
PIK3CA	5290	broad.mit.edu	37	3	178916924	178916924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178916924C>T	ENST00000263967.3	+	2	468	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	104	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAATTGAACCAGTAGGCAAC	0.353		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		4	Substitution - Missense(2)|Complex - deletion inframe(2)	p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1)	large_intestine(2)|NS(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(310-312)cCa>cTa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							92.0	88.0	89.0					3																	178916924		1819	4069	5888	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916924C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.311C>T	3.37:g.178916924C>T	ENSP00000263967:p.Pro104Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.P104L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	468	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		104			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.311C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255170	0.80135	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73575	-0.76;-0.76	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.82456	-0.0448	9	.	.	.	-19.3096	19.4272	0.94746	0.0:1.0:0.0:0.0	.	104	P42336	PK3CA_HUMAN	L	104	ENSP00000263967:P104L;ENSP00000417479:P104L	.	P	+	2	0	PIK3CA	180399618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.584000	0.87258	0.555000	0.69702	CCA		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			21	44	0	0	0	1	0	21	44				
CIITA	4261	broad.mit.edu	37	16	11000927	11000927	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11000927G>A	ENST00000324288.8	+	11	1711	c.1578G>A	c.(1576-1578)cgG>cgA	p.R526R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	526	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCTCCCTCCGGGGGCTGCTGG	0.687			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(1576-1578)cgG>cgA		class II, major histocompatibility complex, transactivator							23.0	28.0	26.0					16																	11000927		2189	4289	6478	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11000927G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1578G>A	16.37:g.11000927G>A						CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R526R	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	1711	+			526			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.1578G>A	CCDS10544.1																																																																																				0.687	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		22	34	0	0	0	1	0	22	34				
TNF	7124	broad.mit.edu	37	6	31544999	31544999	+	Silent	SNP	G	G	A	rs537268309	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31544999G>A	ENST00000449264.2	+	4	562	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	129					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	TGCCATCAGAGGGCCTGTACC	0.632									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				G|||	2	0.000399361	0.0	0.0	5008	,	,		18932	0.002		0.0	False		,,,				2504	0.0					ENST00000449264.2																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(385-387)gaG>gaA		tumor necrosis factor	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						133.0	100.0	112.0					6																	31544999		1511	2709	4220	SO:0001819	synonymous_variant	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31544999G>A	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.387G>A	6.37:g.31544999G>A							p.E129E	NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN			4	562	+		Ovarian(999;0.00556)	129					O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	c.387G>A	CCDS4702.1																																																																																				0.632	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			4	64	0	0	0	1	0	4	64				
GPSM3	63940	broad.mit.edu	37	6	32159644	32159644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32159644C>T	ENST00000375040.3	-	3	579	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	63	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						AGAAGGAGTTCAGTCTGCAGG	0.672																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(187-189)Gaa>Aaa		G-protein signaling modulator 3							34.0	44.0	41.0					6																	32159644		1507	2707	4214	SO:0001583	missense	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159644C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.187G>A	6.37:g.32159644C>T	ENSP00000364180:p.Glu63Lys					GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K	p.E63K	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			3	579	-			63			GoLoco 1.		A2BFJ3	Missense_Mutation	SNP	ENST00000375040.3	37	c.187G>A	CCDS34419.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214988	0.79352	.	.	ENSG00000213654	ENST00000487761;ENST00000375040;ENST00000375043	.	.	.	4.19	4.19	0.49359	GoLoco motif (3);	0.000000	0.64402	U	0.000015	T	0.53674	0.1811	L	0.27053	0.805	0.45477	D	0.998445	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	T	0.60984	-0.7154	9	0.72032	D	0.01	-17.9208	11.8856	0.52600	0.0:1.0:0.0:0.0	.	63;63	Q9Y4H4;A2BFJ3	GPSM3_HUMAN;.	K	60;63;63	.	ENSP00000364180:E63K	E	-	1	0	GPSM3	32267622	0.973000	0.33851	0.989000	0.46669	0.928000	0.56348	3.635000	0.54309	2.176000	0.68965	0.305000	0.20034	GAA		0.672	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		19	12	0	0	0	1	0	19	12				
CHAF1B	8208	broad.mit.edu	37	21	37785504	37785504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:37785504G>A	ENST00000314103.5	+	12	1535	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	462					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CCCCTTGCCGGGGCCTTCGGA	0.627																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1384-1386)Ggg>Agg		chromatin assembly factor 1, subunit B (p60)							28.0	29.0	29.0					21																	37785504		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785504G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1384G>A	21.37:g.37785504G>A	ENSP00000315700:p.Gly462Arg						p.G462R	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1535	+			462					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1384G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229445	0.06022	.	.	ENSG00000159259	ENST00000314103	T	0.41758	0.99	4.98	1.97	0.26223	.	1.292330	0.04923	N	0.455331	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.17369	T	0.5	-4.4581	3.4416	0.07465	0.0949:0.444:0.2564:0.2047	.	462	Q13112	CAF1B_HUMAN	R	462	ENSP00000315700:G462R	ENSP00000315700:G462R	G	+	1	0	CHAF1B	36707374	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.120000	0.15647	0.469000	0.27268	0.558000	0.71614	GGG		0.627	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		23	5	0	0	0	1	0	23	5				
TRMU	55687	broad.mit.edu	37	22	46742369	46742369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:46742369G>A	ENST00000290846.4	+	4	746	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TRMU_ENST00000381019.3_Missense_Mutation_p.E136K|TRMU_ENST00000424260.2_Missense_Mutation_p.E101K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	136					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)		CCTGGAAGATGAAGAAGTCTT	0.458																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(406-408)Gaa>Aaa		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							79.0	80.0	80.0					22																	46742369		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46742369G>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.406G>A	22.37:g.46742369G>A	ENSP00000290846:p.Glu136Lys					TRMU_ENST00000424260.2_Missense_Mutation_p.E101K|TRMU_ENST00000381019.3_Missense_Mutation_p.E136K	p.E136K	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	4	746	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	136					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.406G>A	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	g	16.31	3.087737	0.55968	.	.	ENSG00000100416	ENST00000290846;ENST00000381019;ENST00000424260	T;T;T	0.74737	-0.54;-0.87;-0.61	5.41	5.41	0.78517	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.157213	0.56097	D	0.000040	T	0.64692	0.2621	L	0.35854	1.095	0.80722	D	1	P;B;B	0.35226	0.491;0.045;0.003	B;B;B	0.31946	0.138;0.033;0.008	T	0.68603	-0.5365	10	0.66056	D	0.02	-20.4171	13.1906	0.59709	0.0772:0.0:0.9228:0.0	.	136;136;136	B4DHM1;O75648-2;O75648	.;.;MTU1_HUMAN	K	136;136;101	ENSP00000290846:E136K;ENSP00000370407:E136K;ENSP00000406038:E101K	ENSP00000290846:E136K	E	+	1	0	TRMU	45121033	1.000000	0.71417	0.941000	0.38009	0.890000	0.51754	6.919000	0.75793	2.546000	0.85860	0.651000	0.88453	GAA		0.458	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		31	52	0	0	0	1	0	31	52				
SLC30A5	64924	broad.mit.edu	37	5	68412345	68412345	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:68412345C>T	ENST00000396591.3	+	10	1807	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	399					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTCAATCGATCCCTAGGTTTA	0.373																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1195-1197)atC>atT		solute carrier family 30 (zinc transporter), member 5							74.0	77.0	76.0					5																	68412345		2203	4300	6503	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68412345C>T	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1197C>T	5.37:g.68412345C>T						CTC-498J12.3_ENST00000504129.1_RNA	p.I399I	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	10	1807	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	399					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.1197C>T	CCDS3996.1																																																																																				0.373	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			20	41	0	0	0	1	0	20	41				
FAM47C	442444	broad.mit.edu	37	X	37028493	37028493	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37028493C>T	ENST00000358047.3	+	1	2062	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	670										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCGGAGCCCCCCGAGACTG	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2008-2010)ccC>ccT		family with sequence similarity 47, member C							18.0	19.0	18.0					X																	37028493		2156	4246	6402	SO:0001819	synonymous_variant	442444							g.chrX:37028493C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2010C>T	X.37:g.37028493C>T							p.P670P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2062	+			670					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2010C>T	CCDS35227.1																																																																																				0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		43	38	0	0	0	1	0	43	38				
COL9A2	1298	broad.mit.edu	37	1	40777366	40777366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40777366G>A	ENST00000372748.3	-	9	535	c.439C>T	c.(439-441)Cca>Tca	p.P147S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	147	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCCCGATGGTCCATCTGGT	0.612																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(439-441)Cca>Tca		collagen, type IX, alpha 2							44.0	55.0	51.0					1																	40777366		2198	4295	6493	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40777366G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.439C>T	1.37:g.40777366G>A	ENSP00000361834:p.Pro147Ser						p.P147S	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		9	535	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	147			Triple-helical region 4 (COL4).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.439C>T	CCDS450.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.62|14.62	2.590778|2.590778	0.46214|0.46214	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748;ENST00000372736|ENST00000417105	D;D|.	0.96802|.	-4.13;-3.16|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.166220|.	0.53938|.	D|.	0.000048|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	P|.	0.59424|.	0.857|.	T|T	0.72947|0.72947	-0.4137|-0.4137	10|5	0.49607|.	T|.	0.09|.	.|.	15.8313|15.8313	0.78752|0.78752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	147|.	Q14055|.	CO9A2_HUMAN|.	S|I	147;76|135	ENSP00000361834:P147S;ENSP00000361821:P76S|.	ENSP00000361821:P76S|.	P|T	-|-	1|2	0|0	COL9A2|COL9A2	40549953|40549953	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.126000|0.126000	0.20510|0.20510	6.045000|6.045000	0.71020|0.71020	2.797000|2.797000	0.96272|0.96272	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.612	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		40	44	0	0	0	1	0	40	44				
ATP8A1	10396	broad.mit.edu	37	4	42466779	42466779	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:42466779G>A	ENST00000381668.5	-	27	2778	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	ATP8A1_ENST00000264449.10_Silent_p.A834A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	849					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TATAGTTCCAGGCACCATGAA	0.328																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2545-2547)gcC>gcT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						75.0	81.0	79.0					4																	42466779		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42466779G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2547C>T	4.37:g.42466779G>A						ATP8A1_ENST00000264449.10_Silent_p.A834A	p.A849A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			27	2778	-			849					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.2547C>T	CCDS3466.1																																																																																				0.328	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		15	44	0	0	0	1	0	15	44				
SRGAP3	9901	broad.mit.edu	37	3	9055174	9055174	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055174C>T	ENST00000383836.3	-	17	2392	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	SRGAP3_ENST00000360413.3_Silent_p.L631L|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	655	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCAGATGGCCAGGTTGTAGG	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1963-1965)ctG>ctA		SLIT-ROBO Rho GTPase activating protein 3							116.0	105.0	109.0					3																	9055174		2203	4300	6503	SO:0001819	synonymous_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055174C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1965G>A	3.37:g.9055174C>T						SRGAP3_ENST00000360413.3_Silent_p.L631L	p.L655L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2392	-			655			Rho-GAP.		Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	c.1965G>A	CCDS2572.1																																																																																				0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			20	37	0	0	0	1	0	20	37				
FOXN3	1112	broad.mit.edu	37	14	89628855	89628855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:89628855G>A	ENST00000345097.4	-	7	1492	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	FOXN3_ENST00000555353.1_Missense_Mutation_p.S437F|FOXN3_ENST00000261302.5_Missense_Mutation_p.S459F|FOXN3_ENST00000557258.1_Missense_Mutation_p.S437F	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	459					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGCAGGAGGGACCCTGCCGC	0.522																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1375-1377)tCc>tTc		forkhead box N3							69.0	69.0	69.0					14																	89628855		2203	4300	6503	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628855G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1376C>T	14.37:g.89628855G>A	ENSP00000343288:p.Ser459Phe					FOXN3_ENST00000557258.1_Missense_Mutation_p.S437F|FOXN3_ENST00000261302.5_Missense_Mutation_p.S459F|FOXN3_ENST00000555353.1_Missense_Mutation_p.S437F	p.S459F	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1492	-			459					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.1376C>T	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497594	0.44455	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.95	5.95	0.96441	.	0.119022	0.64402	D	0.000019	T	0.78941	0.4363	M	0.62723	1.935	0.80722	D	1	P;D	0.89917	0.766;1.0	B;D	0.87578	0.243;0.998	T	0.79060	-0.1958	10	0.87932	D	0	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	459;437	O00409;O00409-2	FOXN3_HUMAN;.	F	459;459;437;437	ENSP00000343288:S459F;ENSP00000261302:S459F;ENSP00000452005:S437F;ENSP00000452227:S437F	ENSP00000261302:S459F	S	-	2	0	FOXN3	88698608	1.000000	0.71417	0.706000	0.30403	0.324000	0.28378	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	TCC		0.522	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		34	50	0	0	0	1	0	34	50				
CEP76	79959	broad.mit.edu	37	18	12678181	12678181	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:12678181G>A	ENST00000262127.2	-	10	1775	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	CEP76_ENST00000423709.2_Missense_Mutation_p.S442F|PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000589405.1_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	517					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCAATTGTGGATGCACACAG	0.443																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1549-1551)tCc>tTc		centrosomal protein 76kDa							180.0	168.0	172.0					18																	12678181		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12678181G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1550C>T	18.37:g.12678181G>A	ENSP00000262127:p.Ser517Phe					CEP76_ENST00000423709.2_Missense_Mutation_p.S442F|RP11-973H7.2_ENST00000585331.1_RNA	p.S517F	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			10	1775	-			517					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1550C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085025	0.55861	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;D	0.91351	-2.83;-2.83	5.65	5.65	0.86999	.	0.051569	0.85682	D	0.000000	D	0.94506	0.8231	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.66847	0.947;0.858	D	0.94284	0.7522	10	0.59425	D	0.04	-21.3619	19.7116	0.96098	0.0:0.0:1.0:0.0	.	442;517	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	F	517;442	ENSP00000262127:S517F;ENSP00000403074:S442F	ENSP00000262127:S517F	S	-	2	0	CEP76	12668181	1.000000	0.71417	0.964000	0.40570	0.656000	0.38851	9.869000	0.99810	2.660000	0.90430	0.591000	0.81541	TCC		0.443	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		43	65	0	0	0	1	0	43	65				
S100A7	6278	broad.mit.edu	37	1	153430317	153430317	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:153430317G>A	ENST00000368723.3	-	3	381	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	S100A7_ENST00000368722.1_Missense_Mutation_p.H91Y	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	91					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTCCATGGCTCTGCTTG	0.517																																						ENST00000368723.3																			0				breast(1)|large_intestine(2)|lung(5)|skin(2)	10						c.(271-273)Cat>Tat		S100 calcium binding protein A7							84.0	78.0	80.0					1																	153430317		2203	4300	6503	SO:0001583	missense	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430317G>A	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.271C>T	1.37:g.153430317G>A	ENSP00000357712:p.His91Tyr					S100A7_ENST00000368722.1_Missense_Mutation_p.H91Y	p.H91Y	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	381	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		91					Q5SY67|Q6FGE3|Q9H1E2	Missense_Mutation	SNP	ENST00000368723.3	37	c.271C>T	CCDS1039.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.962842	0.34659	.	.	ENSG00000143556	ENST00000368723;ENST00000368722	T;T	0.06687	3.27;3.27	2.13	2.13	0.27403	EF-hand-like domain (1);	.	.	.	.	T	0.14657	0.0354	M	0.81341	2.54	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.02860	-1.1101	9	0.87932	D	0	.	7.8749	0.29589	0.0:0.0:1.0:0.0	.	91	P31151	S10A7_HUMAN	Y	91	ENSP00000357712:H91Y;ENSP00000357711:H91Y	ENSP00000357711:H91Y	H	-	1	0	S100A7	151696941	0.479000	0.25925	0.012000	0.15200	0.015000	0.08874	2.386000	0.44380	1.524000	0.49035	0.173000	0.16961	CAT		0.517	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		34	43	0	0	0	1	0	34	43				
SLC35G5	83650	broad.mit.edu	37	8	11188892	11188892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:11188892C>T	ENST00000382435.4	+	1	496	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	93	EamA 1.					integral component of membrane (GO:0016021)											GCGTGGCGACCCCCTTCTGGG	0.592																																						ENST00000382435.4																			0											c.(277-279)Ccc>Tcc		solute carrier family 35, member G5							185.0	193.0	190.0					8																	11188892		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188892C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.277C>T	8.37:g.11188892C>T	ENSP00000371872:p.Pro93Ser						p.P93S	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	496	+			93			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.277C>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.324915	0.24080	.	.	ENSG00000177710	ENST00000382435	T	0.50548	0.74	0.34	0.34	0.15985	.	0.000000	0.36740	N	0.002440	T	0.31670	0.0804	L	0.32530	0.975	0.38415	D	0.946032	P	0.42296	0.775	B	0.43658	0.426	T	0.15578	-1.0432	10	0.12103	T	0.63	-4.6588	6.5344	0.22344	0.0:0.9998:0.0:2.0E-4	.	93	Q96KT7	S35G5_HUMAN	S	93	ENSP00000371872:P93S	ENSP00000371872:P93S	P	+	1	0	SLC35G5	11226302	0.220000	0.23631	0.053000	0.19242	0.047000	0.14425	1.456000	0.35201	0.426000	0.26116	0.089000	0.15464	CCC		0.592	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		82	189	0	0	0	1	0	82	189				
FLG	2312	broad.mit.edu	37	1	152283285	152283285	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152283285G>A	ENST00000368799.1	-	3	4112	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1359	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)			GCTGGTGGCGGGATCCATGTC	0.542									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.(4075-4077)tcC>tcT		filaggrin							374.0	354.0	360.0					1																	152283285		2203	4298	6501	SO:0001819	synonymous_variant	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.chr1:152283285G>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.4077C>T	1.37:g.152283285G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1359S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4112	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1359			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4077C>T	CCDS30860.1																																																																																				0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		93	324	0	0	0	1	0	93	324				
KIAA1210	57481	broad.mit.edu	37	X	118281447	118281447	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118281447C>T	ENST00000402510.2	-	2	398	c.399G>A	c.(397-399)caG>caA	p.Q133Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	133										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTCCTGAATCCTGTTCTTGGA	0.502																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(397-399)caG>caA		KIAA1210							94.0	85.0	88.0					X																	118281447		2004	4174	6178	SO:0001819	synonymous_variant	57481							g.chrX:118281447C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.399G>A	X.37:g.118281447C>T							p.Q133Q	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			2	398	-			133					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.399G>A	CCDS48156.1																																																																																				0.502	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		20	26	0	0	0	1	0	20	26				
SLC1A2	6506	broad.mit.edu	37	11	35323144	35323144	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:35323144C>T	ENST00000278379.3	-	6	1061	c.779G>A	c.(778-780)gGa>gAa	p.G260E	SLC1A2_ENST00000395750.1_Missense_Mutation_p.G251E|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G260E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G251E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	260					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGCCTGATCTCCCATCTTCCC	0.378																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(778-780)gGa>gAa		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						152.0	127.0	135.0					11																	35323144		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35323144C>T	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.779G>A	11.37:g.35323144C>T	ENSP00000278379:p.Gly260Glu					SLC1A2_ENST00000606205.1_Missense_Mutation_p.G260E|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G251E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G251E	p.G260E	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		6	1061	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	260					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.779G>A	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765720	0.90020	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.60672	0.17;0.17;0.17	5.24	5.24	0.73138	.	0.048969	0.85682	D	0.000000	T	0.78470	0.4288	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.87578	0.927;0.998	T	0.81189	-0.1046	10	0.66056	D	0.02	-11.0703	18.8208	0.92096	0.0:1.0:0.0:0.0	.	260;260	B4DQE9;P43004	.;EAA2_HUMAN	E	260;251;251	ENSP00000278379:G260E;ENSP00000379099:G251E;ENSP00000379102:G251E	ENSP00000278379:G260E	G	-	2	0	SLC1A2	35279720	1.000000	0.71417	0.965000	0.40720	0.926000	0.56050	7.758000	0.85224	2.457000	0.83068	0.491000	0.48974	GGA		0.378	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		24	37	0	0	0	1	0	24	37				
PLEC	5339	broad.mit.edu	37	8	145001681	145001681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145001681G>A	ENST00000322810.4	-	27	4233	c.4064C>T	c.(4063-4065)cCc>cTc	p.P1355L	PLEC_ENST00000356346.3_Missense_Mutation_p.P1204L|PLEC_ENST00000354958.2_Missense_Mutation_p.P1196L|PLEC_ENST00000527096.1_Missense_Mutation_p.P1241L|PLEC_ENST00000354589.3_Missense_Mutation_p.P1218L|PLEC_ENST00000436759.2_Missense_Mutation_p.P1245L|PLEC_ENST00000398774.2_Missense_Mutation_p.P1186L|PLEC_ENST00000357649.2_Missense_Mutation_p.P1222L|PLEC_ENST00000345136.3_Missense_Mutation_p.P1218L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1355	Globular 1.				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						GGCGCCCAAGGGGTCTGCACT	0.716																																						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.(4063-4065)cCc>cTc		plectin							9.0	10.0	10.0					8																	145001681		1899	3994	5893	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001681G>A	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.4064C>T	8.37:g.145001681G>A	ENSP00000323856:p.Pro1355Leu					PLEC_ENST00000527096.1_Missense_Mutation_p.P1241L|PLEC_ENST00000345136.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354589.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354958.2_Missense_Mutation_p.P1196L|PLEC_ENST00000356346.3_Missense_Mutation_p.P1204L|PLEC_ENST00000357649.2_Missense_Mutation_p.P1222L|PLEC_ENST00000436759.2_Missense_Mutation_p.P1245L|PLEC_ENST00000398774.2_Missense_Mutation_p.P1186L	p.P1355L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4233	-			1355			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4064C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.866	0.948035	0.18356	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.1	5.1	0.69264	.	0.195807	0.35970	U	0.002875	T	0.31136	0.0787	L	0.38175	1.15	0.42195	D	0.991746	B;B;B;B;B;B;B;B	0.23442	0.082;0.082;0.082;0.085;0.082;0.082;0.082;0.082	B;B;B;B;B;B;B;B	0.25140	0.058;0.058;0.058;0.026;0.058;0.058;0.058;0.058	T	0.11842	-1.0571	10	0.54805	T	0.06	.	13.4089	0.60931	0.0:0.2864:0.7136:0.0	.	1245;1204;1196;1355;1186;1218;1222;1218	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	1218;1222;1218;1186;1355;1196;1204;1245;1241	ENSP00000344848:P1218L;ENSP00000350277:P1222L;ENSP00000346602:P1218L;ENSP00000381756:P1186L;ENSP00000323856:P1355L;ENSP00000347044:P1196L;ENSP00000348702:P1204L;ENSP00000388180:P1245L;ENSP00000434583:P1241L	ENSP00000323856:P1355L	P	-	2	0	PLEC	145073669	0.519000	0.26242	0.239000	0.24122	0.243000	0.25628	0.917000	0.28665	2.358000	0.79984	0.501000	0.49751	CCC		0.716	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		11	14	0	0	0	1	0	11	14				
PNPLA5	150379	broad.mit.edu	37	22	44286942	44286942	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44286942C>T	ENST00000597664.1	-	2	555	c.426G>A	c.(424-426)caG>caA	p.Q142Q	PNPLA5_ENST00000216177.4_Splice_Site_p.Q142Q|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000593866.1_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	142	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCCCACACCTGGATGAGCT	0.652																																						ENST00000216177.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16						c.e2+1		patatin-like phospholipase domain containing 5							20.0	20.0	20.0					22																	44286942		2194	4290	6484	SO:0001630	splice_region_variant	150379				lipid catabolic process		hydrolase activity	g.chr22:44286942C>T	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.426+1G>A	22.37:g.44286942C>T						PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Splice_Site_p.Q142_splice|PNPLA5_ENST00000593866.1_Intron	p.Q142_splice	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN			2	558	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	142			Patatin.		B1AHL8|B3KPR1|Q6ZST0	Splice_Site	SNP	ENST00000597664.1	37	c.426_splice																																																																																					0.652	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814	Silent	8	13	0	0	0	1	0	8	13				
GBP4	115361	broad.mit.edu	37	1	89657044	89657044	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:89657044C>T	ENST00000355754.6	-	6	913	c.816G>A	c.(814-816)ctG>ctA	p.L272L		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	272	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AATGCCTTTCCAGATTTTCTT	0.418																																						ENST00000355754.6																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33						c.(814-816)ctG>ctA		guanylate binding protein 4							127.0	127.0	127.0					1																	89657044		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89657044C>T	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.816G>A	1.37:g.89657044C>T							p.L272L	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	913	-			272					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.816G>A	CCDS721.1																																																																																				0.418	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		18	53	0	0	0	1	0	18	53				
GPAM	57678	broad.mit.edu	37	10	113924290	113924290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:113924290G>A	ENST00000348367.4	-	13	1497	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	GPAM_ENST00000423155.1_Missense_Mutation_p.P434S|GPAM_ENST00000369425.1_Missense_Mutation_p.P434S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	434					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TACCTTGAAGGAAGTATAGCT	0.358																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1300-1302)Cct>Tct		glycerol-3-phosphate acyltransferase, mitochondrial							64.0	65.0	65.0					10																	113924290		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113924290G>A	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1300C>T	10.37:g.113924290G>A	ENSP00000265276:p.Pro434Ser					GPAM_ENST00000423155.1_Missense_Mutation_p.P434S|GPAM_ENST00000369425.1_Missense_Mutation_p.P434S	p.P434S			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	13	1497	-			434					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.1300C>T	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912569	0.17907	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.69040	-0.37;-0.37;-0.36	5.25	5.25	0.73442	.	0.056493	0.64402	D	0.000001	T	0.45558	0.1348	N	0.03177	-0.4	0.46499	D	0.999077	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.001	T	0.37842	-0.9688	10	0.34782	T	0.22	-17.0044	17.0238	0.86440	0.0:0.0:1.0:0.0	.	434;434	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	S	434	ENSP00000265276:P434S;ENSP00000409242:P434S;ENSP00000358433:P434S	ENSP00000265276:P434S	P	-	1	0	GPAM	113914280	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.405000	0.59741	2.432000	0.82394	0.643000	0.83706	CCT		0.358	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		17	21	0	0	0	1	0	17	21				
MAP3K15	389840	broad.mit.edu	37	X	19443774	19443774	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19443774C>T	ENST00000338883.4	-	9	1313	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.G270G|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	438							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTCCAAGCTCCCTTTTCTTC	0.443																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1312-1314)ggG>ggA		mitogen-activated protein kinase kinase kinase 15							83.0	63.0	69.0					X																	19443774		1568	3582	5150	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19443774C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1314G>A	X.37:g.19443774C>T						MAP3K15_ENST00000469203.2_Silent_p.G270G|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR	p.G438G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			9	1313	-	Hepatocellular(33;0.183)		438					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.1314G>A																																																																																					0.443	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		14	9	0	0	0	1	0	14	9				
LRRC49	54839	broad.mit.edu	37	15	71329518	71329518	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:71329518G>A	ENST00000260382.5	+	15	1964	c.1704G>A	c.(1702-1704)agG>agA	p.R568R	LRRC49_ENST00000443425.2_Splice_Site_p.R524R|LRRC49_ENST00000544974.2_Splice_Site_p.R558R|LRRC49_ENST00000560158.2_Splice_Site_p.R256R|LRRC49_ENST00000560369.1_Splice_Site_p.R573R|LRRC49_ENST00000560691.1_Splice_Site_p.R274R|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	568						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTTCTACAGGAAAAAGCAAT	0.308																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.e15-1		leucine rich repeat containing 49							67.0	74.0	71.0					15																	71329518		2198	4293	6491	SO:0001630	splice_region_variant	54839					cytoplasm|microtubule		g.chr15:71329518G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1704-1G>A	15.37:g.71329518G>A						LRRC49_ENST00000560158.2_Splice_Site_p.R256_splice|LRRC49_ENST00000560691.1_Splice_Site_p.R274_splice|LRRC49_ENST00000443425.2_Splice_Site_p.R524_splice|LRRC49_ENST00000560369.1_Splice_Site_p.R573_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.R558_splice	p.R568_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			15	1964	+			568					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Splice_Site	SNP	ENST00000260382.5	37	c.1703_splice	CCDS32282.1																																																																																				0.308	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691	Silent	32	63	0	0	0	1	0	32	63				
ZNF384	171017	broad.mit.edu	37	12	6776966	6776966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:6776966G>A	ENST00000396801.3	-	11	1855	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.P489S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	550					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GTCTTATACGGGGTCAGGTCA	0.622			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(1465-1467)Ccg>Tcg		zinc finger protein 384							135.0	133.0	134.0					12																	6776966		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6776966G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1648C>T	12.37:g.6776966G>A	ENSP00000380019:p.Pro550Ser					ZNF384_ENST00000396801.3_Missense_Mutation_p.P550S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S	p.P489S			Q8TF68	ZN384_HUMAN			9	1962	-			550			Ala-rich.|Gln-rich.		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1465C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074312	0.36566	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.08193	3.27;3.24;3.12;3.12;3.26;3.24	5.62	4.54	0.55810	.	0.131405	0.53938	D	0.000045	T	0.05502	0.0145	N	0.12182	0.205	0.44061	D	0.996804	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.43829	-0.9367	10	0.19590	T	0.45	-19.9632	15.4139	0.74948	0.0779:0.0:0.9221:0.0	.	550;434;473;489	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	S	473;489;550;550;434;489	ENSP00000321650:P473S;ENSP00000380013:P489S;ENSP00000380019:P550S;ENSP00000354592:P550S;ENSP00000348018:P434S;ENSP00000380017:P489S	ENSP00000321650:P473S	P	-	1	0	ZNF384	6647227	1.000000	0.71417	0.968000	0.41197	0.927000	0.56198	7.478000	0.81082	2.647000	0.89833	0.591000	0.81541	CCG		0.622	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			83	125	0	0	0	1	0	83	125				
CYLC1	1538	broad.mit.edu	37	X	83129261	83129261	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:83129261G>A	ENST00000329312.4	+	4	1582	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	515					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGCAAGAAAGGACACAGAGT	0.353																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1543-1545)aaG>aaA		cylicin, basic protein of sperm head cytoskeleton 1							88.0	77.0	81.0					X																	83129261		2201	4299	6500	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129261G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1545G>A	X.37:g.83129261G>A							p.K515K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1582	+			515					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.1545G>A	CCDS35341.1																																																																																				0.353	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		19	31	0	0	0	1	0	19	31				
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14534953C>T	ENST00000358970.5	-	4	863	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(862-864)gtG>gtA		POTE ankyrin domain family, member C							45.0	39.0	41.0					18																	14534953		692	1578	2270	SO:0001819	synonymous_variant	388468							g.chr18:14534953C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.864G>A	18.37:g.14534953C>T						POTEC_ENST00000389891.4_5'UTR	p.V288V	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			4	863	-			288						Silent	SNP	ENST00000358970.5	37	c.864G>A	CCDS45835.1																																																																																				0.299	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		18	60	0	0	0	1	0	18	60				
C2orf16	84226	broad.mit.edu	37	2	27802342	27802342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27802342G>A	ENST00000408964.2	+	1	2954	c.2903G>A	c.(2902-2904)gGt>gAt	p.G968D	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	968						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTTTATCATGGTCATAAGAAA	0.418																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(2902-2904)gGt>gAt		chromosome 2 open reading frame 16							89.0	84.0	86.0					2																	27802342		1881	4100	5981	SO:0001583	missense	84226							g.chr2:27802342G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2903G>A	2.37:g.27802342G>A	ENSP00000386190:p.Gly968Asp						p.G968D	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	2954	+	Acute lymphoblastic leukemia(172;0.155)		968					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.2903G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227690	0.22542	.	.	ENSG00000221843	ENST00000408964	T	0.07908	3.15	5.65	2.57	0.30868	.	.	.	.	.	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B	0.33448	0.412	B	0.32583	0.148	T	0.35151	-0.9800	9	0.72032	D	0.01	.	6.1315	0.20207	0.1765:0.0:0.6624:0.161	.	968	Q68DN1	CB016_HUMAN	D	968	ENSP00000386190:G968D	ENSP00000386190:G968D	G	+	2	0	C2orf16	27655846	0.004000	0.15560	0.002000	0.10522	0.137000	0.21094	0.764000	0.26532	0.751000	0.32900	0.591000	0.81541	GGT		0.418	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	50	0	0	0	1	0	18	50				
ATP2B3	492	broad.mit.edu	37	X	152830499	152830499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152830499G>A	ENST00000349466.2	+	20	3606	c.3280G>A	c.(3280-3282)Gag>Aag	p.E1094K	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1094K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1080K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1094K|ATP2B3_ENST00000370186.1_Missense_Mutation_p.E1080K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1080K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1094					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E1094Q(3)|p.E1080Q(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACCATGCCGAGCGGGAGCT	0.672																																						ENST00000370186.1																			4	Substitution - Missense(4)	p.E1094Q(3)|p.E1080Q(1)	breast(4)	NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3238-3240)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 3							21.0	21.0	21.0					X																	152830499		2197	4296	6493	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152830499G>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3280G>A	X.37:g.152830499G>A	ENSP00000343886:p.Glu1094Lys					ATP2B3_ENST00000349466.2_Missense_Mutation_p.E1094K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1080K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1094K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1094K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1080K	p.E1080K			Q16720	AT2B3_HUMAN			19	3564	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1094					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.3238G>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141982	0.94560	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.94138	-3.34;-3.36;-3.35;-3.36;-3.36;-3.34	4.63	4.63	0.57726	.	0.134831	0.51477	D	0.000093	D	0.96191	0.8758	M	0.73962	2.25	0.54753	D	0.999987	D;P;P;P	0.89917	1.0;0.522;0.874;0.849	D;B;B;P	0.79108	0.992;0.346;0.109;0.566	D	0.96255	0.9186	10	0.51188	T	0.08	-20.0947	15.7403	0.77891	0.0:0.0:1.0:0.0	.	1080;1080;1094;1094	Q16720-3;Q16720-4;Q16720;Q16720-2	.;.;AT2B3_HUMAN;.	K	1080;1094;1080;1094;1094;1080	ENSP00000359205:E1080K;ENSP00000343886:E1094K;ENSP00000377425:E1080K;ENSP00000352062:E1094K;ENSP00000263519:E1094K;ENSP00000359200:E1080K	ENSP00000263519:E1094K	E	+	1	0	ATP2B3	152483693	1.000000	0.71417	0.999000	0.59377	0.832000	0.47134	9.809000	0.99208	2.047000	0.60756	0.586000	0.80456	GAG		0.672	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		8	10	0	0	0	1	0	8	10				
NPHS1	4868	broad.mit.edu	37	19	36338958	36338958	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36338958G>A	ENST00000378910.5	-	11	1424	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	NPHS1_ENST00000353632.6_Silent_p.S475S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	475	Ig-like C2-type 5.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACCACATGAGGGAGGGCTCTG	0.622																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1423-1425)tcC>tcT		nephrosis 1, congenital, Finnish type (nephrin)							32.0	38.0	36.0					19																	36338958		2203	4299	6502	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36338958G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1425C>T	19.37:g.36338958G>A						NPHS1_ENST00000353632.6_Silent_p.S475S	p.S475S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		11	1424	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		475			Ig-like C2-type 5.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.1425C>T	CCDS32996.1																																																																																				0.622	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			29	39	0	0	0	1	0	29	39				
IGSF9B	22997	broad.mit.edu	37	11	133801414	133801414	+	Silent	SNP	G	G	A	rs558372754		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:133801414G>A	ENST00000321016.8	-	10	1532	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	IGSF9B_ENST00000533871.2_Silent_p.A434A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	434	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCCCGGCCGGCCTCCTGCC	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15847	0.0		0.0	False		,,,				2504	0.0					ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1300-1302)gcC>gcT		immunoglobulin superfamily, member 9B							31.0	37.0	35.0					11																	133801414		1913	4109	6022	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133801414G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1302C>T	11.37:g.133801414G>A						IGSF9B_ENST00000533871.2_Silent_p.A434A	p.A434A			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	10	1532	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	434			Ig-like 5.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.1302C>T																																																																																					0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		34	41	0	0	0	1	0	34	41				
VWA1	64856	broad.mit.edu	37	1	1372443	1372443	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1372443C>T	ENST00000476993.1	+	2	288	c.210C>T	c.(208-210)gcC>gcT	p.A70A	VWA1_ENST00000338660.5_Intron|RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	70	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCACCGGGGCCCTGCGTGCCA	0.672																																						ENST00000476993.1																			0				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(208-210)gcC>gcT		von Willebrand factor A domain containing 1							34.0	34.0	34.0					1																	1372443		2198	4294	6492	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1372443C>T	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.210C>T	1.37:g.1372443C>T						VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	p.A70A	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	288	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	70			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.210C>T	CCDS27.1																																																																																				0.672	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		12	22	0	0	0	1	0	12	22				
MBOAT2	129642	broad.mit.edu	37	2	9022664	9022664	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:9022664G>A	ENST00000305997.3	-	6	681	c.483C>T	c.(481-483)tcC>tcT	p.S161S	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	161					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCTCTGTGAGGAAGTCAGTT	0.483																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(481-483)tcC>tcT		membrane bound O-acyltransferase domain containing 2							148.0	116.0	127.0					2																	9022664		2203	4300	6503	SO:0001819	synonymous_variant	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9022664G>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.483C>T	2.37:g.9022664G>A						MBOAT2_ENST00000486484.1_5'UTR	p.S161S	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			6	681	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		161					A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	ENST00000305997.3	37	c.483C>T	CCDS1660.1																																																																																				0.483	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		20	27	0	0	0	1	0	20	27				
TNS3	64759	broad.mit.edu	37	7	47408308	47408308	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:47408308C>T	ENST00000398879.1	-	17	2301	c.1935G>A	c.(1933-1935)agG>agA	p.R645R	TNS3_ENST00000311160.9_Silent_p.R645R|TNS3_ENST00000355730.3_Silent_p.R405R			Q68CZ2	TENS3_HUMAN	tensin 3	645					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCCTACACCCCTCTGGACAG	0.642																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1933-1935)agG>agA		tensin 3							57.0	67.0	63.0					7																	47408308		2068	4194	6262	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47408308C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1935G>A	7.37:g.47408308C>T						TNS3_ENST00000355730.3_Silent_p.R405R|TNS3_ENST00000311160.9_Silent_p.R645R	p.R645R			Q68CZ2	TENS3_HUMAN			17	2301	-			645					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1935G>A	CCDS5506.2																																																																																				0.642	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		82	77	0	0	0	1	0	82	77				
CBX1	10951	broad.mit.edu	37	17	46148855	46148855	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46148855C>T	ENST00000393408.3	-	5	980	c.500G>A	c.(499-501)aGg>aAg	p.R167K	CBX1_ENST00000225603.4_Missense_Mutation_p.R167K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	167	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CCACGTCAGCCTTTCCTCATA	0.498																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(499-501)aGg>aAg		chromobox homolog 1							115.0	91.0	99.0					17																	46148855		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46148855C>T	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.500G>A	17.37:g.46148855C>T	ENSP00000377060:p.Arg167Lys					CBX1_ENST00000225603.4_Missense_Mutation_p.R167K	p.R167K	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			5	980	-			167			Chromo 2; shadow subtype.		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.500G>A	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146594	0.94603	.	.	ENSG00000108468	ENST00000225603;ENST00000393408	.	.	.	5.24	5.24	0.73138	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.64402	U	0.000001	T	0.79381	0.4436	M	0.79343	2.45	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.78730	-0.2090	9	0.41790	T	0.15	-9.1379	18.0139	0.89232	0.0:1.0:0.0:0.0	.	167	P83916	CBX1_HUMAN	K	167	.	ENSP00000225603:R167K	R	-	2	0	CBX1	43503854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.594000	0.82698	2.636000	0.89361	0.556000	0.70494	AGG		0.498	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		28	44	0	0	0	1	0	28	44				
C2	717	broad.mit.edu	37	6	31910823	31910823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:31910823C>T	ENST00000299367.5	+	10	1583	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	CFB_ENST00000425368.2_5'Flank|C2_ENST00000469372.1_Missense_Mutation_p.A190V|C2_ENST00000452323.2_Missense_Mutation_p.A222V|C2_ENST00000442278.2_Missense_Mutation_p.A304V|CFB_ENST00000556679.1_Missense_Mutation_p.A283V|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.A283V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	436	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGAGGCATGCCTTCATTCTG	0.552																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(847-849)gCc>gTc		complement factor B							325.0	335.0	332.0					6																	31910823		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31910823C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1307C>T	6.37:g.31910823C>T	ENSP00000299367:p.Ala436Val					CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.A436V|CFB_ENST00000556679.1_Missense_Mutation_p.A283V|C2_ENST00000469372.1_Missense_Mutation_p.A190V|C2_ENST00000442278.2_Missense_Mutation_p.A304V|C2_ENST00000452323.2_Missense_Mutation_p.A222V	p.A283V			P00751	CFAB_HUMAN			7	903	+			452			VWFA.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.848C>T	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.60|19.60	3.858860|3.858860	0.71834|0.71834	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570|ENST00000383177	T;T;T;T;T;T;T|.	0.75367|.	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93|.	5.71|5.71	5.71|5.71	0.89125|0.89125	von Willebrand factor, type A (3);|.	0.000000|.	0.39146|.	N|.	0.001447|.	T|T	0.40862|0.40862	0.1134|0.1134	N|N	0.20685|0.20685	0.6|0.6	0.41585|0.41585	D|D	0.988766|0.988766	D;D;D;D;D;D;D;P;D|.	0.89917|.	1.0;0.999;0.992;0.995;0.998;0.997;0.999;0.559;1.0|.	D;P;P;P;P;P;P;B;D|.	0.91635|.	0.999;0.886;0.641;0.613;0.747;0.579;0.886;0.058;0.93|.	T|T	0.31861|0.31861	-0.9928|-0.9928	10|5	0.02654|.	T|.	1|.	-27.7973|-27.7973	16.7612|16.7612	0.85512|0.85512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	283;407;222;190;304;121;304;436;223|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	V|S	190;223;223;222;436;121;304;283;283|210	ENSP00000418923:A190V;ENSP00000417482:A223V;ENSP00000392322:A222V;ENSP00000299367:A436V;ENSP00000395683:A304V;ENSP00000451848:A283V;ENSP00000410815:A283V|.	ENSP00000299367:A436V|.	A|P	+|+	2|1	0|0	CFB;C2;XXbac-BPG116M5.17|C2	32018802|32018802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.268000|3.268000	0.51585|0.51585	2.701000|2.701000	0.92244|0.92244	0.455000|0.455000	0.32223|0.32223	GCC|CCT		0.552	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			89	73	0	0	0	1	0	89	73				
DAPK3	1613	broad.mit.edu	37	19	3964740	3964740	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3964740G>A	ENST00000545797.2	-	3	555	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK3_ENST00000301264.3_Silent_p.F104F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCGCCAGGAAGTCAAAGA	0.597																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(310-312)ttC>ttT		death-associated protein kinase 3							105.0	104.0	104.0					19																	3964740		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964740G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.312C>T	19.37:g.3964740G>A						DAPK3_ENST00000301264.3_Silent_p.F104F	p.F104F			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	555	-		Hepatocellular(1079;0.137)	104			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.312C>T	CCDS12116.1																																																																																				0.597	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		38	19	0	0	0	1	0	38	19				
IQUB	154865	broad.mit.edu	37	7	123101505	123101505	+	Missense_Mutation	SNP	C	C	T	rs60409072	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:123101505C>T	ENST00000466202.1	-	11	2489	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.R638Q	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	638					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAATGATTCTCGTTTTTGAGC	0.378													C|||	18	0.00359425	0.0121	0.0029	5008	,	,		18314	0.0		0.0	False		,,,				2504	0.0					ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1912-1914)cGa>cAa		IQ motif and ubiquitin domain containing		C	GLN/ARG	41,4365	44.6+/-78.6	0,41,2162	104.0	101.0	102.0		1913	5.9	1.0	7	dbSNP_129	102	0,8598		0,0,4299	yes	missense	IQUB	NM_178827.4	43	0,41,6461	TT,TC,CC		0.0,0.9305,0.3153	probably-damaging	638/792	123101505	41,12963	2203	4299	6502	SO:0001583	missense	154865							g.chr7:123101505C>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1913G>A	7.37:g.123101505C>T	ENSP00000417769:p.Arg638Gln					IQUB_ENST00000324698.6_Missense_Mutation_p.R638Q	p.R638Q			Q8NA54	IQUB_HUMAN			11	2489	-			638					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.1913G>A	CCDS5787.1	6	0.0027472527472527475	5	0.01016260162601626	1	0.0027624309392265192	0	0.0	0	0.0	C	34	5.317301	0.95682	0.009305	0.0	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.34275	1.37;1.37	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.64676	-0.6351	10	0.72032	D	0.01	.	20.36	0.98855	0.0:1.0:0.0:0.0	rs60409072	638	Q8NA54	IQUB_HUMAN	Q	638	ENSP00000417769:R638Q;ENSP00000324882:R638Q	ENSP00000324882:R638Q	R	-	2	0	IQUB	122888741	1.000000	0.71417	0.986000	0.45419	0.900000	0.52787	4.901000	0.63259	2.817000	0.96982	0.643000	0.83706	CGA		0.378	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		36	45	0	0	0	1	0	36	45				
SLITRK6	84189	broad.mit.edu	37	13	86368630	86368630	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:86368630T>A	ENST00000400286.2	-	2	2612	c.2014A>T	c.(2014-2016)Aga>Tga	p.R672*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	672					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCAGAGGGTCTTTCAGTAGTG	0.438																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2014-2016)Aga>Tga		SLIT and NTRK-like family, member 6							215.0	206.0	209.0					13																	86368630		2001	4158	6159	SO:0001587	stop_gained	84189					integral to membrane		g.chr13:86368630T>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2014A>T	13.37:g.86368630T>A	ENSP00000383143:p.Arg672*						p.R672*	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2612	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		672					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	c.2014A>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	42	9.768720	0.99259	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.84	1.75	0.24633	.	0.078936	0.47852	U	0.000214	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-13.6385	13.2402	0.59992	0.0:0.0:0.3563:0.6437	.	.	.	.	X	672	.	ENSP00000383143:R672X	R	-	1	2	SLITRK6	85266631	0.882000	0.30256	0.737000	0.30932	0.963000	0.63663	1.603000	0.36794	1.020000	0.39573	0.533000	0.62120	AGA		0.438	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		73	127	0	0	0	1	0	73	127				
PTCHD1	139411	broad.mit.edu	37	X	23353008	23353008	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:23353008C>T	ENST00000379361.4	+	1	876	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	6					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCGGCAGGTTCTGCACAGGGG	0.721																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(16-18)Ctg>Ttg		patched domain containing 1							9.0	12.0	11.0					X																	23353008		1978	4059	6037	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23353008C>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.16C>T	X.37:g.23353008C>T							p.L6L	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			1	876	+			6					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.16C>T	CCDS35215.2																																																																																				0.721	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		4	7	0	0	0	1	0	4	7				
C20orf195	79025	broad.mit.edu	37	20	62187585	62187585	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62187585C>T	ENST00000370098.3	+	2	661	c.569C>T	c.(568-570)tCt>tTt	p.S190F	C20orf195_ENST00000370097.1_Missense_Mutation_p.S190F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	190						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCTGGTGTCTGATGTCAGT	0.642																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(568-570)tCt>tTt		chromosome 20 open reading frame 195							78.0	79.0	79.0					20																	62187585		2203	4299	6502	SO:0001583	missense	79025							g.chr20:62187585C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.569C>T	20.37:g.62187585C>T	ENSP00000359116:p.Ser190Phe					C20orf195_ENST00000370097.1_Missense_Mutation_p.S190F	p.S190F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	661	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		190						Missense_Mutation	SNP	ENST00000370098.3	37	c.569C>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521024	0.44866	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.125660	0.36303	N	0.002668	T	0.65565	0.2703	L	0.29908	0.895	0.35404	D	0.791861	D	0.55385	0.971	P	0.60473	0.875	T	0.74179	-0.3749	9	0.87932	D	0	-18.1979	19.3082	0.94173	0.0:1.0:0.0:0.0	.	190	Q9BVV2	CT195_HUMAN	F	190	.	ENSP00000359115:S190F	S	+	2	0	C20orf195	61658029	1.000000	0.71417	0.987000	0.45799	0.077000	0.17291	5.577000	0.67444	2.573000	0.86826	0.655000	0.94253	TCT		0.642	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		52	94	0	0	0	1	0	52	94				
DHX8	1659	broad.mit.edu	37	17	41584468	41584468	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:41584468C>T	ENST00000262415.3	+	13	1898	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	DHX8_ENST00000540306.1_Missense_Mutation_p.S609F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	609	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTACACTTCCAGGGGCAAG	0.532																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1825-1827)tCc>tTc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							110.0	99.0	103.0					17																	41584468		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41584468C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1826C>T	17.37:g.41584468C>T	ENSP00000262415:p.Ser609Phe					DHX8_ENST00000540306.1_Missense_Mutation_p.S609F	p.S609F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	13	1898	+		Breast(137;0.00908)	609			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000262415.3	37	c.1826C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711491	0.48517	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.08193	3.12;3.12	5.45	5.45	0.79879	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.242548	0.40385	N	0.001113	T	0.17662	0.0424	M	0.81341	2.54	0.45648	D	0.998576	B;B	0.16166	0.016;0.013	B;B	0.23852	0.018;0.049	T	0.01824	-1.1266	10	0.52906	T	0.07	.	18.2643	0.90048	0.0:1.0:0.0:0.0	.	609;609	F5H658;Q14562	.;DHX8_HUMAN	F	609	ENSP00000437886:S609F;ENSP00000262415:S609F	ENSP00000262415:S609F	S	+	2	0	DHX8	38939994	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	5.963000	0.70372	2.561000	0.86390	0.655000	0.94253	TCC		0.532	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			51	64	0	0	0	1	0	51	64				
ARHGEF10	9639	broad.mit.edu	37	8	1808226	1808226	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1808226C>T	ENST00000398564.1	+	4	429	c.429C>T	c.(427-429)ctC>ctT	p.L143L	ARHGEF10_ENST00000520359.1_Silent_p.L119L|ARHGEF10_ENST00000349830.3_Silent_p.L119L|ARHGEF10_ENST00000398560.1_Silent_p.L143L|ARHGEF10_ENST00000262112.6_Silent_p.L143L|ARHGEF10_ENST00000518288.1_Silent_p.L143L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	143					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGTGGGTCTCCATGTGCCCT	0.627																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(427-429)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 10							149.0	124.0	133.0					8																	1808226		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808226C>T	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.429C>T	8.37:g.1808226C>T						ARHGEF10_ENST00000398564.1_Silent_p.L143L|ARHGEF10_ENST00000349830.3_Silent_p.L119L|ARHGEF10_ENST00000262112.6_Silent_p.L143L|ARHGEF10_ENST00000520359.1_Silent_p.L119L|ARHGEF10_ENST00000398560.1_Silent_p.L143L	p.L143L			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	5	592	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	143					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.429C>T																																																																																					0.627	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				28	36	0	0	0	1	0	28	36				
ZSCAN21	7589	broad.mit.edu	37	7	99654656	99654656	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654656C>T	ENST00000292450.4	+	2	191	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ZSCAN21_ENST00000543588.1_Silent_p.A9A|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Silent_p.A9A	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TAGGCATGGCCCCAGTTCTGG	0.527																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(25-27)gcC>gcT		zinc finger and SCAN domain containing 21							151.0	164.0	159.0					7																	99654656		2203	4300	6503	SO:0001819	synonymous_variant	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654656C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.27C>T	7.37:g.99654656C>T						ZSCAN21_ENST00000456748.2_Silent_p.A9A|ZSCAN21_ENST00000543588.1_Silent_p.A9A|ZSCAN21_ENST00000477297.1_3'UTR	p.A9A	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	191	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		9					A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	ENST00000292450.4	37	c.27C>T	CCDS5681.1																																																																																				0.527	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		74	172	0	0	0	1	0	74	172				
TSGA10	80705	broad.mit.edu	37	2	99681424	99681424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:99681424G>A	ENST00000393483.3	-	16	2226	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	TSGA10_ENST00000539964.1_Missense_Mutation_p.S461F|TSGA10_ENST00000410001.1_Missense_Mutation_p.S461F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S461F|TSGA10_ENST00000478090.1_5'UTR	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	461					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTGTTGAGGGAATCTACTTT	0.358																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(1381-1383)tCc>tTc		testis specific, 10							138.0	131.0	133.0					2																	99681424		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99681424G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1382C>T	2.37:g.99681424G>A	ENSP00000377123:p.Ser461Phe					TSGA10_ENST00000410001.1_Missense_Mutation_p.S461F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S461F|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.S461F	p.S461F	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			16	2226	-			461					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.1382C>T	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067191	0.36470	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.78481	2.41;2.41;2.41;2.41;-1.18;2.41	5.3	5.3	0.74995	.	0.700274	0.13306	N	0.397836	T	0.74512	0.3726	L	0.29908	0.895	0.80722	D	1	P	0.39883	0.693	B	0.43783	0.431	T	0.74887	-0.3511	10	0.56958	D	0.05	1.1576	16.4811	0.84158	0.0:0.0:1.0:0.0	.	461	Q9BZW7	TSG10_HUMAN	F	461	ENSP00000377123:S461F;ENSP00000386956:S461F;ENSP00000347161:S461F;ENSP00000444419:S461F;ENSP00000386508:S461F;ENSP00000377122:S461F	ENSP00000347161:S461F	S	-	2	0	TSGA10	99047856	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	6.093000	0.71422	2.767000	0.95098	0.585000	0.79938	TCC		0.358	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		24	23	0	0	0	1	0	24	23				
ARHGAP20	57569	broad.mit.edu	37	11	110454415	110454415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:110454415G>A	ENST00000260283.4	-	14	1746	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L462F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L465F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.L31F|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L462F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	488	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACCCCAAAAAGATACCTTAGG	0.388																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(1462-1464)Ctt>Ttt		Rho GTPase activating protein 20							115.0	97.0	103.0					11																	110454415		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110454415G>A	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1462C>T	11.37:g.110454415G>A	ENSP00000260283:p.Leu488Phe					ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L462F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.L31F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L465F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L462F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L452F	p.L488F	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	14	1746	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	488			Rho-GAP.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.1462C>T	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556629	0.65425	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.46819	1.03;1.03;0.86;1.03;1.03;1.03;1.03	5.35	5.35	0.76521	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.083260	0.49305	D	0.000151	T	0.64583	0.2611	M	0.77486	2.375	0.39568	D	0.969234	D;D;D	0.89917	1.0;0.995;0.994	D;D;D	0.79784	0.993;0.979;0.965	T	0.64769	-0.6329	10	0.32370	T	0.25	.	8.768	0.34715	0.0776:0.0:0.7617:0.1607	.	462;488;465	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	F	488;462;31;465;452;462;452	ENSP00000260283:L488F;ENSP00000349660:L462F;ENSP00000437905:L31F;ENSP00000432076:L465F;ENSP00000436319:L452F;ENSP00000436522:L462F;ENSP00000431399:L452F	ENSP00000260283:L488F	L	-	1	0	ARHGAP20	109959625	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.657000	0.37366	2.668000	0.90789	0.591000	0.81541	CTT		0.388	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		14	18	0	0	0	1	0	14	18				
MKLN1	4289	broad.mit.edu	37	7	131128280	131128280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131128280G>A	ENST00000352689.6	+	11	1254	c.1214G>A	c.(1213-1215)gGt>gAt	p.G405D	MKLN1_ENST00000421797.2_Missense_Mutation_p.G313D	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	405					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TACACTTTTGGTGGTAGAATT	0.388																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1213-1215)gGt>gAt		muskelin 1, intracellular mediator containing kelch motifs							155.0	133.0	141.0					7																	131128280		2203	4300	6503	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131128280G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1214G>A	7.37:g.131128280G>A	ENSP00000323527:p.Gly405Asp					MKLN1_ENST00000421797.2_Missense_Mutation_p.G313D	p.G405D	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			11	1254	+	Melanoma(18;0.162)		405					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1214G>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208767	0.95069	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	D;D	0.82984	-1.67;-1.67	5.86	5.86	0.93980	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92883	0.7736	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.93474	0.6821	10	0.87932	D	0	-20.619	19.174	0.93594	0.0:0.0:1.0:0.0	.	405;382;313	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	D	313;405	ENSP00000398094:G313D;ENSP00000323527:G405D	ENSP00000323527:G405D	G	+	2	0	MKLN1	130778820	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.965000	0.87945	2.777000	0.95525	0.591000	0.81541	GGT		0.388	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		32	72	0	0	0	1	0	32	72				
SLC22A3	6581	broad.mit.edu	37	6	160828085	160828085	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160828085C>T	ENST00000275300.2	+	3	698	c.546C>T	c.(544-546)atC>atT	p.I182I	SLC22A3_ENST00000392145.1_Silent_p.I182I	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	182					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	ATGGCAGGATCGTCATTTACT	0.418																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(544-546)atC>atT		solute carrier family 22 (organic cation transporter), member 3							148.0	135.0	139.0					6																	160828085		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160828085C>T	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.546C>T	6.37:g.160828085C>T						SLC22A3_ENST00000275300.2_Silent_p.I182I	p.I182I			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	3	573	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	182					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.546C>T	CCDS5277.1																																																																																				0.418	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		28	19	0	0	0	1	0	28	19				
SLC25A43	203427	broad.mit.edu	37	X	118585997	118585997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118585997G>A	ENST00000217909.7	+	4	1060	c.716G>A	c.(715-717)aGt>aAt	p.S239N	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.Q181Q	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	239					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTCCCACACAGTGGAGGAGTA	0.532																																						ENST00000217909.7																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						c.(715-717)aGt>aAt		solute carrier family 25, member 43							66.0	67.0	67.0					X																	118585997		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118585997G>A	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.716G>A	X.37:g.118585997G>A	ENSP00000217909:p.Ser239Asn					SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.Q181Q	p.S239N	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN			4	1060	+			239					O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.716G>A	CCDS14577.1	.	.	.	.	.	.	.	.	.	.	G	1.223	-0.626429	0.03610	.	.	ENSG00000077713	ENST00000217909;ENST00000326714	T	0.79352	-1.26	5.37	-5.94	0.02247	Mitochondrial carrier domain (2);	.	.	.	.	T	0.58293	0.2112	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40136	-0.9579	9	0.18276	T	0.48	.	17.0511	0.86519	0.6827:0.0:0.3173:0.0	.	239	Q8WUT9	S2543_HUMAN	N	239;187	ENSP00000217909:S239N	ENSP00000217909:S239N	S	+	2	0	SLC25A43	118470025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.132000	0.10467	-1.561000	0.01684	-0.896000	0.02909	AGT		0.532	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		49	96	0	0	0	1	0	49	96				
ANKRD13D	338692	broad.mit.edu	37	11	67067492	67067492	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:67067492C>T	ENST00000447274.2	+	10	1885	c.710C>T	c.(709-711)aCc>aTc	p.T237I	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.T237I|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.T324I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.T237I|ANKRD13D_ENST00000515828.1_5'Flank			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	237						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCAGCCCCACCAACCCCACA	0.667																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(709-711)aCc>aTc		ankyrin repeat domain 13 family, member D							74.0	74.0	74.0					11																	67067492		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67067492C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.710C>T	11.37:g.67067492C>T	ENSP00000402616:p.Thr237Ile					ANKRD13D_ENST00000308440.6_Missense_Mutation_p.T237I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.T237I|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.T324I	p.T237I			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1885	+			237					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.710C>T		.	.	.	.	.	.	.	.	.	.	C	13.64	2.297153	0.40694	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	4.69	2.81	0.32909	.	0.242011	0.35772	N	0.002996	T	0.56441	0.1985	M	0.73962	2.25	0.40482	D	0.980458	D;P	0.58268	0.982;0.891	P;P	0.62885	0.908;0.511	T	0.54636	-0.8264	10	0.35671	T	0.21	-11.9108	9.0125	0.36150	0.1477:0.7739:0.0:0.0783	.	324;237	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	I	237;324;237;237	ENSP00000402616:T237I;ENSP00000427130:T324I;ENSP00000310874:T237I;ENSP00000444404:T237I	ENSP00000310874:T237I	T	+	2	0	ANKRD13D	66824068	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	5.970000	0.70431	0.587000	0.29643	-1.114000	0.02060	ACC		0.667	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		20	30	0	0	0	1	0	20	30				
RAB1A	5861	broad.mit.edu	37	2	65315800	65315800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:65315800G>A	ENST00000409784.3	-	6	635	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S|RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	149					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						TCCAAAAACGGAATTCCAAGG	0.393																																						ENST00000409784.3																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						c.(445-447)Ccg>Tcg		RAB1A, member RAS oncogene family							42.0	38.0	39.0					2																	65315800		1887	4133	6020	SO:0001583	missense	5861				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity	g.chr2:65315800G>A	M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.445C>T	2.37:g.65315800G>A	ENSP00000387286:p.Pro149Ser					RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S	p.P149S	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN			6	635	-			149					P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	ENST00000409784.3	37	c.445C>T	CCDS46306.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763303	0.49574	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000398529;ENST00000260638;ENST00000356214	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.45	5.45	0.79879	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	L	0.28649	0.875	0.80722	D	1	P;B;D;B	0.60575	0.94;0.039;0.988;0.201	P;B;D;B	0.75484	0.519;0.027;0.986;0.062	D	0.85970	0.1476	10	0.56958	D	0.05	.	19.6466	0.95778	0.0:0.0:1.0:0.0	.	117;85;73;149	B7Z8M7;P62820-2;P62820-3;P62820	.;.;.;RAB1A_HUMAN	S	149;85;117;73;73;117	ENSP00000387286:P149S;ENSP00000386451:P85S;ENSP00000386672:P117S;ENSP00000381540:P73S;ENSP00000260638:P73S;ENSP00000348546:P117S	ENSP00000260638:P73S	P	-	1	0	RAB1A	65169304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.809000	0.99208	2.690000	0.91761	0.557000	0.71058	CCG		0.393	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161		6	6	0	0	0	1	0	6	6				
CCM2L	140706	broad.mit.edu	37	20	30602763	30602763	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:30602763C>T	ENST00000300415.8	+	2	100	c.87C>T	c.(85-87)gcC>gcT	p.A29A	CCM2L_ENST00000262659.8_Silent_p.A29A			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	29																	GCCGGGCAGCCTGTAGGAGCA	0.622																																						ENST00000300415.8																			0											c.(85-87)gcC>gcT		cerebral cavernous malformation 2-like							70.0	74.0	73.0					20																	30602763		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30602763C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.87C>T	20.37:g.30602763C>T						CCM2L_ENST00000262659.8_Silent_p.A29A	p.A29A							2	100	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.87C>T																																																																																					0.622	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		63	96	0	0	0	1	0	63	96				
ZNF687	57592	broad.mit.edu	37	1	151261020	151261020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151261020C>T	ENST00000368879.2	+	3	2230	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAACCTGCCCCATGATGCTC	0.567																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2131-2133)cCc>cTc		zinc finger protein 687							86.0	78.0	81.0					1																	151261020		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261020C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2132C>T	1.37:g.151261020C>T	ENSP00000357874:p.Pro711Leu						p.P711L	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	2230	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		711					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.2132C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.225832|4.225832	0.79576|0.79576	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|T	0.28895|0.27104	1.59;1.59;1.59|1.69	5.25|5.25	4.33|4.33	0.51752|0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);|.	0.000000|0.000000	0.35096|0.35096	N|N	0.003446|0.003446	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.948|.	T|T	0.01743|0.01743	-1.1283|-1.1283	10|8	0.45353|0.46703	T|T	0.12|0.11	.|.	14.2577|14.2577	0.66062|0.66062	0.1504:0.8496:0.0:0.0|0.1504:0.8496:0.0:0.0	.|.	711;711|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	L|S	711|314	ENSP00000336620:P711L;ENSP00000319829:P711L;ENSP00000357874:P711L|ENSP00000398821:P314S	ENSP00000319829:P711L|ENSP00000398821:P314S	P|P	+|+	2|1	0|0	ZNF687|ZNF687	149527644|149527644	0.866000|0.866000	0.29940|0.29940	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	0.881000|0.881000	0.28173|0.28173	1.444000|1.444000	0.47605|0.47605	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.567	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		8	50	0	0	0	1	0	8	50				
SLC27A4	10999	broad.mit.edu	37	9	131117375	131117375	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131117375C>T	ENST00000300456.4	+	10	1485	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	456					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						AGAAAGACCCCCTGCGCCGCT	0.627																																					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.(1366-1368)ccC>ccT		solute carrier family 27 (fatty acid transporter), member 4							32.0	31.0	31.0					9																	131117375		2203	4300	6503	SO:0001819	synonymous_variant	10999				long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	g.chr9:131117375C>T	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.1368C>T	9.37:g.131117375C>T						SLC27A4_ENST00000372870.1_Intron	p.P456P	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN			10	1485	+			456					A8K2F7|O95186|Q96G53	Silent	SNP	ENST00000300456.4	37	c.1368C>T	CCDS6899.1																																																																																				0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054432.2			18	5	0	0	0	1	0	18	5				
PNPLA7	375775	broad.mit.edu	37	9	140391670	140391670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140391670C>T	ENST00000277531.4	-	17	2093	c.1907G>A	c.(1906-1908)gGg>gAg	p.G636E	PNPLA7_ENST00000406427.1_Missense_Mutation_p.G661E|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242E	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	636					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGTACTCCCCGGCCAGGCG	0.667																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1981-1983)gGg>gAg		patatin-like phospholipase domain containing 7							30.0	30.0	30.0					9																	140391670		2193	4290	6483	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140391670C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1907G>A	9.37:g.140391670C>T	ENSP00000277531:p.Gly636Glu					PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636E|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242E	p.G661E	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	18	2318	-	all_cancers(76;0.126)		636					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.1982G>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490060	0.64074	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.53	3.56	0.40772	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.057170	0.64402	D	0.000001	D	0.94407	0.8201	L	0.58969	1.84	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.74674	0.964;0.984	D	0.94571	0.7771	10	0.62326	D	0.03	-22.7636	14.163	0.65459	0.0:0.8497:0.1503:0.0	.	661;636	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	E	242;636;661;636;627	ENSP00000360512:G242E;ENSP00000277531:G636E;ENSP00000384610:G661E;ENSP00000400582:G627E	ENSP00000277531:G636E	G	-	2	0	PNPLA7	139511491	0.997000	0.39634	0.972000	0.41901	0.474000	0.32979	4.549000	0.60726	2.238000	0.73509	0.462000	0.41574	GGG		0.667	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		8	7	0	0	0	1	0	8	7				
PLA2G1B	5319	broad.mit.edu	37	12	120763812	120763812	+	Missense_Mutation	SNP	C	C	T	rs143788130		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120763812C>T	ENST00000308366.4	-	2	81	c.46G>A	c.(46-48)Gac>Aac	p.D16N	PLA2G1B_ENST00000549767.1_5'UTR|PLA2G1B_ENST00000423423.3_Missense_Mutation_p.D16N	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	16			D -> A (in dbSNP:rs5632).		actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	ATGCCGCTGTCGGCGGCGGCC	0.617											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)	ENST00000308366.4																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(46-48)Gac>Aac		phospholipase A2, group IB (pancreas)		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	87.0	94.0	91.0		46	2.0	0.0	12	dbSNP_134	91	0,8600		0,0,4300	no	missense	PLA2G1B	NM_000928.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	16/149	120763812	1,13005	2203	4300	6503	SO:0001583	missense	5319				actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding	g.chr12:120763812C>T		CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.46G>A	12.37:g.120763812C>T	ENSP00000312286:p.Asp16Asn		OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1506	PLA2G1B_ENST00000549767.1_5'UTR|PLA2G1B_ENST00000423423.3_Missense_Mutation_p.D16N	p.D16N	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN			2	81	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		16		D -> A (in dbSNP:rs5632).			B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	c.46G>A	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870818	0.17322	2.27E-4	0.0	ENSG00000170890	ENST00000308366;ENST00000423423	T;T	0.62788	1.98;-0.0	4.81	1.97	0.26223	.	1.337590	0.04858	N	0.443645	T	0.40619	0.1124	N	0.17248	0.465	0.19945	N	0.999945	B;B	0.25048	0.117;0.014	B;B	0.17098	0.017;0.005	T	0.20240	-1.0281	10	0.11794	T	0.64	-0.0643	3.3186	0.07041	0.1354:0.5758:0.1447:0.1441	.	16;16	Q9BS22;P04054	.;PA21B_HUMAN	N	16	ENSP00000312286:D16N;ENSP00000413594:D16N	ENSP00000312286:D16N	D	-	1	0	PLA2G1B	119248195	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.529000	0.02223	0.243000	0.21327	0.462000	0.41574	GAC		0.617	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1			70	173	0	0	0	1	0	70	173				
ADAM29	11086	broad.mit.edu	37	4	175897606	175897606	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:175897606C>T	ENST00000359240.3	+	5	1600	c.930C>T	c.(928-930)caC>caT	p.H310H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.H310H|ADAM29_ENST00000445694.1_Silent_p.H310H|ADAM29_ENST00000404450.4_Silent_p.H310H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	310	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTACACCACACCGTAGTTGTG	0.423																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(928-930)caC>caT		ADAM metallopeptidase domain 29							155.0	153.0	154.0					4																	175897606		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897606C>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.930C>T	4.37:g.175897606C>T						ADAM29_ENST00000404450.4_Silent_p.H310H|ADAM29_ENST00000514159.1_Silent_p.H310H|ADAM29_ENST00000445694.1_Silent_p.H310H	p.H310H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1600	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	310			Peptidase M12B.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.930C>T	CCDS3823.1																																																																																				0.423	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				34	85	0	0	0	1	0	34	85				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999861	112999861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112999861C>T	ENST00000271277.6	+	6	1972	c.1747C>T	c.(1747-1749)Cca>Tca	p.P583S	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	583					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCACCCATCCCACCCAAGAA	0.567																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1747-1749)Cca>Tca		CTTNBP2 N-terminal like							114.0	114.0	114.0					1																	112999861		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999861C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1747C>T	1.37:g.112999861C>T	ENSP00000271277:p.Pro583Ser					CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	p.P583S	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1972	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	583					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1747C>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055156	0.75960	.	.	ENSG00000143079	ENST00000271277	T	0.77489	-1.1	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87174	0.2223	10	0.56958	D	0.05	-13.5296	19.0842	0.93196	0.0:1.0:0.0:0.0	.	583	Q9P2B4	CT2NL_HUMAN	S	583	ENSP00000271277:P583S	ENSP00000271277:P583S	P	+	1	0	CTTNBP2NL	112801384	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.456000	0.80751	2.608000	0.88229	0.462000	0.41574	CCA		0.567	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		43	32	0	0	0	1	0	43	32				
PCDH9	5101	broad.mit.edu	37	13	67800937	67800937	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67800937C>T	ENST00000377865.2	-	1	1770	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	PCDH9_ENST00000456367.1_Missense_Mutation_p.D546N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D546N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D546N|PCDH9_ENST00000544246.1_Missense_Mutation_p.D546N			Q9HC56	PCDH9_HUMAN	protocadherin 9	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCCCATTGTCCCTGGCAGTT	0.433																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1636-1638)Gac>Aac		protocadherin 9							84.0	87.0	86.0					13																	67800937		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800937C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1636G>A	13.37:g.67800937C>T	ENSP00000367096:p.Asp546Asn					PCDH9_ENST00000377865.2_Missense_Mutation_p.D546N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D546N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D546N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D546N	p.D546N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2327	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	546			Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1636G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727597	0.69074	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.89369	0.3673	10	0.87932	D	0	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	546;546;546;546	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	546	ENSP00000442186:D546N;ENSP00000367096:D546N;ENSP00000401699:D546N;ENSP00000332060:D546N;ENSP00000367092:D546N	ENSP00000332060:D546N	D	-	1	0	PCDH9	66698938	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GAC		0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		38	64	0	0	0	1	0	38	64				
FREM1	158326	broad.mit.edu	37	9	14868816	14868816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14868816C>T	ENST00000380880.3	-	2	943	c.160G>A	c.(160-162)Gag>Aag	p.E54K	FREM1_ENST00000380881.4_Missense_Mutation_p.E54K|FREM1_ENST00000422223.2_Missense_Mutation_p.E54K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	54					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)		GCATCTTTCTCTTTAGGGATG	0.522																																						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.(160-162)Gag>Aag		FRAS1 related extracellular matrix 1							51.0	53.0	52.0					9																	14868816		1963	4165	6128	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14868816C>T	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.160G>A	9.37:g.14868816C>T	ENSP00000370262:p.Glu54Lys					FREM1_ENST00000422223.2_Missense_Mutation_p.E54K|FREM1_ENST00000380880.3_Missense_Mutation_p.E54K	p.E54K			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	3	975	-			54					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.160G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574612	0.45902	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.11063	2.81;2.81;2.81	5.49	5.49	0.81192	.	0.172035	0.50627	D	0.000102	T	0.14485	0.0350	L	0.61036	1.89	0.45097	D	0.998112	P	0.37663	0.604	B	0.31547	0.132	T	0.02546	-1.1143	10	0.38643	T	0.18	-23.5592	19.3752	0.94505	0.0:1.0:0.0:0.0	.	54	Q5H8C1	FREM1_HUMAN	K	54	ENSP00000370263:E54K;ENSP00000412940:E54K;ENSP00000370262:E54K	ENSP00000370257:E54K	E	-	1	0	FREM1	14858816	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	4.467000	0.60155	2.590000	0.87494	0.655000	0.94253	GAG		0.522	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		11	2	0	0	0	1	0	11	2				
CSPG4	1464	broad.mit.edu	37	15	75981041	75981041	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75981041G>A	ENST00000308508.5	-	3	2457	c.2365C>T	c.(2365-2367)Ctg>Ttg	p.L789L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	789	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGTGGCTCCAGCCGCAGCATC	0.642																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2365-2367)Ctg>Ttg		chondroitin sulfate proteoglycan 4							35.0	35.0	35.0					15																	75981041		2192	4282	6474	SO:0001819	synonymous_variant	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75981041G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2365C>T	15.37:g.75981041G>A							p.L789L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	2457	-			789			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Silent	SNP	ENST00000308508.5	37	c.2365C>T	CCDS10284.1																																																																																				0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		26	34	0	0	0	1	0	26	34				
FGD5	152273	broad.mit.edu	37	3	14963956	14963956	+	Silent	SNP	C	C	T	rs377460665	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:14963956C>T	ENST00000285046.5	+	15	3818	c.3708C>T	c.(3706-3708)ccC>ccT	p.P1236P	FGD5_ENST00000543601.1_Silent_p.P995P|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1236					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGAGAGGCCCCCCACCCTGG	0.597																																						ENST00000285046.5																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(3706-3708)ccC>ccT		FYVE, RhoGEF and PH domain containing 5							34.0	41.0	38.0					3																	14963956		2123	4219	6342	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14963956C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3708C>T	3.37:g.14963956C>T						FGD5_ENST00000543601.1_Silent_p.P995P|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	p.P1236P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN			15	3818	+			1236					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.3708C>T	CCDS46767.1																																																																																				0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		2	0	0	0	0	1	0	2	0				
ESPL1	9700	broad.mit.edu	37	12	53681818	53681818	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53681818G>A	ENST00000257934.4	+	19	4330	c.4239G>A	c.(4237-4239)gaG>gaA	p.E1413E	ESPL1_ENST00000552462.1_Silent_p.E1413E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1413					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTGGCAGAGGAGCCTAAGA	0.607											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(4237-4239)gaG>gaA		extra spindle pole bodies homolog 1 (S. cerevisiae)							37.0	41.0	40.0					12																	53681818		2202	4297	6499	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53681818G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4239G>A	12.37:g.53681818G>A			OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	ESPL1_ENST00000552462.1_Silent_p.E1413E	p.E1413E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			19	4330	+			1413						Silent	SNP	ENST00000257934.4	37	c.4239G>A	CCDS8852.1																																																																																				0.607	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		24	32	0	0	0	1	0	24	32				
CADPS	8618	broad.mit.edu	37	3	62467454	62467454	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:62467454G>A	ENST00000383710.4	-	22	3466	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1039	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCATTTGTGGGATGCCTAGAG	0.418																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3115-3117)atC>atT		Ca++-dependent secretion activator							231.0	218.0	222.0					3																	62467454		1916	4135	6051	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62467454G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3117C>T	3.37:g.62467454G>A						CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron	p.I1039I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	22	3466	-		Lung SC(41;0.0452)	1039			Interaction with DRD2.|MHD1.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3117C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702637	0.15172	.	.	ENSG00000163618	ENST00000473635	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.73666	0.3616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72127	-0.4384	4	.	.	.	.	17.4588	0.87614	0.0:0.0:1.0:0.0	.	.	.	.	F	26	.	.	S	-	2	0	CADPS	62442494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.103000	0.57783	2.641000	0.89580	0.563000	0.77884	TCC		0.418	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		45	73	0	0	0	1	0	45	73				
FMN2	56776	broad.mit.edu	37	1	240371520	240371520	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:240371520C>T	ENST00000319653.9	+	5	3638	c.3408C>T	c.(3406-3408)ccC>ccT	p.P1136P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1136	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTTCCCGGAGCGGGCA	0.716																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3406-3408)ccC>ccT		formin 2							6.0	8.0	7.0					1																	240371520		2070	4065	6135	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371520C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3408C>T	1.37:g.240371520C>T							p.P1136P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3638	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1136			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3408C>T	CCDS31069.2																																																																																				0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	2	0	0	0	1	0	4	2				
CUBN	8029	broad.mit.edu	37	10	16955870	16955870	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:16955870G>A	ENST00000377833.4	-	48	7538	c.7473C>T	c.(7471-7473)acC>acT	p.T2491T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2491	CUB 18. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAACATTAGGGTGATCCGCC	0.512																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(7471-7473)acC>acT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						151.0	135.0	140.0					10																	16955870		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16955870G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7473C>T	10.37:g.16955870G>A							p.T2491T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			48	7538	-			2491			CUB 18.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.7473C>T	CCDS7113.1																																																																																				0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		47	80	0	0	0	1	0	47	80				
PCDH15	65217	broad.mit.edu	37	10	55698611	55698611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:55698611C>T	ENST00000320301.6	-	25	3731	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E1113K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1042K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E1120K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1118K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1091K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1076K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1120K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E724K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1113	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGACCACTTCCAGGGAATCA	0.378										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(3358-3360)Gaa>Aaa		protocadherin-related 15							116.0	107.0	110.0					10																	55698611		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55698611C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3337G>A	10.37:g.55698611C>T	ENSP00000322604:p.Glu1113Lys	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Missense_Mutation_p.E1042K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1076K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1118K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1113K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E724K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1091K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1113K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1120K|PCDH15_ENST00000395442.1_Intron	p.E1120K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			26	3752	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1113			Cadherin 10.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3358G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417198	0.62511	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.56444	0.53;0.58;0.53;0.52;0.49;0.5;1.17;0.52;1.17;1.17;0.46	5.77	4.87	0.63330	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67720	0.2923	M	0.75777	2.31	0.32746	N	0.507045	P;B;P;P;P;P;P;B;P;P;B;B;P	0.51933	0.949;0.242;0.629;0.629;0.766;0.629;0.949;0.24;0.629;0.475;0.24;0.372;0.629	P;B;B;B;P;B;P;B;B;B;B;B;B	0.57620	0.824;0.16;0.439;0.439;0.593;0.439;0.824;0.309;0.326;0.326;0.216;0.309;0.439	T	0.76528	-0.2926	9	0.42905	T	0.14	.	14.8317	0.70153	0.0:0.7268:0.2732:0.0	.	1091;1113;1113;1118;1042;1076;1113;1113;1120;1120;1113;1118;1113	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1120;1118;1113;1113;724;1120;1076;1113;1091;1113;1113;1118;1042	ENSP00000363076:E1120K;ENSP00000410304:E1118K;ENSP00000378826:E1113K;ENSP00000386693:E724K;ENSP00000378832:E1120K;ENSP00000378820:E1076K;ENSP00000354950:E1113K;ENSP00000378821:E1091K;ENSP00000322604:E1113K;ENSP00000378818:E1113K;ENSP00000412628:E1042K	ENSP00000322604:E1113K	E	-	1	0	PCDH15	55368617	0.993000	0.37304	1.000000	0.80357	0.717000	0.41224	0.667000	0.25112	1.422000	0.47177	0.655000	0.94253	GAA		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		39	50	0	0	0	1	0	39	50				
HKR1	284459	broad.mit.edu	37	19	37853873	37853873	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37853873T>A	ENST00000324411.4	+	6	1445	c.1176T>A	c.(1174-1176)cgT>cgA	p.R392R	HKR1_ENST00000589392.1_Silent_p.R374R|HKR1_ENST00000392153.3_Silent_p.R373R|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000591471.1_Silent_p.R119R|HKR1_ENST00000544914.1_Silent_p.R119R|HKR1_ENST00000541583.2_Silent_p.R331R	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	392					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGCGTGGCTTTCGCC	0.527																																						ENST00000591471.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(355-357)cgT>cgA		HKR1, GLI-Kruppel zinc finger family member							99.0	95.0	97.0					19																	37853873		2203	4300	6503	SO:0001819	synonymous_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853873T>A	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1176T>A	19.37:g.37853873T>A						HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.R119R|HKR1_ENST00000541583.2_Silent_p.R331R|HKR1_ENST00000392153.3_Silent_p.R373R|HKR1_ENST00000589392.1_Silent_p.R374R|HKR1_ENST00000324411.4_Silent_p.R392R	p.R119R			P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	1998	+			392					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	ENST00000324411.4	37	c.357T>A	CCDS12502.1																																																																																				0.527	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		40	65	0	0	0	1	0	40	65				
OR2T3	343173	broad.mit.edu	37	1	248636947	248636947	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248636947C>T	ENST00000359594.2	+	1	321	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P99L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCATTTCCCCGTCAGGCTGT	0.547																																						ENST00000359594.2																			1	Substitution - Missense(1)	p.P99L(1)	endometrium(1)	breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(295-297)cCg>cTg		olfactory receptor, family 2, subfamily T, member 3							86.0	76.0	79.0					1																	248636947		2189	4298	6487	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636947C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.296C>T	1.37:g.248636947C>T	ENSP00000352604:p.Pro99Leu						p.P99L	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	321	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		99					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.296C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	0.184	-1.059924	0.01950	.	.	ENSG00000196539	ENST00000359594	T	0.00321	8.11	2.65	-5.3	0.02738	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.01202	-0.96	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13980	-1.0489	9	0.32370	T	0.25	.	6.9554	0.24568	0.1145:0.2971:0.0:0.5884	.	99	Q8NH03	OR2T3_HUMAN	L	99	ENSP00000352604:P99L	ENSP00000352604:P99L	P	+	2	0	OR2T3	246703570	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.228000	0.00549	-1.943000	0.01039	-1.202000	0.01658	CCG		0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		30	13	0	0	0	1	0	30	13				
VAC14	55697	broad.mit.edu	37	16	70817011	70817011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:70817011C>T	ENST00000261776.5	-	7	996	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	246					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTCTTAATTTCTTTTAAGAAT	0.512																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(736-738)Gaa>Aaa		Vac14 homolog (S. cerevisiae)							96.0	106.0	103.0					16																	70817011		2198	4300	6498	SO:0001583	missense	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70817011C>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.736G>A	16.37:g.70817011C>T	ENSP00000261776:p.Glu246Lys						p.E246K	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			7	996	-		Ovarian(137;0.0699)	246					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	ENST00000261776.5	37	c.736G>A	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251833	0.80135	.	.	ENSG00000103043	ENST00000261776	T	0.64991	-0.13	5.11	5.11	0.69529	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.86502	2.82	0.80722	D	1	B	0.26318	0.146	B	0.19148	0.024	T	0.70368	-0.4891	10	0.48119	T	0.1	-15.6864	18.5613	0.91101	0.0:1.0:0.0:0.0	.	246	Q08AM6	VAC14_HUMAN	K	246	ENSP00000261776:E246K	ENSP00000261776:E246K	E	-	1	0	VAC14	69374512	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.469000	0.80959	2.386000	0.81285	0.561000	0.74099	GAA		0.512	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		42	73	0	0	0	1	0	42	73				
THBS3	7059	broad.mit.edu	37	1	155172169	155172169	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:155172169G>A	ENST00000368378.3	-	9	1001	c.981C>T	c.(979-981)ttC>ttT	p.F327F	RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|THBS3_ENST00000457183.2_Silent_p.F207F|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	327	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGAGCCCGGGAAACAGGGGT	0.607																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(979-981)ttC>ttT		thrombospondin 3							78.0	78.0	78.0					1																	155172169		2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155172169G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.981C>T	1.37:g.155172169G>A						THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Silent_p.F207F|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.F177F	p.F327F	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		9	1001	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		327			EGF-like 2; calcium-binding (Potential).		B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	c.981C>T	CCDS1099.1																																																																																				0.607	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		17	54	0	0	0	1	0	17	54				
BZRAP1	9256	broad.mit.edu	37	17	56386506	56386506	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56386506C>T	ENST00000343736.4	-	22	4290	c.4127G>A	c.(4126-4128)aGa>aAa	p.R1376K	BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1376K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1376						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCTTCGGGGCTG	0.632																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4126-4128)aGa>aAa		benzodiazapine receptor (peripheral) associated protein 1							81.0	87.0	85.0					17																	56386506		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386506C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4127G>A	17.37:g.56386506C>T	ENSP00000345824:p.Arg1376Lys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K	p.R1376K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	4997	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1376					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4127G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037289	0.08148	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04083	3.71;3.71;3.71	5.31	4.25	0.50352	.	0.965480	0.08634	N	0.916556	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B;B;B	0.18741	0.002;0.03;0.017	B;B;B	0.19946	0.003;0.027;0.012	T	0.48670	-0.9015	10	0.05959	T	0.93	.	3.8085	0.08788	0.2634:0.5926:0.0:0.144	.	1376;1316;1376	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	K	1376;1376;1316	ENSP00000347929:R1376K;ENSP00000345824:R1376K;ENSP00000268893:R1316K	ENSP00000268893:R1316K	R	-	2	0	BZRAP1	53741505	0.074000	0.21230	0.984000	0.44739	0.968000	0.65278	1.219000	0.32479	2.487000	0.83934	0.563000	0.77884	AGA		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		67	68	0	0	0	1	0	67	68				
OR2L2	26246	broad.mit.edu	37	1	248201602	248201602	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248201602C>T	ENST00000366479.2	+	1	129	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAACTGATTTCATCTTATTGG	0.358																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(31-33)ttC>ttT		olfactory receptor, family 2, subfamily L, member 2							127.0	123.0	124.0					1																	248201602		2203	4300	6503	SO:0001819	synonymous_variant	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201602C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.33C>T	1.37:g.248201602C>T						OR2L13_ENST00000366478.2_Intron	p.F11F	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	129	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		11					Q2M3T5	Silent	SNP	ENST00000366479.2	37	c.33C>T	CCDS31103.1																																																																																				0.358	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		52	70	0	0	0	1	0	52	70				
LRRTM1	347730	broad.mit.edu	37	2	80530926	80530926	+	Missense_Mutation	SNP	C	C	T	rs567908272		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530926C>T	ENST00000295057.3	-	2	675	c.19G>A	c.(19-21)Ggt>Agt	p.G7S	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G7S|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	7					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGACAGAGACCGAGCAGCAGG	0.567										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(19-21)Ggt>Agt		leucine rich repeat transmembrane neuronal 1							27.0	30.0	29.0					2																	80530926		2006	4128	6134	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530926C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.19G>A	2.37:g.80530926C>T	ENSP00000295057:p.Gly7Ser	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G7S	p.G7S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	675	-			7					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.19G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713861	0.68730	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.54279	0.96;0.96;0.74;0.58;1.51	4.46	4.46	0.54185	.	0.000000	0.85682	U	0.000000	T	0.68833	0.3044	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69335	-0.5172	9	.	.	.	.	17.1108	0.86674	0.0:1.0:0.0:0.0	.	7	Q86UE6	LRRT1_HUMAN	S	7	ENSP00000295057:G7S;ENSP00000386646:G7S;ENSP00000415368:G7S;ENSP00000389473:G7S;ENSP00000404557:G7S	.	G	-	1	0	LRRTM1	80384437	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.793000	0.85851	2.024000	0.59613	0.185000	0.17295	GGT		0.567	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		22	34	0	0	0	1	0	22	34				
GPR179	440435	broad.mit.edu	37	17	36487059	36487059	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:36487059G>A	ENST00000342292.4	-	11	2413	c.2393C>T	c.(2392-2394)gCc>gTc	p.A798V	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	798					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTTCGAGAGGCCTTCTTGGC	0.647																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2392-2394)gCc>gTc		G protein-coupled receptor 179							10.0	12.0	11.0					17																	36487059		1981	4147	6128	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487059G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2393C>T	17.37:g.36487059G>A	ENSP00000345060:p.Ala798Val						p.A798V	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	2413	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	798						Missense_Mutation	SNP	ENST00000342292.4	37	c.2393C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609363	0.14066	.	.	ENSG00000188888	ENST00000342292	T	0.53857	0.6	5.3	-5.75	0.02384	.	1.005240	0.08006	N	0.989502	T	0.25382	0.0617	N	0.17474	0.49	0.19945	N	0.999946	B	0.12630	0.006	B	0.08055	0.003	T	0.14615	-1.0466	10	0.21014	T	0.42	-0.0366	1.5068	0.02488	0.4243:0.1085:0.2589:0.2084	.	798	Q6PRD1	GP179_HUMAN	V	798	ENSP00000345060:A798V	ENSP00000345060:A798V	A	-	2	0	GPR179	33740585	0.002000	0.14202	0.004000	0.12327	0.022000	0.10575	0.250000	0.18235	-1.285000	0.02387	-0.768000	0.03414	GCC		0.647	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	7	0	0	0	1	0	4	7				
PCDHGA5	56110	broad.mit.edu	37	5	140745111	140745111	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140745111T>G	ENST00000518069.1	+	1	1214	c.1214T>G	c.(1213-1215)tTa>tGa	p.L405*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCACCTATTAACAACTAGG	0.413																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1213-1215)tTa>tGa									96.0	97.0	97.0					5																	140745111		1875	4113	5988	SO:0001587	stop_gained	56110							g.chr5:140745111T>G	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1214T>G	5.37:g.140745111T>G	ENSP00000429834:p.Leu405*					PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.L405*	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1214	+								Q2M3F5|Q9Y5D2	Nonsense_Mutation	SNP	ENST00000518069.1	37	c.1214T>G	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	19.92	3.916586	0.73098	.	.	ENSG00000253485	ENST00000518069	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.6174	0.76778	0.0:0.0:0.0:1.0	.	.	.	.	X	405	.	ENSP00000429834:L405X	L	+	2	0	PCDHGA5	140725295	0.017000	0.18338	0.941000	0.38009	0.326000	0.28443	2.013000	0.40942	2.225000	0.72522	0.460000	0.39030	TTA		0.413	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		29	57	0	0	0	1	0	29	57				
PLXNA4	91584	broad.mit.edu	37	7	131887427	131887427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:131887427C>T	ENST00000359827.3	-	12	3526	c.2564G>A	c.(2563-2565)tGc>tAc	p.C855Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C855Y			Q9HCM2	PLXA4_HUMAN	plexin A4	855	PSI 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGGTTTGTGCACTTGCTTTT	0.657																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2563-2565)tGc>tAc		plexin A4							40.0	43.0	42.0					7																	131887427		1992	4166	6158	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887427C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2564G>A	7.37:g.131887427C>T	ENSP00000352882:p.Cys855Tyr					PLXNA4_ENST00000321063.4_Missense_Mutation_p.C855Y	p.C855Y			Q9HCM2	PLXA4_HUMAN			12	3526	-			855			PSI 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2564G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385436	0.82792	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.54071	0.59;0.59	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.83999	0.0342	10	0.66056	D	0.02	.	17.9075	0.88923	0.0:1.0:0.0:0.0	.	855	Q9HCM2	PLXA4_HUMAN	Y	855	ENSP00000323194:C855Y;ENSP00000352882:C855Y	ENSP00000323194:C855Y	C	-	2	0	PLXNA4	131537967	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.651000	0.83577	2.466000	0.83321	0.561000	0.74099	TGC		0.657	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		30	42	0	0	0	1	0	30	42				
CACNA1D	776	broad.mit.edu	37	3	53785838	53785838	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53785838C>T	ENST00000350061.5	+	28	4090	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	CACNA1D_ENST00000540742.1_Silent_p.P100P|CACNA1D_ENST00000422281.2_Silent_p.P1193P|CACNA1D_ENST00000288139.4_Silent_p.P1213P	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1193					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)	CCAAAAACCCCTACCAGTACA	0.498																																						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.(3637-3639)ccC>ccT		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						243.0	209.0	220.0					3																	53785838		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785838C>T	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.3579C>T	3.37:g.53785838C>T						CACNA1D_ENST00000350061.5_Silent_p.P1193P|CACNA1D_ENST00000540742.1_Silent_p.P100P|CACNA1D_ENST00000422281.2_Silent_p.P1193P	p.P1213P	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)	29	3757	+			1193					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.3639C>T	CCDS46848.1																																																																																				0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		57	113	0	0	0	1	0	57	113				
IQCH	64799	broad.mit.edu	37	15	67555493	67555493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:67555493C>T	ENST00000335894.4	+	3	274	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000512104.1_Nonsense_Mutation_p.Q70*|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	70										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGTTGTAAACCAGAATGTATT	0.318																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(208-210)Cag>Tag		IQ motif containing H							80.0	74.0	76.0					15																	67555493		2201	4297	6498	SO:0001587	stop_gained	64799							g.chr15:67555493C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.208C>T	15.37:g.67555493C>T	ENSP00000336861:p.Gln70*					IQCH_ENST00000512104.1_Nonsense_Mutation_p.Q70*|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	p.Q70*	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	3	274	+			70					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Nonsense_Mutation	SNP	ENST00000335894.4	37	c.208C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967997	0.74131	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	.	.	.	5.35	4.43	0.53597	.	1.078760	0.06996	N	0.822446	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	0.5347	11.7553	0.51872	0.1762:0.8238:0.0:0.0	.	.	.	.	X	70	.	ENSP00000336861:Q70X	Q	+	1	0	IQCH	65342547	0.982000	0.34865	0.989000	0.46669	0.680000	0.39746	1.057000	0.30492	1.374000	0.46228	0.555000	0.69702	CAG		0.318	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		18	23	0	0	0	1	0	18	23				
EMILIN1	11117	broad.mit.edu	37	2	27306172	27306172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27306172G>A	ENST00000380320.4	+	4	2232	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	578					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCATGGGGATGAGGGC	0.657																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(1732-1734)gGg>gAg		elastin microfibril interfacer 1							26.0	30.0	29.0					2																	27306172		2196	4294	6490	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306172G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1733G>A	2.37:g.27306172G>A	ENSP00000369677:p.Gly578Glu						p.G578E	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	2232	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		578					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.1733G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100638	0.37048	.	.	ENSG00000138080	ENST00000380320	T	0.66280	-0.2	4.54	4.54	0.55810	.	0.320352	0.28241	N	0.016069	T	0.58221	0.2107	N	0.19112	0.55	0.38103	D	0.937321	D	0.69078	0.997	D	0.66196	0.942	T	0.55224	-0.8174	10	0.02654	T	1	-26.4894	12.6476	0.56744	0.0:0.0:1.0:0.0	.	578	Q9Y6C2	EMIL1_HUMAN	E	578	ENSP00000369677:G578E	ENSP00000369677:G578E	G	+	2	0	EMILIN1	27159676	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	2.442000	0.44873	2.363000	0.80096	0.561000	0.74099	GGG		0.657	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		24	26	0	0	0	1	0	24	26				
CNTN6	27255	broad.mit.edu	37	3	1414031	1414031	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1414031G>A	ENST00000446702.2	+	13	2168	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	CNTN6_ENST00000539053.1_Missense_Mutation_p.G442D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G514D			Q9UQ52	CNTN6_HUMAN	contactin 6	514	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACAGTTGGCGAGAGTATA	0.388																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1540-1542)gGc>gAc		contactin 6							132.0	121.0	125.0					3																	1414031		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1414031G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1541G>A	3.37:g.1414031G>A	ENSP00000407822:p.Gly514Asp					CNTN6_ENST00000539053.1_Missense_Mutation_p.G442D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G514D	p.G514D			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	13	2168	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	514			Ig-like C2-type 6.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1541G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644536	0.87859	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.80566	-1.39;-1.39;-1.39	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	D	0.92899	0.7741	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93967	0.7246	10	0.87932	D	0	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	514	Q9UQ52	CNTN6_HUMAN	D	514;442;514	ENSP00000407822:G514D;ENSP00000442791:G442D;ENSP00000341882:G514D	ENSP00000341882:G514D	G	+	2	0	CNTN6	1389031	1.000000	0.71417	0.489000	0.27452	0.786000	0.44442	9.355000	0.97087	2.732000	0.93576	0.650000	0.86243	GGC		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		32	52	0	0	0	1	0	32	52				
C2CD3	26005	broad.mit.edu	37	11	73785530	73785530	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73785530G>A	ENST00000334126.7	-	24	4945	c.4719C>T	c.(4717-4719)tcC>tcT	p.S1573S	C2CD3_ENST00000313663.7_Silent_p.S1573S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1573					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGCAGTCCATGGAGTCCAGCT	0.542																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(4717-4719)tcC>tcT		C2 calcium-dependent domain containing 3							88.0	75.0	79.0					11																	73785530		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73785530G>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4719C>T	11.37:g.73785530G>A						C2CD3_ENST00000313663.7_Silent_p.S1573S	p.S1573S			Q4AC94	C2CD3_HUMAN			24	4945	-	Breast(11;4.16e-06)		1573					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.4719C>T																																																																																					0.542	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		15	27	0	0	0	1	0	15	27				
SLCO1B3	28234	broad.mit.edu	37	12	21011438	21011438	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:21011438G>A	ENST00000381545.3	+	5	511	c.292G>A	c.(292-294)Gga>Aga	p.G98R	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G98R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G98R|LST3_ENST00000540229.1_Missense_Mutation_p.G98R|LST3_ENST00000381541.3_Missense_Mutation_p.G98R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G98R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	98					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GAAGTTAATTGGAATTGGTTG	0.318																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(292-294)Gga>Aga		solute carrier organic anion transporter family, member 1B3							176.0	159.0	165.0					12																	21011438		2203	4299	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21011438G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.292G>A	12.37:g.21011438G>A	ENSP00000370956:p.Gly98Arg					SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G98R|LST3_ENST00000540229.1_Missense_Mutation_p.G98R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G98R|LST3_ENST00000381541.3_Missense_Mutation_p.G98R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G98R	p.G98R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			5	511	+	Esophageal squamous(101;0.149)		98					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.292G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267285	0.59540	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2	3.99	3.0	0.34707	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.167182	0.50627	D	0.000103	T	0.80639	0.4661	H	0.94306	3.52	0.29156	N	0.878074	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.77493	-0.2567	10	0.87932	D	0	.	12.5025	0.55964	0.0:0.0:0.8322:0.1677	.	98;98;98	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	R	98	ENSP00000442000:G98R;ENSP00000261196:G98R;ENSP00000370956:G98R;ENSP00000451758:G98R;ENSP00000370952:G98R;ENSP00000441269:G98R;ENSP00000452013:G98R	ENSP00000370952:G98R	G	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20902705	1.000000	0.71417	0.993000	0.49108	0.674000	0.39518	6.086000	0.71352	1.926000	0.55796	0.460000	0.39030	GGA		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		30	38	0	0	0	1	0	30	38				
CEP192	55125	broad.mit.edu	37	18	13067878	13067878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:13067878G>A	ENST00000325971.8	+	20	4342	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	CEP192_ENST00000430049.2_Missense_Mutation_p.G1038R|CEP192_ENST00000506447.1_Missense_Mutation_p.G1513R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	917					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGACTTATGGAGGCTGGAA	0.348																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4537-4539)Gga>Aga		centrosomal protein 192kDa							77.0	76.0	76.0					18																	13067878		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13067878G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2749G>A	18.37:g.13067878G>A	ENSP00000317156:p.Gly917Arg					CEP192_ENST00000325971.8_Missense_Mutation_p.G917R|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038R	p.G1513R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			22	4617	+			1108					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4537G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.687079	0.88639	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.81078	-1.45;-1.45;-1.45	5.37	5.37	0.77165	.	0.060521	0.64402	D	0.000003	D	0.88998	0.6590	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70227	0.954;0.968	D	0.89628	0.3853	10	0.87932	D	0	-17.886	19.4881	0.95039	0.0:0.0:1.0:0.0	.	1038;1513	C9JT09;E9PF99	.;.	R	1513;917;917;1038	ENSP00000427550:G1513R;ENSP00000317156:G917R;ENSP00000389190:G1038R	ENSP00000317156:G917R	G	+	1	0	CEP192	13057878	1.000000	0.71417	0.767000	0.31495	0.742000	0.42306	9.031000	0.93731	2.673000	0.90976	0.655000	0.94253	GGA		0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		39	42	0	0	0	1	0	39	42				
RHOT2	89941	broad.mit.edu	37	16	722105	722105	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:722105C>T	ENST00000315082.4	+	14	1233	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	373					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				ACCTGGACGTCCGGAGCTGCC	0.682																																						ENST00000315082.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13						c.(1117-1119)gtC>gtT		ras homolog family member T2							97.0	101.0	100.0					16																	722105		2201	4299	6500	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:722105C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1119C>T	16.37:g.722105C>T							p.V373V	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN			14	1233	+		Hepatocellular(780;0.0218)	373					A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1119C>T	CCDS10417.1																																																																																				0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	NM_138769		52	88	0	0	0	1	0	52	88				
LAMA2	3908	broad.mit.edu	37	6	129371227	129371227	+	Missense_Mutation	SNP	C	C	T	rs530988751	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:129371227C>T	ENST00000421865.2	+	2	326	c.277C>T	c.(277-279)Cca>Tca	p.P93S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	93	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)	p.P93T(1)		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)		CAGCAGCAATCCAAACCGTAT	0.438																																						ENST00000421865.2																			1	Substitution - Missense(1)	p.P93T(1)	kidney(1)	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.(277-279)Cca>Tca		laminin, alpha 2							148.0	124.0	132.0					6																	129371227		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.chr6:129371227C>T	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.277C>T	6.37:g.129371227C>T	ENSP00000400365:p.Pro93Ser						p.P93S	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)	2	326	+			93			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.277C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172178	0.57584	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.74842	-0.88	5.44	4.52	0.55395	Laminin, N-terminal (3);	0.321128	0.28510	N	0.015095	T	0.71117	0.3302	M	0.71581	2.175	0.39901	D	0.973908	P;P	0.36683	0.565;0.565	B;B	0.40825	0.341;0.341	T	0.76966	-0.2763	10	0.59425	D	0.04	.	17.7953	0.88568	0.0:0.8677:0.1323:0.0	.	93;93	A6NF00;P24043	.;LAMA2_HUMAN	S	93	ENSP00000400365:P93S	ENSP00000346769:P93S	P	+	1	0	LAMA2	129412920	0.029000	0.19370	0.999000	0.59377	0.913000	0.54294	1.409000	0.34680	2.552000	0.86080	0.561000	0.74099	CCA		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			22	17	0	0	0	1	0	22	17				
ELK3	2004	broad.mit.edu	37	12	96640976	96640976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:96640976G>A	ENST00000228741.3	+	3	792	c.466G>A	c.(466-468)Gac>Aac	p.D156N	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	156					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAACCCACCAGACGCCTTCAA	0.572																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(466-468)Gac>Aac		ELK3, ETS-domain protein (SRF accessory protein 2)							66.0	64.0	65.0					12																	96640976		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96640976G>A	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.466G>A	12.37:g.96640976G>A	ENSP00000228741:p.Asp156Asn					ELK3_ENST00000552142.1_Intron	p.D156N	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	792	+	all_cancers(2;0.00173)		156					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.466G>A	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948874	0.53186	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.35605	1.58;1.3	5.5	5.5	0.81552	.	0.344315	0.33631	N	0.004717	T	0.33118	0.0852	L	0.34521	1.04	0.80722	D	1	B	0.14438	0.01	B	0.16289	0.015	T	0.05022	-1.0911	10	0.46703	T	0.11	.	19.3979	0.94614	0.0:0.0:1.0:0.0	.	156	P41970	ELK3_HUMAN	N	156	ENSP00000228741:D156N;ENSP00000447857:D156N	ENSP00000228741:D156N	D	+	1	0	ELK3	95165107	1.000000	0.71417	0.022000	0.16811	0.889000	0.51656	4.949000	0.63596	2.590000	0.87494	0.462000	0.41574	GAC		0.572	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		25	7	0	0	0	1	0	25	7				
ATP2A2	488	broad.mit.edu	37	12	110780229	110780229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110780229C>T	ENST00000539276.2	+	15	2403	c.2294C>T	c.(2293-2295)tCg>tTg	p.S765L	ATP2A2_ENST00000395494.2_Missense_Mutation_p.S738L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	765			S -> L (in DD). {ECO:0000269|PubMed:10441325}.		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S765L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TACCTCATCTCGTCCAACGTC	0.522																																						ENST00000395494.2																			1	Substitution - Missense(1)	p.S765L(1)	lung(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CM990252	ATP2A2	M		c.(2212-2214)tCg>tTg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							112.0	93.0	100.0					12																	110780229		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110780229C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2294C>T	12.37:g.110780229C>T	ENSP00000440045:p.Ser765Leu					ATP2A2_ENST00000539276.2_Missense_Mutation_p.S765L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L	p.S738L			P16615	AT2A2_HUMAN			14	2776	+			765					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2213C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302040	0.95601	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.89681	-2.55;-2.55;-2.55	5.54	5.54	0.83059	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.997	D	0.95758	0.8798	10	0.87932	D	0	.	19.4725	0.94969	0.0:1.0:0.0:0.0	.	738;765;765	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	L	765;738;765	ENSP00000311186:S765L;ENSP00000378872:S738L;ENSP00000440045:S765L	ENSP00000311186:S765L	S	+	2	0	ATP2A2	109264612	1.000000	0.71417	0.956000	0.39512	0.756000	0.42949	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	TCG		0.522	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		41	27	0	0	0	1	0	41	27				
GCN1L1	10985	broad.mit.edu	37	12	120602165	120602165	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120602165A>T	ENST00000300648.6	-	18	1835	c.1823T>A	c.(1822-1824)cTg>cAg	p.L608Q		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	608					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGTCTTCAGCTCCTCCAA	0.592																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1822-1824)cTg>cAg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							97.0	101.0	100.0					12																	120602165		1969	4147	6116	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602165A>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1823T>A	12.37:g.120602165A>T	ENSP00000300648:p.Leu608Gln						p.L608Q	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1835	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		608					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1823T>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979040	0.92982	.	.	ENSG00000089154	ENST00000300648	T	0.15017	2.46	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.071421	0.64402	D	0.000018	T	0.43211	0.1237	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.37454	-0.9705	10	0.72032	D	0.01	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	608	Q92616	GCN1L_HUMAN	Q	608	ENSP00000300648:L608Q	ENSP00000300648:L608Q	L	-	2	0	GCN1L1	119086548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.653000	0.91088	2.235000	0.73313	0.533000	0.62120	CTG		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			110	103	0	0	0	1	0	110	103				
KIAA0922	23240	broad.mit.edu	37	4	154553968	154553968	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:154553968G>A	ENST00000409663.3	+	32	4355	c.4303G>A	c.(4303-4305)Gag>Aag	p.E1435K	KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1436K|KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1352K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1435						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGTGATTCAGGAGTCGGCCCC	0.517																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4303-4305)Gag>Aag		KIAA0922							135.0	106.0	116.0					4																	154553968		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154553968G>A	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4303G>A	4.37:g.154553968G>A	ENSP00000386574:p.Glu1435Lys					KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1352K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1436K	p.E1435K	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			32	4355	+	all_hematologic(180;0.093)	Renal(120;0.118)	1435					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4303G>A	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795646	0.50208	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.17854	2.52;2.25;2.52;2.25	5.3	4.45	0.53987	.	0.500312	0.22073	N	0.065007	T	0.13500	0.0327	L	0.38175	1.15	0.33219	D	0.554427	B;P;P	0.40834	0.328;0.73;0.611	B;B;B	0.35688	0.188;0.208;0.103	T	0.10613	-1.0622	10	0.14656	T	0.56	-3.8307	15.9644	0.79956	0.0:0.1351:0.8649:0.0	.	1352;1436;1435	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	K	1435;1352;1436;1213	ENSP00000386574:E1435K;ENSP00000409663:E1352K;ENSP00000386787:E1436K;ENSP00000240487:E1213K	ENSP00000240487:E1213K	E	+	1	0	KIAA0922	154773418	0.994000	0.37717	0.026000	0.17262	0.017000	0.09413	3.584000	0.53936	1.218000	0.43458	0.563000	0.77884	GAG		0.517	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		23	38	0	0	0	1	0	23	38				
DISP1	84976	broad.mit.edu	37	1	223179118	223179118	+	Missense_Mutation	SNP	C	C	T	rs35640001		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:223179118C>T	ENST00000284476.6	+	8	4543	c.4379C>T	c.(4378-4380)cCa>cTa	p.P1460L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1460					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CAGAATGAACCAAAAGTCCTA	0.438																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4378-4380)cCa>cTa		dispatched homolog 1 (Drosophila)							85.0	83.0	83.0					1																	223179118		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223179118C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4379C>T	1.37:g.223179118C>T	ENSP00000284476:p.Pro1460Leu						p.P1460L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4543	+			1460					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4379C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885261	0.33255	.	.	ENSG00000154309	ENST00000284476	D	0.91792	-2.91	5.52	4.55	0.56014	.	0.494085	0.21938	N	0.066935	D	0.84515	0.5489	L	0.29908	0.895	0.09310	N	1	B	0.28713	0.22	B	0.21546	0.035	T	0.75852	-0.3171	10	0.59425	D	0.04	-6.9272	6.8816	0.24177	0.3238:0.5911:0.0:0.0851	.	1460	Q96F81	DISP1_HUMAN	L	1460	ENSP00000284476:P1460L	ENSP00000284476:P1460L	P	+	2	0	DISP1	221245741	0.166000	0.22962	0.203000	0.23512	0.023000	0.10783	2.502000	0.45398	2.585000	0.87301	0.655000	0.94253	CCA		0.438	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		32	16	0	0	0	1	0	32	16				
C19orf57	79173	broad.mit.edu	37	19	14000435	14000435	+	Silent	SNP	G	G	A	rs149789464		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000435G>A	ENST00000586783.1	-	5	1233	c.1234C>T	c.(1234-1236)Cta>Tta	p.L412L	C19orf57_ENST00000454313.1_Silent_p.L412L|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.L412L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	412					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGCCCACTAGGACATCGCCG	0.652																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1234-1236)Cta>Tta		chromosome 19 open reading frame 57		G		0,4406		0,0,2203	34.0	35.0	34.0		1234	-1.9	0.0	19	dbSNP_134	34	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf57	NM_024323.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		412/638	14000435	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14000435G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1234C>T	19.37:g.14000435G>A						C19orf57_ENST00000586783.1_Silent_p.L412L|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.L412L	p.L412L			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1292	-			412					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.1234C>T																																																																																					0.652	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		19	39	0	0	0	1	0	19	39				
SNX25	83891	broad.mit.edu	37	4	186253747	186253747	+	Splice_Site	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:186253747A>C	ENST00000504273.1	+	10	1551		c.e10-1		SNX25_ENST00000264694.8_Splice_Site|SNX25_ENST00000512853.1_Splice_Site			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTCTCCCCCTAGGGCCCAAGA	0.418																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.e10-1		sorting nexin 25							53.0	50.0	51.0					4																	186253747		2203	4300	6503	SO:0001630	splice_region_variant	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186253747A>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1258-1A>C	4.37:g.186253747A>C						SNX25_ENST00000264694.8_Splice_Site|SNX25_ENST00000512853.1_Splice_Site				Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	10	1551	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)						Q3ZT30|Q8N6K3	Splice_Site	SNP	ENST00000504273.1	37		CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780068	0.31502	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1734	0.81833	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX25	186490741	1.000000	0.71417	0.690000	0.30148	0.003000	0.03518	6.603000	0.74145	2.232000	0.73038	0.467000	0.42956	.		0.418	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	Intron	11	31	0	0	0	1	0	11	31				
CD37	951	broad.mit.edu	37	19	49842699	49842699	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49842699C>T	ENST00000323906.4	+	7	909				CD37_ENST00000535669.2_Missense_Mutation_p.S266L|CD37_ENST00000598095.1_Missense_Mutation_p.S198L|CD37_ENST00000426897.2_Intron|CTC-301O7.4_ENST00000358234.4_lincRNA	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule						defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CACCCGCGATCGGCCCTAAAT	0.652																																						ENST00000535669.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11						c.(796-798)tCg>tTg		CD37 molecule							64.0	67.0	66.0					19																	49842699		2203	4300	6503	SO:0001627	intron_variant	951					integral to membrane		g.chr19:49842699C>T		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.768+29C>T	19.37:g.49842699C>T						CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Intron|CD37_ENST00000426897.2_Intron|CD37_ENST00000598095.1_Missense_Mutation_p.S198L	p.S266L			P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	7	911	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	0					B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.797C>T	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321715	0.41096	.	.	ENSG00000104894	ENST00000535669	T	0.19394	2.15	3.71	-3.04	0.05412	.	.	.	.	.	T	0.09774	0.0240	.	.	.	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.36504	-0.9745	7	.	.	.	.	5.5419	0.17043	0.0:0.4839:0.1826:0.3335	.	198;266;266	B4DVC1;B7ZAN3;B4DW15	.;.;.	L	266	ENSP00000441037:S266L	.	S	+	2	0	CD37	54534511	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.345000	0.07770	-0.728000	0.04882	-0.362000	0.07510	TCG		0.652	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			49	74	0	0	0	1	0	49	74				
PHKA1	5255	broad.mit.edu	37	X	71932657	71932657	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:71932657C>T	ENST00000373542.4	-	2	360	c.201G>A	c.(199-201)cgG>cgA	p.R67R	PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000373545.3_Silent_p.R67R|PHKA1_ENST00000541944.1_Silent_p.R67R|PHKA1_ENST00000339490.3_Silent_p.R67R|PHKA1_ENST00000373539.3_Silent_p.R67R	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	67					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TATCCTCATCCCGGTCTGCAT	0.493																																						ENST00000373545.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(199-201)cgG>cgA		phosphorylase kinase, alpha 1 (muscle)							61.0	51.0	55.0					X																	71932657		2203	4300	6503	SO:0001819	synonymous_variant	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71932657C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.201G>A	X.37:g.71932657C>T						PHKA1_ENST00000339490.3_Silent_p.R67R|PHKA1_ENST00000541944.1_Silent_p.R67R|PHKA1_ENST00000373539.3_Silent_p.R67R|PHKA1_ENST00000373542.4_Silent_p.R67R	p.R67R			P46020	KPB1_HUMAN			2	639	-	Renal(35;0.156)		67					B7ZL05|B7ZL07|Q2M3D7	Silent	SNP	ENST00000373542.4	37	c.201G>A	CCDS14421.1																																																																																				0.493	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			18	24	0	0	0	1	0	18	24				
ZNF268	10795	broad.mit.edu	37	12	133779348	133779348	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133779348C>T	ENST00000536435.2	+	6	1406	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	ZNF268_ENST00000228289.5_Missense_Mutation_p.P359L|ZNF268_ENST00000537565.1_Missense_Mutation_p.P198L|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	359					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGTGAGAATCCCTATGAGTGC	0.403																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(1075-1077)cCc>cTc		zinc finger protein 268							30.0	33.0	32.0					12																	133779348		2154	4272	6426	SO:0001583	missense	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779348C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.1076C>T	12.37:g.133779348C>T	ENSP00000444412:p.Pro359Leu					ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.P359L|ZNF268_ENST00000537565.1_Missense_Mutation_p.P198L	p.P359L	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1406	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	359					Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	37	c.1076C>T	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	7.753	0.703747	0.15172	.	.	ENSG00000090612	ENST00000541009;ENST00000228289;ENST00000537565;ENST00000541019	T;T	0.56444	0.46;0.46	4.65	0.653	0.17828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48314	0.1493	M	0.78223	2.4	0.20403	N	0.999904	B;B	0.19331	0.025;0.035	B;B	0.17098	0.017;0.015	T	0.41928	-0.9481	8	.	.	.	.	5.2716	0.15628	0.1545:0.6048:0.0:0.2407	.	359;198	Q14587;Q14587-2	ZN268_HUMAN;.	L	359;359;198;198	ENSP00000228289:P359L;ENSP00000445713:P198L	.	P	+	2	0	ZNF268	132289421	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.501000	0.22578	-0.067000	0.12976	0.650000	0.86243	CCC		0.403	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		10	9	0	0	0	1	0	10	9				
SH3RF3	344558	broad.mit.edu	37	2	109964286	109964286	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:109964286C>T	ENST00000309415.6	+	2	730	c.730C>T	c.(730-732)Cca>Tca	p.P244S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	244	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGGCTTCCTCCCAGCCAGCTA	0.567																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(730-732)Cca>Tca		SH3 domain containing ring finger 3							53.0	61.0	58.0					2																	109964286		2144	4241	6385	SO:0001583	missense	344558						zinc ion binding	g.chr2:109964286C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.730C>T	2.37:g.109964286C>T	ENSP00000309186:p.Pro244Ser						p.P244S	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			2	730	+			244			SH3 1.		A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.730C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.337032	0.81801	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	D;D	0.99454	-5.92;-5.92	5.07	5.07	0.68467	Src homology-3 domain (4);	.	.	.	.	D	0.99521	0.9829	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.98419	1.0576	8	0.87932	D	0	.	18.4567	0.90722	0.0:1.0:0.0:0.0	.	244	Q8TEJ3	SH3R3_HUMAN	S	244	ENSP00000414997:P244S;ENSP00000309186:P244S	ENSP00000309186:P244S	P	+	1	0	SH3RF3	109330718	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	7.818000	0.86416	2.344000	0.79699	0.484000	0.47621	CCA		0.567	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		7	19	0	0	0	1	0	7	19				
KRT12	3859	broad.mit.edu	37	17	39023387	39023387	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39023387A>T	ENST00000251643.4	-	1	75	c.52T>A	c.(52-54)Tcc>Acc	p.S18T		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	18	Head.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	AGCCGCCGGGACAGTCCGGGG	0.597																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(52-54)Tcc>Acc		keratin 12							44.0	48.0	47.0					17																	39023387		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39023387A>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.52T>A	17.37:g.39023387A>T	ENSP00000251643:p.Ser18Thr						p.S18T	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			1	75	-		Breast(137;0.000301)	18			Head.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.52T>A	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527653	0.44969	.	.	ENSG00000187242	ENST00000251643	D	0.82526	-1.62	5.61	-2.21	0.06973	.	0.411172	0.20883	N	0.083964	T	0.66963	0.2843	N	0.22421	0.69	0.09310	N	1	B	0.32245	0.361	B	0.23419	0.046	T	0.54788	-0.8241	10	0.46703	T	0.11	.	12.398	0.55397	0.6212:0.0:0.3788:0.0	.	18	Q99456	K1C12_HUMAN	T	18	ENSP00000251643:S18T	ENSP00000251643:S18T	S	-	1	0	KRT12	36276913	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.298000	0.08265	-0.573000	0.05998	-0.274000	0.10170	TCC		0.597	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		15	38	0	0	0	1	0	15	38				
FAM83A	84985	broad.mit.edu	37	8	124195487	124195487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:124195487G>A	ENST00000518448.1	+	2	2405	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K|FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|RP11-539E17.5_ENST00000522383.1_RNA|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|U3_ENST00000408534.1_RNA|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	131										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTACCTGAAGGAAAAATCCAG	0.612																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(391-393)Gaa>Aaa		family with sequence similarity 83, member A							67.0	69.0	69.0					8																	124195487		2203	4300	6503	SO:0001583	missense	84985							g.chr8:124195487G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.391G>A	8.37:g.124195487G>A	ENSP00000428876:p.Glu131Lys					FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K	p.E131K			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		2	2405	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		131					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.391G>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812255	0.50527	.	.	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.11277	2.79;2.97;2.79;2.79;2.97;2.79	5.46	5.46	0.80206	.	0.438008	0.25590	N	0.029624	T	0.21267	0.0512	L	0.57536	1.79	0.35912	D	0.831188	P;P;P	0.49185	0.787;0.763;0.92	B;B;P	0.48952	0.298;0.311;0.596	T	0.04229	-1.0967	10	0.36615	T	0.2	-12.9792	19.2957	0.94120	0.0:0.0:1.0:0.0	.	131;131;131	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	K	131	ENSP00000428876:E131K;ENSP00000440565:E131K;ENSP00000445218:E131K;ENSP00000323034:E131K;ENSP00000427979:E131K;ENSP00000276699:E131K	ENSP00000276699:E131K	E	+	1	0	FAM83A	124264668	1.000000	0.71417	0.994000	0.49952	0.121000	0.20230	5.815000	0.69215	2.548000	0.85928	0.561000	0.74099	GAA		0.612	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		31	65	0	0	0	1	0	31	65				
BRWD3	254065	broad.mit.edu	37	X	79991559	79991559	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:79991559C>T	ENST00000373275.4	-	9	1058	c.842G>A	c.(841-843)aGa>aAa	p.R281K		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	281					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						AGTGAGGTATCTGTTTGTGCC	0.308																																						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.(841-843)aGa>aAa		bromodomain and WD repeat domain containing 3							67.0	61.0	63.0					X																	79991559		2203	4298	6501	SO:0001583	missense	254065							g.chrX:79991559C>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.842G>A	X.37:g.79991559C>T	ENSP00000362372:p.Arg281Lys						p.R281K	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			9	1058	-			281					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.842G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756589	0.89843	.	.	ENSG00000165288	ENST00000373275	T	0.59364	0.27	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	N	0.20445	0.575	0.46011	D	0.998811	D	0.69078	0.997	D	0.73708	0.981	T	0.61357	-0.7079	9	.	.	.	-14.5301	16.4124	0.83723	0.0:1.0:0.0:0.0	.	281	Q6RI45	BRWD3_HUMAN	K	281	ENSP00000362372:R281K	.	R	-	2	0	BRWD3	79878215	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.521000	0.81832	2.131000	0.65755	0.544000	0.68410	AGA		0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	25	0	0	0	1	0	16	25				
CDH18	1016	broad.mit.edu	37	5	19473415	19473415	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:19473415G>A	ENST00000507958.1	-	15	3283	c.2293C>T	c.(2293-2295)Cac>Tac	p.H765Y	CDH18_ENST00000382275.1_Missense_Mutation_p.H765Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.H765Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	765					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAAGGTAGTGATAATCCTGG	0.448																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(2293-2295)Cac>Tac		cadherin 18, type 2							92.0	94.0	94.0					5																	19473415		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473415G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2293C>T	5.37:g.19473415G>A	ENSP00000425093:p.His765Tyr					CDH18_ENST00000274170.4_Missense_Mutation_p.H765Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.H765Y	p.H765Y			Q13634	CAD18_HUMAN			15	3283	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		765					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2293C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885516	0.51908	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.76448	-1.02;-1.02;-1.02	5.71	3.83	0.44106	Cadherin, cytoplasmic domain (1);	0.407546	0.28262	N	0.015995	T	0.59905	0.2228	N	0.14661	0.345	0.31355	N	0.682061	P	0.36412	0.552	B	0.39094	0.29	T	0.60131	-0.7323	9	.	.	.	.	8.1344	0.31046	0.0:0.1305:0.5655:0.3041	.	765	Q13634	CAD18_HUMAN	Y	765	ENSP00000371710:H765Y;ENSP00000425093:H765Y;ENSP00000274170:H765Y	.	H	-	1	0	CDH18	19509172	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.971000	0.56831	2.861000	0.98227	0.650000	0.86243	CAC		0.448	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		25	34	0	0	0	1	0	25	34				
DYSF	8291	broad.mit.edu	37	2	71838717	71838717	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:71838717G>A	ENST00000258104.3	+	38	4405	c.4128G>A	c.(4126-4128)aaG>aaA	p.K1376K	DYSF_ENST00000409582.3_Silent_p.K1393K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.K1407K|DYSF_ENST00000410020.3_Silent_p.K1394K|DYSF_ENST00000429174.2_Silent_p.K1376K|DYSF_ENST00000409762.1_Silent_p.K1393K|DYSF_ENST00000410041.1_Silent_p.K1394K|DYSF_ENST00000409366.1_Silent_p.K1377K|DYSF_ENST00000409651.1_Silent_p.K1408K|DYSF_ENST00000394120.2_Silent_p.K1377K|DYSF_ENST00000409744.1_Silent_p.K1363K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4126-4128)aaG>aaA		dysferlin							57.0	55.0	56.0					2																	71838717		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838717G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4128G>A	2.37:g.71838717G>A						DYSF_ENST00000429174.2_Silent_p.K1376K|DYSF_ENST00000410041.1_Silent_p.K1394K|DYSF_ENST00000394120.2_Silent_p.K1377K|DYSF_ENST00000409366.1_Silent_p.K1377K|DYSF_ENST00000409582.3_Silent_p.K1393K|DYSF_ENST00000409744.1_Silent_p.K1363K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.K1393K|DYSF_ENST00000409651.1_Silent_p.K1408K|DYSF_ENST00000413539.2_Silent_p.K1407K|DYSF_ENST00000410020.3_Silent_p.K1394K	p.K1376K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			38	4405	+			1376					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.4128G>A	CCDS1918.1																																																																																				0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	30	0	0	0	1	0	10	30				
RASGEF1A	221002	broad.mit.edu	37	10	43695197	43695197	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:43695197T>A	ENST00000395809.1	-	7	3282	c.776A>T	c.(775-777)aAg>aTg	p.K259M	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K259M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K267M|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	259	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCTGTAGGTCTTGGTCAGGTC	0.617																																						ENST00000395809.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(775-777)aAg>aTg		RasGEF domain family, member 1A							116.0	81.0	93.0					10																	43695197		2203	4300	6503	SO:0001583	missense	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43695197T>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.776A>T	10.37:g.43695197T>A	ENSP00000379154:p.Lys259Met					RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K259M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K267M	p.K259M			Q8N9B8	RGF1A_HUMAN			7	3282	-			259			Ras-GEF.		Q8TBF1	Missense_Mutation	SNP	ENST00000395809.1	37	c.776A>T	CCDS7202.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.613945|4.613945	0.87359|0.87359	.|.	.|.	ENSG00000198915|ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809|ENST00000374455	T;T;T|.	0.33438|.	1.41;1.41;1.41|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77644|0.77644	0.4161|0.4161	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.987|.	T|T	0.80169|0.80169	-0.1494|-0.1494	10|5	0.72032|.	D|.	0.01|.	.|.	14.8723|14.8723	0.70468|0.70468	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	259;267|.	Q8N9B8;Q8N9B8-2|.	RGF1A_HUMAN;.|.	M|H	267;259;259|160	ENSP00000363583:K267M;ENSP00000379155:K259M;ENSP00000379154:K259M|.	ENSP00000363583:K267M|.	K|Q	-|-	2|3	0|2	RASGEF1A|RASGEF1A	43015203|43015203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.608000|7.608000	0.82898|0.82898	1.905000|1.905000	0.55150|0.55150	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.617	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		18	28	0	0	0	1	0	18	28				
SLITRK2	84631	broad.mit.edu	37	X	144905934	144905934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:144905934C>T	ENST00000370490.1	+	1	6246	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S664F|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	664					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACGTAAGCTCCTTTCAATTA	0.468																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1990-1992)tCc>tTc		SLIT and NTRK-like family, member 2							88.0	77.0	81.0					X																	144905934		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905934C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1991C>T	X.37:g.144905934C>T	ENSP00000359521:p.Ser664Phe					SLITRK2_ENST00000428560.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S664F	p.S664F			Q9H156	SLIK2_HUMAN			1	6246	+	Acute lymphoblastic leukemia(192;6.56e-05)		664					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1991C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115767	0.77323	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.58210	0.4;0.35;0.35;0.35;0.35;0.35	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72727	-0.4206	10	0.72032	D	0.01	-9.1262	16.462	0.84059	0.0:1.0:0.0:0.0	.	664	Q9H156	SLIK2_HUMAN	F	664	ENSP00000334374:S664F;ENSP00000411681:S664F;ENSP00000359521:S664F;ENSP00000397015:S664F;ENSP00000407347:S664F;ENSP00000412010:S664F	ENSP00000334374:S664F	S	+	2	0	SLITRK2	144713626	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.026000	0.70873	2.493000	0.84123	0.600000	0.82982	TCC		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		62	73	0	0	0	1	0	62	73				
NAV3	89795	broad.mit.edu	37	12	78400818	78400818	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:78400818C>T	ENST00000397909.2	+	8	1673	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	NAV3_ENST00000536525.2_Silent_p.S500S|NAV3_ENST00000228327.6_Silent_p.S500S|NAV3_ENST00000266692.7_Silent_p.S500S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	500						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGACCTCCAAAATTGCAA	0.413										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1498-1500)tcC>tcT		neuron navigator 3							76.0	75.0	75.0					12																	78400818		1891	4116	6007	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400818C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1500C>T	12.37:g.78400818C>T		HNSCC(70;0.22)				NAV3_ENST00000536525.2_Silent_p.S500S|NAV3_ENST00000266692.7_Silent_p.S500S|NAV3_ENST00000228327.6_Silent_p.S500S	p.S500S			Q8IVL0	NAV3_HUMAN			8	1673	+			500					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1500C>T																																																																																					0.413	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		56	14	0	0	0	1	0	56	14				
USP48	84196	broad.mit.edu	37	1	22028022	22028022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22028022G>A	ENST00000308271.9	-	22	3344	c.2696C>T	c.(2695-2697)cCa>cTa	p.P899L	USP48_ENST00000374732.3_Missense_Mutation_p.P437L|USP48_ENST00000529637.1_Missense_Mutation_p.P911L|USP48_ENST00000400301.1_Missense_Mutation_p.P899L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	899					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTCTCCATCTGGTTTAGCTTC	0.428																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2695-2697)cCa>cTa		ubiquitin specific peptidase 48							166.0	165.0	165.0					1																	22028022		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22028022G>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2696C>T	1.37:g.22028022G>A	ENSP00000309262:p.Pro899Leu					USP48_ENST00000374732.3_Missense_Mutation_p.P437L|USP48_ENST00000529637.1_Missense_Mutation_p.P911L|USP48_ENST00000400301.1_Missense_Mutation_p.P899L	p.P899L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	22	3344	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	899					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.2696C>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600323	0.46423	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.04603	3.61;3.59;3.6	6.02	5.11	0.69529	.	0.346410	0.35179	N	0.003391	T	0.03959	0.0111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001;0.002	B;B;B;B;B;B	0.11329	0.004;0.001;0.001;0.006;0.002;0.006	T	0.32613	-0.9900	10	0.08179	T	0.78	.	14.4258	0.67215	0.0701:0.0:0.9299:0.0	.	911;899;24;899;899;437	B7ZKS7;B7ZKS3;Q86UV5-6;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	L	899;899;437;911	ENSP00000383157:P899L;ENSP00000309262:P899L;ENSP00000431949:P911L	ENSP00000309262:P899L	P	-	2	0	USP48	21900609	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.363000	0.52321	1.556000	0.49512	0.650000	0.86243	CCA		0.428	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		7	36	0	0	0	1	0	7	36				
DNAH11	8701	broad.mit.edu	37	7	21640715	21640715	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640715C>A	ENST00000409508.3	+	17	3374	c.3343C>A	c.(3343-3345)Cct>Act	p.P1115T	DNAH11_ENST00000328843.6_Missense_Mutation_p.P1115T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	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						GGACATGAAGCCTTTCAAAGT	0.363									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.(3343-3345)Cct>Act		dynein, axonemal, heavy chain 11							130.0	124.0	126.0					7																	21640715		1860	4103	5963	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.chr7:21640715C>A	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.3343C>A	7.37:g.21640715C>A	ENSP00000475939:p.Pro1115Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115T	p.P1115T			Q96DT5	DYH11_HUMAN			17	3374	+			1115			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3343C>A		.	.	.	.	.	.	.	.	.	.	C	19.61	3.859150	0.71834	.	.	ENSG00000105877	ENST00000328843	T	0.25085	1.82	5.56	5.56	0.83823	.	0.186088	0.46758	D	0.000269	T	0.23054	0.0557	.	.	.	0.49299	D	0.999778	P	0.39282	0.666	B	0.35859	0.212	T	0.02179	-1.1200	9	0.54805	T	0.06	.	13.4416	0.61117	0.0:0.9243:0.0:0.0757	.	1115	Q96DT5	DYH11_HUMAN	T	1115	ENSP00000330671:P1115T	ENSP00000330671:P1115T	P	+	1	0	DNAH11	21607240	0.542000	0.26426	1.000000	0.80357	0.997000	0.91878	1.650000	0.37292	2.632000	0.89209	0.655000	0.94253	CCT		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		32	22	1	0	1.30998e-17	1	1.33394e-17	32	22				
SEC24A	10802	broad.mit.edu	37	5	134015380	134015380	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134015380G>A	ENST00000398844.2	+	8	1631	c.1343G>A	c.(1342-1344)aGg>aAg	p.R448K	SEC24A_ENST00000322887.4_Missense_Mutation_p.R448K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	448	Zinc finger-like.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGATCAAAGGAGATGGAAG	0.388																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1342-1344)aGg>aAg		SEC24 family member A							216.0	198.0	204.0					5																	134015380		1879	4116	5995	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134015380G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1343G>A	5.37:g.134015380G>A	ENSP00000381823:p.Arg448Lys					SEC24A_ENST00000322887.4_Missense_Mutation_p.R448K	p.R448K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1631	+			448			Zinc finger-like.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.1343G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937920	0.52972	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.41400	1.0;1.0	4.98	4.11	0.48088	Zinc finger, Sec23/Sec24-type (1);	0.166954	0.64402	N	0.000008	T	0.31796	0.0808	L	0.28192	0.835	0.58432	D	0.999999	B;B	0.12630	0.006;0.0	B;B	0.17722	0.019;0.003	T	0.09207	-1.0685	10	0.46703	T	0.11	-7.296	13.6828	0.62496	0.0748:0.0:0.9252:0.0	.	212;448	B4E205;O95486	.;SC24A_HUMAN	K	448	ENSP00000381823:R448K;ENSP00000321749:R448K	ENSP00000321749:R448K	R	+	2	0	SEC24A	134043279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.368000	0.73104	1.320000	0.45209	0.555000	0.69702	AGG		0.388	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			33	59	0	0	0	1	0	33	59				
PCDHB11	56125	broad.mit.edu	37	5	140580862	140580862	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140580862C>T	ENST00000354757.3	+	1	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	PCDHB11_ENST00000536699.1_Silent_p.S140S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGTCTCCATCAACACAG	0.657																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1513-1515)tcC>tcT									109.0	118.0	115.0					5																	140580862		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580862C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1515C>T	5.37:g.140580862C>T						PCDHB11_ENST00000536699.1_Silent_p.S140S	p.S505S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1515	+			505			Cadherin 5.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.1515C>T	CCDS4253.1																																																																																				0.657	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		75	133	0	0	0	1	0	75	133				
SLC4A7	9497	broad.mit.edu	37	3	27453223	27453223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:27453223G>A	ENST00000295736.5	-	12	1719	c.1649C>T	c.(1648-1650)cCt>cTt	p.P550L	SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	550					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GTGAAACACAGGAATCTTTCT	0.418																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1648-1650)cCt>cTt		solute carrier family 4, sodium bicarbonate cotransporter, member 7							50.0	52.0	51.0					3																	27453223		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27453223G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1649C>T	3.37:g.27453223G>A	ENSP00000295736:p.Pro550Leu					SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426L	p.P550L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			12	1719	-			550					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1649C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721049	0.89205	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.13;-1.14;-1.14;-1.22;-1.14;-1.21;-1.15;-1.21;-1.15;-1.43;0.3;-1.14	5.63	5.63	0.86233	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.199719	0.53938	D	0.000048	D	0.89076	0.6612	M	0.72353	2.195	0.80722	D	1	D;P;D;D;D;P;D;D;P	0.67145	0.991;0.95;0.984;0.996;0.984;0.553;0.97;0.991;0.95	D;P;P;D;P;P;P;D;P	0.67900	0.937;0.703;0.889;0.954;0.889;0.454;0.844;0.937;0.703	D	0.87899	0.2689	10	0.46703	T	0.11	.	20.054	0.97641	0.0:0.0:1.0:0.0	.	546;431;542;546;559;100;426;550;431	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	L	101;550;426;559;546;431;542;431;546;435;100;542;446	ENSP00000411031:P101L;ENSP00000295736:P550L;ENSP00000416368:P426L;ENSP00000390394:P559L;ENSP00000414797:P546L;ENSP00000394252:P431L;ENSP00000406605:P542L;ENSP00000407382:P431L;ENSP00000406804:P546L;ENSP00000395336:P435L;ENSP00000373429:P100L;ENSP00000401949:P542L;ENSP00000388703:P446L	ENSP00000295736:P550L	P	-	2	0	SLC4A7	27428227	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.230000	0.95299	2.808000	0.96608	0.655000	0.94253	CCT		0.418	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		12	22	0	0	0	1	0	12	22				
ZCCHC5	203430	broad.mit.edu	37	X	77912704	77912704	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:77912704G>A	ENST00000321110.1	-	2	1509	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	405							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTCTGCAGAGGAACTTTTCCC	0.522																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1213-1215)tCc>tTc		zinc finger, CCHC domain containing 5							127.0	110.0	116.0					X																	77912704		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912704G>A	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1214C>T	X.37:g.77912704G>A	ENSP00000316794:p.Ser405Phe						p.S405F	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	1509	-			405					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1214C>T	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.770613	0.00645	.	.	ENSG00000179300	ENST00000321110	T	0.20069	2.1	3.1	2.22	0.28083	.	1.463030	0.05795	U	0.611062	T	0.18923	0.0454	L	0.36672	1.1	0.09310	N	1	P	0.46277	0.875	B	0.41571	0.36	T	0.22556	-1.0213	10	0.56958	D	0.05	.	6.6737	0.23082	0.0:0.0:0.7191:0.2809	.	405	Q8N8U3	ZCHC5_HUMAN	F	405	ENSP00000316794:S405F	ENSP00000316794:S405F	S	-	2	0	ZCCHC5	77799360	0.007000	0.16637	0.001000	0.08648	0.010000	0.07245	1.619000	0.36965	0.675000	0.31264	0.513000	0.50165	TCC		0.522	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		46	50	0	0	0	1	0	46	50				
PEG3	5178	broad.mit.edu	37	19	57335918	57335918	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57335918C>T	ENST00000326441.9	-	4	469	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36R|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	36					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGACCTTCTCCTATGATGACA	0.478																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(106-108)Gga>Aga		paternally expressed 3							79.0	80.0	80.0					19																	57335918		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335918C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.106G>A	19.37:g.57335918C>T	ENSP00000326581:p.Gly36Arg					PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron	p.G36R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	469	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	36					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.106G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298995	0.23650	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02656	4.21;4.21	4.66	2.02	0.26589	.	0.381628	0.19309	N	0.117444	T	0.01189	0.0039	N	0.04508	-0.205	.	.	.	B	0.32829	0.386	B	0.29353	0.101	T	0.40459	-0.9562	8	.	.	.	-17.3637	3.8221	0.08839	0.2181:0.6334:0.0:0.1484	.	36	Q9GZU2	PEG3_HUMAN	R	36	ENSP00000326581:G36R;ENSP00000403051:G36R	.	G	-	1	0	ZIM2	62027730	0.092000	0.21681	0.900000	0.35374	0.989000	0.77384	0.197000	0.17197	1.024000	0.39682	0.655000	0.94253	GGA		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			36	44	0	0	0	1	0	36	44				
ITPR3	3710	broad.mit.edu	37	6	33658768	33658768	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33658768C>T	ENST00000374316.5	+	53	8167	c.7107C>T	c.(7105-7107)atC>atT	p.I2369I	ITPR3_ENST00000605930.1_Silent_p.I2369I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2369					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCCGCTCCATCCTGCTGACAG	0.572																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(7105-7107)atC>atT		inositol 1,4,5-trisphosphate receptor, type 3							151.0	122.0	132.0					6																	33658768		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33658768C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7107C>T	6.37:g.33658768C>T						ITPR3_ENST00000605930.1_Silent_p.I2369I	p.I2369I			Q14573	ITPR3_HUMAN			53	8167	+			2369					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7107C>T	CCDS4783.1																																																																																				0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	61	0	0	0	1	0	4	61				
PROS1	5627	broad.mit.edu	37	3	93615439	93615439	+	Missense_Mutation	SNP	G	G	A	rs373983977		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:93615439G>A	ENST00000394236.3	-	9	1262	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	316	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.R316C(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCTGGCAAACGAAATTTTAAA	0.408																																						ENST00000394236.3																			1	Substitution - Missense(1)	p.R316C(1)	lung(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46	GRCh37	CM064172	PROS1	M		c.(946-948)Cgt>Tgt		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	G	CYS/ARG	1,4399		0,1,2199	69.0	75.0	73.0		946	3.3	1.0	3		73	0,8596		0,0,4298	no	missense	PROS1	NM_000313.3	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	316/677	93615439	1,12995	2200	4298	6498	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615439G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.946C>T	3.37:g.93615439G>A	ENSP00000377783:p.Arg316Cys					PROS1_ENST00000407433.1_Missense_Mutation_p.R185C	p.R316C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			9	1262	-			316			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.946C>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038462	0.55003	2.27E-4	0.0	ENSG00000184500	ENST00000394236;ENST00000407433	T;T	0.79653	-1.29;-1.29	4.17	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.140326	0.45606	D	0.000345	T	0.80182	0.4576	M	0.77820	2.39	0.43863	D	0.996465	D	0.64830	0.994	P	0.44477	0.451	T	0.81304	-0.0993	10	0.87932	D	0	.	9.7596	0.40524	0.0:0.0:0.527:0.473	.	316	P07225	PROS_HUMAN	C	316;185	ENSP00000377783:R316C;ENSP00000385794:R185C	ENSP00000377783:R316C	R	-	1	0	PROS1	95098129	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	2.991000	0.49409	0.929000	0.37192	0.460000	0.39030	CGT		0.408	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		32	57	0	0	0	1	0	32	57				
PHKA2	5256	broad.mit.edu	37	X	18972465	18972465	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18972465G>A	ENST00000379942.4	-	2	809	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	48					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGATACTGTAGATGTTATCCC	0.567																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(142-144)atC>atT		phosphorylase kinase, alpha 2 (liver)							118.0	84.0	95.0					X																	18972465		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18972465G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.144C>T	X.37:g.18972465G>A							p.I48I	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			2	809	-	Hepatocellular(33;0.183)		48					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.144C>T	CCDS14190.1																																																																																				0.567	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		55	53	0	0	0	1	0	55	53				
PHLDB1	23187	broad.mit.edu	37	11	118498114	118498114	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:118498114C>T	ENST00000361417.2	+	7	986	c.575C>T	c.(574-576)tCt>tTt	p.S192F	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGAGCTCTATTGAGAAG	0.572																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(574-576)tCt>tTt		pleckstrin homology-like domain, family B, member 1							69.0	62.0	64.0					11																	118498114		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118498114C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.575C>T	11.37:g.118498114C>T	ENSP00000354498:p.Ser192Phe					PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192F	p.S192F	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	986	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	192					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.575C>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696661	0.88830	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.37058	1.23;1.22	5.94	5.94	0.96194	.	0.284702	0.33938	N	0.004401	T	0.60117	0.2244	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.996;0.997;0.995	T	0.59101	-0.7517	10	0.87932	D	0	-20.0667	19.9698	0.97280	0.0:1.0:0.0:0.0	.	191;192;192	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	F	192;191;192;192	ENSP00000354498:S192F;ENSP00000348359:S192F	ENSP00000348359:S192F	S	+	2	0	PHLDB1	118003324	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.335000	0.79234	2.816000	0.96949	0.563000	0.77884	TCT		0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		33	44	0	0	0	1	0	33	44				
FAM131B	9715	broad.mit.edu	37	7	143054043	143054043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:143054043G>A	ENST00000409408.1	-	6	2307	c.599C>T	c.(598-600)tCg>tTg	p.S200L	FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	200										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GGCATCTGACGACCCCAGACA	0.552																																						ENST00000409408.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						c.(598-600)tCg>tTg		family with sequence similarity 131, member B							60.0	53.0	56.0					7																	143054043		2203	4300	6503	SO:0001583	missense	9715							g.chr7:143054043G>A	BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.599C>T	7.37:g.143054043G>A	ENSP00000387017:p.Ser200Leu					FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L	p.S200L			Q86XD5	F131B_HUMAN			6	2307	-	Melanoma(164;0.205)		200					A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	ENST00000409408.1	37	c.599C>T	CCDS5882.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087725	0.55968	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46908	0.1417	M	0.63843	1.955	0.80722	D	1	D;B	0.89917	1.0;0.178	D;B	0.81914	0.995;0.025	T	0.27157	-1.0082	10	0.09338	T	0.73	-32.733	19.3138	0.94204	0.0:0.0:1.0:0.0	.	216;200	Q86XD5-2;Q86XD5	.;F131B_HUMAN	L	228;216;200;204;200;200	ENSP00000410603:S228L;ENSP00000386568:S216L;ENSP00000386984:S200L;ENSP00000387017:S200L;ENSP00000387147:S200L	ENSP00000387147:S200L	S	-	2	0	FAM131B	142764165	1.000000	0.71417	0.950000	0.38849	0.953000	0.61014	7.496000	0.81526	2.561000	0.86390	0.655000	0.94253	TCG		0.552	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328057.1	NM_014690		24	48	0	0	0	1	0	24	48				
CADM2	253559	broad.mit.edu	37	3	85961560	85961560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:85961560G>C	ENST00000407528.2	+	5	602	c.540G>C	c.(538-540)aaG>aaC	p.K180N	CADM2_ENST00000383699.3_Missense_Mutation_p.K189N|CADM2_ENST00000405615.2_Missense_Mutation_p.K182N	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	180	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CAAATCGCAAGACATTCACTG	0.398																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(565-567)aaG>aaC		cell adhesion molecule 2							86.0	70.0	75.0					3																	85961560		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85961560G>C	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.540G>C	3.37:g.85961560G>C	ENSP00000384575:p.Lys180Asn					CADM2_ENST00000405615.2_Missense_Mutation_p.K182N|CADM2_ENST00000407528.2_Missense_Mutation_p.K180N	p.K189N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	6	1194	+		Lung NSC(201;0.0148)	180			Ig-like C2-type 1.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.567G>C	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711756	0.68730	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76839	-1.05;-1.05;-1.05	5.6	3.81	0.43845	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	M	0.81497	2.545	0.53688	D	0.99997	D;P;P	0.56035	0.974;0.554;0.855	P;B;P	0.60609	0.877;0.264;0.709	T	0.82872	-0.0242	10	0.45353	T	0.12	.	8.4103	0.32640	0.2951:0.0:0.7049:0.0	.	182;189;180	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	N	189;180;182	ENSP00000373200:K189N;ENSP00000384575:K180N;ENSP00000384193:K182N	ENSP00000373200:K189N	K	+	3	2	CADM2	86044250	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.092000	0.41700	0.730000	0.32425	0.591000	0.81541	AAG		0.398	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		18	34	0	0	0	1	0	18	34				
RBP3	5949	broad.mit.edu	37	10	48389614	48389614	+	Missense_Mutation	SNP	G	G	A	rs199801954		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389614G>A	ENST00000224600.4	-	1	1377	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	422	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGCTTGCCGGATAGCCTCG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.001		0.0	False		,,,				2504	0.0					ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1264-1266)Cgg>Tgg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						56.0	51.0	53.0					10																	48389614		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389614G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1264C>T	10.37:g.48389614G>A	ENSP00000224600:p.Arg422Trp						p.R422W	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1377	-			422			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1264C>T	CCDS7218.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.13	2.741371	0.49151	.	.	ENSG00000107618	ENST00000224600	T	0.64618	-0.11	5.43	3.48	0.39840	Interphotoreceptor retinol-binding (1);	1.101880	0.06773	N	0.783883	T	0.78521	0.4296	M	0.78801	2.425	0.09310	N	1	D	0.89917	1.0	D	0.67231	0.95	T	0.59511	-0.7441	10	0.62326	D	0.03	-7.0425	9.9365	0.41554	0.0734:0.0:0.7892:0.1374	.	422	P10745	RET3_HUMAN	W	422	ENSP00000224600:R422W	ENSP00000224600:R422W	R	-	1	2	RBP3	48009620	0.011000	0.17503	0.006000	0.13384	0.911000	0.54048	1.686000	0.37669	1.286000	0.44565	0.561000	0.74099	CGG		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		20	40	0	0	0	1	0	20	40				
ADAM21P1	145241	broad.mit.edu	37	14	70714098	70714098	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:70714098C>T	ENST00000530196.1	-	0	420					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GCACGCTCATCTGTGTAGGTG	0.502																																						ENST00000530196.1																			0																																																			145241							g.chr14:70714098C>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714098C>T								NR_003951.1						0	420	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		29	85	0	0	0	1	0	29	85				
DENND3	22898	broad.mit.edu	37	8	142161893	142161893	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:142161893T>A	ENST00000262585.2	+	7	1069	c.791T>A	c.(790-792)tTc>tAc	p.F264Y	DENND3_ENST00000424248.1_Missense_Mutation_p.F264Y|DENND3_ENST00000519811.1_Missense_Mutation_p.F344Y	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	264	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACGTCCTTCCTGATGGGC	0.557																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1030-1032)tTc>tAc		DENN/MADD domain containing 3							130.0	113.0	119.0					8																	142161893		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142161893T>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.791T>A	8.37:g.142161893T>A	ENSP00000262585:p.Phe264Tyr					DENND3_ENST00000262585.2_Missense_Mutation_p.F264Y|DENND3_ENST00000424248.1_Missense_Mutation_p.F264Y	p.F344Y			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1101	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		264					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1031T>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139364	0.77775	.	.	ENSG00000105339	ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.71	5.71	0.89125	DENN (3);	0.092947	0.85682	D	0.000000	T	0.18299	0.0439	L	0.31804	0.96	0.49687	D	0.99981	P;P	0.52692	0.922;0.955	P;P	0.51701	0.677;0.677	T	0.02307	-1.1179	10	0.28530	T	0.3	-4.663	15.9602	0.79926	0.0:0.0:0.0:1.0	.	344;264	E9PF32;A2RUS2	.;DEND3_HUMAN	Y	264;264;344;266	ENSP00000262585:F264Y;ENSP00000410594:F264Y;ENSP00000428714:F344Y;ENSP00000429780:F266Y	ENSP00000262585:F264Y	F	+	2	0	DENND3	142231075	1.000000	0.71417	0.953000	0.39169	0.933000	0.57130	4.444000	0.60001	2.172000	0.68678	0.460000	0.39030	TTC		0.557	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		43	74	0	0	0	1	0	43	74				
DOCK6	57572	broad.mit.edu	37	19	11332856	11332856	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11332856G>A	ENST00000294618.7	-	27	3320	c.3309C>T	c.(3307-3309)ttC>ttT	p.F1103F	DOCK6_ENST00000319867.7_Silent_p.F442F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1103					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCTGCTGCCGGAATGGTCCAC	0.622																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3307-3309)ttC>ttT		dedicator of cytokinesis 6							39.0	42.0	41.0					19																	11332856		2047	4188	6235	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11332856G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3309C>T	19.37:g.11332856G>A						DOCK6_ENST00000319867.7_Silent_p.F442F	p.F1103F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			27	3320	-			1103					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.3309C>T	CCDS45975.1																																																																																				0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		8	6	0	0	0	1	0	8	6				
DNAL1	83544	broad.mit.edu	37	14	74138254	74138254	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74138254G>A	ENST00000553645.2	+	5	259	c.218G>A	c.(217-219)aGg>aAg	p.R73K	DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000554871.1_Missense_Mutation_p.R34K|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000540526.1_Missense_Mutation_p.R34K	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	73										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAAAACTTGAGGATATTATCT	0.224																																						ENST00000553645.1																			0				kidney(1)|lung(2)	3						c.(217-219)aGg>aAg		dynein, axonemal, light chain 1							15.0	16.0	16.0					14																	74138254		1745	3950	5695	SO:0001583	missense	83544							g.chr14:74138254G>A	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.218G>A	14.37:g.74138254G>A	ENSP00000452037:p.Arg73Lys					DNAL1_ENST00000554871.1_Missense_Mutation_p.R34K|DNAL1_ENST00000540526.1_Missense_Mutation_p.R34K|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_5'UTR	p.R73K	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	5	259	+			73					B2RD38|Q5JPB7|Q9BS43	Missense_Mutation	SNP	ENST00000553645.2	37	c.218G>A	CCDS45134.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755419	0.15846	.	.	ENSG00000119661	ENST00000553645;ENST00000555919;ENST00000554871;ENST00000540526	T;T;T;T	0.61040	0.14;3.14;0.14;0.14	5.51	5.51	0.81932	.	0.043508	0.85682	D	0.000000	T	0.34629	0.0904	N	0.05230	-0.09	0.42385	D	0.992502	B	0.02656	0.0	B	0.08055	0.003	T	0.30327	-0.9982	10	0.06365	T	0.9	-14.6558	17.1759	0.86841	0.0:0.0:1.0:0.0	.	73	Q4LDG9	DNAL1_HUMAN	K	73;34;34;34	ENSP00000452037:R73K;ENSP00000451101:R34K;ENSP00000451834:R34K;ENSP00000439695:R34K	ENSP00000310360:R73K	R	+	2	0	DNAL1	73208007	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.951000	0.63610	2.580000	0.87095	0.453000	0.30009	AGG		0.224	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		3	6	0	0	0	1	0	3	6				
DLST	1743	broad.mit.edu	37	14	75348709	75348709	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:75348709C>T	ENST00000334220.4	+	1	114	c.53C>T	c.(52-54)gCc>gTc	p.A18V	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_5'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	18					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCGCTCTCCGCCTTCCAGAAG	0.731																																						ENST00000334220.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(52-54)gCc>gTc		dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)							13.0	11.0	11.0					14																	75348709		2188	4263	6451	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75348709C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.53C>T	14.37:g.75348709C>T	ENSP00000335304:p.Ala18Val					DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR	p.A18V	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	1	114	+			18					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.53C>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657723	0.88154	.	.	ENSG00000119689	ENST00000334220	T	0.16457	2.34	4.56	4.56	0.56223	.	0.053759	0.64402	D	0.000001	T	0.27559	0.0677	N	0.24115	0.695	0.80722	D	1	D;P;D	0.63880	0.993;0.483;0.993	D;B;D	0.72625	0.978;0.162;0.978	T	0.04723	-1.0931	10	0.72032	D	0.01	-42.0772	14.3658	0.66805	0.0:1.0:0.0:0.0	.	18;18;18	Q6IBS5;B7Z6J1;P36957	.;.;ODO2_HUMAN	V	18	ENSP00000335304:A18V	ENSP00000335304:A18V	A	+	2	0	DLST	74418462	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	5.345000	0.65987	2.346000	0.79739	0.591000	0.81541	GCC		0.731	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			7	6	0	0	0	1	0	7	6				
KRT83	3889	broad.mit.edu	37	12	52714879	52714879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52714879G>A	ENST00000293670.3	-	1	303	c.241C>T	c.(241-243)Cca>Tca	p.P81S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	81	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTGATGCATGGGGGGCTGGGT	0.692																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(241-243)Cca>Tca		keratin 83							82.0	84.0	83.0					12																	52714879		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714879G>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.241C>T	12.37:g.52714879G>A	ENSP00000293670:p.Pro81Ser						p.P81S	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	303	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		81			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.241C>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854223	0.71719	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	4.69	4.69	0.59074	.	0.000000	0.34555	U	0.003863	T	0.81216	0.4776	M	0.89414	3.03	0.45035	D	0.998052	P	0.48911	0.917	P	0.44447	0.45	D	0.84963	0.0878	10	0.46703	T	0.11	.	18.1693	0.89740	0.0:0.0:1.0:0.0	.	81	P78385	KRT83_HUMAN	S	81	ENSP00000293670:P81S	ENSP00000293670:P81S	P	-	1	0	KRT83	51001146	0.667000	0.27484	0.997000	0.53966	0.949000	0.60115	1.672000	0.37523	2.588000	0.87417	0.650000	0.86243	CCA		0.692	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		30	61	0	0	0	1	0	30	61				
KY	339855	broad.mit.edu	37	3	134322702	134322702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134322702G>A	ENST00000423778.2	-	11	1766	c.1705C>T	c.(1705-1707)Cct>Tct	p.P569S	KY_ENST00000508956.1_Missense_Mutation_p.P548S|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AAGCTCTCAGGGAACATGGGC	0.493																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1642-1644)Cct>Tct		kyphoscoliosis peptidase							67.0	66.0	66.0					3																	134322702		1978	4158	6136	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322702G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1705C>T	3.37:g.134322702G>A	ENSP00000397598:p.Pro569Ser					KY_ENST00000423778.2_Missense_Mutation_p.P569S|KY_ENST00000503669.1_3'UTR	p.P548S			Q8NBH2	KY_HUMAN			10	1699	-			0					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.1642C>T	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135210	0.77662	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.23348	1.91;1.91	5.84	5.84	0.93424	.	.	.	.	.	T	0.56247	0.1972	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57625	-0.7779	8	0.87932	D	0	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	548;569	Q8NBH2-3;Q8NBH2-4	.;.	S	548;569	ENSP00000421297:P548S;ENSP00000397598:P569S	ENSP00000397598:P569S	P	-	1	0	KY	135805392	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.159000	0.77483	2.768000	0.95171	0.561000	0.74099	CCT		0.493	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		11	36	0	0	0	1	0	11	36				
MPHOSPH6	10200	broad.mit.edu	37	16	82182459	82182459	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:82182459G>A	ENST00000258169.4	-	5	410	c.360C>T	c.(358-360)acC>acT	p.T120T	MPHOSPH6_ENST00000563504.1_Silent_p.T91T	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	120					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCCCCACCAAGGTCTCATATC	0.378																																						ENST00000258169.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(358-360)acC>acT		M-phase phosphoprotein 6							147.0	135.0	139.0					16																	82182459		2201	4300	6501	SO:0001819	synonymous_variant	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82182459G>A	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.360C>T	16.37:g.82182459G>A						MPHOSPH6_ENST00000563504.1_Silent_p.T91T	p.T120T	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN			5	410	-			120					B2RAF0	Silent	SNP	ENST00000258169.4	37	c.360C>T	CCDS10937.1																																																																																				0.378	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		48	84	0	0	0	1	0	48	84				
OR5M11	219487	broad.mit.edu	37	11	56309825	56309825	+	Silent	SNP	G	G	A	rs368658241		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56309825G>A	ENST00000528616.2	-	1	932	c.909C>T	c.(907-909)gtC>gtT	p.V303V		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TTCATCTCAGGACATTCTTCA	0.388																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(907-909)gtC>gtT		olfactory receptor, family 5, subfamily M, member 11							67.0	61.0	63.0					11																	56309825		1923	4140	6063	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309825G>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.909C>T	11.37:g.56309825G>A							p.V303V	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	932	-			303					B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.909C>T	CCDS53629.1																																																																																				0.388	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		11	17	0	0	0	1	0	11	17				
BIN1	274	broad.mit.edu	37	2	127825806	127825806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:127825806G>A	ENST00000316724.5	-	7	956	c.545C>T	c.(544-546)gCc>gTc	p.A182V	BIN1_ENST00000351659.3_Missense_Mutation_p.A182V|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.A182V|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	182	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCACTGGGGGGCGGCTTTCTC	0.577											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(544-546)gCc>gTc		bridging integrator 1							62.0	53.0	56.0					2																	127825806		2203	4300	6503	SO:0001583	missense	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127825806G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.545C>T	2.37:g.127825806G>A	ENSP00000316779:p.Ala182Val		OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1560	BIN1_ENST00000357970.3_Missense_Mutation_p.A182V|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.A182V|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000346226.3_Intron	p.A182V	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	956	-	Colorectal(110;0.0831)		182			BAR.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	c.545C>T	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	.	33	5.217790	0.95104	.	.	ENSG00000136717	ENST00000357970;ENST00000351659;ENST00000316724	T;T;T	0.65549	-0.15;0.43;-0.16	4.87	4.87	0.63330	BAR (3);	0.079937	0.52532	D	0.000068	T	0.72590	0.3479	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.69078	0.98;0.975;0.995;0.997	P;P;P;D	0.80764	0.828;0.672;0.861;0.994	T	0.71712	-0.4510	10	0.41790	T	0.15	-21.7084	16.9534	0.86251	0.0:0.0:1.0:0.0	.	182;182;182;182	B7Z2Z2;O00499-3;O00499-5;O00499	.;.;.;BIN1_HUMAN	V	182	ENSP00000350654:A182V;ENSP00000315388:A182V;ENSP00000316779:A182V	ENSP00000316779:A182V	A	-	2	0	BIN1	127542276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.437000	0.90302	2.532000	0.85374	0.549000	0.68633	GCC		0.577	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		7	13	0	0	0	1	0	7	13				
FAM208B	54906	broad.mit.edu	37	10	5772975	5772975	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5772975C>T	ENST00000328090.5	+	11	1638	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	338																	AGAGTTTTTCCATTGAGTCCA	0.453																																						ENST00000328090.5																			0											c.(1012-1014)cCa>cTa		family with sequence similarity 208, member B							65.0	66.0	66.0					10																	5772975		2045	4184	6229	SO:0001583	missense	54906							g.chr10:5772975C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.1013C>T	10.37:g.5772975C>T	ENSP00000328426:p.Pro338Leu					RP11-336A10.2_ENST00000411512.2_RNA	p.P338L	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			11	1638	+			338					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.1013C>T	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	6.148	0.395604	0.11638	.	.	ENSG00000108021	ENST00000328090	T	0.05382	3.45	5.61	3.57	0.40892	.	0.319965	0.27155	N	0.020661	T	0.05777	0.0151	L	0.38838	1.175	0.09310	N	1	B	0.21309	0.054	B	0.18263	0.021	T	0.27502	-1.0072	10	0.51188	T	0.08	.	7.9534	0.30027	0.1421:0.7008:0.0:0.1571	.	338	Q5VWN6	F208B_HUMAN	L	338	ENSP00000328426:P338L	ENSP00000328426:P338L	P	+	2	0	C10orf18	5812981	.	.	0.005000	0.12908	0.080000	0.17528	.	.	1.374000	0.46228	0.650000	0.86243	CCA		0.453	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		26	45	0	0	0	1	0	26	45				
TTC25	83538	broad.mit.edu	37	17	40091560	40091560	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40091560G>A	ENST00000591658.1	+	0	273							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				ATCCCTGAAGGATGCTGAGGC	0.527																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25							58.0	57.0	57.0					17																	40091560		1970	4157	6127			83538					cytoplasm	protein binding	g.chr17:40091560G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40091560G>A										Q96NG3	TTC25_HUMAN			0	273	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37			.	.	.	.	.	.	.	.	.	.	G	33	5.248830	0.95305	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.93375	3.41	0.41024	D	0.985108	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91002	0.4843	8	0.87932	D	0	-42.5654	20.1027	0.97880	0.0:0.0:1.0:0.0	.	69;69	C9JGW6;Q96NG3	.;TTC25_HUMAN	N	69	.	ENSP00000366763:D69N	D	+	1	0	AC091172.1	37345086	1.000000	0.71417	0.963000	0.40424	0.641000	0.38312	9.163000	0.94750	2.756000	0.94617	0.655000	0.94253	GAT		0.527	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		18	23	0	0	0	1	0	18	23				
AKAP4	8852	broad.mit.edu	37	X	49959015	49959015	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49959015C>T	ENST00000376056.2	-	5	472	c.322G>A	c.(322-324)Gat>Aat	p.D108N	AKAP4_ENST00000376058.2_Missense_Mutation_p.D108N|AKAP4_ENST00000376064.3_Missense_Mutation_p.D108N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.D117N					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGGAGATCACTGAGAAGC	0.453																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(322-324)Gat>Aat		A kinase (PRKA) anchor protein 4							64.0	50.0	55.0					X																	49959015		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49959015C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.322G>A	X.37:g.49959015C>T	ENSP00000365224:p.Asp108Asn					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D108N|AKAP4_ENST00000358526.2_Missense_Mutation_p.D117N|AKAP4_ENST00000376064.3_Missense_Mutation_p.D108N	p.D108N			Q5JQC9	AKAP4_HUMAN			5	472	-	Ovarian(276;0.236)		117						Missense_Mutation	SNP	ENST00000376056.2	37	c.322G>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682457	0.29872	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08	4.6	4.6	0.57074	.	0.000000	0.47852	D	0.000219	T	0.63117	0.2484	M	0.78801	2.425	0.23906	N	0.996504	D;D	0.89917	0.993;1.0	D;D	0.79108	0.977;0.992	T	0.57353	-0.7826	9	.	.	.	-14.4249	12.0419	0.53458	0.0:1.0:0.0:0.0	.	117;108	Q5JQC9;A6ND82	AKAP4_HUMAN;.	N	108;108;117;108;108;108	ENSP00000365224:D108N;ENSP00000365226:D108N;ENSP00000351327:D117N;ENSP00000365232:D108N;ENSP00000402403:D108N;ENSP00000412279:D108N	.	D	-	1	0	AKAP4	49845755	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	1.990000	0.40717	1.883000	0.54544	0.292000	0.19580	GAT		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		16	29	0	0	0	1	0	16	29				
ADCY1	107	broad.mit.edu	37	7	45744122	45744122	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:45744122G>A	ENST00000297323.7	+	17	2746	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	908					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAAGCTCATGGAAAAAGACT	0.498																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2722-2724)atG>atA		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						66.0	69.0	68.0					7																	45744122		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45744122G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2724G>A	7.37:g.45744122G>A	ENSP00000297323:p.Met908Ile						p.M908I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			17	2746	+			908					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2724G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553447	0.27739	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.22134	1.97	5.19	5.19	0.71726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	N	0.03294	-0.36	0.80722	D	1	B	0.25441	0.126	B	0.29524	0.103	T	0.20240	-1.0281	10	0.37606	T	0.19	.	16.6026	0.84820	0.0:0.0:1.0:0.0	.	908	Q08828	ADCY1_HUMAN	I	908	ENSP00000297323:M908I	ENSP00000297323:M908I	M	+	3	0	ADCY1	45710647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.044000	0.93805	2.865000	0.98341	0.655000	0.94253	ATG		0.498	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		22	49	0	0	0	1	0	22	49				
MLST8	64223	broad.mit.edu	37	16	2256574	2256574	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2256574G>A	ENST00000569417.1	+	4	612	c.258G>A	c.(256-258)aaG>aaA	p.K86K	MLST8_ENST00000382450.4_Silent_p.K85K|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Silent_p.K105K|MLST8_ENST00000301724.10_Silent_p.K86K|MLST8_ENST00000564088.1_Silent_p.K86K|MLST8_ENST00000397124.1_Silent_p.K86K|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000565250.1_Silent_p.K86K	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	86					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 actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.K86N(3)		large_intestine(3)|lung(2)|skin(1)	6						GCGTCAACAAGAACATCGCGT	0.582																																						ENST00000569417.1																			3	Substitution - Missense(3)	p.K86N(3)	large_intestine(3)	large_intestine(3)|lung(2)|skin(1)	6						c.(256-258)aaG>aaA		MTOR associated protein, LST8 homolog (S. cerevisiae)							180.0	183.0	182.0					16																	2256574		2092	4213	6305	SO:0001819	synonymous_variant	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2256574G>A		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.258G>A	16.37:g.2256574G>A						MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.K86K|MLST8_ENST00000382450.4_Silent_p.K85K|MLST8_ENST00000397124.1_Silent_p.K86K|MLST8_ENST00000301725.7_Silent_p.K105K|MLST8_ENST00000301724.10_Silent_p.K86K|MLST8_ENST00000565250.1_Silent_p.K86K	p.K86K	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			4	612	+			86					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Silent	SNP	ENST00000569417.1	37	c.258G>A	CCDS10462.2																																																																																				0.582	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		76	116	0	0	0	1	0	76	116				
OBFC1	79991	broad.mit.edu	37	10	105657400	105657400	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:105657400C>G	ENST00000224950.3	-	7	826	c.659G>C	c.(658-660)aGa>aCa	p.R220T	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.R220T	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	220	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GCTCTGCACTCTGTTCTCCAT	0.517																																						ENST00000224950.3																			0				large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13						c.(658-660)aGa>aCa		oligonucleotide/oligosaccharide-binding fold containing 1							118.0	105.0	109.0					10																	105657400		2203	4300	6503	SO:0001583	missense	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657400C>G	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.659G>C	10.37:g.105657400C>G	ENSP00000224950:p.Arg220Thr					OBFC1_ENST00000369764.1_Missense_Mutation_p.R220T|OBFC1_ENST00000466828.1_5'UTR	p.R220T	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	7	826	-		Colorectal(252;0.178)	220					D3DR99|Q5TCZ0	Missense_Mutation	SNP	ENST00000224950.3	37	c.659G>C	CCDS7552.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395234	0.25205	.	.	ENSG00000107960	ENST00000224950;ENST00000369764	T;T	0.44881	0.91;0.91	5.39	-1.58	0.08479	Domain of unknown function DUF1879, CTS complex STN1 subunit (1);	0.598437	0.18557	N	0.137746	T	0.24928	0.0605	L	0.28274	0.84	0.22745	N	0.998781	B	0.30563	0.285	B	0.31495	0.131	T	0.19712	-1.0297	10	0.25751	T	0.34	-2.0289	9.1109	0.36727	0.0:0.2706:0.0:0.7294	.	220	Q9H668	STN1_HUMAN	T	220	ENSP00000224950:R220T;ENSP00000358779:R220T	ENSP00000224950:R220T	R	-	2	0	OBFC1	105647390	0.996000	0.38824	0.950000	0.38849	0.806000	0.45545	0.075000	0.14686	-0.149000	0.11215	-0.157000	0.13467	AGA		0.517	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1	NM_024928		34	72	0	0	0	1	0	34	72				
ZSCAN1	284312	broad.mit.edu	37	19	58565258	58565258	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58565258G>A	ENST00000282326.1	+	6	1313	c.1066G>A	c.(1066-1068)Ggc>Agc	p.G356S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	356					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGAGCAAGGGCCCCCGGGA	0.662																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1066-1068)Ggc>Agc		zinc finger and SCAN domain containing 1							34.0	35.0	34.0					19																	58565258		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565258G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1066G>A	19.37:g.58565258G>A	ENSP00000282326:p.Gly356Ser						p.G356S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1313	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	356					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.1066G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	7.976	0.750224	0.15778	.	.	ENSG00000152467	ENST00000282326	T	0.04502	3.61	1.14	1.14	0.20703	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.20764	N	0.999858	B	0.24576	0.106	B	0.31101	0.124	T	0.47947	-0.9077	9	0.28530	T	0.3	.	3.398	0.07313	0.265:0.0:0.735:0.0	.	356	Q8NBB4	ZSCA1_HUMAN	S	356	ENSP00000282326:G356S	ENSP00000282326:G356S	G	+	1	0	ZSCAN1	63257070	0.000000	0.05858	0.040000	0.18447	0.049000	0.14656	-0.039000	0.12124	0.930000	0.37217	0.491000	0.48974	GGC		0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		25	18	0	0	0	1	0	25	18				
COLQ	8292	broad.mit.edu	37	3	15531139	15531139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:15531139G>A	ENST00000383788.5	-	2	237	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	COLQ_ENST00000383787.2_Missense_Mutation_p.P38S|COLQ_ENST00000383785.2_Missense_Mutation_p.P38S|COLQ_ENST00000435459.2_Missense_Mutation_p.P28S|COLQ_ENST00000383781.4_Missense_Mutation_p.P28S|COLQ_ENST00000603808.1_Missense_Mutation_p.P38S|COLQ_ENST00000383786.5_Missense_Mutation_p.P38S	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	38					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCCAGGCTGGGAAGGGCTGTT	0.612																																						ENST00000383785.2																			0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(112-114)Ccc>Tcc		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							78.0	60.0	66.0					3																	15531139		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15531139G>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.112C>T	3.37:g.15531139G>A	ENSP00000373298:p.Pro38Ser					COLQ_ENST00000383781.4_Missense_Mutation_p.P28S|COLQ_ENST00000603808.1_Missense_Mutation_p.P38S|COLQ_ENST00000383786.5_Missense_Mutation_p.P38S|COLQ_ENST00000383787.2_Missense_Mutation_p.P38S|COLQ_ENST00000435459.2_Missense_Mutation_p.P28S|COLQ_ENST00000383788.5_Missense_Mutation_p.P38S	p.P38S			Q9Y215	COLQ_HUMAN			2	237	-			38					B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.112C>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030919	0.35797	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	D;D;D;D;D;D	0.90844	-2.51;-2.7;-2.65;-2.7;-2.62;-2.74	5.31	5.31	0.75309	.	0.296186	0.33772	N	0.004563	D	0.93897	0.8047	L	0.60455	1.87	0.46298	D	0.998977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.994;0.996	D	0.94057	0.7323	10	0.62326	D	0.03	-8.2956	14.4789	0.67567	0.0:0.0:1.0:0.0	.	38;38;38;28	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	S	38;28;28;38;38;28;38;38;15	ENSP00000373297:P38S;ENSP00000373291:P28S;ENSP00000402511:P28S;ENSP00000373295:P38S;ENSP00000373298:P38S;ENSP00000373296:P38S	ENSP00000373291:P28S	P	-	1	0	COLQ	15506143	1.000000	0.71417	0.963000	0.40424	0.832000	0.47134	5.301000	0.65727	2.491000	0.84063	0.561000	0.74099	CCC		0.612	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677		11	19	0	0	0	1	0	11	19				
SPEN	23013	broad.mit.edu	37	1	16256527	16256527	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:16256527C>T	ENST00000375759.3	+	11	3996	c.3792C>T	c.(3790-3792)gtC>gtT	p.V1264V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1264					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCCAGTGTCCGACATGGTT	0.463																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(3790-3792)gtC>gtT		spen family transcriptional repressor							90.0	93.0	92.0					1																	16256527		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256527C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3792C>T	1.37:g.16256527C>T							p.V1264V	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	3996	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1264					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.3792C>T	CCDS164.1																																																																																				0.463	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		19	72	0	0	0	1	0	19	72				
KCNA4	3739	broad.mit.edu	37	11	30033107	30033107	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:30033107G>A	ENST00000328224.6	-	2	2352	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	373					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTGTTTCCACGATGAAGAAGG	0.468																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1117-1119)atC>atT		potassium voltage-gated channel, shaker-related subfamily, member 4							84.0	79.0	81.0					11																	30033107		2029	4203	6232	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033107G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1119C>T	11.37:g.30033107G>A							p.I373I	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2352	-			373						Silent	SNP	ENST00000328224.6	37	c.1119C>T	CCDS41629.1																																																																																				0.468	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		29	58	0	0	0	1	0	29	58				
TMEM135	65084	broad.mit.edu	37	11	87032374	87032374	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:87032374G>A	ENST00000305494.5	+	15	1415	c.1376G>A	c.(1375-1377)tGa>tAa	p.*459*	TMEM135_ENST00000340353.7_Silent_p.*437*|TMEM135_ENST00000535167.1_Silent_p.*320*|TMEM135_ENST00000532959.1_Silent_p.*330*	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	0					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGTTTTCCTGAAGATGACTG	0.403																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1309-1311)tGa>tAa		transmembrane protein 135							90.0	86.0	87.0					11																	87032374		2201	4299	6500	SO:0001819	synonymous_variant	65084					integral to membrane		g.chr11:87032374G>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.1376G>A	11.37:g.87032374G>A						TMEM135_ENST00000305494.5_Silent_p.*459*|TMEM135_ENST00000532959.1_Silent_p.*330*|TMEM135_ENST00000535167.1_Silent_p.*320*	p.*437*	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			14	1512	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	0					Q6AW91|Q8ND01|Q9H6M3	Silent	SNP	ENST00000305494.5	37	c.1310G>A	CCDS8280.1																																																																																				0.403	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		24	44	0	0	0	1	0	24	44				
C6orf118	168090	broad.mit.edu	37	6	165715438	165715438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165715438C>T	ENST00000230301.8	-	2	393	c.373G>A	c.(373-375)Gac>Aac	p.D125N	C6orf118_ENST00000543069.1_Missense_Mutation_p.D21N	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	125										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCGGGGTGTCCTGGGCCTCA	0.632																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(61-63)Gac>Aac		chromosome 6 open reading frame 118							68.0	72.0	71.0					6																	165715438		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715438C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.373G>A	6.37:g.165715438C>T	ENSP00000230301:p.Asp125Asn					C6orf118_ENST00000230301.8_Missense_Mutation_p.D125N	p.D21N			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	642	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	125					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.61G>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	1.150	-0.646821	0.03506	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13657	2.81;2.57	4.79	-4.75	0.03239	.	1.587990	0.03198	N	0.174393	T	0.02083	0.0065	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.36359	-0.9751	10	0.10377	T	0.69	.	12.0926	0.53736	0.0:0.6663:0.0:0.3337	.	125	Q5T5N4	CF118_HUMAN	N	125;21	ENSP00000230301:D125N;ENSP00000439288:D21N	ENSP00000230301:D125N	D	-	1	0	C6orf118	165635428	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.679000	0.05203	-0.905000	0.03871	-0.150000	0.13652	GAC		0.632	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		43	26	0	0	0	1	0	43	26				
CHRDL2	25884	broad.mit.edu	37	11	74414543	74414543	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:74414543G>A	ENST00000376332.3	-	8	1249	c.753C>T	c.(751-753)gcC>gcT	p.A251A	CHRDL2_ENST00000263671.5_Splice_Site_p.A251A|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	251	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CATGCACACAGGCTGAATAAG	0.657																																						ENST00000376332.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.e8-1		chordin-like 2							19.0	19.0	19.0					11																	74414543		2199	4290	6489	SO:0001630	splice_region_variant	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74414543G>A	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.752-1C>T	11.37:g.74414543G>A						CHRDL2_ENST00000263671.5_Splice_Site_p.A251_splice|CHRDL2_ENST00000534159.1_5'UTR	p.A251_splice	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN			8	1249	-	Hepatocellular(1;0.098)		251			VWFC 3.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Splice_Site	SNP	ENST00000376332.3	37	c.751_splice		.	.	.	.	.	.	.	.	.	.	G	14.05	2.418447	0.42918	.	.	ENSG00000054938	ENST00000525413	.	.	.	5.62	3.74	0.42951	.	.	.	.	.	T	0.54481	0.1861	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48581	-0.9023	4	.	.	.	.	5.5918	0.17305	0.1784:0.1628:0.6588:0.0	.	.	.	.	L	51	.	.	P	-	2	0	CHRDL2	74092191	0.924000	0.31332	1.000000	0.80357	0.917000	0.54804	0.029000	0.13666	0.716000	0.32124	0.462000	0.41574	CCT		0.657	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		Silent	8	10	0	0	0	1	0	8	10				
CD163	9332	broad.mit.edu	37	12	7633840	7633840	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7633840C>T	ENST00000359156.4	-	15	3462	c.3260G>A	c.(3259-3261)gGa>gAa	p.G1087E	CD163_ENST00000396620.3_Missense_Mutation_p.G1120E|CD163_ENST00000432237.2_Missense_Mutation_p.G1087E|CD163_ENST00000541972.1_Missense_Mutation_p.G1075E|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1087					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAAGTTCTCTCCTCTTGAGGA	0.423																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3259-3261)gGa>gAa		CD163 molecule							102.0	101.0	101.0					12																	7633840		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7633840C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3260G>A	12.37:g.7633840C>T	ENSP00000352071:p.Gly1087Glu					CD163_ENST00000432237.2_Missense_Mutation_p.G1087E|CD163_ENST00000396620.3_Missense_Mutation_p.G1120E|CD163_ENST00000541972.1_Missense_Mutation_p.G1075E	p.G1087E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			15	3462	-			1087					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3260G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444730	0.25987	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01209	5.18;5.19;5.17;5.19	4.61	1.53	0.23141	.	0.773939	0.11377	N	0.570251	T	0.02012	0.0063	L	0.29908	0.895	0.29609	N	0.847059	D;P;D	0.69078	0.997;0.944;0.997	P;P;P	0.61874	0.895;0.714;0.895	T	0.50972	-0.8764	10	0.34782	T	0.22	.	2.6249	0.04927	0.2802:0.4674:0.1551:0.0973	.	1120;1087;1087	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	1087;1075;1120;1087	ENSP00000352071:G1087E;ENSP00000444071:G1075E;ENSP00000379863:G1120E;ENSP00000403885:G1087E	ENSP00000352071:G1087E	G	-	2	0	CD163	7525107	0.975000	0.34042	0.993000	0.49108	0.689000	0.40095	0.662000	0.25038	0.651000	0.30788	0.455000	0.32223	GGA		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		36	52	0	0	0	1	0	36	52				
CUX1	1523	broad.mit.edu	37	7	101845343	101845343	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845343C>T	ENST00000292535.7	+	18	2804	c.2766C>T	c.(2764-2766)ccC>ccT	p.P922P	CUX1_ENST00000360264.3_Silent_p.P933P|CUX1_ENST00000549414.2_Silent_p.P900P|CUX1_ENST00000550008.2_Silent_p.P866P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Silent_p.P820P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.P764P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	922					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGTCCAAGCCCACCAAGCCCT	0.642																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2797-2799)ccC>ccT		cut-like homeobox 1							124.0	122.0	123.0					7																	101845343		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845343C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2766C>T	7.37:g.101845343C>T						CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.P866P|CUX1_ENST00000292535.7_Silent_p.P922P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.P900P|CUX1_ENST00000546411.2_Silent_p.P820P|CUX1_ENST00000556210.1_Silent_p.P764P	p.P933P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2819	+			922					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2799C>T	CCDS5721.1																																																																																				0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		40	91	0	0	0	1	0	40	91				
TSG101	7251	broad.mit.edu	37	11	18505528	18505528	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505528C>T	ENST00000251968.3	-	8	1147	c.732G>A	c.(730-732)gaG>gaA	p.E244E	TSG101_ENST00000357193.3_Silent_p.E139E|TSG101_ENST00000536719.1_Silent_p.E244E	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	244					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GATCCATTTCCTCCTTCATCC	0.522																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(730-732)gaG>gaA		tumor susceptibility 101							294.0	281.0	285.0					11																	18505528		2199	4293	6492	SO:0001819	synonymous_variant	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505528C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.732G>A	11.37:g.18505528C>T						TSG101_ENST00000357193.3_Silent_p.E139E|TSG101_ENST00000251968.3_Silent_p.E244E	p.E244E			Q99816	TS101_HUMAN			8	866	-			244					Q9BUM5	Silent	SNP	ENST00000251968.3	37	c.732G>A	CCDS7842.1																																																																																				0.522	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		79	204	0	0	0	1	0	79	204				
RREB1	6239	broad.mit.edu	37	6	7232113	7232113	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7232113C>T	ENST00000349384.6	+	10	4095	c.3781C>T	c.(3781-3783)Cta>Tta	p.L1261L	RREB1_ENST00000379938.2_Silent_p.L1261L|RREB1_ENST00000379933.3_Silent_p.L1261L|RREB1_ENST00000334984.6_Silent_p.L1261L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1261					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGCCAGCTCCCTACAGAGGCA	0.602																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3781-3783)Cta>Tta		ras responsive element binding protein 1							51.0	39.0	43.0					6																	7232113		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7232113C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3781C>T	6.37:g.7232113C>T						RREB1_ENST00000334984.6_Silent_p.L1261L|RREB1_ENST00000349384.6_Silent_p.L1261L|RREB1_ENST00000379933.3_Silent_p.L1261L	p.L1261L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	4318	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1261					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.3781C>T	CCDS34336.1																																																																																				0.602	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			16	12	0	0	0	1	0	16	12				
POTEC	388468	broad.mit.edu	37	18	14511982	14511982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:14511982C>T	ENST00000358970.5	-	11	1543	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	515										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTTCTTATGACTAAGAGAAAG	0.323																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1543-1545)aGt>aAt		POTE ankyrin domain family, member C							40.0	32.0	34.0					18																	14511982		692	1588	2280	SO:0001583	missense	388468							g.chr18:14511982C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1544G>A	18.37:g.14511982C>T	ENSP00000351856:p.Ser515Asn						p.S515N	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			11	1543	-			515						Missense_Mutation	SNP	ENST00000358970.5	37	c.1544G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	3.326	-0.137798	0.06711	.	.	ENSG00000183206	ENST00000358970	T	0.32515	1.45	1.44	-0.677	0.11357	.	.	.	.	.	T	0.20577	0.0495	L	0.49350	1.555	0.09310	N	1	B	0.21225	0.053	B	0.12837	0.008	T	0.29882	-0.9997	9	0.32370	T	0.25	.	0.5354	0.00636	0.2458:0.3275:0.2438:0.1829	.	515	B2RU33	POTEC_HUMAN	N	515	ENSP00000351856:S515N	ENSP00000351856:S515N	S	-	2	0	POTEC	14501982	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-0.937000	0.03942	-0.247000	0.09597	0.205000	0.17691	AGT		0.323	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		10	16	0	0	0	1	0	10	16				
CNTN6	27255	broad.mit.edu	37	3	1339609	1339609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:1339609G>A	ENST00000446702.2	+	7	1322	c.695G>A	c.(694-696)cGt>cAt	p.R232H	CNTN6_ENST00000539053.1_Missense_Mutation_p.R160H|CNTN6_ENST00000350110.2_Missense_Mutation_p.R232H			Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTGAAGTGCGTTTTCCTGAA	0.358																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(694-696)cGt>cAt		contactin 6							130.0	137.0	135.0					3																	1339609		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1339609G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.695G>A	3.37:g.1339609G>A	ENSP00000407822:p.Arg232His					CNTN6_ENST00000539053.1_Missense_Mutation_p.R160H|CNTN6_ENST00000350110.2_Missense_Mutation_p.R232H	p.R232H			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	7	1322	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	232			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.695G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	9.943	1.217903	0.22373	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.78595	-1.19;-1.19;-1.19	4.95	3.16	0.36331	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.80132	0.4567	L	0.38175	1.15	0.38134	D	0.938246	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77613	-0.2522	10	0.32370	T	0.25	.	10.2067	0.43118	0.1825:0.0:0.8175:0.0	.	160;232	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	H	232;160;232	ENSP00000407822:R232H;ENSP00000442791:R160H;ENSP00000341882:R232H	ENSP00000341882:R232H	R	+	2	0	CNTN6	1314609	0.980000	0.34600	1.000000	0.80357	0.999000	0.98932	1.506000	0.35747	0.608000	0.30000	0.650000	0.86243	CGT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		31	77	0	0	0	1	0	31	77				
HEPH	9843	broad.mit.edu	37	X	65413359	65413359	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:65413359T>A	ENST00000343002.2	+	7	1912	c.1248T>A	c.(1246-1248)ttT>ttA	p.F416L	HEPH_ENST00000419594.1_Missense_Mutation_p.F419L|HEPH_ENST00000374727.3_Missense_Mutation_p.F419L|HEPH_ENST00000441993.2_Missense_Mutation_p.F419L|HEPH_ENST00000336279.5_Missense_Mutation_p.F149L|HEPH_ENST00000519389.1_Missense_Mutation_p.F470L			Q9BQS7	HEPH_HUMAN	hephaestin	416	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGATAAGTTTTTCCAGAAGA	0.388																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1408-1410)ttT>ttA		hephaestin							37.0	34.0	35.0					X																	65413359		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413359T>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1248T>A	X.37:g.65413359T>A	ENSP00000343939:p.Phe416Leu					HEPH_ENST00000374727.3_Missense_Mutation_p.F419L|HEPH_ENST00000343002.2_Missense_Mutation_p.F416L|HEPH_ENST00000336279.5_Missense_Mutation_p.F149L|HEPH_ENST00000419594.1_Missense_Mutation_p.F419L|HEPH_ENST00000441993.2_Missense_Mutation_p.F419L	p.F470L			Q9BQS7	HEPH_HUMAN			8	1589	+			416			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1410T>A		.	.	.	.	.	.	.	.	.	.	T	14.68	2.607856	0.46527	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2	5.39	3.62	0.41486	Cupredoxin (2);	0.051229	0.85682	D	0.000000	D	0.98327	0.9445	M	0.77103	2.36	0.30847	N	0.735076	P;B;P	0.51147	0.942;0.376;0.826	P;B;B	0.55615	0.78;0.097;0.297	D	0.96645	0.9477	10	0.52906	T	0.07	.	6.8588	0.24056	0.0:0.6202:0.0:0.3798	.	470;419;416	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	L	470;419;149;419;419;416;416	ENSP00000430620:F470L;ENSP00000363859:F419L;ENSP00000337418:F149L;ENSP00000411687:F419L;ENSP00000413211:F419L;ENSP00000343939:F416L;ENSP00000398078:F416L	ENSP00000337418:F149L	F	+	3	2	HEPH	65330084	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	1.163000	0.31798	0.471000	0.27319	-0.293000	0.09583	TTT		0.388	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		20	32	0	0	0	1	0	20	32				
SVEP1	79987	broad.mit.edu	37	9	113173407	113173407	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113173407G>A	ENST00000401783.2	-	37	6920	c.6584C>T	c.(6583-6585)cCt>cTt	p.P2195L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P121L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2195	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CGTCGGTATAGGACTACTCCA	0.502																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(6583-6585)cCt>cTt		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							105.0	110.0	108.0					9																	113173407		1962	4144	6106	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173407G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6584C>T	9.37:g.113173407G>A	ENSP00000384917:p.Pro2195Leu					SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121L	p.P2195L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			37	6920	-			2195			Sushi 13.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6584C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	3.602	-0.081416	0.07141	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65732	-0.17;-0.17;-0.17	6.01	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.394926	0.29822	N	0.011115	T	0.52403	0.1732	L	0.39514	1.22	0.45554	D	0.998509	B	0.30146	0.27	B	0.31812	0.136	T	0.48736	-0.9009	10	0.33940	T	0.23	.	11.3905	0.49811	0.0:0.2621:0.6338:0.1041	.	2195	Q4LDE5	SVEP1_HUMAN	L	2195;2172;121	ENSP00000384917:P2195L;ENSP00000363593:P2172L;ENSP00000297826:P121L	ENSP00000297826:P121L	P	-	2	0	SVEP1	112213228	0.266000	0.24112	0.980000	0.43619	0.735000	0.41995	0.549000	0.23329	2.860000	0.98153	0.543000	0.68304	CCT		0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	22	0	0	0	1	0	29	22				
CADPS2	93664	broad.mit.edu	37	7	122047602	122047602	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:122047602C>T	ENST00000449022.2	-	20	2757	c.2738G>A	c.(2737-2739)cGa>cAa	p.R913Q	CADPS2_ENST00000412584.2_Missense_Mutation_p.R907Q|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.R907Q|CADPS2_ENST00000334010.7_Missense_Mutation_p.R911Q|RP5-1101C3.1_ENST00000593910.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	913	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACTGTCATTTCGGAGGAAATT	0.443																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2731-2733)cGa>cAa		Ca++-dependent secretion activator 2							39.0	38.0	38.0					7																	122047602		1970	4168	6138	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122047602C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2738G>A	7.37:g.122047602C>T	ENSP00000398481:p.Arg913Gln					RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R907Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.R913Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.R907Q	p.R911Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			18	3153	-			913			Interaction with DRD2.|MHD1.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2732G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.780483|3.780483	0.70222|0.70222	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000462699|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.36878	.|1.23;1.23;1.23;1.23	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Munc13 homology 1 (1);	.|0.060753	.|0.64402	.|D	.|0.000007	T|T	0.41026|0.41026	0.1141|0.1141	M|M	0.71581|0.71581	2.175|2.175	0.54753|0.54753	D|D	0.999984|0.999984	.|B;P;B;B	.|0.34892	.|0.277;0.474;0.277;0.168	.|B;B;B;B	.|0.30105	.|0.016;0.111;0.014;0.029	T|T	0.47005|0.47005	-0.9150|-0.9150	5|10	.|0.62326	.|D	.|0.03	-16.5097|-16.5097	18.9775|18.9775	0.92743|0.92743	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|917;907;913;907	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3	.|.;.;CAPS2_HUMAN;.	K|Q	107|86;907;911;918;874;907;913	.|ENSP00000325581:R907Q;ENSP00000333940:R911Q;ENSP00000400401:R907Q;ENSP00000398481:R913Q	.|ENSP00000325581:R907Q	E|R	-|-	1|2	0|0	CADPS2|CADPS2	121834838|121834838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.015000|6.015000	0.70791|0.70791	2.558000|2.558000	0.86282|0.86282	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.443	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		8	10	0	0	0	1	0	8	10				
CFAP46	54777	broad.mit.edu	37	10	134648169	134648169	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:134648169G>A	ENST00000368586.5	-	48	6955	c.6855C>T	c.(6853-6855)ctC>ctT	p.L2285L	TTC40_ENST00000263170.5_Silent_p.L446L	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCCTTGGAGAGGCTGAGCA	0.642																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(6853-6855)ctC>ctT		tetratricopeptide repeat domain 40							38.0	39.0	38.0					10																	134648169		2203	4300	6503	SO:0001819	synonymous_variant	54777							g.chr10:134648169G>A																												ENST00000368586.5:c.6855C>T	10.37:g.134648169G>A						TTC40_ENST00000263170.5_Silent_p.L446L	p.L2285L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			48	6955	-			446						Silent	SNP	ENST00000368586.5	37	c.6855C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306973	0.05458	.	.	ENSG00000171811	ENST00000448925	.	.	.	3.58	0.295	0.15752	.	.	.	.	.	T	0.22975	0.0555	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	3.286	0.06932	0.2946:0.2206:0.4848:0.0	.	.	.	.	F	54	.	.	S	-	2	0	C10orf93	134498159	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	0.816000	0.27267	-0.014000	0.14175	-0.361000	0.07541	TCT		0.642	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			11	11	0	0	0	1	0	11	11				
MFHAS1	9258	broad.mit.edu	37	8	8750010	8750010	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:8750010C>T	ENST00000276282.6	-	1	1145	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	187										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGATCCACGTCCAGGGTGCGC	0.687																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(559-561)Gac>Aac		malignant fibrous histiocytoma amplified sequence 1							22.0	26.0	24.0					8																	8750010		2196	4294	6490	SO:0001583	missense	9258							g.chr8:8750010C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.559G>A	8.37:g.8750010C>T	ENSP00000276282:p.Asp187Asn						p.D187N	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1145	-		Hepatocellular(245;0.217)	187					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.559G>A	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766854	0.69878	.	.	ENSG00000147324	ENST00000276282	T	0.57907	0.37	5.29	4.4	0.53042	.	0.063358	0.64402	D	0.000011	T	0.56470	0.1987	L	0.46741	1.465	0.80722	D	1	P	0.42941	0.794	P	0.54924	0.764	T	0.51387	-0.8712	10	0.07030	T	0.85	.	14.3304	0.66553	0.1496:0.8504:0.0:0.0	.	187	Q9Y4C4	MFHA1_HUMAN	N	187	ENSP00000276282:D187N	ENSP00000276282:D187N	D	-	1	0	MFHAS1	8787420	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	4.694000	0.61760	1.198000	0.43158	-0.309000	0.09137	GAC		0.687	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		8	9	0	0	0	1	0	8	9				
VPRBP	9730	broad.mit.edu	37	3	51440675	51440675	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51440675G>A	ENST00000335891.5	-	16	3029	c.3020C>T	c.(3019-3021)cCc>cTc	p.P1007L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1456					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCATCAGAGGGAGAGAAGTC	0.532																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(3019-3021)cCc>cTc		Vpr (HIV-1) binding protein							147.0	148.0	147.0					3																	51440675		2137	4249	6386	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51440675G>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.3020C>T	3.37:g.51440675G>A	ENSP00000338857:p.Pro1007Leu						p.P1007L			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	16	3029	-			1456					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.3020C>T		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349251	0.61183	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.55413	0.52;0.52	5.74	5.74	0.90152	.	0.152914	0.64402	D	0.000012	T	0.47655	0.1457	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.46718	0.525	T	0.31251	-0.9950	10	0.25106	T	0.35	-9.2664	19.9186	0.97074	0.0:0.0:1.0:0.0	.	1456	Q9Y4B6	VPRBP_HUMAN	L	1027;1007	ENSP00000393183:P1027L;ENSP00000338857:P1007L	ENSP00000338857:P1007L	P	-	2	0	VPRBP	51415715	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	6.696000	0.74598	2.716000	0.92895	0.557000	0.71058	CCC		0.532	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		14	16	0	0	0	1	0	14	16				
C16orf70	80262	broad.mit.edu	37	16	67154023	67154023	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67154023C>T	ENST00000219139.3	+	2	261	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	C16orf70_ENST00000569600.1_Silent_p.L25L|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	25										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGAATGCCTCTGGCTCAGGC	0.458																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(73-75)Ctg>Ttg		chromosome 16 open reading frame 70							140.0	129.0	132.0					16																	67154023		2200	4300	6500	SO:0001819	synonymous_variant	80262							g.chr16:67154023C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.73C>T	16.37:g.67154023C>T						C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.L25L	p.L25L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	2	261	+		Ovarian(137;0.192)	25					Q9HA86	Silent	SNP	ENST00000219139.3	37	c.73C>T	CCDS10828.1																																																																																				0.458	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		45	61	0	0	0	1	0	45	61				
WDR17	116966	broad.mit.edu	37	4	177089908	177089908	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:177089908G>A	ENST00000280190.4	+	25	3349	c.3193G>A	c.(3193-3195)Gaa>Aaa	p.E1065K	WDR17_ENST00000507824.2_Missense_Mutation_p.E1040K|WDR17_ENST00000508596.1_Missense_Mutation_p.E1026K|WDR17_ENST00000393643.2_Missense_Mutation_p.E1041K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1065										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGGATGTACTGAAGAGATAAA	0.338																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3121-3123)Gaa>Aaa		WD repeat domain 17							132.0	127.0	129.0					4																	177089908		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177089908G>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3193G>A	4.37:g.177089908G>A	ENSP00000280190:p.Glu1065Lys					WDR17_ENST00000508596.1_Missense_Mutation_p.E1026K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1065K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1040K	p.E1041K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	24	3373	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1065					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3121G>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978810	0.74360	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.58797	0.34;0.37;0.31	5.1	5.1	0.69264	.	0.062472	0.64402	D	0.000009	T	0.56587	0.1995	L	0.56769	1.78	0.38443	D	0.946757	B;B;B	0.33000	0.393;0.393;0.393	B;B;B	0.30646	0.08;0.118;0.118	T	0.62923	-0.6751	10	0.54805	T	0.06	-31.9069	18.6954	0.91599	0.0:0.0:1.0:0.0	.	1041;1026;1065	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	K	1026;1041;1065;1041	ENSP00000422763:E1026K;ENSP00000377258:E1041K;ENSP00000280190:E1065K	ENSP00000280190:E1065K	E	+	1	0	WDR17	177326902	1.000000	0.71417	0.852000	0.33557	0.908000	0.53690	8.926000	0.92839	2.647000	0.89833	0.591000	0.81541	GAA		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			30	43	0	0	0	1	0	30	43				
SDR9C7	121214	broad.mit.edu	37	12	57324258	57324258	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57324258G>A	ENST00000293502.1	-	2	455	c.312C>T	c.(310-312)gcC>gcT	p.A104A		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	104					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGTTCACCAGGGCCCAGAGGC	0.562																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(310-312)gcC>gcT		short chain dehydrogenase/reductase family 9C, member 7							50.0	47.0	48.0					12																	57324258		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57324258G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.312C>T	12.37:g.57324258G>A							p.A104A	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			2	455	-			104					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.312C>T	CCDS8926.1																																																																																				0.562	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		17	26	0	0	0	1	0	17	26				
VIPR2	7434	broad.mit.edu	37	7	158896490	158896490	+	Silent	SNP	G	G	A	rs186398445		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:158896490G>A	ENST00000262178.2	-	4	500	c.315C>T	c.(313-315)ttC>ttT	p.F105F	VIPR2_ENST00000402066.1_Silent_p.F246F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	105					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGCATCGACGAAATCTGGGA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19899	0.0		0.001	False		,,,				2504	0.0				Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(313-315)ttC>ttT		vasoactive intestinal peptide receptor 2							217.0	179.0	192.0					7																	158896490		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158896490G>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.315C>T	7.37:g.158896490G>A						VIPR2_ENST00000402066.1_Silent_p.F246F	p.F105F	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	4	500	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	105					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.315C>T	CCDS5950.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.014	-0.687106	0.03328	.	.	ENSG00000106018	ENST00000418475	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	T	0.60143	0.2246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56986	-0.7888	4	.	.	.	.	9.8624	0.41123	0.1004:0.0:0.8996:0.0	.	.	.	.	C	101	.	.	R	-	1	0	VIPR2	158589251	0.994000	0.37717	0.309000	0.25155	0.002000	0.02628	2.542000	0.45744	2.458000	0.83093	0.563000	0.77884	CGT		0.498	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		30	39	0	0	0	1	0	30	39				
KIFC1	3833	broad.mit.edu	37	6	33371888	33371888	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:33371888C>T	ENST00000428849.2	+	6	1188	c.738C>T	c.(736-738)tcC>tcT	p.S246S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	246					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACTGATGTCCCAACTAGAGG	0.567																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(736-738)tcC>tcT		kinesin family member C1							65.0	65.0	65.0					6																	33371888		2203	4300	6503	SO:0001819	synonymous_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371888C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.738C>T	6.37:g.33371888C>T							p.S246S	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			6	1188	+			246					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	37	c.738C>T	CCDS34430.1																																																																																				0.567	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		5	28	0	0	0	1	0	5	28				
PHF12	57649	broad.mit.edu	37	17	27240232	27240232	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:27240232G>A	ENST00000332830.4	-	9	2167	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	PHF12_ENST00000577226.1_Missense_Mutation_p.P453S|PHF12_ENST00000268756.3_Missense_Mutation_p.P453S|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATGCGAAGGCATCTGCTTA	0.498																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1357-1359)Cct>Tct		PHD finger protein 12							149.0	139.0	143.0					17																	27240232		2203	4300	6503	SO:0001583	missense	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27240232G>A	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1357C>T	17.37:g.27240232G>A	ENSP00000329933:p.Pro453Ser					PHF12_ENST00000332830.4_Missense_Mutation_p.P453S|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453S	p.P453S			Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		9	1703	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		453			Interaction with SIN3A.			Missense_Mutation	SNP	ENST00000332830.4	37	c.1357C>T	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	G	8.811	0.935238	0.18206	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94497	-3.37;-3.44;-3.43	5.76	5.76	0.90799	.	0.103897	0.64402	D	0.000003	D	0.90120	0.6913	L	0.33485	1.01	0.49389	D	0.999782	B;B;B;B;B	0.25772	0.015;0.026;0.134;0.003;0.015	B;B;B;B;B	0.23852	0.006;0.014;0.049;0.001;0.006	D	0.86111	0.1562	10	0.22109	T	0.4	-11.9061	14.3127	0.66426	0.0:0.0:0.851:0.149	.	435;453;453;453;453	B4DFE2;Q96QT6-2;Q2TAK2;C9J9G2;Q96QT6	.;.;.;.;PHF12_HUMAN	S	453	ENSP00000329933:P453S;ENSP00000368157:P453S;ENSP00000268756:P453S	ENSP00000268756:P453S	P	-	1	0	PHF12	24264358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.006000	0.40874	2.724000	0.93272	0.563000	0.77884	CCT		0.498	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		53	76	0	0	0	1	0	53	76				
MYO7B	4648	broad.mit.edu	37	2	128324382	128324382	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128324382G>A	ENST00000409816.2	+	4	482	c.450G>A	c.(448-450)agG>agA	p.R150R	MYO7B_ENST00000428314.1_Silent_p.R150R|MYO7B_ENST00000389524.4_Silent_p.R150R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	150	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAACAAGAGGGACCAGTGCT	0.587																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(448-450)agG>agA		myosin VIIB							49.0	52.0	51.0					2																	128324382		2149	4255	6404	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128324382G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.450G>A	2.37:g.128324382G>A						MYO7B_ENST00000428314.1_Silent_p.R150R|MYO7B_ENST00000409816.2_Silent_p.R150R	p.R150R			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	5	503	+	Colorectal(110;0.1)		150			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.450G>A	CCDS46405.1																																																																																				0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		11	16	0	0	0	1	0	11	16				
AFAP1L2	84632	broad.mit.edu	37	10	116060388	116060388	+	Missense_Mutation	SNP	C	C	T	rs17852236		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:116060388C>T	ENST00000304129.4	-	14	1633	c.1604G>A	c.(1603-1605)cGa>cAa	p.R535Q	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R588Q|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Missense_Mutation_p.R535Q			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	535					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CAGGTACACTCGGTCAGATTC	0.577																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1603-1605)cGa>cAa		actin filament associated protein 1-like 2							117.0	104.0	109.0					10																	116060388		2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060388C>T	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1604G>A	10.37:g.116060388C>T	ENSP00000303042:p.Arg535Gln					AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R588Q|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R535Q|AFAP1L2_ENST00000491814.1_5'UTR	p.R535Q	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	14	1904	-		Colorectal(252;0.175)|Breast(234;0.231)	535					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1604G>A	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	C	37	6.043512	0.97231	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.18174	2.27;2.27;2.23	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.74881	2.28	0.53688	D	0.999977	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;P	0.91635	0.984;0.999;0.964;0.989;0.965;0.955;0.902	T	0.08700	-1.0709	10	0.19147	T	0.46	-10.2857	18.1565	0.89693	0.0:1.0:0.0:0.0	rs17852236;rs17853172	588;101;589;57;563;535;535	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	Q	535;535;562;588	ENSP00000358276:R535Q;ENSP00000303042:R535Q;ENSP00000444511:R588Q	ENSP00000303042:R535Q	R	-	2	0	AFAP1L2	116050378	1.000000	0.71417	0.802000	0.32245	0.813000	0.45954	4.464000	0.60134	2.713000	0.92767	0.655000	0.94253	CGA		0.577	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		23	36	0	0	0	1	0	23	36				
GPR98	84059	broad.mit.edu	37	5	90445960	90445960	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90445960C>T	ENST00000405460.2	+	88	18642	c.18546C>T	c.(18544-18546)ttC>ttT	p.F6182F	GPR98_ENST00000425867.2_Silent_p.F1843F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6182					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGCCTTTTTCACGCCCGGGA	0.507																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(18544-18546)ttC>ttT		G protein-coupled receptor 98							72.0	71.0	71.0					5																	90445960		1957	4162	6119	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90445960C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18546C>T	5.37:g.90445960C>T						GPR98_ENST00000425867.2_Silent_p.F1843F	p.F6182F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	88	18642	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6182					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.18546C>T	CCDS47246.1																																																																																				0.507	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	9	0	0	0	1	0	3	9				
KCNN2	3781	broad.mit.edu	37	5	113822857	113822857	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:113822857C>T	ENST00000512097.3	+	7	2383	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	KCNN2_ENST00000503706.1_Silent_p.F107F|KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Silent_p.F455F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	455	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AACGAAAATTCCTGCAAGCTA	0.328																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1363-1365)ttC>ttT		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							91.0	88.0	89.0					5																	113822857		2202	4300	6502	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113822857C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1365C>T	5.37:g.113822857C>T						KCNN2_ENST00000264773.3_Silent_p.F455F|KCNN2_ENST00000503706.1_Silent_p.F107F|KCNN2_ENST00000507750.1_3'UTR	p.F455F			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	7	2383	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	455			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.1365C>T	CCDS4114.1																																																																																				0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		23	43	0	0	0	1	0	23	43				
PASD1	139135	broad.mit.edu	37	X	150832782	150832782	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150832782G>A	ENST00000370357.4	+	11	1278	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	345						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCCAGAGGACTCAGTGGA	0.592																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1033-1035)Gac>Aac		PAS domain containing 1							56.0	53.0	54.0					X																	150832782		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832782G>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1033G>A	X.37:g.150832782G>A	ENSP00000359382:p.Asp345Asn						p.D345N	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1278	+	Acute lymphoblastic leukemia(192;6.56e-05)		345					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1033G>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	7.355	0.623648	0.14193	.	.	ENSG00000166049	ENST00000370357	T	0.36878	1.23	2.18	0.297	0.15762	.	.	.	.	.	T	0.16128	0.0388	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25537	-1.0129	9	0.22706	T	0.39	.	2.5057	0.04645	0.1824:0.0:0.532:0.2856	.	345	Q8IV76	PASD1_HUMAN	N	345	ENSP00000359382:D345N	ENSP00000359382:D345N	D	+	1	0	PASD1	150583438	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.192000	0.17096	-0.035000	0.13691	-1.007000	0.02485	GAC		0.592	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		39	37	0	0	0	1	0	39	37				
THSD7A	221981	broad.mit.edu	37	7	11501730	11501730	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11501730G>A	ENST00000423059.4	-	10	2660	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	803	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCAGCTGAATGATGACCCGAT	0.502										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2407-2409)atC>atT		thrombospondin, type I, domain containing 7A							119.0	118.0	118.0					7																	11501730		1980	4142	6122	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11501730G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2409C>T	7.37:g.11501730G>A		HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.I803I	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	10	2660	-			803			TSP type-1 8.			Silent	SNP	ENST00000423059.4	37	c.2409C>T	CCDS47543.1																																																																																				0.502	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		52	47	0	0	0	1	0	52	47				
COLGALT2	23127	broad.mit.edu	37	1	183908159	183908159	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:183908159C>T	ENST00000361927.4	-	12	1988	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	COLGALT2_ENST00000367520.3_Silent_p.K276K|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000367521.1_Silent_p.K147K|COLGALT2_ENST00000486375.1_Intron	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	539					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CATAATACTCCTTGTACTCGG	0.547																																						ENST00000361927.4																			0											c.(1615-1617)aaG>aaA		collagen beta(1-O)galactosyltransferase 2							65.0	66.0	65.0					1																	183908159		2203	4300	6503	SO:0001819	synonymous_variant	23127							g.chr1:183908159C>T	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.1617G>A	1.37:g.183908159C>T						COLGALT2_ENST00000367521.1_Silent_p.K147K|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367520.3_Silent_p.K276K	p.K539K	NM_015101.2	NP_055916.1					12	1988	-								O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.1617G>A	CCDS1360.1																																																																																				0.547	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		18	18	0	0	0	1	0	18	18				
CMTM5	116173	broad.mit.edu	37	14	23848307	23848307	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23848307G>A	ENST00000339180.4	+	4	764	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.R65Q|CMTM5_ENST00000359320.3_Missense_Mutation_p.R116Q|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000555731.1_Missense_Mutation_p.R78Q			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	183	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GTGACCTCCCGGGACGGAGCT	0.577																																						ENST00000359320.3																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8						c.(346-348)cGg>cAg		CKLF-like MARVEL transmembrane domain containing 5							89.0	75.0	80.0					14																	23848307		2203	4300	6503	SO:0001583	missense	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23848307G>A	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.548G>A	14.37:g.23848307G>A	ENSP00000344819:p.Arg183Gln					CMTM5_ENST00000555731.1_Missense_Mutation_p.R78Q|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.R183Q|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.R65Q	p.R116Q	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	3	791	+	all_cancers(95;2e-05)		183			MARVEL.		E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.347G>A		.	.	.	.	.	.	.	.	.	.	G	19.56	3.851330	0.71719	.	.	ENSG00000166091	ENST00000359320;ENST00000339180;ENST00000397227;ENST00000555731	T;T;T	0.47528	1.82;0.84;0.93	5.45	3.59	0.41128	Marvel (1);	0.562321	0.16216	N	0.224264	T	0.63838	0.2545	.	.	.	0.80722	D	1	B;P;B;D	0.89917	0.305;0.766;0.305;1.0	B;B;B;D	0.65233	0.054;0.079;0.073;0.933	T	0.62845	-0.6768	9	0.59425	D	0.04	-0.3083	9.5773	0.39465	0.0744:0.2727:0.6529:0.0	.	78;183;65;116	C9JAI6;Q96DZ9;Q96DZ9-5;Q96DZ9-2	.;CKLF5_HUMAN;.;.	Q	116;183;65;78	ENSP00000352270:R116Q;ENSP00000344819:R183Q;ENSP00000451514:R78Q	ENSP00000344819:R183Q	R	+	2	0	CMTM5	22918147	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	2.742000	0.47434	0.756000	0.33013	-0.304000	0.09214	CGG		0.577	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2			8	20	0	0	0	1	0	8	20				
ST3GAL5	8869	broad.mit.edu	37	2	86071528	86071528	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:86071528G>A	ENST00000377332.3	-	6	1107	c.999C>T	c.(997-999)ggC>ggT	p.G333G	ST3GAL5_ENST00000393805.1_Silent_p.G305G|ST3GAL5_ENST00000393808.3_Silent_p.G310G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	333					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCTTATCTCGGCCCCAGAACC	0.428																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(997-999)ggC>ggT		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							91.0	89.0	90.0					2																	86071528		2203	4300	6503	SO:0001819	synonymous_variant	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86071528G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.999C>T	2.37:g.86071528G>A						ST3GAL5_ENST00000393808.3_Silent_p.G310G|ST3GAL5_ENST00000393805.1_Silent_p.G305G	p.G333G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			6	1107	-			333					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Silent	SNP	ENST00000377332.3	37	c.999C>T	CCDS1986.2																																																																																				0.428	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		23	29	0	0	0	1	0	23	29				
ZFHX3	463	broad.mit.edu	37	16	72822416	72822416	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72822416G>A	ENST00000268489.5	-	10	10431	c.9759C>T	c.(9757-9759)ccC>ccT	p.P3253P	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.P2339P|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3253					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGACAGGCAGGGGTTCCCCTT	0.582																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9757-9759)ccC>ccT		zinc finger homeobox 3							126.0	139.0	135.0					16																	72822416		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822416G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9759C>T	16.37:g.72822416G>A						ZFHX3_ENST00000397992.5_Silent_p.P2339P	p.P3253P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10431	-		Ovarian(137;0.13)	3253					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.9759C>T	CCDS10908.1																																																																																				0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		67	128	0	0	0	1	0	67	128				
RCAN2	10231	broad.mit.edu	37	6	46216488	46216488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:46216488C>T	ENST00000330430.6	-	2	421	c.233G>A	c.(232-234)gGg>gAg	p.G78E	RCAN2_ENST00000371374.1_Missense_Mutation_p.G124E|RCAN2_ENST00000405162.1_Missense_Mutation_p.G124E|RCAN2_ENST00000306764.7_Missense_Mutation_p.G124E	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	78					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TAATTTTTTCCCTCTGAATTG	0.348																																						ENST00000371374.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(370-372)gGg>gAg		regulator of calcineurin 2							81.0	75.0	77.0					6																	46216488		1820	4081	5901	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46216488C>T	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.233G>A	6.37:g.46216488C>T	ENSP00000329454:p.Gly78Glu					RCAN2_ENST00000306764.7_Missense_Mutation_p.G124E|RCAN2_ENST00000405162.1_Missense_Mutation_p.G124E|RCAN2_ENST00000330430.6_Missense_Mutation_p.G78E	p.G124E	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN			3	562	-			78					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.371G>A	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671782	0.88348	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.82	5.82	0.92795	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75088	-0.3441	9	0.87932	D	0	-6.0651	19.0872	0.93209	0.0:1.0:0.0:0.0	.	124;78	Q14206-2;Q14206	.;RCAN2_HUMAN	E	78;124;124;124	.	ENSP00000305223:G124E	G	-	2	0	RCAN2	46324447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.752000	0.94435	0.655000	0.94253	GGG		0.348	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			3	23	0	0	0	1	0	3	23				
IRF1	3659	broad.mit.edu	37	5	131822063	131822063	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:131822063G>A	ENST00000245414.4	-	7	805	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	IRF1_ENST00000405885.2_Silent_p.L183L|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	183					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CATGGCGACAGTGCTGGGGAA	0.572																																						ENST00000245414.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(547-549)Ctg>Ttg		interferon regulatory factor 1							67.0	65.0	66.0					5																	131822063		2203	4300	6503	SO:0001819	synonymous_variant	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822063G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.547C>T	5.37:g.131822063G>A						IRF1_ENST00000405885.2_Silent_p.L183L	p.L183L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	7	805	-		all_cancers(142;0.026)|Breast(839;0.198)	183					Q96GG7	Silent	SNP	ENST00000245414.4	37	c.547C>T	CCDS4155.1																																																																																				0.572	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		18	53	0	0	0	1	0	18	53				
USP6NL	9712	broad.mit.edu	37	10	11505307	11505307	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:11505307C>T	ENST00000609104.1	-	15	2014	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	USP6NL_ENST00000277575.5_Silent_p.E557E|USP6NL_ENST00000379237.2_Silent_p.E563E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	540					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTTCCCGTCCTCAGCATCCA	0.662																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1618-1620)gaG>gaA		USP6 N-terminal like							72.0	77.0	75.0					10																	11505307		2112	4216	6328	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505307C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1620G>A	10.37:g.11505307C>T						USP6NL_ENST00000277575.5_Silent_p.E557E	p.E540E	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	2014	-			540					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1620G>A	CCDS53492.1																																																																																				0.662	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		37	89	0	0	0	1	0	37	89				
NARFL	64428	broad.mit.edu	37	16	780842	780842	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:780842C>T	ENST00000251588.2	-	10	1209		c.e10+1		NARFL_ENST00000562862.1_Splice_Site|NARFL_ENST00000540986.1_Splice_Site|NARFL_ENST00000568545.1_Splice_Site	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCAGGAGCTACCTGAGGGGCA	0.642																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.e9+1		nuclear prelamin A recognition factor-like							74.0	66.0	68.0					16																	780842		2197	4300	6497	SO:0001630	splice_region_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780842C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1192+1G>A	16.37:g.780842C>T						NARFL_ENST00000562862.1_Splice_Site|NARFL_ENST00000568545.1_Splice_Site|NARFL_ENST00000251588.2_Splice_Site				Q9H6Q4	NARFL_HUMAN			9	2322	-		Hepatocellular(780;0.0218)						A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Splice_Site	SNP	ENST00000251588.2	37		CCDS10425.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277933	0.40294	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1241	0.86710	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NARFL	720843	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	7.366000	0.79548	2.281000	0.76405	0.430000	0.28490	.		0.642	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493	Intron	29	42	0	0	0	1	0	29	42				
CRACR2A	84766	broad.mit.edu	37	12	3757680	3757680	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3757680C>T	ENST00000252322.1	-	11	1614	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		382					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGTGCTCTCAGCACAGGCC	0.597																																						ENST00000252322.1																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1144-1146)ctG>ctA		EF-hand calcium binding domain 4B							67.0	60.0	62.0					12																	3757680		2203	4300	6503	SO:0001819	synonymous_variant	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3757680C>T																												ENST00000252322.1:c.1146G>A	12.37:g.3757680C>T						EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron	p.L382L	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		11	1614	-			382					B4E1X0|B9EK63	Silent	SNP	ENST00000252322.1	37	c.1146G>A	CCDS8522.1																																																																																				0.597	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			16	41	0	0	0	1	0	16	41				
TTN	7273	broad.mit.edu	37	2	179414056	179414056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179414056C>T	ENST00000591111.1	-	289	87598	c.87374G>A	c.(87373-87375)tGg>tAg	p.W29125*	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21893*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W28198*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.W30766*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21826*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21701*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29125	Fibronectin type-III 112. {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)			CACTTTTACCCATCTTGTGCT	0.418																																						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.(92296-92298)tGg>tAg		titin							163.0	156.0	158.0					2																	179414056		1946	4142	6088	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414056C>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.87374G>A	2.37:g.179414056C>T	ENSP00000465570:p.Trp29125*					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W28198*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W29125*|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21826*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21893*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21701*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.W30766*	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)		339	92521	-			29125			Fibronectin type-III 124.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.92297G>A		.	.	.	.	.	.	.	.	.	.	C	67	99.619974	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	28198;21701;21893;21826;21698	.	ENSP00000340554:W21893X	W	-	2	0	TTN	179122302	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.982000	0.70532	2.873000	0.98535	0.563000	0.77884	TGG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	56	0	0	0	1	0	19	56				
PCDHB16	57717	broad.mit.edu	37	5	140564270	140564270	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140564270G>A	ENST00000361016.2	+	1	3291	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	712					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGGTGCGGCTGTGCAGGA	0.677																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(2134-2136)cgG>cgA									67.0	77.0	74.0					5																	140564270		2196	4287	6483	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564270G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2136G>A	5.37:g.140564270G>A							p.R712R	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3291	+			712					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2136G>A	CCDS4251.1																																																																																				0.677	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		85	123	0	0	0	1	0	85	123				
IFIT5	24138	broad.mit.edu	37	10	91178121	91178121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91178121C>T	ENST00000371795.4	+	2	1378	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.H341Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	389					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCAGGAATTTCACCGTAAATC	0.428																																						ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1165-1167)Cac>Tac		interferon-induced protein with tetratricopeptide repeats 5							73.0	67.0	69.0					10																	91178121		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178121C>T	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1165C>T	10.37:g.91178121C>T	ENSP00000360860:p.His389Tyr					IFIT5_ENST00000416601.1_Missense_Mutation_p.H341Y	p.H389Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1378	+			389					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1165C>T	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250652	0.39797	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.59083	0.29;0.29	6.17	4.32	0.51571	.	0.512637	0.23893	N	0.043539	T	0.46678	0.1405	L	0.43152	1.355	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.16722	0.011;0.016	T	0.41662	-0.9496	10	0.49607	T	0.09	-7.757	6.9571	0.24578	0.2294:0.6361:0.0:0.1345	.	389;341	Q13325;B4DDV1	IFIT5_HUMAN;.	Y	389;341	ENSP00000360860:H389Y;ENSP00000414042:H341Y	ENSP00000360860:H389Y	H	+	1	0	IFIT5	91168101	0.706000	0.27856	0.575000	0.28536	0.994000	0.84299	0.319000	0.19522	0.921000	0.36994	0.655000	0.94253	CAC		0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		12	27	0	0	0	1	0	12	27				
SEMA3D	223117	broad.mit.edu	37	7	84666252	84666252	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:84666252G>A	ENST00000284136.6	-	10	1187	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	382	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCACCCAACGATGGTCTGCA	0.398																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1144-1146)Cgt>Tgt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							138.0	121.0	127.0					7																	84666252		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84666252G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1144C>T	7.37:g.84666252G>A	ENSP00000284136:p.Arg382Cys					SEMA3D_ENST00000484038.1_5'UTR	p.R382C	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			10	1187	-			382			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1144C>T	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944428	0.53079	.	.	ENSG00000153993	ENST00000284136	T	0.11385	2.78	5.89	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.049824	0.85682	N	0.000000	T	0.14960	0.0361	M	0.73598	2.24	0.80722	D	1	B	0.21452	0.056	B	0.10450	0.005	T	0.01982	-1.1235	10	0.72032	D	0.01	.	9.9168	0.41439	0.0692:0.0:0.7929:0.1379	.	382	O95025	SEM3D_HUMAN	C	382	ENSP00000284136:R382C	ENSP00000284136:R382C	R	-	1	0	SEMA3D	84504188	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	4.387000	0.59626	1.503000	0.48686	0.585000	0.79938	CGT		0.398	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		35	60	0	0	0	1	0	35	60				
ZNF266	10781	broad.mit.edu	37	19	9525075	9525075	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9525075T>A	ENST00000592904.1	-	5	2602	c.526A>T	c.(526-528)Aga>Tga	p.R176*	ZNF266_ENST00000588933.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.R176*|ZNF266_ENST00000592292.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.R176*			Q14584	ZN266_HUMAN	zinc finger protein 266	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTGTGAGTTCTTAAATGTCCC	0.438																																						ENST00000592904.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						c.(526-528)Aga>Tga		zinc finger protein 266							87.0	81.0	83.0					19																	9525075		2203	4300	6503	SO:0001587	stop_gained	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525075T>A	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.526A>T	19.37:g.9525075T>A	ENSP00000466714:p.Arg176*					ZNF266_ENST00000592292.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588933.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.R176*	p.R176*			Q14584	ZN266_HUMAN			5	2602	-			176					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Nonsense_Mutation	SNP	ENST00000592904.1	37	c.526A>T	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	T	45	11.286556	0.99542	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	.	.	.	2.68	-0.709	0.11237	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7982	0.23736	0.0:0.36:0.0:0.64	.	.	.	.	X	176	.	ENSP00000355047:R176X	R	-	1	2	ZNF266	9386075	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.007000	0.13174	-0.255000	0.09486	-0.388000	0.06559	AGA		0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			35	11	0	0	0	1	0	35	11				
ESR2	2100	broad.mit.edu	37	14	64727453	64727453	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:64727453C>T	ENST00000341099.4	-	5	1083	c.666G>A	c.(664-666)gaG>gaA	p.E222E	ESR2_ENST00000267525.6_Silent_p.E222E|ESR2_ENST00000554572.1_Silent_p.E222E|ESR2_ENST00000555278.1_Silent_p.E222E|ESR2_ENST00000557772.1_Silent_p.E222E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Silent_p.E222E|ESR2_ENST00000553796.1_Silent_p.E222E|ESR2_ENST00000353772.3_Silent_p.E222E|ESR2_ENST00000358599.5_Silent_p.E222E|ESR2_ENST00000357782.2_Silent_p.E222E	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	222	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACCCACATCTCTCTCTCCGGG	0.572																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(664-666)gaG>gaA		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						29.0	30.0	29.0					14																	64727453		2199	4289	6488	SO:0001819	synonymous_variant	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727453C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.666G>A	14.37:g.64727453C>T						ESR2_ENST00000341099.4_Silent_p.E222E|ESR2_ENST00000353772.3_Silent_p.E222E|ESR2_ENST00000553796.1_Silent_p.E222E|ESR2_ENST00000555278.1_Silent_p.E222E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.E222E|ESR2_ENST00000357782.2_Silent_p.E222E|ESR2_ENST00000358599.5_Silent_p.E222E|ESR2_ENST00000542956.1_Silent_p.E222E|ESR2_ENST00000267525.6_Silent_p.E222E	p.E222E	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	4	665	-			222			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.666G>A	CCDS9762.1																																																																																				0.572	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			21	30	0	0	0	1	0	21	30				
TAOK2	9344	broad.mit.edu	37	16	29999288	29999288	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29999288C>T	ENST00000308893.4	+	16	4738	c.3695C>T	c.(3694-3696)cCc>cTc	p.P1232L	TAOK2_ENST00000416441.2_Missense_Mutation_p.P1059L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1119L|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1232					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGGGCCCTGCCCCCCTGGAGG	0.657																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3694-3696)cCc>cTc		TAO kinase 2							8.0	9.0	9.0					16																	29999288		1995	3993	5988	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999288C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3695C>T	16.37:g.29999288C>T	ENSP00000310094:p.Pro1232Leu					TAOK2_ENST00000416441.2_Missense_Mutation_p.P1059L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1119L|TAOK2_ENST00000279394.3_Intron	p.P1232L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4738	+			1232					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3695C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098774	0.37048	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.72282	-0.56;-0.64	4.18	4.18	0.49190	.	0.369735	0.25777	N	0.028373	T	0.69378	0.3104	N	0.14661	0.345	0.46542	D	0.999094	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.981;0.998;0.981	T	0.67662	-0.5613	9	.	.	.	.	11.8673	0.52501	0.0:1.0:0.0:0.0	.	1423;1059;1232	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	L	1232;1119	ENSP00000310094:P1232L;ENSP00000440336:P1119L	.	P	+	2	0	TAOK2	29906789	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	3.043000	0.49823	2.173000	0.68751	0.563000	0.77884	CCC		0.657	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	9	0	0	0	1	0	8	9				
ZC3HC1	51530	broad.mit.edu	37	7	129691188	129691188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691188C>T	ENST00000358303.4	-	1	103	c.19G>A	c.(19-21)Gga>Aga	p.G7R	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7R|ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACGCTTGTCCCTCACAGGGC	0.577																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(19-21)Gga>Aga		zinc finger, C3HC-type containing 1							48.0	50.0	49.0					7																	129691188		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129691188C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.19G>A	7.37:g.129691188C>T	ENSP00000351052:p.Gly7Arg					ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7R|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7R	p.G7R	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			1	103	-	Melanoma(18;0.0435)		7					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.19G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971678	0.53614	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000481503;ENST00000480193	T;T;T	0.48201	1.42;0.85;0.82	5.2	5.2	0.72013	.	0.481828	0.20522	N	0.090690	T	0.35480	0.0933	N	0.19112	0.55	0.80722	D	1	B	0.29432	0.244	B	0.27887	0.084	T	0.22068	-1.0227	10	0.52906	T	0.07	-3.9404	15.5728	0.76354	0.0:1.0:0.0:0.0	.	7	Q86WB0	NIPA_HUMAN	R	7	ENSP00000351052:G7R;ENSP00000353933:G7R;ENSP00000418533:G7R	ENSP00000351052:G7R	G	-	1	0	ZC3HC1	129478424	0.006000	0.16342	0.970000	0.41538	0.403000	0.30841	1.610000	0.36869	2.715000	0.92844	0.561000	0.74099	GGA		0.577	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		24	61	0	0	0	1	0	24	61				
CLIP3	25999	broad.mit.edu	37	19	36509916	36509916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36509916G>A	ENST00000360535.4	-	9	1294	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	CLIP3_ENST00000593074.1_Missense_Mutation_p.S356F|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	356	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTGGACACGGAGGCAAAGAG	0.627																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1066-1068)tCc>tTc		CAP-GLY domain containing linker protein 3							62.0	68.0	66.0					19																	36509916		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36509916G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1067C>T	19.37:g.36509916G>A	ENSP00000353732:p.Ser356Phe					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S356F	p.S356F	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		9	1294	-	Esophageal squamous(110;0.162)		356			CAP-Gly 1.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1067C>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591899	0.66219	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.74842	-0.88	4.87	4.87	0.63330	Cytoskeleton-associated protein, Gly-rich domain (4);	0.057983	0.64402	D	0.000001	T	0.72510	0.3469	L	0.46157	1.445	0.48571	D	0.999674	P	0.50710	0.938	P	0.45856	0.495	T	0.77059	-0.2728	10	0.72032	D	0.01	-20.4631	15.5566	0.76200	0.0:0.0:1.0:0.0	.	356	Q96DZ5	CLIP3_HUMAN	F	356;238;332	ENSP00000353732:S356F	ENSP00000353732:S356F	S	-	2	0	CLIP3	41201756	1.000000	0.71417	0.998000	0.56505	0.344000	0.29017	8.450000	0.90340	2.558000	0.86282	0.650000	0.86243	TCC		0.627	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		33	54	0	0	0	1	0	33	54				
TNXB	7148	broad.mit.edu	37	6	32017095	32017095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:32017095G>A	ENST00000375244.3	-	28	9910	c.9709C>T	c.(9709-9711)Ctc>Ttc	p.L3237F	TNXB_ENST00000375247.2_Missense_Mutation_p.L3235F			P22105	TENX_HUMAN	tenascin XB	3282	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCTCGTGGAGGCCGTACAGA	0.697																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(9709-9711)Ctc>Ttc		tenascin XB							40.0	43.0	42.0					6																	32017095		1273	2543	3816	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017095G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9709C>T	6.37:g.32017095G>A	ENSP00000364393:p.Leu3237Phe					TNXB_ENST00000375247.2_Missense_Mutation_p.L3235F	p.L3237F			P22105	TENX_HUMAN			28	9910	-			3282			Fibronectin type-III 24.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9709C>T		.	.	.	.	.	.	.	.	.	.	G	9.107	1.005596	0.19199	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58506	0.33;0.33	4.28	0.618	0.17624	.	0.359515	0.20378	N	0.093516	T	0.37705	0.1013	L	0.28776	0.89	0.09310	N	1	D	0.69078	0.997	D	0.75484	0.986	T	0.17471	-1.0368	10	0.42905	T	0.14	.	0.3703	0.00378	0.284:0.1957:0.3211:0.1993	.	3235	P22105-3	.	F	3237;3235	ENSP00000364393:L3237F;ENSP00000364396:L3235F	ENSP00000364393:L3237F	L	-	1	0	TNXB	32125073	0.000000	0.05858	0.048000	0.18961	0.092000	0.18411	-1.108000	0.03313	0.221000	0.20879	0.313000	0.20887	CTC		0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		18	10	0	0	0	1	0	18	10				
TOPBP1	11073	broad.mit.edu	37	3	133347419	133347419	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133347419C>T	ENST00000260810.5	-	15	2810	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	893					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTGACTGGGCCTCTTTCAGTT	0.388								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2677-2679)gaG>gaA	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							62.0	58.0	59.0					3																	133347419		1903	4126	6029	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133347419C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2679G>A	3.37:g.133347419C>T							p.E893E	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			15	2810	-			893					B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.2679G>A	CCDS46919.1																																																																																				0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		5	8	0	0	0	1	0	5	8				
ZNF648	127665	broad.mit.edu	37	1	182026190	182026190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:182026190G>C	ENST00000339948.3	-	2	1163	c.956C>G	c.(955-957)tCc>tGc	p.S319C		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTGGTCGGAGGACCAGGTGTA	0.657																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(955-957)tCc>tGc		zinc finger protein 648							87.0	82.0	84.0					1																	182026190		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026190G>C	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.956C>G	1.37:g.182026190G>C	ENSP00000344129:p.Ser319Cys						p.S319C	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	1163	-			319					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.956C>G	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636428	0.47049	.	.	ENSG00000179930	ENST00000339948	T	0.10763	2.84	2.81	-0.437	0.12272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	M	0.77313	2.365	0.33367	D	0.573044	P	0.34934	0.476	B	0.26094	0.066	T	0.12451	-1.0547	9	0.39692	T	0.17	.	5.9697	0.19344	0.1189:0.3703:0.5108:0.0	.	319	Q5T619	ZN648_HUMAN	C	319	ENSP00000344129:S319C	ENSP00000344129:S319C	S	-	2	0	ZNF648	180292813	0.060000	0.20803	0.585000	0.28666	0.997000	0.91878	0.368000	0.20399	-0.079000	0.12707	0.561000	0.74099	TCC		0.657	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		5	25	0	0	0	1	0	5	25				
CIITA	4261	broad.mit.edu	37	16	11001378	11001378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11001378G>A	ENST00000324288.8	+	11	2162	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	677	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TACCCTACAGGAGGACCAGTT	0.687			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2029-2031)Gag>Aag		class II, major histocompatibility complex, transactivator							40.0	41.0	41.0					16																	11001378		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001378G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2029G>A	16.37:g.11001378G>A	ENSP00000316328:p.Glu677Lys					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.E677K	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	2162	+			677			NACHT.		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2029G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	g	6.675	0.493197	0.12702	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.73897	-0.79	5.3	2.29	0.28610	NACHT nucleoside triphosphatase (1);	0.779646	0.11543	N	0.553600	T	0.69797	0.3151	L	0.54323	1.7	0.09310	N	1	P;B;P;P	0.47762	0.745;0.014;0.835;0.9	B;B;P;B	0.45794	0.218;0.011;0.493;0.416	T	0.59413	-0.7459	10	0.59425	D	0.04	.	4.8571	0.13564	0.2558:0.157:0.5872:0.0	.	677;677;629;677	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	K	677;629	ENSP00000316328:E677K	ENSP00000316328:E677K	E	+	1	0	CIITA	10908879	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.613000	0.24299	0.247000	0.21414	-0.121000	0.15023	GAG		0.687	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		21	35	0	0	0	1	0	21	35				
ITIH4	3700	broad.mit.edu	37	3	52858009	52858009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:52858009G>T	ENST00000266041.4	-	10	1279	c.1183C>A	c.(1183-1185)Ccc>Acc	p.P395T	ITIH4_ENST00000485816.1_Missense_Mutation_p.P395T|ITIH4_ENST00000406595.1_Missense_Mutation_p.P395T|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.P395T|ITIH4_ENST00000434759.3_Missense_Mutation_p.P307T|ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	395	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGCTCCTGGGGTTAGTCTCC	0.542																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1183-1185)Ccc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 4							44.0	44.0	44.0					3																	52858009		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858009G>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1183C>A	3.37:g.52858009G>T	ENSP00000266041:p.Pro395Thr					ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.P395T|ITIH4_ENST00000434759.3_Missense_Mutation_p.P307T|ITIH4_ENST00000346281.5_Missense_Mutation_p.P395T|ITIH4_ENST00000485816.1_Missense_Mutation_p.P395T	p.P395T	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1279	-			395			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1183C>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727238|2.727238	0.48833|0.48833	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|D;D;D;D;D	.|0.83837	.|-1.77;-1.77;-1.77;-1.77;-1.77	4.46|4.46	4.46|4.46	0.54185|0.54185	.|von Willebrand factor, type A (3);	0.331670|0.331670	0.25291|0.25291	N|N	0.031723|0.031723	D|D	0.83220|0.83220	0.5207|0.5207	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|P;P;P;B	.|0.50369	.|0.934;0.934;0.886;0.068	.|P;P;P;B	.|0.53146	.|0.609;0.719;0.719;0.048	T|T	0.79460|0.79460	-0.1794|-0.1794	6|10	.|0.16896	.|T	.|0.51	-8.5027|-8.5027	13.0848|13.0848	0.59133|0.59133	0.0:0.2163:0.7837:0.0|0.0:0.2163:0.7837:0.0	.|.	.|395;395;395;395	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	H|T	252|395;395;395;395;383;307	.|ENSP00000266041:P395T;ENSP00000340520:P395T;ENSP00000417824:P395T;ENSP00000384425:P395T;ENSP00000440036:P307T	.|ENSP00000266041:P395T	P|P	-|-	2|1	0|0	ITIH4|ITIH4	52833049|52833049	0.538000|0.538000	0.26394|0.26394	0.323000|0.323000	0.25347|0.25347	0.126000|0.126000	0.20510|0.20510	4.434000|4.434000	0.59935|0.59935	2.034000|2.034000	0.60081|0.60081	0.407000|0.407000	0.27541|0.27541	CCC|CCC		0.542	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		18	26	1	0	3.51602e-12	1	3.56078e-12	18	26				
NBAS	51594	broad.mit.edu	37	2	15519940	15519940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15519940G>A	ENST00000281513.5	-	30	3401	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	NBAS_ENST00000441750.1_Missense_Mutation_p.L1006F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1126					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCACAGAAGGCTTTCTGTA	0.423																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(3376-3378)Ctt>Ttt		neuroblastoma amplified sequence							72.0	76.0	75.0					2																	15519940		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15519940G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3376C>T	2.37:g.15519940G>A	ENSP00000281513:p.Leu1126Phe					NBAS_ENST00000441750.1_Missense_Mutation_p.L1006F	p.L1126F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			30	3401	-			1126					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.3376C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259026	0.80246	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000441755	T;T;T	0.38077	1.16;1.16;1.16	5.74	5.74	0.90152	Secretory pathway Sec39 (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60934	-0.7164	10	0.87932	D	0	.	13.1723	0.59606	0.0727:0.0:0.9273:0.0	.	1006;1126	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	F	1006;1126;173	ENSP00000413201:L1006F;ENSP00000281513:L1126F;ENSP00000396501:L173F	ENSP00000281513:L1126F	L	-	1	0	NBAS	15437391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.571000	0.67404	2.717000	0.92951	0.563000	0.77884	CTT		0.423	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		25	51	0	0	0	1	0	25	51				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	284802							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	137	0	0	0	1	0	7	137				
LRP1	4035	broad.mit.edu	37	12	57606241	57606241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57606241G>A	ENST00000243077.3	+	89	14004	c.13538G>A	c.(13537-13539)gGg>gAg	p.G4513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4513	Interaction with MAFB. {ECO:0000250}.				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)	CTCTACATGGGGGGCCATGGC	0.647																																						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.(13537-13539)gGg>gAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						77.0	69.0	72.0					12																	57606241		2203	4300	6503	SO:0001583	missense	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.chr12:57606241G>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.13538G>A	12.37:g.57606241G>A	ENSP00000243077:p.Gly4513Glu						p.G4513E	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	89	14004	+			4513			Interaction with MAFB (By similarity).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13538G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714671	0.68730	.	.	ENSG00000123384	ENST00000243077	T	0.52057	0.68	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000055	T	0.65460	0.2693	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68179	-0.5477	10	0.62326	D	0.03	.	16.4793	0.84153	0.0:0.0:1.0:0.0	.	4513	Q07954	LRP1_HUMAN	E	4513	ENSP00000243077:G4513E	ENSP00000243077:G4513E	G	+	2	0	LRP1	55892508	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	6.218000	0.72224	2.403000	0.81681	0.491000	0.48974	GGG		0.647	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		18	41	0	0	0	1	0	18	41				
TCL6	27004	broad.mit.edu	37	14	96134469	96134469	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:96134469G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GCAGATCACGGGAATTACAAG	0.413			T	TRA@	T-ALL																																	ENST00000467865.1				Dom	yes		14	14q32.1	27004	T	T-cell leukemia/lymphoma 6			L	TRA@		T-ALL		0				large_intestine(1)|lung(7)	8															115.0	112.0	113.0					14																	96134469		2203	4300	6503			27004							g.chr14:96134469G>A	AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96134469G>A						RP11-1070N10.6_ENST00000461160.1_RNA							Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)	0	1821	+		all_cancers(154;0.103)							RNA	SNP	ENST00000467865.1	37																																																																																						0.413	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468		28	52	0	0	0	1	0	28	52				
CLSTN3	9746	broad.mit.edu	37	12	7286260	7286260	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:7286260C>T	ENST00000266546.6	+	3	729	c.279C>T	c.(277-279)gcC>gcT	p.A93A	CLSTN3_ENST00000537408.1_Silent_p.A105A|RP11-273B20.1_ENST00000538062.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	93	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGATCCGGGCCAAGGAGCCTG	0.632																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(313-315)gcC>gcT		calsyntenin 3							65.0	61.0	62.0					12																	7286260		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7286260C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.279C>T	12.37:g.7286260C>T						CLSTN3_ENST00000266546.6_Silent_p.A93A	p.A105A			Q9BQT9	CSTN3_HUMAN			2	853	+			93			Cadherin 1.		D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.315C>T	CCDS8575.1																																																																																				0.632	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		25	44	0	0	0	1	0	25	44				
ISLR	3671	broad.mit.edu	37	15	74467469	74467469	+	Silent	SNP	C	C	T	rs370875809		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74467469C>T	ENST00000249842.3	+	2	627	c.270C>T	c.(268-270)gcC>gcT	p.A90A	ISLR_ENST00000395118.1_Silent_p.A90A|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	90					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCACGGTGGCCGCCGGAGCCC	0.642																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(268-270)gcC>gcT		immunoglobulin superfamily containing leucine-rich repeat		C	,	1,4395	2.1+/-5.4	0,1,2197	40.0	42.0	42.0		270,270	-2.7	0.0	15		42	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ISLR	NM_005545.3,NM_201526.1	,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,	90/429,90/429	74467469	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467469C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.270C>T	15.37:g.74467469C>T						RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.A90A	p.A90A	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	627	+			90						Silent	SNP	ENST00000249842.3	37	c.270C>T	CCDS10260.1																																																																																				0.642	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		20	35	0	0	0	1	0	20	35				
FERD3L	222894	broad.mit.edu	37	7	19184769	19184769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:19184769C>T	ENST00000275461.3	-	1	275	c.217G>A	c.(217-219)Gac>Aac	p.D73N	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	73					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tcttctccgtccccctggtcc	0.647																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(217-219)Gac>Aac		Fer3-like bHLH transcription factor							65.0	45.0	52.0					7																	19184769		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184769C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.217G>A	7.37:g.19184769C>T	ENSP00000275461:p.Asp73Asn					AC003986.5_ENST00000452700.1_RNA	p.D73N	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	275	-			73					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.217G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	8.345	0.829645	0.16749	.	.	ENSG00000146618	ENST00000275461	D	0.96651	-4.08	5.29	5.29	0.74685	.	0.521231	0.17355	N	0.177264	D	0.90618	0.7058	N	0.14661	0.345	0.09310	N	1	B	0.31318	0.319	B	0.27170	0.077	T	0.80917	-0.1168	10	0.18710	T	0.47	.	14.4244	0.67204	0.0:1.0:0.0:0.0	.	73	Q96RJ6	FER3L_HUMAN	N	73	ENSP00000275461:D73N	ENSP00000275461:D73N	D	-	1	0	FERD3L	19151294	0.904000	0.30761	0.009000	0.14445	0.211000	0.24417	1.992000	0.40737	2.481000	0.83766	0.650000	0.86243	GAC		0.647	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			9	21	0	0	0	1	0	9	21				
TTN	7273	broad.mit.edu	37	2	179584295	179584295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179584295G>A	ENST00000591111.1	-	80	23197	c.22973C>T	c.(22972-22974)tCc>tTc	p.S7658F	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6731F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S7975F|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 58.				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)			AACATGGACGGATACAGTGCA	0.388																																						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.(23923-23925)tCc>tTc		titin							186.0	180.0	182.0					2																	179584295		1871	4090	5961	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584295G>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.22973C>T	2.37:g.179584295G>A	ENSP00000465570:p.Ser7658Phe					TTN_ENST00000342992.6_Missense_Mutation_p.S6731F|TTN_ENST00000591111.1_Missense_Mutation_p.S7658F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.S7975F	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)		82	24148	-			7658			Ig-like 62.		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.23924C>T		.	.	.	.	.	.	.	.	.	.	G	10.82	1.456989	0.26161	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.80675	0.4668	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	P	0.62014	0.897	T	0.80719	-0.1257	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7658	Q8WZ42	TITIN_HUMAN	F	6731	ENSP00000343764:S6731F	ENSP00000343764:S6731F	S	-	2	0	TTN	179292540	0.999000	0.42202	0.730000	0.30809	0.971000	0.66376	3.760000	0.55235	2.894000	0.99253	0.655000	0.94253	TCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	78	0	0	0	1	0	62	78				
SERPINE1	5054	broad.mit.edu	37	7	100775223	100775223	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775223C>T	ENST00000223095.4	+	4	730	c.573C>T	c.(571-573)gcC>gcT	p.A191A	SERPINE1_ENST00000445463.2_Silent_p.A176A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTGAATGCCCTCTACTTCA	0.557																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(571-573)gcC>gcT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						125.0	123.0	124.0					7																	100775223		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775223C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.573C>T	7.37:g.100775223C>T						SERPINE1_ENST00000445463.2_Silent_p.A176A	p.A191A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	730	+	Lung NSC(181;0.136)|all_lung(186;0.182)		191					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.573C>T	CCDS5711.1																																																																																				0.557	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		74	162	0	0	0	1	0	74	162				
CABP5	56344	broad.mit.edu	37	19	48543904	48543904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:48543904C>T	ENST00000293255.2	-	3	326	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	66	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGTTCCATCTCCGTGGGCATG	0.542																																						ENST00000293255.2																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(196-198)Gag>Aag		calcium binding protein 5							118.0	91.0	100.0					19																	48543904		2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48543904C>T	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.196G>A	19.37:g.48543904C>T	ENSP00000293255:p.Glu66Lys						p.E66K	NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	3	326	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	66			EF-hand 2.		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.196G>A	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267553	0.95399	.	.	ENSG00000105507	ENST00000293255	T	0.10192	2.9	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03221	-1.1059	10	0.72032	D	0.01	-25.2224	15.2873	0.73838	0.0:1.0:0.0:0.0	.	66	Q9NP86	CABP5_HUMAN	K	66	ENSP00000293255:E66K	ENSP00000293255:E66K	E	-	1	0	CABP5	53235716	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.977000	0.76141	2.403000	0.81681	0.549000	0.68633	GAG		0.542	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855		29	38	0	0	0	1	0	29	38				
RAB3IL1	5866	broad.mit.edu	37	11	61672226	61672226	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61672226C>T	ENST00000394836.2	-	6	943	c.786G>A	c.(784-786)gaG>gaA	p.E262E	RAB3IL1_ENST00000301773.5_Splice_Site_p.E236E	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	262					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CATGCCTCACCTCCTGCATTG	0.682																																						ENST00000394836.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						c.e6+1		RAB3A interacting protein (rabin3)-like 1							21.0	21.0	21.0					11																	61672226		2199	4297	6496	SO:0001630	splice_region_variant	5866						protein binding	g.chr11:61672226C>T	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.786+1G>A	11.37:g.61672226C>T						RAB3IL1_ENST00000301773.5_Splice_Site_p.E236_splice	p.E262_splice	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN			6	943	-			262					Q86V32|Q9P1Q8	Splice_Site	SNP	ENST00000394836.2	37	c.786_splice	CCDS8014.1																																																																																				0.682	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401	Silent	5	4	0	0	0	1	0	5	4				
GPR98	84059	broad.mit.edu	37	5	90024571	90024571	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:90024571G>A	ENST00000405460.2	+	49	10343	c.10247G>A	c.(10246-10248)gGa>gAa	p.G3416E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3416					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAACAAGGGAGGCTCTGTG	0.488																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10246-10248)gGa>gAa		G protein-coupled receptor 98							142.0	138.0	139.0					5																	90024571		1988	4157	6145	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90024571G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10247G>A	5.37:g.90024571G>A	ENSP00000384582:p.Gly3416Glu						p.G3416E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	49	10343	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3416					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10247G>A	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.922|8.922	0.961395|0.961395	0.18583|0.18583	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|D	.|0.82526	.|-1.62	5.47|5.47	0.185|0.185	0.15096|0.15096	.|.	.|0.268103	.|0.41823	.|D	.|0.000810	T|T	0.76471|0.76471	0.3992|0.3992	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28998	.|0.23;0.19	.|B;B	.|0.28784	.|0.094;0.048	T|T	0.67669|0.67669	-0.5611|-0.5611	5|10	.|0.49607	.|T	.|0.09	.|.	7.5309|7.5309	0.27683|0.27683	0.062:0.333:0.4902:0.1148|0.062:0.333:0.4902:0.1148	.|.	.|3416;3416	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	K|E	982|3416	.|ENSP00000384582:G3416E	.|ENSP00000296619:G3416E	E|G	+|+	1|2	0|0	GPR98|GPR98	90060327|90060327	1.000000|1.000000	0.71417|0.71417	0.730000|0.730000	0.30809|0.30809	0.048000|0.048000	0.14542|0.14542	1.373000|1.373000	0.34272|0.34272	0.008000|0.008000	0.14787|0.14787	-1.147000|-1.147000	0.01851|0.01851	GAG|GGA		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		45	74	0	0	0	1	0	45	74				
RAB9BP1	9366	broad.mit.edu	37	5	104435316	104435316	+	lincRNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:104435316G>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TTTAAGTAAAGATTTGGAAGT	0.388																																						ENST00000522464.1																			0																																																			9366							g.chr5:104435316G>A																													5.37:g.104435316G>A						RP11-6N13.1_ENST00000503650.1_lincRNA								0	68	-									RNA	SNP	ENST00000522464.1	37																																																																																						0.388	CTD-2374C24.1-002	PUTATIVE	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000374820.1			13	57	0	0	0	1	0	13	57				
KRT74	121391	broad.mit.edu	37	12	52961457	52961457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52961457G>A	ENST00000305620.2	-	8	1423	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	KRT74_ENST00000549343.1_Missense_Mutation_p.S473F	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	459	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTCACAGAGGATGGATTCTC	0.458																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1417-1419)tCc>tTc		keratin 74							66.0	62.0	64.0					12																	52961457		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52961457G>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1376C>T	12.37:g.52961457G>A	ENSP00000307240:p.Ser459Phe					KRT74_ENST00000305620.2_Missense_Mutation_p.S459F	p.S473F			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	9	1456	-			459			Tail.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1418C>T	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612256	0.46631	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.83335	-1.71;-1.7	5.12	1.98	0.26296	.	0.315582	0.18304	N	0.145315	D	0.86619	0.5976	L	0.59436	1.845	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75505	-0.3294	10	0.87932	D	0	.	6.7335	0.23397	0.0857:0.0:0.6047:0.3095	.	459	Q7RTS7	K2C74_HUMAN	F	473;459	ENSP00000447447:S473F;ENSP00000307240:S459F	ENSP00000307240:S459F	S	-	2	0	KRT74	51247724	0.000000	0.05858	0.013000	0.15412	0.827000	0.46813	0.155000	0.16362	0.624000	0.30286	0.563000	0.77884	TCC		0.458	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		20	33	0	0	0	1	0	20	33				
NBAS	51594	broad.mit.edu	37	2	15607791	15607791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:15607791G>A	ENST00000281513.5	-	18	2040	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	NBAS_ENST00000441750.1_Missense_Mutation_p.S672F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	672					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATTTACTTGGAAAAGTTCAC	0.323																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2014-2016)tCc>tTc		neuroblastoma amplified sequence							97.0	89.0	92.0					2																	15607791		2201	4300	6501	SO:0001583	missense	51594							g.chr2:15607791G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2015C>T	2.37:g.15607791G>A	ENSP00000281513:p.Ser672Phe					NBAS_ENST00000441750.1_Missense_Mutation_p.S672F	p.S672F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			18	2040	-			672					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2015C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083825	0.55861	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11712	2.75;2.92	5.65	5.65	0.86999	.	0.293383	0.37906	N	0.001893	T	0.24509	0.0594	M	0.64997	1.995	0.26697	N	0.971248	P	0.51240	0.943	P	0.50791	0.65	T	0.01743	-1.1283	10	0.87932	D	0	.	19.7318	0.96183	0.0:0.0:1.0:0.0	.	672	A2RRP1	NBAS_HUMAN	F	672	ENSP00000413201:S672F;ENSP00000281513:S672F	ENSP00000281513:S672F	S	-	2	0	NBAS	15525242	1.000000	0.71417	0.995000	0.50966	0.915000	0.54546	4.935000	0.63498	2.661000	0.90470	0.650000	0.86243	TCC		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	16	0	0	0	1	0	6	16				
KIF1C	10749	broad.mit.edu	37	17	4923831	4923831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4923831C>T	ENST00000320785.5	+	20	2152	c.1795C>T	c.(1795-1797)Cac>Tac	p.H599Y	AC109333.10_ENST00000438266.1_RNA|KIF1C_ENST00000573815.1_3'UTR	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	599					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGCTTCAACCACCCGGAGCA	0.577																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(1795-1797)Cac>Tac		kinesin family member 1C							48.0	50.0	49.0					17																	4923831		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4923831C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1795C>T	17.37:g.4923831C>T	ENSP00000320821:p.His599Tyr					KIF1C_ENST00000573815.1_3'UTR	p.H599Y	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			20	2152	+			599					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.1795C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420099	0.96111	.	.	ENSG00000129250	ENST00000320785	T	0.73152	-0.72	5.68	5.68	0.88126	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	.	.	.	.	D	0.84524	0.5491	M	0.82056	2.57	0.58432	D	0.999995	D	0.57899	0.981	D	0.67900	0.954	D	0.86010	0.1500	9	0.72032	D	0.01	.	17.2982	0.87174	0.0:1.0:0.0:0.0	.	599	O43896	KIF1C_HUMAN	Y	599	ENSP00000320821:H599Y	ENSP00000320821:H599Y	H	+	1	0	KIF1C	4864555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.906000	0.63293	2.683000	0.91414	0.655000	0.94253	CAC		0.577	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			20	40	0	0	0	1	0	20	40				
CHID1	66005	broad.mit.edu	37	11	902274	902274	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:902274G>A	ENST00000449825.1	-	4	674	c.318C>T	c.(316-318)atC>atT	p.I106I	CHID1_ENST00000454838.2_Silent_p.I131I|CHID1_ENST00000429789.2_Silent_p.I106I|CHID1_ENST00000323578.8_Silent_p.I106I|CHID1_ENST00000528581.1_Silent_p.I131I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Silent_p.I131I|CHID1_ENST00000436108.2_Silent_p.I106I|CHID1_ENST00000323541.7_Silent_p.I136I	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	106					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGACGGGTGAGATCTGTGTGA	0.557																																					Pancreas(117;992 2327 5172 41921)	ENST00000449825.1																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13						c.(316-318)atC>atT		chitinase domain containing 1							190.0	145.0	160.0					11																	902274		2203	4299	6502	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:902274G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.318C>T	11.37:g.902274G>A						CHID1_ENST00000528581.1_Silent_p.I131I|CHID1_ENST00000436108.2_Silent_p.I106I|CHID1_ENST00000336845.5_Silent_p.I131I|CHID1_ENST00000429789.2_Silent_p.I106I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.I106I|CHID1_ENST00000454838.2_Silent_p.I131I|CHID1_ENST00000323541.7_Silent_p.I136I	p.I106I	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	4	674	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	106					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.318C>T	CCDS7722.1																																																																																				0.557	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		39	46	0	0	0	1	0	39	46				
TRIM68	55128	broad.mit.edu	37	11	4621896	4621896	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4621896G>A	ENST00000300747.5	-	7	1357	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTAGTGCCGGCCTGAGGAGA	0.537																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(1066-1068)ggC>ggT		tripartite motif containing 68							50.0	52.0	52.0					11																	4621896		2201	4298	6499	SO:0001819	synonymous_variant	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621896G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1068C>T	11.37:g.4621896G>A							p.G356G	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1357	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	356			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Silent	SNP	ENST00000300747.5	37	c.1068C>T	CCDS31356.1																																																																																				0.537	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		10	22	0	0	0	1	0	10	22				
SPNS2	124976	broad.mit.edu	37	17	4439592	4439592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:4439592C>T	ENST00000329078.3	+	11	1688	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	493					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACTAAGGACTCCCCGCTCTGG	0.637																																						ENST00000329078.3																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(1477-1479)tCc>tTc		spinster homolog 2 (Drosophila)							92.0	79.0	83.0					17																	4439592		1568	3582	5150	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4439592C>T	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1478C>T	17.37:g.4439592C>T	ENSP00000333292:p.Ser493Phe						p.S493F	NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN			11	1688	+			493					B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.1478C>T	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	C	32	5.109217	0.94292	.	.	ENSG00000183018	ENST00000329078	T	0.27890	1.64	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	M	0.83774	2.66	0.80722	D	1	D	0.54601	0.967	P	0.54238	0.746	T	0.61317	-0.7087	10	0.87932	D	0	.	16.951	0.86245	0.0:1.0:0.0:0.0	.	493	Q8IVW8	SPNS2_HUMAN	F	493	ENSP00000333292:S493F	ENSP00000333292:S493F	S	+	2	0	SPNS2	4386341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.140000	0.64807	2.584000	0.87258	0.563000	0.77884	TCC		0.637	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			20	49	0	0	0	1	0	20	49				
EMC2	9694	broad.mit.edu	37	8	109491300	109491300	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:109491300T>G	ENST00000220853.3	+	10	803	c.768T>G	c.(766-768)taT>taG	p.Y256*	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	256						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ACATGAAATATGCTAGTTGGG	0.318																																						ENST00000220853.3																			0											c.(766-768)taT>taG		ER membrane protein complex subunit 2							140.0	126.0	131.0					8																	109491300		2203	4300	6503	SO:0001587	stop_gained	9694							g.chr8:109491300T>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.768T>G	8.37:g.109491300T>G	ENSP00000220853:p.Tyr256*					EMC2_ENST00000520294.1_3'UTR	p.Y256*	NM_014673.3	NP_055488.1					10	803	+								Q8WUE1	Nonsense_Mutation	SNP	ENST00000220853.3	37	c.768T>G	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	T	36	5.617524	0.96649	.	.	ENSG00000104412	ENST00000220853	.	.	.	5.94	4.78	0.61160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.3563	12.1969	0.54303	0.0:0.0668:0.0:0.9332	.	.	.	.	X	256	.	ENSP00000220853:Y256X	Y	+	3	2	TTC35	109560476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.686000	0.37669	1.057000	0.40506	0.455000	0.32223	TAT		0.318	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		27	34	0	0	0	1	0	27	34				
C15orf39	56905	broad.mit.edu	37	15	75499396	75499396	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:75499396C>T	ENST00000360639.2	+	2	1327	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	C15orf39_ENST00000567617.1_Missense_Mutation_p.P336L|C15orf39_ENST00000394987.4_Missense_Mutation_p.P336L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	336						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTTACATTCCCCCACTGGGG	0.687																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1006-1008)cCc>cTc		chromosome 15 open reading frame 39							45.0	48.0	47.0					15																	75499396		2197	4294	6491	SO:0001583	missense	56905							g.chr15:75499396C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1007C>T	15.37:g.75499396C>T	ENSP00000353854:p.Pro336Leu					C15orf39_ENST00000394987.4_Missense_Mutation_p.P336L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P336L	p.P336L			Q6ZRI6	CO039_HUMAN			2	1327	+			336					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.1007C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427891	0.25726	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.65732	-0.17;-0.17	4.85	4.85	0.62838	.	0.236244	0.33092	N	0.005287	T	0.69682	0.3138	M	0.62723	1.935	0.49798	D	0.999823	D	0.53619	0.961	P	0.53689	0.732	T	0.73845	-0.3854	10	0.72032	D	0.01	-11.8372	13.4679	0.61266	0.0:1.0:0.0:0.0	.	336	Q6ZRI6	CO039_HUMAN	L	336	ENSP00000353854:P336L;ENSP00000378438:P336L	ENSP00000353854:P336L	P	+	2	0	C15orf39	73286449	0.000000	0.05858	0.974000	0.42286	0.012000	0.07955	0.635000	0.24629	2.247000	0.74100	0.462000	0.41574	CCC		0.687	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		24	61	0	0	0	1	0	24	61				
CD300E	342510	broad.mit.edu	37	17	72608871	72608871	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:72608871A>C	ENST00000328630.3	-	4	579	c.539T>G	c.(538-540)cTg>cGg	p.L180R	CD300E_ENST00000426295.2_Missense_Mutation_p.L221R|CD300E_ENST00000392619.1_Missense_Mutation_p.L207R			Q496F6	CLM2_HUMAN	CD300e molecule	180					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCAGCTTCAGAAGGACCAC	0.617																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(619-621)cTg>cGg		CD300e molecule							81.0	76.0	77.0					17																	72608871		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72608871A>C	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.539T>G	17.37:g.72608871A>C	ENSP00000329942:p.Leu180Arg					CD300E_ENST00000426295.2_Missense_Mutation_p.L221R|CD300E_ENST00000328630.3_Missense_Mutation_p.L180R	p.L207R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			4	655	-			180					B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.620T>G	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739399	0.49045	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.05382	3.47;3.45;3.51	4.02	4.02	0.46733	.	0.000000	0.31301	U	0.007892	T	0.21881	0.0527	M	0.75085	2.285	0.36426	D	0.864629	D	0.89917	1.0	D	0.87578	0.998	T	0.09292	-1.0681	10	0.87932	D	0	-9.0623	9.8608	0.41114	1.0:0.0:0.0:0.0	.	180	Q496F6	CLM2_HUMAN	R	207;221;180	ENSP00000376395:L207R;ENSP00000416642:L221R;ENSP00000329942:L180R	ENSP00000329942:L180R	L	-	2	0	CD300E	70120466	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	2.683000	0.46943	1.779000	0.52309	0.172000	0.16884	CTG		0.617	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		36	56	0	0	0	1	0	36	56				
IGSF21	84966	broad.mit.edu	37	1	18661444	18661444	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:18661444G>A	ENST00000251296.1	+	4	747	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	122	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGGCATCTACGACCGCGCCAC	0.622																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(364-366)Gac>Aac		immunoglobin superfamily, member 21							102.0	75.0	84.0					1																	18661444		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18661444G>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.364G>A	1.37:g.18661444G>A	ENSP00000251296:p.Asp122Asn						p.D122N	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	4	747	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	122			Ig-like 1.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.364G>A	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	33|33	5.247389|5.247389	0.95305|0.95305	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|.	0.55413|.	0.52|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72350|0.72350	0.3449|0.3449	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.83275|.	0.996|.	T|T	0.69442|0.69442	-0.5144|-0.5144	10|5	0.09084|.	T|.	0.74|.	-1.3104|-1.3104	18.1211|18.1211	0.89572|0.89572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	122|.	Q96ID5|.	IGS21_HUMAN|.	N|Q	122|74	ENSP00000251296:D122N|.	ENSP00000251296:D122N|.	D|R	+|+	1|2	0|0	IGSF21|IGSF21	18534031|18534031	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.882000|0.882000	0.50991|0.50991	8.136000|8.136000	0.89610|0.89610	2.614000|2.614000	0.88457|0.88457	0.651000|0.651000	0.88453|0.88453	GAC|CGA		0.622	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		27	21	0	0	0	1	0	27	21				
PDE10A	10846	broad.mit.edu	37	6	165809838	165809838	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:165809838G>A	ENST00000366882.1	-	15	1513	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	PDE10A_ENST00000354448.4_Silent_p.T453T|PDE10A_ENST00000539869.2_Silent_p.T463T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	453					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCACGGGAAGGGTGAATTGCA	0.418																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1357-1359)acC>acT		phosphodiesterase 10A	Dipyridamole(DB00975)						197.0	166.0	177.0					6																	165809838		2203	4300	6503	SO:0001819	synonymous_variant	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165809838G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1359C>T	6.37:g.165809838G>A						PDE10A_ENST00000539869.2_Silent_p.T463T|PDE10A_ENST00000354448.4_Silent_p.T453T	p.T453T			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1513	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	453					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	ENST00000366882.1	37	c.1359C>T																																																																																					0.418	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			43	22	0	0	0	1	0	43	22				
LONRF3	79836	broad.mit.edu	37	X	118124489	118124489	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118124489G>A	ENST00000371628.3	+	5	1412	c.1381G>A	c.(1381-1383)Gac>Aac	p.D461N	LONRF3_ENST00000304778.7_Missense_Mutation_p.D420N|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205N	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	461							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.D461Y(1)|p.D420Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGCATCTTTCGACGCATCTGA	0.493																																						ENST00000365713.2																			2	Substitution - Missense(2)	p.D461Y(1)|p.D420Y(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1258-1260)Gac>Aac		LON peptidase N-terminal domain and ring finger 3							333.0	210.0	252.0					X																	118124489		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118124489G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1381G>A	X.37:g.118124489G>A	ENSP00000360690:p.Asp461Asn					LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D461N|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205N|LONRF3_ENST00000304778.7_Missense_Mutation_p.D420N	p.D420N			Q496Y0	LONF3_HUMAN			4	1421	+			461					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1258G>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.241500|4.241500	0.79912|0.79912	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	D;D;T;D|.	0.86030|.	-1.63;-1.63;-1.45;-2.06|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.27053|0.27053	0.805|0.805	0.48762|0.48762	D|D	0.999708|0.999708	D;D;D|.	0.89917|.	0.995;1.0;0.998|.	P;D;P|.	0.78314|.	0.691;0.991;0.849|.	T|T	0.50285|0.50285	-0.8846|-0.8846	10|5	0.44086|.	T|.	0.13|.	-27.8241|-27.8241	15.35|15.35	0.74376|0.74376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	205;420;461|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	N|Q	420;420;461;205|226	ENSP00000360691:D420N;ENSP00000307732:D420N;ENSP00000360690:D461N;ENSP00000408894:D205N|.	ENSP00000307732:D420N|.	D|R	+|+	1|2	0|0	LONRF3|LONRF3	118008517|118008517	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.682000|0.682000	0.39822|0.39822	5.651000|5.651000	0.67951|0.67951	2.357000|2.357000	0.79964|0.79964	0.600000|0.600000	0.82982|0.82982	GAC|CGA		0.493	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		58	56	0	0	0	1	0	58	56				
GRIN1	2902	broad.mit.edu	37	9	140056969	140056969	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:140056969G>A	ENST00000371561.3	+	13	2961		c.e13+1		GRIN1_ENST00000315048.3_Splice_Site|GRIN1_ENST00000371555.4_Splice_Site|GRIN1_ENST00000471122.1_Splice_Site|GRIN1_ENST00000371560.3_Splice_Site|GRIN1_ENST00000350902.5_Splice_Site|GRIN1_ENST00000371553.3_Splice_Site|GRIN1_ENST00000371546.4_Splice_Site|GRIN1_ENST00000371559.4_Splice_Site|GRIN1_ENST00000371550.4_Splice_Site	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1						adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATCGGGGAAGGTAAGGCCCCG	0.697																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e13+1		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						20.0	24.0	22.0					9																	140056969		2197	4296	6493	SO:0001630	splice_region_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056969G>A		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1864+1G>A	9.37:g.140056969G>A						GRIN1_ENST00000471122.1_Splice_Site|GRIN1_ENST00000371546.4_Splice_Site|GRIN1_ENST00000371550.4_Splice_Site|GRIN1_ENST00000371555.4_Splice_Site|GRIN1_ENST00000371559.4_Splice_Site|GRIN1_ENST00000371560.3_Splice_Site|GRIN1_ENST00000371553.3_Splice_Site|GRIN1_ENST00000315048.3_Splice_Site|GRIN1_ENST00000350902.5_Splice_Site		NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	13	2961	+	all_cancers(76;0.0926)							A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Splice_Site	SNP	ENST00000371561.3	37		CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	18.88	3.716663	0.68844	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3219	0.74129	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIN1	139176790	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.896000	0.92521	1.939000	0.56221	0.444000	0.29173	.		0.697	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327	Intron	13	1	0	0	0	1	0	13	1				
SERPINE1	5054	broad.mit.edu	37	7	100775222	100775222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100775222C>T	ENST00000223095.4	+	4	729	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A176V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	191					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGTGAATGCCCTCTACTTC	0.557																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(571-573)gCc>gTc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						125.0	123.0	124.0					7																	100775222		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100775222C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.572C>T	7.37:g.100775222C>T	ENSP00000223095:p.Ala191Val					SERPINE1_ENST00000445463.2_Missense_Mutation_p.A176V	p.A191V	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			4	729	+	Lung NSC(181;0.136)|all_lung(186;0.182)		191					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.572C>T	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075755	0.94000	.	.	ENSG00000106366	ENST00000223095;ENST00000445463	D;D	0.86956	-2.19;-2.19	5.19	5.19	0.71726	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95283	0.8388	10	0.87932	D	0	.	16.2563	0.82519	0.0:1.0:0.0:0.0	.	176;191	F8WD53;P05121	.;PAI1_HUMAN	V	191;176	ENSP00000223095:A191V;ENSP00000396766:A176V	ENSP00000223095:A191V	A	+	2	0	SERPINE1	100561942	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	6.279000	0.72620	2.699000	0.92147	0.563000	0.77884	GCC		0.557	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		74	160	0	0	0	1	0	74	160				
ENPP6	133121	broad.mit.edu	37	4	185018506	185018506	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:185018506G>A	ENST00000296741.2	-	7	1150	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	337					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ATCCAAAACGGAAGCATCTCT	0.602																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1009-1011)Ccg>Tcg		ectonucleotide pyrophosphatase/phosphodiesterase 6							96.0	84.0	88.0					4																	185018506		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185018506G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1009C>T	4.37:g.185018506G>A	ENSP00000296741:p.Pro337Ser						p.P337S	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	7	1150	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	337					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1009C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081730	0.94050	.	.	ENSG00000164303	ENST00000296741	T	0.74737	-0.87	5.41	5.41	0.78517	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.81998	-0.0675	10	0.41790	T	0.15	-16.0894	19.0059	0.92851	0.0:0.0:1.0:0.0	.	337	Q6UWR7	ENPP6_HUMAN	S	337	ENSP00000296741:P337S	ENSP00000296741:P337S	P	-	1	0	ENPP6	185255500	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	8.393000	0.90182	2.826000	0.97356	0.561000	0.74099	CCG		0.602	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		20	30	0	0	0	1	0	20	30				
AXIN1	8312	broad.mit.edu	37	16	396184	396184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:396184G>A	ENST00000262320.3	-	2	1213	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AXIN1_ENST00000354866.3_Missense_Mutation_p.S281F|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	281	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCTACTGGAGGAGACCCTCGG	0.607																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(841-843)tCc>tTc		axin 1							43.0	46.0	45.0					16																	396184		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:396184G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.842C>T	16.37:g.396184G>A	ENSP00000262320:p.Ser281Phe					AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.S281F	p.S281F	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			2	1213	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	281			Interaction with TP53 (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.842C>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837712	0.50951	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.84223	-1.82;-1.82	5.25	5.25	0.73442	.	0.401484	0.27056	N	0.021152	D	0.84629	0.5514	L	0.53249	1.67	0.37152	D	0.902182	P;P	0.44195	0.828;0.736	B;B	0.43783	0.431;0.332	D	0.87305	0.2308	10	0.44086	T	0.13	.	17.0306	0.86460	0.0:0.0:1.0:0.0	.	281;281	O15169-2;O15169	.;AXIN1_HUMAN	F	281	ENSP00000262320:S281F;ENSP00000346935:S281F	ENSP00000262320:S281F	S	-	2	0	AXIN1	336185	0.999000	0.42202	0.257000	0.24404	0.928000	0.56348	3.393000	0.52544	2.435000	0.82474	0.655000	0.94253	TCC		0.607	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			32	26	0	0	0	1	0	32	26				
SLC23A2	9962	broad.mit.edu	37	20	4843526	4843526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:4843526C>T	ENST00000379333.1	-	14	1776	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	SLC23A2_ENST00000424750.2_Missense_Mutation_p.G348R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G462R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	462					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGGGCTGCTCCGCACTGTATC	0.572																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1384-1386)Gga>Aga		solute carrier family 23 (ascorbic acid transporter), member 2							52.0	48.0	50.0					20																	4843526		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4843526C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1384G>A	20.37:g.4843526C>T	ENSP00000368637:p.Gly462Arg					SLC23A2_ENST00000424750.2_Missense_Mutation_p.G348R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G462R	p.G462R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			14	1776	-			462					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1384G>A	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.525864|4.525864	0.85600|0.85600	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.18338|.	2.22;2.22;2.22|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85375|0.85375	0.5682|0.5682	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	D|D	0.87401|0.87401	0.2369|0.2369	10|5	0.87932|.	D|.	0|.	-16.1487|-16.1487	18.5627|18.5627	0.91107|0.91107	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	348;462|.	B4DJZ1;Q9UGH3|.	.;S23A2_HUMAN|.	R|Q	462;462;348|218	ENSP00000368637:G462R;ENSP00000344322:G462R;ENSP00000406601:G348R|.	ENSP00000344322:G462R|.	G|R	-|-	1|2	0|0	SLC23A2|SLC23A2	4791526|4791526	1.000000|1.000000	0.71417|0.71417	0.334000|0.334000	0.25495|0.25495	0.433000|0.433000	0.31745|0.31745	7.378000|7.378000	0.79679|0.79679	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.572	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			11	29	0	0	0	1	0	11	29				
COPG1	22820	broad.mit.edu	37	3	128976644	128976644	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:128976644C>T	ENST00000314797.6	+	10	916	c.812C>T	c.(811-813)gCc>gTc	p.A271V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	271					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TATGAAGCCGCCTCGGCCATC	0.557																																						ENST00000314797.6																			0											c.(811-813)gCc>gTc		coatomer protein complex, subunit gamma 1							170.0	168.0	169.0					3																	128976644		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976644C>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.812C>T	3.37:g.128976644C>T	ENSP00000325002:p.Ala271Val						p.A271V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			10	916	+			271					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.812C>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111515	0.77210	.	.	ENSG00000181789	ENST00000314797	T	0.22743	1.94	6.04	6.04	0.98038	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.37046	0.0989	M	0.89287	3.02	0.58432	D	0.999996	B	0.21147	0.052	B	0.25987	0.065	T	0.16541	-1.0399	10	0.35671	T	0.21	-20.2013	18.1335	0.89609	0.0:1.0:0.0:0.0	.	271	Q9Y678	COPG_HUMAN	V	271	ENSP00000325002:A271V	ENSP00000325002:A271V	A	+	2	0	COPG	130459334	1.000000	0.71417	0.370000	0.25965	0.042000	0.13812	5.970000	0.70431	2.881000	0.98747	0.650000	0.86243	GCC		0.557	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		83	134	0	0	0	1	0	83	134				
PRPS2	5634	broad.mit.edu	37	X	12809655	12809655	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:12809655G>A	ENST00000380668.5	+	1	167	c.39G>A	c.(37-39)caG>caA	p.Q13Q	PRPS2_ENST00000398491.2_Silent_p.Q13Q|PRPS2_ENST00000489404.1_Silent_p.Q13Q	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	13					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCTCGCATCAGGACCTGTCCC	0.711																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(37-39)caG>caA		phosphoribosyl pyrophosphate synthetase 2							16.0	14.0	15.0					X																	12809655		2163	4225	6388	SO:0001819	synonymous_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12809655G>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.39G>A	X.37:g.12809655G>A						PRPS2_ENST00000489404.1_Silent_p.Q13Q|PRPS2_ENST00000398491.2_Silent_p.Q13Q	p.Q13Q	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			1	167	+			13					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	ENST00000380668.5	37	c.39G>A	CCDS14150.1																																																																																				0.711	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		18	26	0	0	0	1	0	18	26				
THRAP3	9967	broad.mit.edu	37	1	36752627	36752627	+	Missense_Mutation	SNP	C	C	T	rs554014632		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:36752627C>T	ENST00000354618.5	+	4	1020	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R266C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	266	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGGTCACCCCGTCCTAGCCC	0.617			T	USP6	aneurysmal bone cysts								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17751	0.0		0.0	False		,,,				2504	0.0				Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(796-798)Cgt>Tgt		thyroid hormone receptor associated protein 3							63.0	64.0	63.0					1																	36752627		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752627C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.796C>T	1.37:g.36752627C>T	ENSP00000346634:p.Arg266Cys					THRAP3_ENST00000469141.2_Missense_Mutation_p.R266C	p.R266C	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	1020	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	266			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.796C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371941	0.61624	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14640	2.49;2.49	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.31888	0.0811	L	0.51422	1.61	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.00520	-1.1692	10	0.66056	D	0.02	-6.7097	14.0418	0.64681	0.1507:0.8493:0.0:0.0	.	266	Q9Y2W1	TR150_HUMAN	C	266	ENSP00000346634:R266C;ENSP00000433825:R266C	ENSP00000346634:R266C	R	+	1	0	THRAP3	36525214	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.466000	0.53071	2.753000	0.94483	0.655000	0.94253	CGT		0.617	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		43	40	0	0	0	1	0	43	40				
LANCL3	347404	broad.mit.edu	37	X	37431157	37431157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:37431157G>A	ENST00000378619.3	+	1	253	c.34G>A	c.(34-36)Gat>Aat	p.D12N	LANCL3_ENST00000378621.3_Missense_Mutation_p.D12N|TM4SF2_ENST00000465127.1_Intron	NM_001170331.1	NP_001163802.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	12							catalytic activity (GO:0003824)			lung(4)|pancreas(1)	5						CAATCGCTTCGATGACTACCA	0.667																																						ENST00000378621.3																			0				lung(4)|pancreas(1)	5						c.(34-36)Gat>Aat		LanC lantibiotic synthetase component C-like 3 (bacterial)							11.0	10.0	10.0					X																	37431157		2115	4123	6238	SO:0001583	missense	347404						catalytic activity	g.chrX:37431157G>A	AK124915	CCDS14240.1, CCDS55398.1	Xp21.1	2008-02-05			ENSG00000147036	ENSG00000147036			24767	protein-coding gene	gene with protein product							Standard	NM_198511		Approved	FLJ42925	uc011mkd.2	Q6ZV70	OTTHUMG00000033177	ENST00000378619.3:c.34G>A	X.37:g.37431157G>A	ENSP00000367882:p.Asp12Asn					LANCL3_ENST00000378619.3_Missense_Mutation_p.D12N|TM4SF2_ENST00000465127.1_Intron	p.D12N	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN			1	336	+			12					A6NHE3	Missense_Mutation	SNP	ENST00000378619.3	37	c.34G>A	CCDS55398.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337910	0.41398	.	.	ENSG00000147036	ENST00000378621;ENST00000378619	.	.	.	4.83	4.83	0.62350	.	0.287283	0.31134	N	0.008189	T	0.26810	0.0656	N	0.19112	0.55	0.40787	D	0.98322	P;P	0.46327	0.645;0.876	B;B	0.34138	0.028;0.176	T	0.09271	-1.0682	9	0.21014	T	0.42	-5.4741	11.9711	0.53063	0.0:0.0:0.8266:0.1734	.	12;12	Q6ZV70;Q6ZV70-2	LANC3_HUMAN;.	N	12	.	ENSP00000367882:D12N	D	+	1	0	LANCL3	37316076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.727000	0.54984	1.978000	0.57642	0.476000	0.43555	GAT		0.667	LANCL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080885.1	NM_198511		9	24	0	0	0	1	0	9	24				
SLC35B2	347734	broad.mit.edu	37	6	44224578	44224578	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:44224578G>A	ENST00000393812.3	-	2	192	c.49C>T	c.(49-51)Cta>Tta	p.L17L	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.L17L|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	17					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGCCCCTAGGGAGGGGAAC	0.602																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(49-51)Cta>Tta		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							64.0	68.0	67.0					6																	44224578		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224578G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.49C>T	6.37:g.44224578G>A						SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.L17L|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR	p.L17L	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	192	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		17					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.49C>T	CCDS34462.1																																																																																				0.602	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			9	37	0	0	0	1	0	9	37				
MRPL48	51642	broad.mit.edu	37	11	73555875	73555875	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:73555875G>T	ENST00000310614.7	+	5	881	c.225G>T	c.(223-225)gtG>gtT	p.V75V	MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000535529.1_Silent_p.V57V|MRPL48_ENST00000314282.7_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	75						mitochondrial ribosome (GO:0005761)				kidney(1)	1						AGGGAAAAGTGGAAGTGAGAG	0.333																																						ENST00000535529.1																			0				kidney(1)	1						c.(169-171)gtG>gtT		mitochondrial ribosomal protein L48							82.0	76.0	78.0					11																	73555875		1817	4066	5883	SO:0001819	synonymous_variant	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555875G>T	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.225G>T	11.37:g.73555875G>T						MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000310614.7_Silent_p.V75V	p.V57V			Q96GC5	RM48_HUMAN			6	383	+			75					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Silent	SNP	ENST00000310614.7	37	c.171G>T	CCDS44676.1																																																																																				0.333	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		13	28	1	0	1.49906e-05	1	1.50627e-05	13	28				
CAPN6	827	broad.mit.edu	37	X	110494328	110494328	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494328C>A	ENST00000324068.1	-	8	1142	c.975G>T	c.(973-975)atG>atT	p.M325I	CAPN6_ENST00000541758.1_Missense_Mutation_p.M70I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	325	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CCTCCAAGCTCATCCTGAATG	0.438																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(973-975)atG>atT		calpain 6							220.0	205.0	210.0					X																	110494328		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494328C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.975G>T	X.37:g.110494328C>A	ENSP00000317214:p.Met325Ile					CAPN6_ENST00000541758.1_Missense_Mutation_p.M70I	p.M325I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1142	-			325			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.975G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263299	0.59431	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.52295	0.67;2.19	5.95	5.06	0.68205	Peptidase C2, calpain, catalytic domain (3);	0.090181	0.64402	N	0.000001	T	0.59770	0.2218	M	0.77712	2.385	0.80722	D	1	P	0.44241	0.829	P	0.49683	0.619	T	0.64141	-0.6477	10	0.72032	D	0.01	.	12.5637	0.56297	0.0:0.915:0.0:0.085	.	325	Q9Y6Q1	CAN6_HUMAN	I	325;70	ENSP00000317214:M325I;ENSP00000441736:M70I	ENSP00000317214:M325I	M	-	3	0	CAPN6	110380984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.481000	0.60250	1.180000	0.42898	0.600000	0.82982	ATG		0.438	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			126	229	1	0	2.02856e-45	1	2.07769e-45	126	229				
HAUS5	23354	broad.mit.edu	37	19	36113525	36113525	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36113525C>T	ENST00000203166.5	+	18	1699	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	558					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCAGGCATCCCAGGAAAAAC	0.562																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1672-1674)tcC>tcT		HAUS augmin-like complex, subunit 5							40.0	43.0	42.0					19																	36113525		1995	4168	6163	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113525C>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1674C>T	19.37:g.36113525C>T						HAUS5_ENST00000379045.2_3'UTR	p.S558S	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			18	1699	+			558					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.1674C>T	CCDS42550.1																																																																																				0.562	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			14	25	0	0	0	1	0	14	25				
LRRC4C	57689	broad.mit.edu	37	11	40137329	40137329	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137329G>A	ENST00000278198.2	-	2	2477	c.514C>T	c.(514-516)Cct>Tct	p.P172S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	172					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGCAAAGAAGGAATTCTGTTA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(514-516)Cct>Tct		leucine rich repeat containing 4C							92.0	92.0	92.0					11																	40137329		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137329G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.514C>T	11.37:g.40137329G>A	ENSP00000278198:p.Pro172Ser					LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172S	p.P172S			Q9HCJ2	LRC4C_HUMAN			2	2477	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	172					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.514C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783425	0.49891	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.82	5.82	0.92795	.	0.052648	0.85682	D	0.000000	D	0.86594	0.5970	L	0.33792	1.035	0.58432	D	0.999997	P	0.44521	0.837	P	0.45506	0.483	D	0.84046	0.0367	10	0.23891	T	0.37	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	172	Q9HCJ2	LRC4C_HUMAN	S	172	ENSP00000278198:P172S;ENSP00000436976:P172S;ENSP00000437132:P172S;ENSP00000434761:P172S	ENSP00000278198:P172S	P	-	1	0	LRRC4C	40093905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.867000	0.87062	2.754000	0.94517	0.650000	0.86243	CCT		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		32	47	0	0	0	1	0	32	47				
ITGA7	3679	broad.mit.edu	37	12	56078980	56078980	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56078980C>T	ENST00000555728.1	-	26	3436	c.3408G>A	c.(3406-3408)aaG>aaA	p.K1136K	ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000452168.2_Silent_p.K999K|ITGA7_ENST00000553804.1_Silent_p.K1096K|ITGA7_ENST00000257879.6_Silent_p.K1092K|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.K1086K|ITGA7_ENST00000257880.7_3'UTR			Q13683	ITA7_HUMAN	integrin, alpha 7	1136					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTCCTCCTTGAACTGCT	0.637																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3274-3276)aaG>aaA		integrin, alpha 7							89.0	79.0	82.0					12																	56078980		2203	4300	6503	SO:0001819	synonymous_variant	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078980C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3408G>A	12.37:g.56078980C>T						ITGA7_ENST00000555728.1_Silent_p.K1136K|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_Silent_p.K1096K|ITGA7_ENST00000452168.2_Silent_p.K999K|ITGA7_ENST00000347027.6_Silent_p.K1086K|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR	p.K1092K	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3491	-			1136					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37	c.3276G>A		.	.	.	.	.	.	.	.	.	.	C	10.23	1.292211	0.23564	.	.	ENSG00000135424	ENST00000557555	.	.	.	5.12	4.22	0.49857	.	.	.	.	.	T	0.62708	0.2450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60546	-0.7242	4	.	.	.	.	11.5436	0.50679	0.0:0.9119:0.0:0.0881	.	.	.	.	K	160	.	.	R	-	2	0	ITGA7	54365247	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.180000	0.16860	1.151000	0.42436	0.555000	0.69702	AGG		0.637	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		28	57	0	0	0	1	0	28	57				
FAH	2184	broad.mit.edu	37	15	80465430	80465430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:80465430C>T	ENST00000407106.1	+	10	936	c.781C>T	c.(781-783)Ccg>Tcg	p.P261S	FAH_ENST00000261755.5_Missense_Mutation_p.P261S|FAH_ENST00000561421.1_Missense_Mutation_p.P261S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Missense_Mutation_p.P191S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261			P -> L (in TYRSN1). {ECO:0000269|PubMed:9633815}.		arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACTGTCTCTCCGTGGGTGGT	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(571-573)Ccg>Tcg		fumarylacetoacetate hydrolase (fumarylacetoacetase)							200.0	167.0	178.0					15																	80465430		2203	4300	6503	SO:0001583	missense	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465430C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.781C>T	15.37:g.80465430C>T	ENSP00000385080:p.Pro261Ser		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261S|FAH_ENST00000407106.1_Missense_Mutation_p.P261S|FAH_ENST00000261755.5_Missense_Mutation_p.P261S	p.P191S			P16930	FAAA_HUMAN			8	2809	+			261					B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	c.571C>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417712	0.62622	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.99270	-5.66;-5.66;-5.66	4.58	4.58	0.56647	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97754	1.0216	10	0.87932	D	0	-17.0625	16.1256	0.81392	0.0:1.0:0.0:0.0	.	261	P16930	FAAA_HUMAN	S	261;261;191	ENSP00000385080:P261S;ENSP00000261755:P261S;ENSP00000454271:P191S	ENSP00000261755:P261S	P	+	1	0	FAH	78252485	1.000000	0.71417	0.534000	0.28014	0.309000	0.27889	6.868000	0.75516	2.082000	0.62665	0.563000	0.77884	CCG		0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			53	82	0	0	0	1	0	53	82				
C7	730	broad.mit.edu	37	5	40981622	40981622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:40981622G>A	ENST00000313164.9	+	18	2838	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	827	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|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)							Ovarian(839;0.0112)				GAGATGCAGAGGGCAGAGCAT	0.577																																						ENST00000313164.9																			0											c.(2479-2481)Ggg>Agg		complement component 7							61.0	63.0	62.0					5																	40981622		2098	4223	6321	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981622G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2479G>A	5.37:g.40981622G>A	ENSP00000322061:p.Gly827Arg						p.G827R	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			18	2838	+		Ovarian(839;0.0112)	827			Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2479G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289109	0.59976	.	.	ENSG00000112936	ENST00000313164	T	0.63744	-0.06	5.83	5.83	0.93111	Factor I / membrane attack complex (1);	0.056332	0.64402	D	0.000001	T	0.80352	0.4607	M	0.81497	2.545	0.52501	D	0.999953	D	0.76494	0.999	D	0.64144	0.922	T	0.82028	-0.0660	10	0.87932	D	0	-13.0875	19.7325	0.96188	0.0:0.0:1.0:0.0	.	827	P10643	CO7_HUMAN	R	827	ENSP00000322061:G827R	ENSP00000322061:G827R	G	+	1	0	C7	41017379	1.000000	0.71417	0.041000	0.18516	0.083000	0.17756	6.644000	0.74338	2.763000	0.94921	0.563000	0.77884	GGG		0.577	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			9	11	0	0	0	1	0	9	11				
HMCN1	83872	broad.mit.edu	37	1	186022089	186022089	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:186022089C>T	ENST00000271588.4	+	43	6812	c.6583C>T	c.(6583-6585)Cca>Tca	p.P2195S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2195S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2195	Ig-like C2-type 20.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTAGTCCCCCCAAATATTGG	0.338																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6583-6585)Cca>Tca		hemicentin 1							87.0	91.0	90.0					1																	186022089		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186022089C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6583C>T	1.37:g.186022089C>T	ENSP00000271588:p.Pro2195Ser					HMCN1_ENST00000367492.2_Missense_Mutation_p.P2195S	p.P2195S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			43	6812	+			2195			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6583C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630045	0.87660	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.92397	-3.03;-3.03	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100293	0.64402	D	0.000001	D	0.97517	0.9187	H	0.96175	3.78	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98686	1.0694	10	0.72032	D	0.01	.	18.7855	0.91952	0.0:1.0:0.0:0.0	.	2195	Q96RW7	HMCN1_HUMAN	S	2195	ENSP00000271588:P2195S;ENSP00000356462:P2195S	ENSP00000271588:P2195S	P	+	1	0	HMCN1	184288712	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.113000	0.77095	2.432000	0.82394	0.650000	0.86243	CCA		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	43	0	0	0	1	0	7	43				
CPA3	1359	broad.mit.edu	37	3	148599358	148599358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:148599358G>A	ENST00000296046.3	+	7	678	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTCTTGGACCGAATGAATTTT	0.338																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(625-627)cGa>cAa		carboxypeptidase A3 (mast cell)							125.0	122.0	123.0					3																	148599358		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148599358G>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.626G>A	3.37:g.148599358G>A	ENSP00000296046:p.Arg209Gln					RP11-680B3.2_ENST00000488190.1_RNA	p.R209Q	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	678	+			209					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.626G>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	g	1.401	-0.578050	0.03854	.	.	ENSG00000163751	ENST00000296046	T	0.29397	1.57	5.06	-3.04	0.05412	Peptidase M14, carboxypeptidase A (2);	0.546116	0.18299	N	0.145492	T	0.13970	0.0338	N	0.11818	0.18	0.09310	N	1	B	0.15719	0.014	B	0.15052	0.012	T	0.27123	-1.0083	10	0.14656	T	0.56	.	12.6097	0.56544	0.653:0.0:0.347:0.0	.	209	P15088	CBPA3_HUMAN	Q	209	ENSP00000296046:R209Q	ENSP00000296046:R209Q	R	+	2	0	CPA3	150082048	0.000000	0.05858	0.566000	0.28421	0.223000	0.24884	-1.436000	0.02421	-0.913000	0.03832	-1.082000	0.02213	CGA		0.338	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		14	35	0	0	0	1	0	14	35				
MYT1	4661	broad.mit.edu	37	20	62854481	62854481	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62854481G>T	ENST00000328439.1	+	15	2778	c.2414G>T	c.(2413-2415)tGt>tTt	p.C805F	MYT1_ENST00000360149.4_Missense_Mutation_p.C507F|MYT1_ENST00000536311.1_Missense_Mutation_p.C832F	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACCCCTGGCTGTGACGGCAGC	0.642																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2494-2496)tGt>tTt		myelin transcription factor 1							126.0	125.0	126.0					20																	62854481		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854481G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2414G>T	20.37:g.62854481G>T	ENSP00000327465:p.Cys805Phe					MYT1_ENST00000328439.1_Missense_Mutation_p.C805F|MYT1_ENST00000360149.4_Missense_Mutation_p.C507F	p.C832F			Q01538	MYT1_HUMAN			15	2859	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		805					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2495G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703648	0.68501	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.62232	0.72;0.04;0.06	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	M	0.90977	3.165	0.80722	D	1	P;D;D	0.89917	0.946;0.988;1.0	P;D;D	0.91635	0.509;0.934;0.999	D	0.87607	0.2501	10	0.87932	D	0	-9.1582	19.3909	0.94583	0.0:0.0:1.0:0.0	.	832;805;507	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	F	507;805;832	ENSP00000353269:C507F;ENSP00000327465:C805F;ENSP00000442412:C832F	ENSP00000327465:C805F	C	+	2	0	MYT1	62324925	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.688000	0.98670	2.568000	0.86640	0.655000	0.94253	TGT		0.642	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		57	97	1	0	2.67592e-24	1	2.73319e-24	57	97				
TBC1D29	26083	broad.mit.edu	37	17	28889931	28889931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:28889931C>T	ENST00000580161.1	+	5	2720	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_Intron|TBC1D29_ENST00000579181.1_Missense_Mutation_p.P75S			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	75							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				ACCTGCCACCCCCAGGTGGGC	0.522																																						ENST00000580161.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(223-225)Ccc>Tcc		TBC1 domain family, member 29							65.0	70.0	68.0					17																	28889931		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28889931C>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.223C>T	17.37:g.28889931C>T	ENSP00000462799:p.Pro75Ser					TBC1D29_ENST00000579181.1_Missense_Mutation_p.P75S|TBC1D29_ENST00000584297.1_Intron	p.P75S			Q9UFV1	TBC29_HUMAN			5	2720	+		Myeloproliferative disorder(56;0.0255)	75						Missense_Mutation	SNP	ENST00000580161.1	37	c.223C>T	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	1.315	-0.601029	0.03744	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	Rab-GAP/TBC domain (1);	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.20307	N	0.999915	P	0.51449	0.945	P	0.56648	0.803	T	0.15292	-1.0442	6	0.48119	T	0.1	.	.	.	.	.	75	Q9UFV1	TBC29_HUMAN	S	75	.	ENSP00000330052:P75S	P	+	1	0	TBC1D29	25914057	0.275000	0.24201	0.021000	0.16686	0.048000	0.14542	-1.162000	0.03141	-0.475000	0.06852	0.109000	0.15622	CCC		0.522	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		24	44	0	0	0	1	0	24	44				
SLC4A1	6521	broad.mit.edu	37	17	42336948	42336948	+	Splice_Site	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42336948C>G	ENST00000262418.6	-	8	766	c.611G>C	c.(610-612)gGa>gCa	p.G204A	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	204	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCCCATCTCCCTGTGGGAA	0.592																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.e8-1		solute carrier family 4 (anion exchanger), member 1							69.0	64.0	66.0					17																	42336948		2203	4300	6503	SO:0001630	splice_region_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42336948C>G		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.610-1G>C	17.37:g.42336948C>G						AC003043.1_ENST00000597382.1_Intron	p.G204_splice	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	8	766	-		Breast(137;0.014)|Prostate(33;0.0181)	204					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Splice_Site	SNP	ENST00000262418.6	37	c.609_splice	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	5.950	0.359246	0.11239	.	.	ENSG00000004939	ENST00000262418	T	0.79749	-1.3	5.34	2.13	0.27403	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.908359	0.09088	N	0.850266	T	0.67524	0.2902	L	0.37561	1.115	0.09310	N	0.999993	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.49273	-0.8957	10	0.19147	T	0.46	.	3.6373	0.08154	0.167:0.5667:0.174:0.0924	.	204;204	E2RVJ0;P02730	.;B3AT_HUMAN	A	204	ENSP00000262418:G204A	ENSP00000262418:G204A	G	-	2	0	SLC4A1	39692474	0.001000	0.12720	0.174000	0.22961	0.282000	0.26991	0.148000	0.16224	0.211000	0.20683	0.456000	0.33151	GGA		0.592	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	Missense_Mutation	26	27	0	0	0	1	0	26	27				
DEFB123	245936	broad.mit.edu	37	20	30028510	30028510	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:30028510C>T	ENST00000376309.3	+	1	189	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	defensin, beta 123	3					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(1)|lung(2)	3	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCATGAAGCTCCTTTTGCTGA	0.557																																						ENST00000376309.3																			0				kidney(1)|lung(2)	3						c.(7-9)ctC>ctT		defensin, beta 123							383.0	336.0	352.0					20																	30028510		2203	4300	6503	SO:0001819	synonymous_variant	245936				defense response to bacterium	extracellular region		g.chr20:30028510C>T	AA933749	CCDS13180.1	20q11.1	2008-07-17			ENSG00000180424	ENSG00000180424		"""Defensins, beta"""	18103	protein-coding gene	gene with protein product	"""beta defensin 23"""					11854508	Standard	NM_153324		Approved	DEFB-23	uc002wvy.3	Q8N688	OTTHUMG00000032170	ENST00000376309.3:c.9C>T	20.37:g.30028510C>T							p.L3L	NM_153324.2	NP_697019.1	Q8N688	DB123_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	189	+	Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		3						Silent	SNP	ENST00000376309.3	37	c.9C>T	CCDS13180.1																																																																																				0.557	DEFB123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078510.2	NM_153324		124	212	0	0	0	1	0	124	212				
HYAL3	8372	broad.mit.edu	37	3	50330826	50330826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50330826G>A	ENST00000336307.1	-	4	1377	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.R120W|HYAL3_ENST00000359051.3_Missense_Mutation_p.R339W|HYAL3_ENST00000450982.1_Missense_Mutation_p.R339W|HYAL3_ENST00000513170.1_Missense_Mutation_p.R90W	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	369	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCTCGCCGGGCACAGCGC	0.617																																						ENST00000336307.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(1105-1107)Cgg>Tgg		hyaluronoglucosaminidase 3							51.0	51.0	51.0					3																	50330826		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50330826G>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.1105C>T	3.37:g.50330826G>A	ENSP00000337425:p.Arg369Trp					HYAL3_ENST00000513170.1_Missense_Mutation_p.R90W|HYAL3_ENST00000450982.1_Missense_Mutation_p.R339W|HYAL3_ENST00000415204.1_Missense_Mutation_p.R120W|HYAL3_ENST00000359051.3_Missense_Mutation_p.R339W	p.R369W	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	4	1377	-			369			EGF-like.		O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.1105C>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747308	0.30955	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	T;T;T;T	0.54675	1.55;1.9;0.56;1.55	5.26	-4.88	0.03113	Epidermal growth factor-like (1);	0.149182	0.41823	N	0.000815	T	0.32255	0.0823	L	0.39898	1.24	0.38038	D	0.935363	B;B;B;B	0.21452	0.056;0.016;0.009;0.016	B;B;B;B	0.08055	0.003;0.003;0.001;0.003	T	0.00684	-1.1611	10	0.48119	T	0.1	-4.9088	4.9955	0.14237	0.4391:0.0:0.1961:0.3648	.	90;120;369;339	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	W	339;369;120;90;339	ENSP00000351946:R339W;ENSP00000337425:R369W;ENSP00000401092:R120W;ENSP00000391922:R339W	ENSP00000337425:R369W	R	-	1	2	HYAL3	50305830	0.003000	0.15002	0.349000	0.25694	0.732000	0.41865	-0.099000	0.11007	-1.419000	0.02012	-0.812000	0.03155	CGG		0.617	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		22	32	0	0	0	1	0	22	32				
ACTBL2	345651	broad.mit.edu	37	5	56778022	56778022	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:56778022G>A	ENST00000423391.1	-	1	614	c.513C>T	c.(511-513)gcC>gcT	p.A171A	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	171						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATGAGGCAGGGCATAACCTT	0.547																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(511-513)gcC>gcT		actin, beta-like 2							102.0	86.0	91.0					5																	56778022		2203	4300	6503	SO:0001819	synonymous_variant	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778022G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.513C>T	5.37:g.56778022G>A						CTD-2023N9.1_ENST00000506106.1_RNA	p.A171A	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	614	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	171					B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	c.513C>T	CCDS34163.1																																																																																				0.547	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		22	53	0	0	0	1	0	22	53				
PRPS1L1	221823	broad.mit.edu	37	7	18066490	18066490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:18066490C>T	ENST00000506618.2	-	1	996	c.916G>A	c.(916-918)Ggg>Agg	p.G306R		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	306					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					ACAGATTCCCCATTATGAGTT	0.343																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(916-918)Ggg>Agg		phosphoribosyl pyrophosphate synthetase 1-like 1							208.0	211.0	210.0					7																	18066490		2187	4296	6483	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066490C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.916G>A	7.37:g.18066490C>T	ENSP00000424595:p.Gly306Arg						p.G306R	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	996	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		306					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.916G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129937	0.77549	.	.	ENSG00000229937	ENST00000506618	D	0.91464	-2.85	4.66	4.66	0.58398	.	.	.	.	.	D	0.94778	0.8314	M	0.82923	2.615	.	.	.	D	0.65815	0.995	P	0.62491	0.903	D	0.95687	0.8737	8	0.72032	D	0.01	.	15.4419	0.75190	0.0:1.0:0.0:0.0	.	306	P21108	PRPS3_HUMAN	R	306	ENSP00000424595:G306R	ENSP00000424595:G306R	G	-	1	0	PRPS1L1	18033015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.058000	0.76676	2.600000	0.87896	0.650000	0.86243	GGG		0.343	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		75	181	0	0	0	1	0	75	181				
UTS2R	2837	broad.mit.edu	37	17	80332634	80332634	+	Missense_Mutation	SNP	G	G	A	rs201620168		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:80332634G>A	ENST00000313135.2	+	1	482	c.434G>A	c.(433-435)aGc>aAc	p.S145N		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	145					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			ACCGTCATGAGCAGCGAGCGC	0.687																																						ENST00000313135.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(433-435)aGc>aAc		urotensin 2 receptor		G	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	35.0	29.0	31.0		434	4.9	1.0	17		31	0,8598		0,0,4299	no	missense	UTS2R	NM_018949.1	46	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	145/390	80332634	1,13003	2203	4299	6502	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332634G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.434G>A	17.37:g.80332634G>A	ENSP00000323516:p.Ser145Asn						p.S145N	NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	482	+	Breast(20;0.00106)|all_neural(118;0.0804)		145					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.434G>A	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247153	0.95305	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.81330	-1.48	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.92341	0.7570	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94358	0.7585	10	0.87932	D	0	.	17.371	0.87377	0.0:0.0:1.0:0.0	.	145	Q9UKP6	UR2R_HUMAN	N	145	ENSP00000323516:S145N	ENSP00000323516:S145N	S	+	2	0	UTS2R	77925923	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.183000	0.94887	2.388000	0.81334	0.551000	0.68910	AGC		0.687	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		10	13	0	0	0	1	0	10	13				
COL16A1	1307	broad.mit.edu	37	1	32164198	32164198	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:32164198G>A	ENST00000373672.3	-	5	792	c.276C>T	c.(274-276)ttC>ttT	p.F92F	COL16A1_ENST00000271069.6_Silent_p.F92F|COL16A1_ENST00000373668.3_Silent_p.F92F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	92	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GACCCCGAGGGAATACTCTTC	0.572																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(274-276)ttC>ttT		collagen, type XVI, alpha 1							63.0	65.0	64.0					1																	32164198		1960	4146	6106	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32164198G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.276C>T	1.37:g.32164198G>A						COL16A1_ENST00000271069.6_Silent_p.F92F|COL16A1_ENST00000373668.3_Silent_p.F92F	p.F92F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	5	792	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	92			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.276C>T	CCDS41297.1																																																																																				0.572	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		23	24	0	0	0	1	0	23	24				
BAD	572	broad.mit.edu	37	11	64037640	64037640	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:64037640G>A	ENST00000394532.3	-	0	818				BAD_ENST00000309032.3_3'UTR|BAD_ENST00000544785.1_Silent_p.A119A	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGCTGCCCAGGGCAGTGGGAA	0.597																																						ENST00000544785.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(355-357)gcC>gcT		BCL2-associated agonist of cell death							44.0	43.0	44.0					11																	64037640		2201	4297	6498	SO:0001624	3_prime_UTR_variant	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037640G>A	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.*41C>T	11.37:g.64037640G>A						BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR	p.A119A			Q92934	BAD_HUMAN			2	357	-			0					O14803|Q6FH21	Silent	SNP	ENST00000394532.3	37	c.357C>T	CCDS8065.1																																																																																				0.597	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		14	15	0	0	0	1	0	14	15				
TMC2	117532	broad.mit.edu	37	20	2542542	2542542	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2542542C>T	ENST00000358864.1	+	4	455	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	147	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTGGGGAGTCCCTGTCCGAG	0.612																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(439-441)tCc>tTc		transmembrane channel-like 2							77.0	70.0	72.0					20																	2542542		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2542542C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.440C>T	20.37:g.2542542C>T	ENSP00000351732:p.Ser147Phe						p.S147F	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			4	455	+			147			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.440C>T	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491639	0.44249	.	.	ENSG00000149488	ENST00000358864	T	0.54866	0.55	4.66	3.71	0.42584	.	0.270286	0.36703	N	0.002452	T	0.59459	0.2195	M	0.73962	2.25	0.44247	D	0.997092	P;P	0.41313	0.739;0.745	P;P	0.46758	0.452;0.526	T	0.64411	-0.6414	10	0.72032	D	0.01	-6.1432	10.9262	0.47191	0.1873:0.8127:0.0:0.0	.	147;147	Q8TDI7-3;Q8TDI7	.;TMC2_HUMAN	F	147	ENSP00000351732:S147F	ENSP00000351732:S147F	S	+	2	0	TMC2	2490542	0.993000	0.37304	0.958000	0.39756	0.950000	0.60333	3.132000	0.50523	1.260000	0.44134	0.563000	0.77884	TCC		0.612	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			29	48	0	0	0	1	0	29	48				
MAGEA5	4104	broad.mit.edu	37	X	151283787	151283787	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:151283787C>T	ENST00000509345.2	-	0	549																		p.D76N(1)									AGAGTGAAATCGATGGCAGTG	0.612																																						ENST00000509345.2																			1	Substitution - Missense(1)	p.D76N(1)	large_intestine(1)																	79.0	75.0	77.0					X																	151283787		2203	4300	6503			4104							g.chrX:151283787C>T																													X.37:g.151283787C>T														0	549	-									RNA	SNP	ENST00000509345.2	37																																																																																						0.612	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			45	90	0	0	0	1	0	45	90				
PAOX	196743	broad.mit.edu	37	10	135195063	135195063	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:135195063C>T	ENST00000278060.5	+	3	851	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PAOX_ENST00000357296.3_Silent_p.F256F|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Silent_p.F256F	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	394					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGGTCCTTCCAGGAGGCAG	0.587																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(766-768)ttC>ttT		polyamine oxidase (exo-N4-amino)							76.0	69.0	72.0					10																	135195063		2202	4300	6502	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135195063C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.768C>T	10.37:g.135195063C>T						PAOX_ENST00000480071.2_Silent_p.F256F|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.F256F|PAOX_ENST00000368539.4_3'UTR	p.F256F	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	851	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	394					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.768C>T	CCDS7683.1																																																																																				0.587	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		24	36	0	0	0	1	0	24	36				
TRAV8-1	28685	broad.mit.edu	37	14	22265623	22265623	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22265623G>A	ENST00000390430.2	+	0	165									T cell receptor alpha variable 8-1																		TGCTGGGGATGATTTTTGCCC	0.438																																						ENST00000390430.2																			0																				93.0	91.0	91.0					14																	22265623		1899	4123	6022			28685							g.chr14:22265623G>A	AE000659		14q11.2	2012-02-07			ENSG00000211782	ENSG00000211782		"""T cell receptors / TRA locus"""	12146	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168986		14.37:g.22265623G>A														0	165	+									RNA	SNP	ENST00000390430.2	37																																																																																						0.438	TRAV8-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401884.1	NG_001332		7	19	0	0	0	1	0	7	19				
SIPA1L2	57568	broad.mit.edu	37	1	232601075	232601075	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:232601075C>A	ENST00000366630.1	-	8	2689	c.2331G>T	c.(2329-2331)cgG>cgT	p.R777R	SIPA1L2_ENST00000262861.4_Silent_p.R777R|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	777	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAAGGAAGTCCCGGAACACGG	0.453																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2329-2331)cgG>cgT		signal-induced proliferation-associated 1 like 2							81.0	83.0	82.0					1																	232601075		1942	4176	6118	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601075C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2331G>T	1.37:g.232601075C>A						SIPA1L2_ENST00000262861.4_Silent_p.R777R	p.R777R			Q9P2F8	SI1L2_HUMAN			8	2689	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	777			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2331G>T	CCDS41474.1																																																																																				0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		77	25	1	0	5.82419e-33	1	5.95976e-33	77	25				
PDE1A	5136	broad.mit.edu	37	2	183099206	183099206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:183099206G>A	ENST00000410103.1	-	5	501	c.418C>T	c.(418-420)Cat>Tat	p.H140Y	PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000435564.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	140					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCAACCATATGATATGTTTTT	0.264																																						ENST00000435564.1																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.(418-420)Cat>Tat		phosphodiesterase 1A, calmodulin-dependent							72.0	71.0	71.0					2																	183099206		2203	4298	6501	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183099206G>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.418C>T	2.37:g.183099206G>A	ENSP00000387037:p.His140Tyr					PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y	p.H140Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		4	618	-			140					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.418C>T	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480902	0.26598	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.70399	-0.48;-0.47;-0.46;-0.46;-0.48;-0.47;-0.48;-0.48;-0.48	5.15	2.61	0.31194	.	0.355668	0.31884	N	0.006916	T	0.48660	0.1512	N	0.08118	0	0.24893	N	0.992152	B;P;B;P;B	0.43788	0.017;0.817;0.017;0.714;0.029	B;B;B;B;B	0.42692	0.012;0.395;0.012;0.395;0.028	T	0.42949	-0.9421	10	0.54805	T	0.06	.	6.3011	0.21113	0.1096:0.0:0.4904:0.4	.	36;106;140;124;140	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	Y	140;106;36;124;140;124;140;140;140	ENSP00000410309:H140Y;ENSP00000329112:H106Y;ENSP00000439938:H36Y;ENSP00000386767:H124Y;ENSP00000331574:H140Y;ENSP00000309269:H124Y;ENSP00000387037:H140Y;ENSP00000350858:H140Y;ENSP00000408874:H140Y	ENSP00000331574:H140Y	H	-	1	0	PDE1A	182807451	1.000000	0.71417	0.049000	0.19019	0.326000	0.28443	4.103000	0.57783	0.483000	0.27608	0.650000	0.86243	CAT		0.264	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			51	57	0	0	0	1	0	51	57				
ZNF687	57592	broad.mit.edu	37	1	151259471	151259471	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:151259471C>T	ENST00000368879.2	+	2	802	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	235	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTCCTAGCCCAACAAGGC	0.642																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(703-705)gCc>gTc		zinc finger protein 687							66.0	73.0	71.0					1																	151259471		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259471C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.704C>T	1.37:g.151259471C>T	ENSP00000357874:p.Ala235Val						p.A235V	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	802	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		235			Pro-rich.		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.704C>T		.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700471	0.03279	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00840	5.63;5.63;5.96	4.19	0.964	0.19655	.	0.507764	0.14741	N	0.301182	T	0.00210	0.0006	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.002	T	0.35624	-0.9781	9	.	.	.	.	2.383	0.04358	0.1548:0.5155:0.1508:0.179	.	235;235;235	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	V	235	ENSP00000336620:A235V;ENSP00000319829:A235V;ENSP00000357874:A235V	.	A	+	2	0	ZNF687	149526095	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.072000	0.11486	0.393000	0.25203	0.462000	0.41574	GCC		0.642	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		20	75	0	0	0	1	0	20	75				
JAK3	3718	broad.mit.edu	37	19	17950353	17950353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17950353C>T	ENST00000527670.1	-	9	1403	c.1374G>A	c.(1372-1374)tgG>tgA	p.W458*	JAK3_ENST00000458235.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000534444.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	458	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCCCCCCATCCCAGCAGGTTG	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1372-1374)tgG>tgA		Janus kinase 3							37.0	30.0	32.0					19																	17950353		2202	4300	6502	SO:0001587	stop_gained	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950353C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1374G>A	19.37:g.17950353C>T	ENSP00000432511:p.Trp458*					JAK3_ENST00000527670.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000534444.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000526008.1_5'UTR	p.W458*	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1473	-			458			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Nonsense_Mutation	SNP	ENST00000527670.1	37	c.1374G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141772	0.57044	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	.	.	.	3.7	2.62	0.31277	.	0.307903	0.32218	N	0.006416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.7306	8.7247	0.34463	0.0:0.7663:0.2337:0.0	.	.	.	.	X	458	.	ENSP00000413248:W458X	W	-	3	0	JAK3	17811353	0.748000	0.28294	0.352000	0.25734	0.090000	0.18270	1.850000	0.39328	0.730000	0.32425	0.455000	0.32223	TGG		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		3	7	0	0	0	1	0	3	7				
PHYKPL	85007	broad.mit.edu	37	5	177637261	177637261	+	Intron	SNP	G	G	A	rs369576001		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:177637261G>A	ENST00000308158.5	-	13	1619				PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000355836.5_Intron|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G301S|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000515193.1_Intron|HNRNPAB_ENST00000506259.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G306S|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.G306S	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CTACGGCCCCGGCTACGACTA	0.642																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(916-918)Ggc>Agc		heterogeneous nuclear ribonucleoprotein A/B		G	SER/GLY,,	0,4406		0,0,2203	38.0	41.0	40.0		916,,	6.0	1.0	5		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,intron	HNRNPAB,AGXT2L2	NM_031266.2,NM_004499.3,NM_153373.2	56,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,	306/333,,	177637261	1,13005	2203	4300	6503	SO:0001627	intron_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177637261G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-1345C>T	5.37:g.177637261G>A						HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G301S|HNRNPAB_ENST00000506259.1_Intron|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G306S|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000355836.5_Intron|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000515193.1_Intron	p.G306S	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			7	1173	+			306			Gly-rich.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.916G>A	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639356	0.47153	0.0	1.16E-4	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000504898	D;D;D	0.88741	-2.42;-2.42;-2.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.92424	0.7595	M	0.73962	2.25	0.80722	D	1	D	0.61697	0.99	P	0.53649	0.731	D	0.92132	0.5713	10	0.51188	T	0.08	.	17.9177	0.88957	0.0:0.0:1.0:0.0	.	306	Q99729-2	.	S	306;301;306	ENSP00000351108:G306S;ENSP00000422501:G301S;ENSP00000425031:G306S	ENSP00000351108:G306S	G	+	1	0	HNRNPAB	177569867	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	8.491000	0.90468	2.828000	0.97474	0.655000	0.94253	GGC		0.642	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		19	30	0	0	0	1	0	19	30				
PSME4	23198	broad.mit.edu	37	2	54175661	54175661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:54175661G>A	ENST00000404125.1	-	3	452	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTCTTGAAAGAAGTTCCTTT	0.348																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(397-399)Ctt>Ttt		proteasome (prosome, macropain) activator subunit 4							99.0	109.0	106.0					2																	54175661		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54175661G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.397C>T	2.37:g.54175661G>A	ENSP00000384211:p.Leu133Phe					PSME4_ENST00000421748.2_Intron	p.L133F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		3	452	-			133					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.397C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023525	0.93462	.	.	ENSG00000068878	ENST00000404125	T	0.06218	3.33	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.00670	-1.1617	10	0.51188	T	0.08	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	133	Q14997	PSME4_HUMAN	F	133	ENSP00000384211:L133F	ENSP00000374643:L133F	L	-	1	0	PSME4	54029165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.783000	0.95769	0.655000	0.94253	CTT		0.348	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		32	84	0	0	0	1	0	32	84				
SRPRB	58477	broad.mit.edu	37	3	133538558	133538558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:133538558T>C	ENST00000466490.2	+	8	1049	c.764T>C	c.(763-765)gTg>gCg	p.V255A		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	255					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)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGAGGGGACGTGGGCTCTGCT	0.527																																						ENST00000466490.2																			0				breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(763-765)gTg>gCg		signal recognition particle receptor, B subunit							60.0	64.0	63.0					3																	133538558		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133538558T>C	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.764T>C	3.37:g.133538558T>C	ENSP00000418401:p.Val255Ala						p.V255A	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			8	1049	+			255					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.764T>C	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	1.530	-0.544548	0.04024	.	.	ENSG00000144867	ENST00000466490	T	0.12984	2.63	5.83	1.44	0.22558	.	1.562160	0.04195	N	0.328981	T	0.07143	0.0181	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34403	-0.9830	10	0.10902	T	0.67	2.2159	2.2418	0.04022	0.3134:0.3535:0.2367:0.0964	.	255	Q9Y5M8	SRPRB_HUMAN	A	255	ENSP00000418401:V255A	ENSP00000418401:V255A	V	+	2	0	SRPRB	135021248	0.002000	0.14202	0.000000	0.03702	0.259000	0.26198	1.929000	0.40114	0.363000	0.24346	-0.137000	0.14449	GTG		0.527	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			16	25	0	0	0	1	0	16	25				
SNTG1	54212	broad.mit.edu	37	8	51617306	51617306	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:51617306G>A	ENST00000522124.1	+	16	1846	c.1185G>A	c.(1183-1185)cgG>cgA	p.R395R	SNTG1_ENST00000517473.1_Silent_p.R395R|SNTG1_ENST00000518864.1_Silent_p.R395R|SNTG1_ENST00000276467.5_Silent_p.R395R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	395					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGTAGAACGGATACAGGTGA	0.493																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1183-1185)cgG>cgA		syntrophin, gamma 1							80.0	66.0	71.0					8																	51617306		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51617306G>A	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1185G>A	8.37:g.51617306G>A						SNTG1_ENST00000517473.1_Silent_p.R395R|SNTG1_ENST00000276467.5_Silent_p.R395R|SNTG1_ENST00000518864.1_Silent_p.R395R	p.R395R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			16	1846	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	395					Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.1185G>A	CCDS6147.1																																																																																				0.493	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			20	24	0	0	0	1	0	20	24				
SLC12A1	6557	broad.mit.edu	37	15	48500321	48500321	+	Silent	SNP	C	C	T	rs182580212	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48500321C>T	ENST00000558405.1	+	1	419	c.405C>T	c.(403-405)caC>caT	p.H135H	SLC12A1_ENST00000380993.3_Silent_p.H135H|SLC12A1_ENST00000561031.1_Silent_p.H135H|SLC12A1_ENST00000396577.3_Silent_p.H135H|SLC12A1_ENST00000330289.6_Silent_p.H135H			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	135					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGAGATTCACGAGCAACTCG	0.468													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19962	0.0		0.0	False		,,,				2504	0.0					ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(403-405)caC>caT		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	C	,	2,4394	4.2+/-10.8	0,2,2196	71.0	70.0	71.0		405,405	-3.5	0.9	15		71	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	SLC12A1	NM_000338.2,NM_001184832.1	,	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	,	135/1100,135/1100	48500321	2,12988	2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500321C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.405C>T	15.37:g.48500321C>T						SLC12A1_ENST00000558405.1_Silent_p.H135H|SLC12A1_ENST00000561031.1_Silent_p.H135H|SLC12A1_ENST00000330289.6_Silent_p.H135H|SLC12A1_ENST00000380993.3_Silent_p.H135H	p.H135H	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	620	+		all_lung(180;0.00219)	135					A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.405C>T	CCDS10129.2																																																																																				0.468	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			37	51	0	0	0	1	0	37	51				
OR4C11	219429	broad.mit.edu	37	11	55371481	55371481	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55371481G>A	ENST00000302231.4	-	1	393	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCTTACAGATGGCCACATAGC	0.458																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(367-369)gcC>gcT		olfactory receptor, family 4, subfamily C, member 11							91.0	76.0	81.0					11																	55371481		2178	4009	6187	SO:0001819	synonymous_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371481G>A	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.369C>T	11.37:g.55371481G>A							p.A123A	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	393	-			123					B9EIL4|Q8NGL8	Silent	SNP	ENST00000302231.4	37	c.369C>T	CCDS31503.1																																																																																				0.458	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		26	36	0	0	0	1	0	26	36				
PMVK	10654	broad.mit.edu	37	1	154898901	154898901	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:154898901G>A	ENST00000368467.3	-	4	676	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	124					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|response to cholesterol (GO:0070723)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|phosphomevalonate kinase activity (GO:0004631)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCGTCACGGCCCCATAGGC	0.612																																						ENST00000368467.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(370-372)gCc>gTc		phosphomevalonate kinase							72.0	57.0	62.0					1																	154898901		2203	4300	6503	SO:0001583	missense	10654				cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding	g.chr1:154898901G>A	L77213	CCDS1073.1	1q21.3	2012-09-20			ENSG00000163344	ENSG00000163344	2.7.4.2		9141	protein-coding gene	gene with protein product		607622				8663599, 10191291	Standard	NM_006556		Approved	PMK, PMKA, HUMPMKI	uc001ffq.3	Q15126	OTTHUMG00000037415	ENST00000368467.3:c.371C>T	1.37:g.154898901G>A	ENSP00000357452:p.Ala124Val						p.A124V	NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	676	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		124					Q5TZW9	Missense_Mutation	SNP	ENST00000368467.3	37	c.371C>T	CCDS1073.1	.	.	.	.	.	.	.	.	.	.	G	7.399	0.632272	0.14322	.	.	ENSG00000163344	ENST00000368467	T	0.42131	0.98	4.59	3.61	0.41365	.	0.711301	0.14221	N	0.333382	T	0.19005	0.0456	L	0.46157	1.445	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.07271	-1.0781	10	0.38643	T	0.18	-0.1014	10.458	0.44561	0.0:0.0:0.8065:0.1935	.	124	Q15126	PMVK_HUMAN	V	124	ENSP00000357452:A124V	ENSP00000357452:A124V	A	-	2	0	PMVK	153165525	0.010000	0.17322	0.205000	0.23548	0.143000	0.21401	1.728000	0.38105	2.266000	0.75297	0.561000	0.74099	GCC		0.612	PMVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091088.1	NM_006556		16	21	0	0	0	1	0	16	21				
TTN	7273	broad.mit.edu	37	2	179598474	179598474	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179598474G>A	ENST00000591111.1	-	51	14915	c.14691C>T	c.(14689-14691)atC>atT	p.I4897I	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I3970I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.I5214I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12289	Ig-like 29.				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)			AGCTCATTTTGATTTTTCCGT	0.453																																						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.(15640-15642)atC>atT		titin							202.0	191.0	195.0					2																	179598474		1904	4138	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598474G>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.14691C>T	2.37:g.179598474G>A						TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000591111.1_Silent_p.I4897I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.I5214I	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)		53	15866	-			4897			Ig-like 32.		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	Silent	SNP	ENST00000591111.1	37	c.15642C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		59	94	0	0	0	1	0	59	94				
VASH1	22846	broad.mit.edu	37	14	77239592	77239592	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77239592C>T	ENST00000167106.4	+	4	1163				VASH1_ENST00000554237.1_Missense_Mutation_p.L190F|RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000556038.1_Intron	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1						angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GTCCGGGcttctctgggcctc	0.577																																						ENST00000554237.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(568-570)Ctc>Ttc		vasohibin 1							33.0	33.0	33.0					14																	77239592		2203	4300	6503	SO:0001627	intron_variant	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77239592C>T	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.530+38C>T	14.37:g.77239592C>T						VASH1_ENST00000167106.4_Intron|VASH1_ENST00000556038.1_Intron	p.L190F			Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	4	1061	+			0					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.568C>T	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	C	7.248	0.602646	0.13939	.	.	ENSG00000071246	ENST00000554237	.	.	.	3.55	-2.54	0.06307	.	.	.	.	.	T	0.22126	0.0533	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22452	-1.0216	6	.	.	.	.	6.4843	0.22079	0.0:0.3676:0.4498:0.1826	.	190	Q7L8A9-2	.	F	190	.	.	L	+	1	0	VASH1	76309345	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.115000	0.10741	-0.725000	0.04901	-0.305000	0.09177	CTC		0.577	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		9	25	0	0	0	1	0	9	25				
SF3A1	10291	broad.mit.edu	37	22	30736230	30736230	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30736230G>A	ENST00000215793.8	-	9	1484	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	SF3A1_ENST00000439242.1_Missense_Mutation_p.R379C	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	444					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CGGATGGAGCGATCCCGCTGC	0.572																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1135-1137)Cgc>Tgc		splicing factor 3a, subunit 1, 120kDa							49.0	48.0	48.0					22																	30736230		2203	4300	6503	SO:0001583	missense	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736230G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1330C>T	22.37:g.30736230G>A	ENSP00000215793:p.Arg444Cys					SF3A1_ENST00000215793.7_Missense_Mutation_p.R444C	p.R379C	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			9	1266	-			444					E9PAW1	Missense_Mutation	SNP	ENST00000215793.8	37	c.1135C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406709	0.83230	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.36340	1.28;1.26	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71560	-0.4556	10	0.87932	D	0	-10.0202	20.6439	0.99570	0.0:0.0:1.0:0.0	.	444	Q15459	SF3A1_HUMAN	C	379;444;341;140	ENSP00000390336:R379C;ENSP00000215793:R444C	ENSP00000215793:R444C	R	-	1	0	SF3A1	29066230	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.845000	0.86875	2.884000	0.98904	0.655000	0.94253	CGC		0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		8	10	0	0	0	1	0	8	10				
ZP2	7783	broad.mit.edu	37	16	21213515	21213515	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21213515T>A	ENST00000574002.1	-	12	1679	c.1197A>T	c.(1195-1197)ggA>ggT	p.G399G	ZP2_ENST00000574091.1_Silent_p.G399G|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.G399G			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	399	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGATGAGTTTCCCACCCTCA	0.527																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(1195-1197)ggA>ggT		zona pellucida glycoprotein 2 (sperm receptor)							84.0	78.0	80.0					16																	21213515		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21213515T>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1197A>T	16.37:g.21213515T>A						ZP2_ENST00000219593.4_Silent_p.G399G|ZP2_ENST00000574091.1_Silent_p.G399G|AF001550.7_ENST00000572747.1_RNA	p.G399G			Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	12	1679	-			399			ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1197A>T	CCDS10596.1																																																																																				0.527	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			19	19	0	0	0	1	0	19	19				
HSPG2	3339	broad.mit.edu	37	1	22206876	22206876	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206876G>A	ENST00000374695.3	-	16	2254	c.2175C>T	c.(2173-2175)gcC>gcT	p.A725A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	725	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCACACTGTGGGCACGGCCAT	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2173-2175)gcC>gcT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						68.0	57.0	61.0					1																	22206876		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22206876G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2175C>T	1.37:g.22206876G>A							p.A725A	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	16	2254	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	725			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.2175C>T	CCDS30625.1																																																																																				0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		17	15	0	0	0	1	0	17	15				
EML1	2009	broad.mit.edu	37	14	100331945	100331945	+	Silent	SNP	C	C	T	rs139395720	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:100331945C>T	ENST00000262233.6	+	3	484	c.345C>T	c.(343-345)tcC>tcT	p.S115S	EML1_ENST00000334192.4_Silent_p.S115S|EML1_ENST00000327921.9_Silent_p.S84S|EML1_ENST00000556758.1_3'UTR	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	115					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCCCCCTCCGGGGTCAGGA	0.493													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17939	0.0		0.0	False		,,,				2504	0.001					ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(343-345)tcC>tcT		echinoderm microtubule associated protein like 1		C	,	11,4395	17.9+/-39.9	0,11,2192	58.0	56.0	57.0		345,345	-10.8	0.0	14	dbSNP_134	57	0,8600		0,0,4300	yes	coding-synonymous,coding-synonymous	EML1	NM_001008707.1,NM_004434.2	,	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	,	115/835,115/816	100331945	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100331945C>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.345C>T	14.37:g.100331945C>T						EML1_ENST00000334192.4_Silent_p.S115S|EML1_ENST00000327921.9_Silent_p.S84S|EML1_ENST00000556758.1_3'UTR	p.S115S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			3	484	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	115					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.345C>T	CCDS32155.1																																																																																				0.493	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		23	17	0	0	0	1	0	23	17				
TCHH	7062	broad.mit.edu	37	1	152079984	152079984	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:152079984G>A	ENST00000368804.1	-	2	5708	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1903					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCTTCTTGGGATTTTATCT	0.577																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5707-5709)tcC>tcT		trichohyalin							143.0	143.0	143.0					1																	152079984		1966	4139	6105	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152079984G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5709C>T	1.37:g.152079984G>A							p.S1903S	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5708	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1903					Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.5709C>T	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		51	49	0	0	0	1	0	51	49				
GCN1L1	10985	broad.mit.edu	37	12	120585975	120585975	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:120585975G>A	ENST00000300648.6	-	37	4734	c.4722C>T	c.(4720-4722)atC>atT	p.I1574I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1574					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTACCCAGGATCTCCGGGT	0.592																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4720-4722)atC>atT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							44.0	48.0	47.0					12																	120585975		1999	4167	6166	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120585975G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4722C>T	12.37:g.120585975G>A							p.I1574I	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			37	4734	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1574					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.4722C>T	CCDS41847.1																																																																																				0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	35	0	0	0	1	0	7	35				
IFNL2	282616	broad.mit.edu	37	19	39760639	39760639	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39760639G>A	ENST00000331982.5	+	6	644	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	197					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGCCAGTGGGGACCTGTGTGT	0.517																																						ENST00000331982.5																			0											c.(589-591)Gac>Aac		interferon, lambda 2							54.0	52.0	53.0					19																	39760639		2203	4300	6503	SO:0001583	missense	282616							g.chr19:39760639G>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.589G>A	19.37:g.39760639G>A	ENSP00000333639:p.Asp197Asn						p.D197N	NM_172138.1	NP_742150.1					6	644	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.589G>A	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	G	9.833	1.188919	0.21954	.	.	ENSG00000183709	ENST00000331982	T	0.34072	1.38	2.91	0.646	0.17789	.	0.779715	0.11610	N	0.546879	T	0.29914	0.0748	M	0.64170	1.965	0.09310	N	1	B	0.29162	0.235	B	0.25405	0.06	T	0.25537	-1.0129	10	0.46703	T	0.11	-2.9492	4.136	0.10170	0.1401:0.2424:0.6176:0.0	.	197	Q8IZJ0	IL28A_HUMAN	N	197	ENSP00000333639:D197N	ENSP00000333639:D197N	D	+	1	0	IL28A	44452479	0.660000	0.27420	0.001000	0.08648	0.003000	0.03518	0.597000	0.24059	0.255000	0.21593	0.585000	0.79938	GAC		0.517	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		3	10	0	0	0	1	0	3	10				
POTEA	340441	broad.mit.edu	37	8	43159892	43159892	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:43159892C>T	ENST00000522175.2	+	0	748				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAAACAACTCTTCTGGAAAT	0.338																																						ENST00000522175.2																			1	Substitution - Missense(1)	p.S295Y(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							82.0	83.0	83.0					8																	43159892		2026	4215	6241			340441							g.chr8:43159892C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43159892C>T										Q6S8J7	POTEA_HUMAN			0	748	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.338	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		41	55	0	0	0	1	0	41	55				
MUC16	94025	broad.mit.edu	37	19	9063304	9063304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9063304C>T	ENST00000397910.4	-	3	24345	c.24142G>A	c.(24142-24144)Gag>Aag	p.E8048K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8050	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTTTTCTCTGTATCTGTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24142-24144)Gag>Aag		mucin 16, cell surface associated							125.0	115.0	118.0					19																	9063304		1967	4170	6137	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063304C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24142G>A	19.37:g.9063304C>T	ENSP00000381008:p.Glu8048Lys						p.E8048K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24345	-			8050			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24142G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	8.401	0.841955	0.16963	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	3.15	-2.45	0.06481	.	.	.	.	.	T	0.29945	0.0749	L	0.59436	1.845	.	.	.	P	0.40834	0.73	B	0.38020	0.263	T	0.38520	-0.9657	8	0.87932	D	0	.	7.3773	0.26835	0.0:0.317:0.5658:0.1172	.	8048	B5ME49	.	K	8048	ENSP00000381008:E8048K	ENSP00000381008:E8048K	E	-	1	0	MUC16	8924304	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.006000	0.13152	-0.276000	0.09206	-0.447000	0.05616	GAG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	23	0	0	0	1	0	26	23				
SCN5A	6331	broad.mit.edu	37	3	38648264	38648264	+	Missense_Mutation	SNP	C	C	T	rs368552426		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38648264C>T	ENST00000333535.4	-	9	1185	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SCN5A_ENST00000413689.1_Missense_Mutation_p.E346K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E346K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E346K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E346K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E346K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E346K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E346K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E346K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E346K			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	346					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGGGGTTCTCGCCTGCCTTT	0.602																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1036-1038)Gag>Aag		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4124		0,0,2062	90.0	111.0	104.0		1036,1036,1036,1036,1036,1036	-1.2	0.2	3		104	1,8411		0,1,4205	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	56,56,56,56,56,56	0,1,6267	TT,TC,CC		0.0119,0.0,0.0080	benign,benign,benign,benign,benign,benign	346/2016,346/2017,346/1999,346/1984,346/1963,346/2017	38648264	1,12535	2062	4206	6268	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38648264C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1036G>A	3.37:g.38648264C>T	ENSP00000328968:p.Glu346Lys					SCN5A_ENST00000414099.2_Missense_Mutation_p.E346K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E346K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E346K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E346K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E346K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E346K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E346K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E346K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E346K	p.E346K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	9	1229	-	Medulloblastoma(35;0.163)		346					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1036G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	7.801	0.713651	0.15306	0.0	1.19E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.73	-1.21	0.09524	Ion transport (1);	0.295842	0.37136	N	0.002224	D	0.93164	0.7823	L	0.27053	0.805	0.21719	N	0.999574	B;B;B;B;P;B	0.34412	0.002;0.133;0.0;0.064;0.453;0.052	B;B;B;B;B;B	0.26693	0.003;0.058;0.002;0.058;0.072;0.035	D	0.87209	0.2246	10	0.37606	T	0.19	.	9.4711	0.38842	0.0:0.305:0.5522:0.1427	.	346;346;346;346;346;346	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	K	346	ENSP00000398962:E346K;ENSP00000398266:E346K;ENSP00000410257:E346K;ENSP00000388797:E346K;ENSP00000397915:E346K;ENSP00000416634:E346K;ENSP00000328968:E346K;ENSP00000399524:E346K;ENSP00000403355:E346K;ENSP00000413996:E346K	ENSP00000328968:E346K	E	-	1	0	SCN5A	38623268	0.000000	0.05858	0.164000	0.22755	0.294000	0.27393	0.007000	0.13174	-0.425000	0.07371	-0.312000	0.09012	GAG		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		28	48	0	0	0	1	0	28	48				
ANKRD33	341405	broad.mit.edu	37	12	52284409	52284409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52284409G>T	ENST00000340970.4	+	5	675	c.304G>T	c.(304-306)Gcc>Tcc	p.A102S	ANKRD33_ENST00000301190.6_Missense_Mutation_p.A227S|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A33S			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	102					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGGCAAGACGGCCCTGGAATG	0.622																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(679-681)Gcc>Tcc		ankyrin repeat domain 33							26.0	26.0	26.0					12																	52284409		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52284409G>T		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.304G>T	12.37:g.52284409G>T	ENSP00000344690:p.Ala102Ser					ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A33S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A102S	p.A227S	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	906	+			102					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.679G>T	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181712	0.57800	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.74526	-0.85;0.93;-0.53	4.91	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.361248	0.29376	N	0.012323	D	0.83751	0.5322	M	0.72576	2.205	0.36249	D	0.853801	D;D;P	0.89917	0.999;1.0;0.873	D;D;B	0.83275	0.996;0.996;0.36	D	0.87335	0.2327	10	0.52906	T	0.07	-3.3959	12.0524	0.53513	0.0:0.0:0.827:0.1729	.	102;33;227	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	S	227;33;102	ENSP00000301190:A227S;ENSP00000443722:A33S;ENSP00000344690:A102S	ENSP00000301190:A227S	A	+	1	0	ANKRD33	50570676	0.425000	0.25498	0.962000	0.40283	0.804000	0.45430	2.154000	0.42291	1.392000	0.46585	0.561000	0.74099	GCC		0.622	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		12	14	1	0	0.0167234	1	0.0167434	12	14				
TLN2	83660	broad.mit.edu	37	15	63068995	63068995	+	Silent	SNP	C	C	T	rs145072613	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:63068995C>T	ENST00000561311.1	+	42	5630	c.5400C>T	c.(5398-5400)gcC>gcT	p.A1800A	TLN2_ENST00000306829.6_Silent_p.A1800A|TLN2_ENST00000472902.1_Silent_p.A193A			Q9Y4G6	TLN2_HUMAN	talin 2	1800					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACAGAGGCCGCCCAGTTGA	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		17714	0.0		0.003	False		,,,				2504	0.0					ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5398-5400)gcC>gcT		talin 2		C		0,4406		0,0,2203	83.0	71.0	75.0		5400	-3.7	1.0	15	dbSNP_134	75	8,8592	5.7+/-21.5	0,8,4292	no	coding-synonymous	TLN2	NM_015059.2		0,8,6495	TT,TC,CC		0.093,0.0,0.0615		1800/2543	63068995	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63068995C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5400C>T	15.37:g.63068995C>T						TLN2_ENST00000472902.1_Silent_p.A193A|TLN2_ENST00000306829.6_Silent_p.A1800A	p.A1800A			Q9Y4G6	TLN2_HUMAN			42	5630	+			1800					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5400C>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	30	0	0	0	1	0	8	30				
CUX1	1523	broad.mit.edu	37	7	101845342	101845342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:101845342C>T	ENST00000292535.7	+	18	2803	c.2765C>T	c.(2764-2766)cCc>cTc	p.P922L	CUX1_ENST00000360264.3_Missense_Mutation_p.P933L|CUX1_ENST00000549414.2_Missense_Mutation_p.P900L|CUX1_ENST00000550008.2_Missense_Mutation_p.P866L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P820L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P764L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	922					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGTCCAAGCCCACCAAGCCC	0.637																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2797-2799)cCc>cTc		cut-like homeobox 1							125.0	122.0	123.0					7																	101845342		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845342C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2765C>T	7.37:g.101845342C>T	ENSP00000292535:p.Pro922Leu					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P866L|CUX1_ENST00000292535.7_Missense_Mutation_p.P922L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P900L|CUX1_ENST00000546411.2_Missense_Mutation_p.P820L|CUX1_ENST00000556210.1_Missense_Mutation_p.P764L	p.P933L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2818	+			922					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2798C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896918	0.52121	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62364	0.05;0.04;0.04;0.03;0.05;0.03	5.29	5.29	0.74685	.	0.140530	0.48286	D	0.000187	T	0.62768	0.2455	L	0.60455	1.87	0.80722	D	1	B;P	0.36909	0.437;0.573	B;B	0.36666	0.115;0.23	T	0.67534	-0.5646	10	0.66056	D	0.02	-16.2183	18.9374	0.92590	0.0:1.0:0.0:0.0	.	922;933	P39880;P39880-3	CUX1_HUMAN;.	L	933;922;900;866;820;764	ENSP00000353401:P933L;ENSP00000292535:P922L;ENSP00000446630:P900L;ENSP00000447373:P866L;ENSP00000450125:P820L;ENSP00000451558:P764L	ENSP00000292535:P922L	P	+	2	0	CUX1	101632062	1.000000	0.71417	0.981000	0.43875	0.634000	0.38068	4.588000	0.60999	2.483000	0.83821	0.655000	0.94253	CCC		0.637	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		40	91	0	0	0	1	0	40	91				
CACUL1	143384	broad.mit.edu	37	10	120450799	120450799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:120450799G>A	ENST00000369151.3	-	7	1486	c.1003C>T	c.(1003-1005)Ctt>Ttt	p.L335F	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	335					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										TTCTGTATAAGTTCTCTTTGA	0.383																																						ENST00000369151.3																			0											c.(1003-1005)Ctt>Ttt		CDK2-associated, cullin domain 1							135.0	138.0	137.0					10																	120450799		1819	4084	5903	SO:0001583	missense	143384							g.chr10:120450799G>A	AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.1003C>T	10.37:g.120450799G>A	ENSP00000358147:p.Leu335Phe					CACUL1_ENST00000544392.1_5'UTR	p.L335F	NM_153810.4	NP_722517.3					7	1486	-								Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	ENST00000369151.3	37	c.1003C>T	CCDS41570.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124256	0.94429	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72080	-0.4398	9	0.51188	T	0.08	-4.4185	20.4324	0.99085	0.0:0.0:1.0:0.0	.	335	Q86Y37	CJ046_HUMAN	F	146;212;335	.	ENSP00000358147:L335F	L	-	1	0	C10orf46	120440789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.519000	0.90563	2.833000	0.97629	0.585000	0.79938	CTT		0.383	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050612.2	NM_153810		73	87	0	0	0	1	0	73	87				
ZNF439	90594	broad.mit.edu	37	19	11978939	11978939	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11978939G>A	ENST00000304030.2	+	3	1255	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.R216K	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	352					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCTGGAGAAAGACCTTATGAA	0.373																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(1054-1056)aGa>aAa		zinc finger protein 439							86.0	87.0	86.0					19																	11978939		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978939G>A	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1055G>A	19.37:g.11978939G>A	ENSP00000305077:p.Arg352Lys					ZNF439_ENST00000455282.1_Missense_Mutation_p.R216K|ZNF439_ENST00000592534.1_Intron	p.R352K	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	1255	+			352					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.1055G>A	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.512019	0.00984	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.12361	2.69;2.69	0.575	-1.0	0.10196	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04679	0.0127	N	0.05554	-0.025	0.09310	N	0.999991	B	0.13594	0.008	B	0.17098	0.017	T	0.42699	-0.9436	9	0.02654	T	1	.	4.8475	0.13521	0.6593:0.0:0.3407:0.0	.	352	Q8NDP4	ZN439_HUMAN	K	216;352	ENSP00000395632:R216K;ENSP00000305077:R352K	ENSP00000305077:R352K	R	+	2	0	ZNF439	11839939	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-0.106000	0.10890	-0.341000	0.08376	0.194000	0.17425	AGA		0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			6	59	0	0	0	1	0	6	59				
COL22A1	169044	broad.mit.edu	37	8	139611073	139611073	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:139611073G>A	ENST00000303045.6	-	61	4700	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	COL22A1_ENST00000435777.1_Silent_p.I1398I|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1418	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGGCCTGGGATTCCAGGGT	0.592										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4252-4254)atC>atT		collagen, type XXII, alpha 1							61.0	58.0	59.0					8																	139611073		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139611073G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4254C>T	8.37:g.139611073G>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.I1398I|COL22A1_ENST00000341807.4_5'UTR	p.I1418I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4700	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1418			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.4254C>T	CCDS6376.1																																																																																				0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		26	46	0	0	0	1	0	26	46				
DUSP27	92235	broad.mit.edu	37	1	167096524	167096524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167096524C>T	ENST00000361200.2	+	6	2322	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S719F|DUSP27_ENST00000271385.5_Missense_Mutation_p.S719F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	719					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACACCATTTCCATTGCCAGT	0.547																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2155-2157)tCc>tTc		dual specificity phosphatase 27 (putative)							79.0	75.0	76.0					1																	167096524		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096524C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2156C>T	1.37:g.167096524C>T	ENSP00000354483:p.Ser719Phe					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S719F|DUSP27_ENST00000443333.1_Missense_Mutation_p.S719F	p.S719F			Q5VZP5	DUS27_HUMAN			6	2322	+			719					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2156C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668367	0.47677	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04502	3.61;3.61;3.61	4.68	4.68	0.58851	.	1.330770	0.04992	N	0.467505	T	0.08670	0.0215	M	0.67953	2.075	0.39200	D	0.963124	P	0.50710	0.938	P	0.47470	0.548	T	0.25222	-1.0138	10	0.87932	D	0	-14.3499	17.7941	0.88564	0.0:1.0:0.0:0.0	.	719	Q5VZP5	DUS27_HUMAN	F	719	ENSP00000354483:S719F;ENSP00000271385:S719F;ENSP00000404874:S719F	ENSP00000271385:S719F	S	+	2	0	DUSP27	165363148	1.000000	0.71417	0.999000	0.59377	0.728000	0.41692	4.096000	0.57734	2.418000	0.82041	0.643000	0.83706	TCC		0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		15	30	0	0	0	1	0	15	30				
TTN	7273	broad.mit.edu	37	2	179413404	179413404	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179413404C>T	ENST00000591111.1	-	289	88250	c.88026G>A	c.(88024-88026)gtG>gtA	p.V29342V	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V22110V|TTN_ENST00000342992.6_Silent_p.V28415V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Silent_p.V30983V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.V22043V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.V21918V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29342	Ig-like 134.				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)			TGCAGTTTTCCACAGTGAGGG	0.453																																						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.(92947-92949)gtG>gtA		titin							139.0	131.0	134.0					2																	179413404		1933	4140	6073	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413404C>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.88026G>A	2.37:g.179413404C>T						TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.V28415V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.V29342V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V22043V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V22110V|TTN_ENST00000460472.2_Silent_p.V21918V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.V30983V	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)		339	93173	-			29342			Fibronectin type-III 126.		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	Silent	SNP	ENST00000591111.1	37	c.92949G>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	81	0	0	0	1	0	53	81				
FAT2	2196	broad.mit.edu	37	5	150947317	150947317	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150947317G>A	ENST00000261800.5	-	1	1188	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	392	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATACTGCAGGTTGGGGAAGG	0.498																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(1174-1176)aaC>aaT		FAT atypical cadherin 2							69.0	69.0	69.0					5																	150947317		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947317G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1176C>T	5.37:g.150947317G>A							p.N392N	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1188	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	392			Cadherin 3.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.1176C>T	CCDS4317.1																																																																																				0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	51	0	0	0	1	0	18	51				
RHOXF2	84528	broad.mit.edu	37	X	119293316	119293316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:119293316C>T	ENST00000371388.3	+	2	665	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	159					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						CGAGCAGTTCCCCAGTGAGTT	0.652																																						ENST00000371388.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						c.(475-477)Ccc>Tcc		Rhox homeobox family, member 2							30.0	31.0	30.0					X																	119293316		2198	4294	6492	SO:0001583	missense	84528					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119293316C>T		CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.475C>T	X.37:g.119293316C>T	ENSP00000360441:p.Pro159Ser						p.P159S	NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN			2	665	+			159					Q9BR00	Missense_Mutation	SNP	ENST00000371388.3	37	c.475C>T	CCDS14594.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058547	0.36277	.	.	ENSG00000131721	ENST00000371388	D	0.98649	-5.05	2.07	2.07	0.26955	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.99165	0.9711	H	0.95004	3.61	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95056	0.8191	9	0.87932	D	0	-1.0626	6.9724	0.24656	0.0:1.0:0.0:0.0	.	159	Q9BQY4	RHXF2_HUMAN	S	159	ENSP00000360441:P159S	ENSP00000360441:P159S	P	+	1	0	RHOXF2	119177344	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.818000	0.27295	1.325000	0.45301	0.431000	0.28591	CCC		0.652	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411977.1	NM_032498		15	19	0	0	0	1	0	15	19				
DUOXA2	405753	broad.mit.edu	37	15	45410265	45410265	+	3'UTR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:45410265G>A	ENST00000323030.5	+	0	1406				DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R332C|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C|DUOXA1_ENST00000558996.1_3'UTR	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2						hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCCTGGGGCGATCTGTAAAT	0.552											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267803.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(994-996)Cgc>Tgc		dual oxidase maturation factor 1							14.0	15.0	15.0					15																	45410265		2117	4160	6277	SO:0001624	3_prime_UTR_variant	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410265G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.*158G>A	15.37:g.45410265G>A			OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA2_ENST00000323030.5_3'UTR|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C	p.R332C	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	10	1393	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	0					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.994C>T	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791042	0.31685	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.60424	0.61;0.19	4.18	2.26	0.28386	.	1.320840	0.05329	N	0.527957	T	0.39145	0.1067	N	0.24115	0.695	0.21897	N	0.999484	P;P	0.40931	0.733;0.733	B;B	0.31547	0.132;0.132	T	0.37842	-0.9688	10	0.87932	D	0	2.0324	5.2164	0.15344	0.1044:0.0:0.6946:0.201	.	287;332	B5M0C0;A8K9Q6	.;.	C	332;287	ENSP00000267803:R332C;ENSP00000415512:R287C	ENSP00000267803:R332C	R	-	1	0	DUOXA1	43197557	0.001000	0.12720	0.012000	0.15200	0.001000	0.01503	0.235000	0.17948	0.702000	0.31825	-0.224000	0.12420	CGC		0.552	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		11	18	0	0	0	1	0	11	18				
HSF1	3297	broad.mit.edu	37	8	145535877	145535877	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145535877C>T	ENST00000528838.1	+	9	1249	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Silent_p.S298S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	363					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|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 intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGCCTCCCTCCCCCCCGCCCA	0.701																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(1087-1089)tcC>tcT		heat shock transcription factor 1							11.0	13.0	12.0					8																	145535877		2172	4280	6452	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535877C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.1089C>T	8.37:g.145535877C>T						HSF1_ENST00000400780.4_Silent_p.S298S	p.S363S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		9	1249	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		363					A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.1089C>T	CCDS6419.1																																																																																				0.701	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		8	14	0	0	0	1	0	8	14				
PPIP5K2	23262	broad.mit.edu	37	5	102530646	102530646	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:102530646C>T	ENST00000358359.3	+	30	4048	c.3539C>T	c.(3538-3540)tCt>tTt	p.S1180F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1159F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S1159F	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1180					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAAAAAGTATCTTTAAATACG	0.368																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3475-3477)tCt>tTt		diphosphoinositol pentakisphosphate kinase 2							86.0	76.0	79.0					5																	102530646		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102530646C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3539C>T	5.37:g.102530646C>T	ENSP00000351126:p.Ser1180Phe					PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1159F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1180F	p.S1159F			O43314	VIP2_HUMAN			29	4049	+			1180					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3476C>T		.	.	.	.	.	.	.	.	.	.	C	17.02	3.281079	0.59758	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000509597	T;T;T;T	0.26373	2.38;2.41;2.38;1.74	5.68	5.68	0.88126	.	0.147855	0.48286	D	0.000188	T	0.39733	0.1089	L	0.48642	1.525	0.40620	D	0.981755	B;P;B	0.51653	0.236;0.947;0.177	B;P;B	0.55222	0.158;0.771;0.123	T	0.07539	-1.0767	10	0.51188	T	0.08	-7.4955	17.5732	0.87941	0.0:1.0:0.0:0.0	.	1215;1159;1180	E9PGM8;O43314-2;O43314	.;.;VIP2_HUMAN	F	1159;1180;1215;1159;335	ENSP00000313070:S1159F;ENSP00000351126:S1180F;ENSP00000416016:S1159F;ENSP00000424948:S335F	ENSP00000313070:S1159F	S	+	2	0	PPIP5K2	102558545	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	5.243000	0.65395	2.674000	0.91012	0.655000	0.94253	TCT		0.368	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		12	16	0	0	0	1	0	12	16				
LYN	4067	broad.mit.edu	37	8	56912075	56912075	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:56912075G>A	ENST00000519728.1	+	12	1599	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LYN_ENST00000520220.2_Missense_Mutation_p.E414K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCTCCTATACGAAATTGTCAC	0.403																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(1240-1242)Gaa>Aaa		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							123.0	122.0	122.0					8																	56912075		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56912075G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1303G>A	8.37:g.56912075G>A	ENSP00000428924:p.Glu435Lys					LYN_ENST00000519728.1_Missense_Mutation_p.E435K	p.E414K	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		12	1514	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	435			Protein kinase.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.1240G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306420	0.95629	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.94576	-3.46;-3.46	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99793	1.1032	10	0.87932	D	0	.	18.6519	0.91433	0.0:0.0:1.0:0.0	.	505;435	Q6NUK7;P07948	.;LYN_HUMAN	K	435;414	ENSP00000428924:E435K;ENSP00000428424:E414K	ENSP00000428924:E435K	E	+	1	0	LYN	57074629	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.813000	0.99286	2.479000	0.83701	0.655000	0.94253	GAA		0.403	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		28	38	0	0	0	1	0	28	38				
KCNJ16	3773	broad.mit.edu	37	17	68128775	68128775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:68128775C>T	ENST00000589377.1	+	2	710	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R218C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183C	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	183					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCAAACCATTCGTTTCAGCTA	0.463																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(652-654)Cgt>Tgt		potassium inwardly-rectifying channel, subfamily J, member 16							92.0	83.0	86.0					17																	68128775		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128775C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.547C>T	17.37:g.68128775C>T	ENSP00000465967:p.Arg183Cys					KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R183C	p.R218C			Q9NPI9	IRK16_HUMAN			4	1040	+	Breast(10;2.96e-09)		183						Missense_Mutation	SNP	ENST00000589377.1	37	c.652C>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484462	0.44147	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.92048	-2.96;-2.96;-2.96	5.54	5.54	0.83059	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.051336	0.85682	D	0.000000	D	0.94765	0.8310	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.73708	0.745;0.981	D	0.93610	0.6938	9	.	.	.	.	19.4518	0.94871	0.0:1.0:0.0:0.0	.	183;183	A8K434;Q9NPI9	.;IRK16_HUMAN	C	183	ENSP00000283936:R183C;ENSP00000376439:R183C;ENSP00000376438:R183C	.	R	+	1	0	KCNJ16	65640370	1.000000	0.71417	0.286000	0.24833	0.005000	0.04900	5.006000	0.63978	2.764000	0.94973	0.650000	0.86243	CGT		0.463	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		24	64	0	0	0	1	0	24	64				
OTUD6A	139562	broad.mit.edu	37	X	69282986	69282986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69282986G>A	ENST00000338352.2	+	1	646	c.612G>A	c.(610-612)atG>atA	p.M204I		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	204	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						ACGACTTCATGATCTACTGCG	0.622																																						ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(610-612)atG>atA		OTU domain containing 6A							69.0	62.0	64.0					X																	69282986		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69282986G>A	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.612G>A	X.37:g.69282986G>A	ENSP00000339389:p.Met204Ile						p.M204I	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	646	+			204			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.612G>A	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304849	0.23736	.	.	ENSG00000189401	ENST00000338352	T	0.41065	1.01	4.42	-0.533	0.11887	Ovarian tumour, otubain (2);	0.885835	0.09694	N	0.767943	T	0.27629	0.0679	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.17433	0.018	T	0.24799	-1.0150	10	0.49607	T	0.09	.	5.1447	0.14979	0.2666:0.2755:0.4579:0.0	.	204	Q7L8S5	OTU6A_HUMAN	I	204	ENSP00000339389:M204I	ENSP00000339389:M204I	M	+	3	0	OTUD6A	69199711	0.421000	0.25465	0.000000	0.03702	0.000000	0.00434	0.882000	0.28186	-0.253000	0.09514	-0.208000	0.12717	ATG		0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		23	61	0	0	0	1	0	23	61				
AJAP1	55966	broad.mit.edu	37	1	4834619	4834619	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:4834619G>A	ENST00000378191.4	+	5	1676		c.e5+1		AJAP1_ENST00000378190.3_Splice_Site	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1						cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGTTTCACGGTAGGTACCTC	0.537																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.e5+1		adherens junctions associated protein 1							150.0	121.0	129.0					1																	4834619		692	1591	2283	SO:0001630	splice_region_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4834619G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1233+1G>A	1.37:g.4834619G>A						AJAP1_ENST00000378190.3_Splice_Site		NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	5	1676	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)						Q9Y229	Splice_Site	SNP	ENST00000378191.4	37		CCDS54.1																																																																																				0.537	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	Intron	9	32	0	0	0	1	0	9	32				
LRP8	7804	broad.mit.edu	37	1	53724084	53724084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:53724084G>A	ENST00000306052.6	-	14	2217	c.2116C>T	c.(2116-2118)Cct>Tct	p.P706S	LRP8_ENST00000354412.3_Missense_Mutation_p.P577S|LRP8_ENST00000465675.1_Missense_Mutation_p.P259S|LRP8_ENST00000347547.2_Missense_Mutation_p.P536S|LRP8_ENST00000371454.2_Missense_Mutation_p.P706S|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	706					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAGGAGCAGGAAGGCACAGG	0.557																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2116-2118)Cct>Tct		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							140.0	121.0	127.0					1																	53724084		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53724084G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2116C>T	1.37:g.53724084G>A	ENSP00000303634:p.Pro706Ser					LRP8_ENST00000354412.3_Missense_Mutation_p.P577S|LRP8_ENST00000371454.2_Missense_Mutation_p.P706S|LRP8_ENST00000465675.1_Missense_Mutation_p.P259S|LRP8_ENST00000347547.2_Missense_Mutation_p.P536S|LRP8_ENST00000460214.1_5'UTR	p.P706S	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			14	2217	-			706					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.2116C>T	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188261	0.78789	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.35	5.35	0.76521	Growth factor, receptor (1);Epidermal growth factor-like (1);	.	.	.	.	D	0.91774	0.7398	M	0.81112	2.525	0.44816	D	0.997826	D;D;D;D;D;D	0.89917	1.0;1.0;0.982;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.949;0.999;0.958;0.981;0.98;0.966	D	0.92642	0.6125	9	0.87932	D	0	.	19.0618	0.93096	0.0:0.0:1.0:0.0	.	259;577;536;706;706;259	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	S	706;706;259;577;536	ENSP00000303634:P706S;ENSP00000360509:P706S;ENSP00000437009:P259S;ENSP00000346391:P577S;ENSP00000334522:P536S	ENSP00000303634:P706S	P	-	1	0	LRP8	53496672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.158000	0.71851	2.497000	0.84241	0.563000	0.77884	CCT		0.557	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		32	56	0	0	0	1	0	32	56				
EP400	57634	broad.mit.edu	37	12	132549425	132549425	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549425C>T	ENST00000333577.4	+	49	8764	c.8655C>T	c.(8653-8655)gcC>gcT	p.A2885A	EP400_ENST00000389561.2_Silent_p.A2849A|EP400_ENST00000389562.2_Silent_p.A2848A|EP400_ENST00000332482.4_Silent_p.A2812A|EP400_ENST00000330386.6_Silent_p.A2768A			Q96L91	EP400_HUMAN	E1A binding protein p400	2885					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCAGGTGGCCCGGCTCGTAA	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8653-8655)gcC>gcT		E1A binding protein p400							11.0	17.0	15.0					12																	132549425		2175	4282	6457	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132549425C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8655C>T	12.37:g.132549425C>T						EP400_ENST00000389561.2_Silent_p.A2849A|EP400_ENST00000330386.6_Silent_p.A2768A|EP400_ENST00000389562.2_Silent_p.A2848A|EP400_ENST00000332482.4_Silent_p.A2812A	p.A2885A			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	49	8764	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2885					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8655C>T																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	18	0	0	0	1	0	6	18				
KIAA1024	23251	broad.mit.edu	37	15	79749651	79749651	+	Missense_Mutation	SNP	C	C	T	rs371598881		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:79749651C>T	ENST00000305428.3	+	2	1237	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	388						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAATAGAAATCCCTCCGAGGA	0.512																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1162-1164)Ccc>Tcc		KIAA1024							60.0	70.0	67.0					15																	79749651		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749651C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1162C>T	15.37:g.79749651C>T	ENSP00000307461:p.Pro388Ser						p.P388S	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1237	+			388					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1162C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231869	0.39399	.	.	ENSG00000169330	ENST00000305428	T	0.33216	1.42	5.27	5.27	0.74061	.	0.326644	0.30285	N	0.009980	T	0.30885	0.0779	L	0.57536	1.79	0.09310	N	0.999999	B	0.30482	0.281	B	0.22601	0.04	T	0.15665	-1.0429	9	.	.	.	.	17.0486	0.86511	0.0:1.0:0.0:0.0	.	388	Q9UPX6	K1024_HUMAN	S	388	ENSP00000307461:P388S	.	P	+	1	0	KIAA1024	77536706	0.714000	0.27936	0.530000	0.27963	0.922000	0.55478	3.320000	0.51991	2.451000	0.82905	0.591000	0.81541	CCC		0.512	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		30	50	0	0	0	1	0	30	50				
FHOD3	80206	broad.mit.edu	37	18	34340689	34340689	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:34340689C>T	ENST00000359247.4	+	22	3968	c.3968C>T	c.(3967-3969)tCc>tTc	p.S1323F	FHOD3_ENST00000592128.1_Missense_Mutation_p.S319F|FHOD3_ENST00000591635.1_Missense_Mutation_p.S536F|FHOD3_ENST00000590592.1_Missense_Mutation_p.S1523F|FHOD3_ENST00000257209.4_Missense_Mutation_p.S1340F|FHOD3_ENST00000445677.1_Missense_Mutation_p.S1302F	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1323					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCGTCCCCCTCCGTGGAGGAC	0.672																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(4018-4020)tCc>tTc		formin homology 2 domain containing 3							32.0	30.0	31.0					18																	34340689		2203	4299	6502	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34340689C>T	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3968C>T	18.37:g.34340689C>T	ENSP00000352186:p.Ser1323Phe					FHOD3_ENST00000359247.4_Missense_Mutation_p.S1323F|FHOD3_ENST00000591635.1_Missense_Mutation_p.S536F|FHOD3_ENST00000445677.1_Missense_Mutation_p.S1302F|FHOD3_ENST00000592128.1_Missense_Mutation_p.S319F|FHOD3_ENST00000590592.1_Missense_Mutation_p.S1523F	p.S1340F	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			23	4141	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1323					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4019C>T		.	.	.	.	.	.	.	.	.	.	C	10.82	1.458076	0.26161	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.33438	1.42;1.41;1.41	5.04	4.14	0.48551	Actin-binding FH2/DRF autoregulatory (1);	0.564934	0.18788	N	0.131146	T	0.19525	0.0469	L	0.34521	1.04	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.15052	0.001;0.0;0.012	T	0.06588	-1.0818	10	0.28530	T	0.3	.	4.7521	0.13066	0.0:0.5488:0.2545:0.1967	.	1302;1323;1340	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	F	1340;1323;1302	ENSP00000257209:S1340F;ENSP00000352186:S1323F;ENSP00000411430:S1302F	ENSP00000257209:S1340F	S	+	2	0	FHOD3	32594687	0.149000	0.22717	0.005000	0.12908	0.680000	0.39746	3.225000	0.51246	2.345000	0.79718	0.462000	0.41574	TCC		0.672	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		16	24	0	0	0	1	0	16	24				
BEND2	139105	broad.mit.edu	37	X	18183239	18183239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:18183239C>T	ENST00000380033.4	-	14	2422	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	764	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTTCTGACGTCATGTCTAAGG	0.547																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2290-2292)Gac>Aac		BEN domain containing 2							190.0	167.0	175.0					X																	18183239		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183239C>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2290G>A	X.37:g.18183239C>T	ENSP00000369372:p.Asp764Asn						p.D764N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			14	2422	-			764			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2290G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341689	0.11069	.	.	ENSG00000177324	ENST00000380033	T	0.27720	1.65	5.69	-3.29	0.05017	BEN domain (1);	1.330150	0.05170	N	0.499466	T	0.16514	0.0397	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.23547	-1.0185	10	0.35671	T	0.21	-0.0045	7.357	0.26725	0.0:0.4387:0.2923:0.269	.	764	Q8NDZ0	BEND2_HUMAN	N	764	ENSP00000369372:D764N	ENSP00000369372:D764N	D	-	1	0	BEND2	18093160	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.176000	0.16782	-1.492000	0.01838	-2.636000	0.00152	GAC		0.547	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		104	140	0	0	0	1	0	104	140				
TMEM88	92162	broad.mit.edu	37	17	7758820	7758820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7758820G>A	ENST00000301599.6	+	2	278	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	TMEM88_ENST00000574668.1_Intron|CYB5D1_ENST00000570446.1_5'Flank|CYB5D1_ENST00000332439.4_5'Flank|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000570555.1_5'Flank	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	90					multicellular organismal development (GO:0007275)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				CGGTTTCACGGCCCTACTGGT	0.687																																						ENST00000301599.6																			0				lung(1)	1						c.(268-270)Gcc>Acc		transmembrane protein 88							44.0	43.0	43.0					17																	7758820		2203	4297	6500	SO:0001583	missense	92162					integral to membrane		g.chr17:7758820G>A	BC057812	CCDS11121.1	17p13.1	2005-12-13				ENSG00000167874			32371	protein-coding gene	gene with protein product							Standard	NM_203411		Approved	MGC71744, FLJ20025	uc002giy.3	Q6PEY1		ENST00000301599.6:c.268G>A	17.37:g.7758820G>A	ENSP00000301599:p.Ala90Thr					TMEM88_ENST00000574668.1_Intron	p.A90T	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN			2	278	+		all_cancers(10;0.00528)|Prostate(122;0.202)	90						Missense_Mutation	SNP	ENST00000301599.6	37	c.268G>A	CCDS11121.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779688	0.70107	.	.	ENSG00000167874	ENST00000301599	T	0.72835	-0.69	4.9	3.92	0.45320	.	0.109437	0.64402	N	0.000009	T	0.66268	0.2772	L	0.60455	1.87	0.80722	D	1	B	0.14438	0.01	B	0.15052	0.012	T	0.65080	-0.6255	10	0.52906	T	0.07	-10.6501	12.6056	0.56521	0.0833:0.0:0.9167:0.0	.	90	Q6PEY1	TMM88_HUMAN	T	90	ENSP00000301599:A90T	ENSP00000301599:A90T	A	+	1	0	TMEM88	7699545	1.000000	0.71417	0.987000	0.45799	0.681000	0.39784	6.948000	0.75965	1.241000	0.43820	0.462000	0.41574	GCC		0.687	TMEM88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440252.1	NM_203411		22	41	0	0	0	1	0	22	41				
RASEF	158158	broad.mit.edu	37	9	85627420	85627420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:85627420C>T	ENST00000376447.3	-	5	1032	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	258					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGATTGTTCTTCGAGCTGA	0.318																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(772-774)Gaa>Aaa		RAS and EF-hand domain containing							114.0	95.0	102.0					9																	85627420		2200	4298	6498	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85627420C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.772G>A	9.37:g.85627420C>T	ENSP00000365630:p.Glu258Lys						p.E258K	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			5	1032	-			258					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.772G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596431	0.86953	.	.	ENSG00000165105	ENST00000376447	T	0.61980	0.06	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	M	0.67953	2.075	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.74000	-0.3805	10	0.35671	T	0.21	.	17.9314	0.88998	0.0:1.0:0.0:0.0	.	258	Q8IZ41	RASEF_HUMAN	K	258	ENSP00000365630:E258K	ENSP00000365630:E258K	E	-	1	0	RASEF	84817240	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.908000	0.63307	2.589000	0.87451	0.650000	0.86243	GAA		0.318	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		13	2	0	0	0	1	0	13	2				
IQSEC3	440073	broad.mit.edu	37	12	247686	247686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:247686C>T	ENST00000538872.1	+	4	1275	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S83F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S386F|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	386					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGCTCGCCCTCCCTGCCGCCC	0.701																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1156-1158)tCc>tTc		IQ motif and Sec7 domain 3							17.0	17.0	17.0					12																	247686		2190	4294	6484	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247686C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1157C>T	12.37:g.247686C>T	ENSP00000437554:p.Ser386Phe					IQSEC3_ENST00000382841.2_Missense_Mutation_p.S83F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S386F|RP11-598F7.4_ENST00000505893.2_RNA	p.S386F			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1275	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		386					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1157C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	c	14.01	2.408662	0.42715	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.79033	-1.23;-1.23;-1.23	4.71	4.71	0.59529	.	0.106105	0.64402	D	0.000002	D	0.84492	0.5484	M	0.70275	2.135	0.52099	D	0.999945	P;P	0.51933	0.949;0.919	P;P	0.54312	0.694;0.748	D	0.87194	0.2236	10	0.87932	D	0	.	17.6418	0.88138	0.0:1.0:0.0:0.0	.	386;83	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	F	386;386;83	ENSP00000437554:S386F;ENSP00000315662:S386F;ENSP00000372292:S83F	ENSP00000315662:S386F	S	+	2	0	IQSEC3	117947	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	5.758000	0.68776	2.161000	0.67846	0.457000	0.33378	TCC		0.701	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		5	3	0	0	0	1	0	5	3				
IL18RAP	8807	broad.mit.edu	37	2	103068477	103068477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:103068477C>T	ENST00000264260.2	+	12	2225	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P404S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	546	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAATCAGTTCCTCCCAATTC	0.453																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1636-1638)Cct>Tct		interleukin 18 receptor accessory protein							128.0	138.0	135.0					2																	103068477		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068477C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1636C>T	2.37:g.103068477C>T	ENSP00000264260:p.Pro546Ser					IL18RAP_ENST00000409369.1_Missense_Mutation_p.P404S	p.P546S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2225	+			546			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1636C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832901	0.16820	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.06142	3.34;3.34	6.02	2.15	0.27550	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.566741	0.18301	N	0.145438	T	0.02047	0.0064	N	0.03000	-0.44	0.09310	N	0.999997	B	0.14438	0.01	B	0.15052	0.012	T	0.45877	-0.9231	10	0.12430	T	0.62	.	2.6983	0.05141	0.2204:0.4105:0.2361:0.133	.	546	O95256	I18RA_HUMAN	S	546;404	ENSP00000264260:P546S;ENSP00000387201:P404S	ENSP00000264260:P546S	P	+	1	0	IL18RAP	102434909	0.000000	0.05858	0.128000	0.21923	0.847000	0.48162	0.210000	0.17455	0.401000	0.25424	0.650000	0.86243	CCT		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		60	84	0	0	0	1	0	60	84				
COL5A1	1289	broad.mit.edu	37	9	137677851	137677851	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:137677851G>A	ENST00000371817.3	+	31	3017	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	868	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAAAACTCGGAGTCCCAGGG	0.567																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2602-2604)gGa>gAa		collagen, type V, alpha 1							105.0	78.0	87.0					9																	137677851		2201	4299	6500	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137677851G>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2603G>A	9.37:g.137677851G>A	ENSP00000360882:p.Gly868Glu						p.G868E	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	31	3017	+		Myeloproliferative disorder(178;0.0341)	868			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2603G>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.199430	0.79015	.	.	ENSG00000130635	ENST00000371817	D	0.99176	-5.52	4.0	4.0	0.46444	.	0.000000	0.64402	U	0.000001	D	0.99489	0.9818	H	0.96142	3.775	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98089	1.0408	10	0.87932	D	0	.	14.8636	0.70399	0.0:0.0:1.0:0.0	.	868	P20908	CO5A1_HUMAN	E	868	ENSP00000360882:G868E	ENSP00000360882:G868E	G	+	2	0	COL5A1	136817672	1.000000	0.71417	0.960000	0.40013	0.826000	0.46750	8.428000	0.90278	1.775000	0.52247	0.461000	0.40582	GGA		0.567	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		14	5	0	0	0	1	0	14	5				
GLUD2	2747	broad.mit.edu	37	X	120182995	120182995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:120182995C>T	ENST00000328078.1	+	1	1534	c.1457C>T	c.(1456-1458)cCc>cTc	p.P486L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	486					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GGAACTATTCCCATTGTACCC	0.448																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1456-1458)cCc>cTc		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						157.0	130.0	139.0					X																	120182995		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182995C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1457C>T	X.37:g.120182995C>T	ENSP00000327589:p.Pro486Leu						p.P486L	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1534	+			486					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1457C>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	7.557	0.663920	0.14710	.	.	ENSG00000182890	ENST00000328078	D	0.95656	-3.77	2.16	2.16	0.27623	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.052530	0.85682	N	0.000000	D	0.91962	0.7454	L	0.58101	1.795	0.80722	D	1	P	0.34757	0.467	B	0.29353	0.101	D	0.90744	0.4652	10	0.72032	D	0.01	.	9.6952	0.40154	0.0:1.0:0.0:0.0	.	486	P49448	DHE4_HUMAN	L	486	ENSP00000327589:P486L	ENSP00000327589:P486L	P	+	2	0	GLUD2	120010676	1.000000	0.71417	0.010000	0.14722	0.067000	0.16453	4.965000	0.63708	1.148000	0.42385	0.413000	0.27773	CCC		0.448	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		56	85	0	0	0	1	0	56	85				
SPECC1	92521	broad.mit.edu	37	17	20209360	20209360	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:20209360G>A	ENST00000261503.5	+	14	3133	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	SPECC1_ENST00000395527.4_Missense_Mutation_p.E1028K|SPECC1_ENST00000536879.1_Missense_Mutation_p.E368K|SPECC1_ENST00000395530.2_Missense_Mutation_p.E947K|AC004702.2_ENST00000580225.1_lincRNA	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1028	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GTTGGCATTTGAAGCGGCTGA	0.358																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(2839-2841)Gaa>Aaa		sperm antigen with calponin homology and coiled-coil domains 1							158.0	151.0	154.0					17																	20209360		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20209360G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.3082G>A	17.37:g.20209360G>A	ENSP00000261503:p.Glu1028Lys					SPECC1_ENST00000261503.5_Missense_Mutation_p.E1028K|SPECC1_ENST00000536879.1_Missense_Mutation_p.E368K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.E1028K	p.E947K	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	12	3047	+			1028					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.2839G>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587701	0.46110	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;D	0.95690	-3.78;-3.78	4.5	3.43	0.39272	Calponin homology domain (5);	0.197755	0.44097	D	0.000481	D	0.88789	0.6532	N	0.04820	-0.15	0.30579	N	0.762752	B;B;B	0.33171	0.372;0.4;0.045	B;B;B	0.39771	0.309;0.121;0.063	D	0.86406	0.1745	10	0.38643	T	0.18	-15.9041	9.5174	0.39113	0.0:0.2813:0.7187:0.0	.	989;947;1028	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	K	989;1028;368;947	ENSP00000261503:E1028K;ENSP00000438294:E368K	ENSP00000261503:E1028K	E	+	1	0	SPECC1	20149952	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.426000	0.66476	2.227000	0.72691	0.462000	0.41574	GAA		0.358	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		30	46	0	0	0	1	0	30	46				
PCDH11X	27328	broad.mit.edu	37	X	91873700	91873700	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91873700C>T	ENST00000373094.1	+	7	4650	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C	PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1251C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1259C|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1261C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1232C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1269					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGCCCTCCATCGTAGTCAGGC	0.552																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3805-3807)Cgt>Tgt		protocadherin 11 X-linked							227.0	202.0	211.0					X																	91873700		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873700C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3805C>T	X.37:g.91873700C>T	ENSP00000362186:p.Arg1269Cys					PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1259C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1261C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1251C|PCDH11X_ENST00000504220.1_3'UTR	p.R1269C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4650	+			1269					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3805C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	4.743	0.138075	0.09083	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56444	0.49;0.5;0.47;0.48;0.5;0.46	3.85	1.88	0.25563	.	.	.	.	.	T	0.34716	0.0907	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.10296	0.003;0.003;0.003;0.003;0.002	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.21895	-1.0232	9	0.46703	T	0.11	.	7.3756	0.26827	0.0:0.7432:0.0:0.2568	.	1232;1251;1261;1259;1269	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	C	1269;1259;1232;1251;1261;1269;1232	ENSP00000362186:R1269C;ENSP00000362189:R1259C;ENSP00000362180:R1232C;ENSP00000355105:R1251C;ENSP00000384758:R1261C;ENSP00000298274:R1232C	ENSP00000298274:R1232C	R	+	1	0	PCDH11X	91760356	0.000000	0.05858	0.019000	0.16419	0.198000	0.23893	0.113000	0.15499	0.171000	0.19730	0.466000	0.42574	CGT		0.552	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		105	161	0	0	0	1	0	105	161				
AMPH	273	broad.mit.edu	37	7	38462076	38462076	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38462076G>A	ENST00000356264.2	-	16	1432	c.1217C>T	c.(1216-1218)cCc>cTc	p.P406L	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Splice_Site_p.P406L|AMPH_ENST00000325590.5_Splice_Site_p.P406L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	406					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTATCCTGGGGCTGAAAATC	0.348																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.e16-1		amphiphysin							147.0	149.0	149.0					7																	38462076		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38462076G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1216-1C>T	7.37:g.38462076G>A						AMPH_ENST00000325590.5_Splice_Site_p.P406_splice|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Splice_Site_p.P406_splice	p.P406_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			16	1432	-			406					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.1215_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393985	0.25205	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000421537	T;T;T	0.60424	0.21;0.19;0.25	4.98	3.14	0.36123	.	0.636138	0.15715	N	0.248198	T	0.48660	0.1512	L	0.53249	1.67	0.38488	D	0.947898	P;B;B;P	0.39831	0.496;0.082;0.265;0.69	B;B;B;B	0.39706	0.269;0.052;0.072;0.307	T	0.42032	-0.9475	10	0.28530	T	0.3	-10.0111	5.9123	0.19035	0.1639:0.0:0.6802:0.1558	.	494;406;406;336	Q8NFL6;P49418-2;P49418;Q8NFL4	.;.;AMPH_HUMAN;.	L	406;406;406;350;173	ENSP00000317441:P406L;ENSP00000348602:P406L;ENSP00000390734:P406L	ENSP00000317441:P406L	P	-	2	0	AMPH	38428601	1.000000	0.71417	0.998000	0.56505	0.527000	0.34593	2.688000	0.46984	0.772000	0.33382	0.650000	0.86243	CCC		0.348	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Missense_Mutation	54	83	0	0	0	1	0	54	83				
CLGN	1047	broad.mit.edu	37	4	141313408	141313408	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:141313408T>C	ENST00000325617.5	-	13	2056	c.1616A>G	c.(1615-1617)gAa>gGa	p.E539G	CLGN_ENST00000414773.1_Missense_Mutation_p.E539G|CLGN_ENST00000537281.1_Missense_Mutation_p.E539G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	539					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGCTTTTTTTCCTCTTCCAG	0.373																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1615-1617)gAa>gGa		calmegin							239.0	242.0	241.0					4																	141313408		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313408T>C	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1616A>G	4.37:g.141313408T>C	ENSP00000326699:p.Glu539Gly					CLGN_ENST00000537281.1_Missense_Mutation_p.E539G|CLGN_ENST00000414773.1_Missense_Mutation_p.E539G	p.E539G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			13	2056	-	all_hematologic(180;0.162)		539					B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.1616A>G	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601767	0.46423	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.54279	0.58;0.58;0.58	5.93	4.74	0.60224	.	0.753217	0.13464	N	0.385901	T	0.44603	0.1301	L	0.59436	1.845	0.29325	N	0.867102	B	0.30741	0.293	B	0.22386	0.039	T	0.42865	-0.9426	10	0.36615	T	0.2	-17.1334	7.0424	0.25027	0.0:0.0759:0.1486:0.7755	.	539	O14967	CLGN_HUMAN	G	539;539;539;456	ENSP00000326699:E539G;ENSP00000392782:E539G;ENSP00000439381:E539G	ENSP00000326699:E539G	E	-	2	0	CLGN	141532858	0.990000	0.36364	0.959000	0.39883	0.839000	0.47603	1.336000	0.33850	1.059000	0.40554	0.533000	0.62120	GAA		0.373	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		61	73	0	0	0	1	0	61	73				
OR51Q1	390061	broad.mit.edu	37	11	5443499	5443499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5443499G>A	ENST00000300778.4	+	1	159	c.69G>A	c.(67-69)gaG>gaA	p.E23E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATTTGAGGCCTCCCACA	0.507																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(67-69)gaG>gaA		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							297.0	225.0	250.0					11																	5443499		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443499G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.69G>A	11.37:g.5443499G>A						HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.E23E	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	159	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	23					B2RNN1	Silent	SNP	ENST00000300778.4	37	c.69G>A	CCDS31381.1																																																																																				0.507	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		44	87	0	0	0	1	0	44	87				
C1QA	712	broad.mit.edu	37	1	22965568	22965568	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22965568G>A	ENST00000374642.3	+	3	610	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	C1QA_ENST00000402322.1_Missense_Mutation_p.V136I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	136	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCGACACGGTCATCACCAA	0.602																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(406-408)Gtc>Atc		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						71.0	63.0	66.0					1																	22965568		2203	4300	6503	SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965568G>A	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.406G>A	1.37:g.22965568G>A	ENSP00000363773:p.Val136Ile					C1QA_ENST00000402322.1_Missense_Mutation_p.V136I	p.V136I	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	610	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	136			C1q.		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	c.406G>A	CCDS226.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.394220	0.25205	.	.	ENSG00000173372	ENST00000374642;ENST00000438241;ENST00000402322	T;T;T	0.76060	-0.99;-0.99;-0.99	5.67	3.57	0.40892	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.56292	0.1975	L	0.33624	1.015	0.20489	N	0.999892	B	0.10296	0.003	B	0.12837	0.008	T	0.38993	-0.9635	9	0.11182	T	0.66	0.0124	3.2582	0.06839	0.2791:0.2211:0.4998:0.0	.	136	P02745	C1QA_HUMAN	I	136	ENSP00000363773:V136I;ENSP00000416841:V136I;ENSP00000385564:V136I	ENSP00000363773:V136I	V	+	1	0	C1QA	22838155	0.696000	0.27757	0.951000	0.38953	0.694000	0.40290	0.949000	0.29109	1.402000	0.46780	0.561000	0.74099	GTC		0.602	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		10	34	0	0	0	1	0	10	34				
MMP16	4325	broad.mit.edu	37	8	89209496	89209496	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:89209496G>A	ENST00000286614.6	-	2	453	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	58					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GACATTCTGGGGTCAGTCGGT	0.428																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(172-174)Ccc>Tcc		matrix metallopeptidase 16 (membrane-inserted)							91.0	79.0	83.0					8																	89209496		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89209496G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.172C>T	8.37:g.89209496G>A	ENSP00000286614:p.Pro58Ser					MMP16_ENST00000544227.1_5'UTR	p.P58S	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			2	453	-			58					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.172C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	8.649	0.897795	0.17686	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.50548	2.41;0.74	6.07	5.2	0.72013	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.094256	0.85682	N	0.000000	T	0.34803	0.0910	L	0.33093	0.98	0.80722	D	1	B;B	0.25206	0.12;0.011	B;B	0.25506	0.061;0.038	T	0.15954	-1.0419	10	0.05721	T	0.95	.	15.2633	0.73640	0.067:0.0:0.933:0.0	.	58;58	P51512-2;P51512	.;MMP16_HUMAN	S	58;75	ENSP00000286614:P58S;ENSP00000429147:P75S	ENSP00000286614:P58S	P	-	1	0	MMP16	89278612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.732000	0.62029	1.571000	0.49722	0.585000	0.79938	CCC		0.428	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		18	39	0	0	0	1	0	18	39				
CHRM2	1129	broad.mit.edu	37	7	136699661	136699661	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:136699661C>T	ENST00000445907.2	+	3	577	c.49C>T	c.(49-51)Cct>Tct	p.P17S	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.P17S|CHRM2_ENST00000320658.5_Missense_Mutation_p.P17S|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P17S|CHRM2_ENST00000453373.1_Missense_Mutation_p.P17S|CHRM2_ENST00000401861.1_Missense_Mutation_p.P17S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	17					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCTTACAAGTCCTTATAAGAC	0.393																																						ENST00000445907.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(49-51)Cct>Tct		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						104.0	102.0	103.0					7																	136699661		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699661C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.49C>T	7.37:g.136699661C>T	ENSP00000399745:p.Pro17Ser					AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P17S|CHRM2_ENST00000397608.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P17S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P17S	p.P17S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN			3	577	+			17					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.49C>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697276	0.48202	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.33	5.33	0.75918	.	0.055225	0.64402	D	0.000001	T	0.53400	0.1794	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41963	-0.9479	10	0.29301	T	0.29	-11.65	19.0721	0.93143	0.0:1.0:0.0:0.0	.	17	P08172	ACM2_HUMAN	S	17	ENSP00000399745:P17S;ENSP00000415386:P17S;ENSP00000319984:P17S;ENSP00000380733:P17S;ENSP00000384937:P17S;ENSP00000384401:P17S	ENSP00000319984:P17S	P	+	1	0	CHRM2	136350201	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.886000	0.63149	2.502000	0.84385	0.585000	0.79938	CCT		0.393	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			34	47	0	0	0	1	0	34	47				
GREB1	9687	broad.mit.edu	37	2	11716512	11716512	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:11716512A>G	ENST00000381486.2	+	5	788	c.488A>G	c.(487-489)aAa>aGa	p.K163R	GREB1_ENST00000381483.2_Missense_Mutation_p.K163R|GREB1_ENST00000389825.3_Missense_Mutation_p.K53R|GREB1_ENST00000234142.5_Missense_Mutation_p.K163R|GREB1_ENST00000263834.5_Missense_Mutation_p.K163R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	163						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGTGGAAAGAAAGGCTTCTGT	0.383																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(487-489)aAa>aGa		growth regulation by estrogen in breast cancer 1							139.0	146.0	143.0					2																	11716512		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11716512A>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.488A>G	2.37:g.11716512A>G	ENSP00000370896:p.Lys163Arg					GREB1_ENST00000263834.5_Missense_Mutation_p.K163R|GREB1_ENST00000389825.3_Missense_Mutation_p.K53R|GREB1_ENST00000234142.5_Missense_Mutation_p.K163R|GREB1_ENST00000381483.2_Missense_Mutation_p.K163R	p.K163R	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	5	788	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		163					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.488A>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922187	0.33908	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;D;D;D;T	0.83755	2.86;-1.76;-1.76;-1.76;2.86	4.88	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	L	0.33753	1.03	0.58432	D	0.99999	B;P;B;B	0.44309	0.128;0.832;0.008;0.002	B;B;B;B	0.39339	0.069;0.297;0.012;0.002	T	0.60791	-0.7193	10	0.19590	T	0.45	-2.6486	7.4113	0.27019	0.7808:0.1441:0.0751:0.0	.	163;53;163;163	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	R	163;163;53;163;163	ENSP00000370896:K163R;ENSP00000263834:K163R;ENSP00000374475:K53R;ENSP00000370892:K163R;ENSP00000234142:K163R	ENSP00000234142:K163R	K	+	2	0	GREB1	11633963	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	4.214000	0.58527	0.340000	0.23745	0.533000	0.62120	AAA		0.383	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		44	104	0	0	0	1	0	44	104				
KIR3DL3	115653	broad.mit.edu	37	19	55247519	55247519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55247519C>T	ENST00000291860.1	+	8	1207	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000342376.3_5'Flank|KIR2DL3_ENST00000434419.2_5'Flank|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	397						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AATCACTCGCCCTTCTCAGAG	0.507																																						ENST00000291860.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(1189-1191)Cct>Tct		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							32.0	39.0	37.0					19																	55247519		1797	3806	5603	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247519C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1189C>T	19.37:g.55247519C>T	ENSP00000291860:p.Pro397Ser					CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	p.P397S	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1207	+			397					A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.1189C>T	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	c	9.795	1.178888	0.21787	.	.	ENSG00000242019	ENST00000291860	T	0.00538	6.71	0.929	-0.524	0.11920	.	.	.	.	.	T	0.00875	0.0029	M	0.86502	2.82	0.09310	N	1	P	0.39404	0.672	B	0.39904	0.313	T	0.35176	-0.9799	9	0.72032	D	0.01	.	3.676	0.08292	0.5758:0.4242:0.0:0.0	.	397	Q8N743	KI3L3_HUMAN	S	397	ENSP00000291860:P397S	ENSP00000291860:P397S	P	+	1	0	KIR3DL3	59939331	0.000000	0.05858	0.014000	0.15608	0.045000	0.14185	-1.670000	0.01956	-0.200000	0.10300	0.184000	0.17185	CCT		0.507	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		62	18	0	0	0	1	0	62	18				
OR10V1	390201	broad.mit.edu	37	11	59480701	59480701	+	Silent	SNP	G	G	A	rs193071124		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:59480701G>A	ENST00000307552.2	-	1	636	c.618C>T	c.(616-618)atC>atT	p.I206I	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCTAAGGACGATGAAGCTGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		22471	0.001		0.0	False		,,,				2504	0.0					ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(616-618)atC>atT		olfactory receptor, family 10, subfamily V, member 1							111.0	94.0	99.0					11																	59480701		2201	4295	6496	SO:0001819	synonymous_variant	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480701G>A	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.618C>T	11.37:g.59480701G>A							p.I206I	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	636	-			206					Q6IFD9|Q96R50	Silent	SNP	ENST00000307552.2	37	c.618C>T	CCDS31565.1																																																																																				0.512	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		35	58	0	0	0	1	0	35	58				
GPRASP2	114928	broad.mit.edu	37	X	101969893	101969893	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101969893C>T	ENST00000535209.1	+	4	927	c.96C>T	c.(94-96)gtC>gtT	p.V32V	GPRASP2_ENST00000332262.5_Silent_p.V32V|GPRASP2_ENST00000543253.1_Silent_p.V32V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	32						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAATGATGTCCCTCTGGTGG	0.572																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(94-96)gtC>gtT		G protein-coupled receptor associated sorting protein 2							126.0	115.0	119.0					X																	101969893		2203	4300	6503	SO:0001819	synonymous_variant	114928							g.chrX:101969893C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.96C>T	X.37:g.101969893C>T						GPRASP2_ENST00000535209.1_Silent_p.V32V|GPRASP2_ENST00000332262.5_Silent_p.V32V	p.V32V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1015	+								D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.96C>T	CCDS14501.1																																																																																				0.572	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		78	96	0	0	0	1	0	78	96				
PNMA5	114824	broad.mit.edu	37	X	152159281	152159281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152159281G>A	ENST00000439251.1	-	2	1300	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	PNMA5_ENST00000452693.1_Missense_Mutation_p.R288C|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288C|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTCAGACGAATCATGTCT	0.567																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(862-864)Cgt>Tgt		paraneoplastic Ma antigen family member 5							44.0	45.0	44.0					X																	152159281		2203	4299	6502	SO:0001583	missense	114824				apoptosis			g.chrX:152159281G>A	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.862C>T	X.37:g.152159281G>A	ENSP00000388850:p.Arg288Cys					PNMA5_ENST00000452693.1_Missense_Mutation_p.R288C|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288C|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288C	p.R288C	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1300	-	Acute lymphoblastic leukemia(192;6.56e-05)		288					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.862C>T	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	16.74	3.207447	0.58343	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	2.97	2.97	0.34412	.	.	.	.	.	T	0.42517	0.1206	M	0.84683	2.71	0.19575	N	0.999967	D	0.89917	1.0	D	0.79108	0.992	T	0.11542	-1.0583	9	0.87932	D	0	-25.6602	8.6675	0.34130	0.0:0.0:1.0:0.0	.	288	Q96PV4	PNMA5_HUMAN	C	288	ENSP00000354834:R288C;ENSP00000445775:R288C;ENSP00000388850:R288C;ENSP00000392342:R288C	ENSP00000354834:R288C	R	-	1	0	PNMA5	151909937	0.910000	0.30920	0.026000	0.17262	0.162000	0.22319	3.652000	0.54439	1.774000	0.52232	0.287000	0.19450	CGT		0.567	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		55	69	0	0	0	1	0	55	69				
STK36	27148	broad.mit.edu	37	2	219563820	219563820	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219563820C>T	ENST00000295709.3	+	26	3832	c.3553C>T	c.(3553-3555)Cct>Tct	p.P1185S	STK36_ENST00000440309.1_Missense_Mutation_p.P1185S|STK36_ENST00000392106.2_Missense_Mutation_p.P1164S|STK36_ENST00000392105.3_Missense_Mutation_p.P1164S	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.P1185S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCAGGCTGGTCCTCTGGGACC	0.602																																						ENST00000295709.3																			1	Substitution - Missense(1)	p.P1185S(1)	ovary(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(3553-3555)Cct>Tct		serine/threonine kinase 36							44.0	42.0	43.0					2																	219563820		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563820C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3553C>T	2.37:g.219563820C>T	ENSP00000295709:p.Pro1185Ser					STK36_ENST00000392105.3_Missense_Mutation_p.P1164S|STK36_ENST00000392106.2_Missense_Mutation_p.P1164S|STK36_ENST00000440309.1_Missense_Mutation_p.P1185S	p.P1185S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3832	+		Renal(207;0.0915)	1185		P -> S (in an ovarian endometrioid sample; somatic mutation).				Missense_Mutation	SNP	ENST00000295709.3	37	c.3553C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	9.112	1.006929	0.19199	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.62788	0.73;0.73;-0.0;0.73	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.154542	0.30611	N	0.009245	T	0.62804	0.2458	N	0.11427	0.14	0.30461	N	0.774269	D;P;P	0.89917	1.0;0.734;0.473	D;B;B	0.79784	0.993;0.301;0.056	T	0.60835	-0.7184	10	0.24483	T	0.36	-15.5062	17.5023	0.87735	0.0:1.0:0.0:0.0	.	1164;1164;1185	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	S	1185;1164;1164;1185	ENSP00000295709:P1185S;ENSP00000375955:P1164S;ENSP00000375954:P1164S;ENSP00000394095:P1185S	ENSP00000295709:P1185S	P	+	1	0	STK36	219272064	0.222000	0.23652	1.000000	0.80357	0.167000	0.22549	0.615000	0.24329	2.793000	0.96121	0.655000	0.94253	CCT		0.602	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	12	0	0	0	1	0	20	12				
PLXNA2	5362	broad.mit.edu	37	1	208315720	208315720	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:208315720G>A	ENST00000367033.3	-	4	2217	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	487	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGGAGAAGGCCATGTCCCG	0.532																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1459-1461)gCc>gTc		plexin A2							103.0	91.0	95.0					1																	208315720		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208315720G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1460C>T	1.37:g.208315720G>A	ENSP00000356000:p.Ala487Val						p.A487V	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	4	2217	-			487			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1460C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703163	0.30232	.	.	ENSG00000076356	ENST00000367033	T	0.10668	2.85	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.057760	0.64402	D	0.000002	T	0.08537	0.0212	L	0.36672	1.1	0.80722	D	1	B	0.32876	0.388	B	0.18263	0.021	T	0.22591	-1.0212	10	0.11182	T	0.66	.	17.6837	0.88251	0.0:0.0:1.0:0.0	.	487	O75051	PLXA2_HUMAN	V	487	ENSP00000356000:A487V	ENSP00000356000:A487V	A	-	2	0	PLXNA2	206382343	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.899000	0.92544	2.254000	0.74563	0.655000	0.94253	GCC		0.532	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		67	15	0	0	0	1	0	67	15				
OR14A16	284532	broad.mit.edu	37	1	247978452	247978452	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247978452C>T	ENST00000357627.1	-	1	579	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	194						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(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGTGCAATTTCTCTTATTAAA	0.383																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(580-582)Gaa>Aaa		olfactory receptor, family 14, subfamily A, member 16							61.0	63.0	63.0					1																	247978452		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978452C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.580G>A	1.37:g.247978452C>T	ENSP00000350248:p.Glu194Lys						p.E194K	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	579	-			194					Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.580G>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111959	0.37242	.	.	ENSG00000196772	ENST00000357627	T	0.00207	8.55	3.52	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000291	T	0.00300	0.0009	M	0.71581	2.175	0.09310	N	1	B	0.32800	0.385	P	0.46419	0.516	T	0.18587	-1.0332	10	0.46703	T	0.11	.	3.8708	0.09036	0.169:0.571:0.1641:0.0959	.	194	Q8NHC5	O14AG_HUMAN	K	194	ENSP00000350248:E194K	ENSP00000350248:E194K	E	-	1	0	OR14A16	246045075	0.000000	0.05858	0.027000	0.17364	0.026000	0.11368	0.023000	0.13533	0.821000	0.34540	0.596000	0.82720	GAA		0.383	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		44	19	0	0	0	1	0	44	19				
DNAH2	146754	broad.mit.edu	37	17	7667304	7667304	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7667304G>A	ENST00000572933.1	+	19	4594	c.3134G>A	c.(3133-3135)gGg>gAg	p.G1045E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G1045E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1045	Stem. {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)				ATGGCTGCTGGGCGCCTCCTG	0.622																																						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.(3133-3135)gGg>gAg		dynein, axonemal, heavy chain 2							67.0	64.0	65.0					17																	7667304		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667304G>A	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.3134G>A	17.37:g.7667304G>A	ENSP00000458355:p.Gly1045Glu					DNAH2_ENST00000389173.2_Missense_Mutation_p.G1045E	p.G1045E			Q9P225	DYH2_HUMAN			19	4594	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1045			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.3134G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.265232	0.01433	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.41400	1.0	4.37	-0.0576	0.13800	.	1.093020	0.07124	N	0.844389	T	0.23054	0.0557	L	0.33485	1.01	0.09310	N	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.21724	-1.0237	10	0.06236	T	0.91	.	1.0449	0.01568	0.2651:0.2545:0.3386:0.1418	.	1045	Q9P225	DYH2_HUMAN	E	1045	ENSP00000373825:G1045E	ENSP00000353818:G1045E	G	+	2	0	DNAH2	7608029	0.048000	0.20356	0.007000	0.13788	0.794000	0.44872	0.739000	0.26173	-0.131000	0.11578	0.555000	0.69702	GGG		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	48	0	0	0	1	0	26	48				
ZBTB45	84878	broad.mit.edu	37	19	59028821	59028821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59028821C>T	ENST00000594051.1	-	2	700	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V74M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V74M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCGGGCACCACCGGAGGCACA	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(220-222)Gtg>Atg		zinc finger and BTB domain containing 45							47.0	45.0	46.0					19																	59028821		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028821C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.220G>A	19.37:g.59028821C>T	ENSP00000469089:p.Val74Met		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V74M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V74M	p.V74M			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	700	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	74			BTB.			Missense_Mutation	SNP	ENST00000594051.1	37	c.220G>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	16.87	3.242738	0.58995	.	.	ENSG00000119574	ENST00000354590	T	0.67345	-0.26	3.68	3.68	0.42216	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.118452	0.34828	U	0.003648	T	0.72700	0.3493	L	0.37507	1.11	0.37994	D	0.934014	D	0.76494	0.999	D	0.72338	0.977	T	0.78590	-0.2145	10	0.87932	D	0	.	13.2888	0.60258	0.0:1.0:0.0:0.0	.	74	Q96K62	ZBT45_HUMAN	M	74	ENSP00000346603:V74M	ENSP00000346603:V74M	V	-	1	0	ZBTB45	63720633	0.999000	0.42202	0.976000	0.42696	0.529000	0.34654	4.167000	0.58209	1.793000	0.52555	0.305000	0.20034	GTG		0.662	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		26	41	0	0	0	1	0	26	41				
SQLE	6713	broad.mit.edu	37	8	126011789	126011789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:126011789C>T	ENST00000265896.5	+	1	1042	c.144C>T	c.(142-144)caC>caT	p.H48H	RP11-6D1.3_ENST00000523030.1_RNA|SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	48					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	GCTGTCGCCACCGAAACGGGG	0.612																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(142-144)caC>caT		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						43.0	47.0	45.0					8																	126011789		1989	4145	6134	SO:0001819	synonymous_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011789C>T	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.144C>T	8.37:g.126011789C>T						SQLE_ENST00000523430.1_Intron	p.H48H	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1042	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		48					Q9UEK6	Silent	SNP	ENST00000265896.5	37	c.144C>T	CCDS47918.1																																																																																				0.612	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		7	24	0	0	0	1	0	7	24				
BCAT1	586	broad.mit.edu	37	12	24995058	24995058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:24995058C>T	ENST00000261192.7	-	7	1301	c.775G>A	c.(775-777)Gga>Aga	p.G259R	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271R|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198R|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	259					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)	TTCATAGTTCCCACTTCAGTG	0.423																																						ENST00000261192.7																			0				breast(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(775-777)Gga>Aga		branched chain amino-acid transaminase 1, cytosolic	Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)						97.0	95.0	95.0					12																	24995058		1909	4133	6042	SO:0001583	missense	586				branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr12:24995058C>T		CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1	12p12.1	2012-10-02	2010-05-07		ENSG00000060982	ENSG00000060982	2.6.1.42		976	protein-coding gene	gene with protein product		113520	"""branched chain aminotransferase 1, cytosolic"""	BCT1		9165094	Standard	NM_005504		Approved		uc010six.2	P54687	OTTHUMG00000169053	ENST00000261192.7:c.775G>A	12.37:g.24995058C>T	ENSP00000261192:p.Gly259Arg					BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258R|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222R|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198R	p.G259R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN			7	1301	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)		259					B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9	Missense_Mutation	SNP	ENST00000261192.7	37	c.775G>A	CCDS44845.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525478	0.85600	.	.	ENSG00000060982	ENST00000261192;ENST00000538118;ENST00000342945;ENST00000539282;ENST00000539780	T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04	5.48	5.48	0.80851	Aminotransferase, class IV, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	H	0.99719	4.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84898	0.0840	10	0.87932	D	0	-12.4602	19.3713	0.94488	0.0:1.0:0.0:0.0	.	222;271;198;259;258	B7Z5L0;F5H5E4;B3KY27;P54687;Q68DQ7	.;.;.;BCAT1_HUMAN;.	R	259;258;198;271;222	ENSP00000261192:G259R;ENSP00000440817:G258R;ENSP00000339805:G198R;ENSP00000443459:G271R;ENSP00000440827:G222R	ENSP00000261192:G259R	G	-	1	0	BCAT1	24886325	1.000000	0.71417	0.841000	0.33234	0.580000	0.36256	7.420000	0.80191	2.575000	0.86900	0.655000	0.94253	GGA		0.423	BCAT1-001	KNOWN	upstream_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402080.1	NM_005504		5	24	0	0	0	1	0	5	24				
SELE	6401	broad.mit.edu	37	1	169701074	169701074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:169701074G>A	ENST00000333360.7	-	4	570	c.431C>T	c.(430-432)aCc>aTc	p.T144I	SELE_ENST00000367774.1_Missense_Mutation_p.T144I|SELE_ENST00000367775.1_Missense_Mutation_p.T144I|SELE_ENST00000367777.1_Missense_Mutation_p.T144I|SELE_ENST00000367782.4_Missense_Mutation_p.T144I|SELE_ENST00000367780.4_Missense_Mutation_p.T144I|SELE_ENST00000367779.4_Missense_Mutation_p.T144I|SELE_ENST00000367781.4_Missense_Mutation_p.T144I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.T144I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	144	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGATGTATTGGTACAGGCAGC	0.443																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(430-432)aCc>aTc		selectin E							111.0	95.0	100.0					1																	169701074		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169701074G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.431C>T	1.37:g.169701074G>A	ENSP00000331736:p.Thr144Ile					SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367777.1_Missense_Mutation_p.T144I|SELE_ENST00000367780.4_Missense_Mutation_p.T144I|SELE_ENST00000367781.4_Missense_Mutation_p.T144I|SELE_ENST00000367774.1_Missense_Mutation_p.T144I|SELE_ENST00000367776.1_Missense_Mutation_p.T144I|SELE_ENST00000367779.4_Missense_Mutation_p.T144I|SELE_ENST00000367782.4_Missense_Mutation_p.T144I|SELE_ENST00000367775.1_Missense_Mutation_p.T144I|C1orf112_ENST00000498289.1_Intron	p.T144I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			4	570	-	all_hematologic(923;0.208)		144			EGF-like.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.431C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037479	0.54896	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	D;D;D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	5.5	2.28	0.28536	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41823	D	0.000808	D	0.90027	0.6886	L	0.52364	1.645	0.09310	N	1	D	0.67145	0.996	D	0.66497	0.944	T	0.82002	-0.0673	10	0.49607	T	0.09	-15.3294	8.6062	0.33775	0.0:0.1322:0.4914:0.3764	.	144	P16581	LYAM2_HUMAN	I	144	ENSP00000356755:T144I;ENSP00000356756:T144I;ENSP00000356754:T144I;ENSP00000356753:T144I;ENSP00000331736:T144I;ENSP00000356751:T144I;ENSP00000356749:T144I;ENSP00000356750:T144I;ENSP00000356748:T144I	ENSP00000331736:T144I	T	-	2	0	SELE	167967698	0.016000	0.18221	0.274000	0.24659	0.350000	0.29205	1.196000	0.32198	1.321000	0.45227	0.586000	0.80456	ACC		0.443	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		14	20	0	0	0	1	0	14	20				
TFAP2D	83741	broad.mit.edu	37	6	50718994	50718994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:50718994C>T	ENST00000008391.3	+	7	1324	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CAGACCCACTCCAATTCTAGA	0.373																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1096-1098)Cca>Tca		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							107.0	98.0	101.0					6																	50718994		2203	4299	6502	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50718994C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1096C>T	6.37:g.50718994C>T	ENSP00000008391:p.Pro366Ser						p.P366S	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			7	1324	+	Lung NSC(77;0.0334)		366			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1096C>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439872	0.83885	.	.	ENSG00000008197	ENST00000008391	D	0.96885	-4.16	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.62266	1.93	0.80722	D	1	B	0.32862	0.387	P	0.45276	0.475	D	0.96137	0.9097	10	0.66056	D	0.02	-15.0119	19.3519	0.94392	0.0:1.0:0.0:0.0	.	366	Q7Z6R9	AP2D_HUMAN	S	366	ENSP00000008391:P366S	ENSP00000008391:P366S	P	+	1	0	TFAP2D	50826953	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.574000	0.86865	0.484000	0.47621	CCA		0.373	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		5	48	0	0	0	1	0	5	48				
NCOR1	9611	broad.mit.edu	37	17	15938100	15938100	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15938100C>T	ENST00000268712.3	-	45	7371	c.7114G>A	c.(7114-7116)Gaa>Aaa	p.E2372K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E956K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2269K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2372	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCCTGTCTTCCCAGGCCCAC	0.458																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7114-7116)Gaa>Aaa		nuclear receptor corepressor 1							96.0	98.0	98.0					17																	15938100		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15938100C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7114G>A	17.37:g.15938100C>T	ENSP00000268712:p.Glu2372Lys					NCOR1_ENST00000395857.3_Missense_Mutation_p.E956K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2269K	p.E2372K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	45	7371	-			2372			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7114G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507501	0.96386	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.59364	0.27;0.87;0.36	5.51	4.54	0.55810	.	0.043323	0.85682	D	0.000000	T	0.74756	0.3758	M	0.76574	2.34	0.58432	D	0.999999	D;B;D;D;D	0.76494	0.999;0.012;0.996;0.991;0.999	D;B;D;P;D	0.83275	0.91;0.006;0.99;0.858;0.996	T	0.78478	-0.2188	10	0.87932	D	0	-12.0502	13.693	0.62559	0.0:0.9256:0.0:0.0744	.	2275;2372;2269;891;385	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	K	2372;2269;2275;956	ENSP00000268712:E2372K;ENSP00000379192:E2269K;ENSP00000379198:E956K	ENSP00000268712:E2372K	E	-	1	0	NCOR1	15878825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	1.480000	0.48289	0.585000	0.79938	GAA		0.458	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		39	59	0	0	0	1	0	39	59				
KDR	3791	broad.mit.edu	37	4	55955873	55955873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:55955873C>T	ENST00000263923.4	-	24	3584	c.3289G>A	c.(3289-3291)Gaa>Aaa	p.E1097K	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1097	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|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)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATATTTCCCACAGCAAA	0.423			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(3289-3291)Gaa>Aaa		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						135.0	145.0	142.0					4																	55955873		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955873C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3289G>A	4.37:g.55955873C>T	ENSP00000263923:p.Glu1097Lys	TSP Lung(20;0.16)				RP11-530I17.1_ENST00000511222.1_RNA	p.E1097K	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		24	3584	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1097			Protein kinase.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3289G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923139	0.92319	.	.	ENSG00000128052	ENST00000263923	D	0.94576	-3.46	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98325	1.0530	10	0.72032	D	0.01	.	20.0674	0.97707	0.0:1.0:0.0:0.0	.	1097	P35968	VGFR2_HUMAN	K	1097	ENSP00000263923:E1097K	ENSP00000263923:E1097K	E	-	1	0	KDR	55650630	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.818000	0.86416	2.735000	0.93741	0.563000	0.77884	GAA		0.423	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			24	76	0	0	0	1	0	24	76				
KCNH5	27133	broad.mit.edu	37	14	63269170	63269170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269170G>A	ENST00000322893.7	-	9	1967	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Q567*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Q509*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	567					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGAATGGTTTGGAACTCTACC	0.507																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1699-1701)Caa>Taa		potassium voltage-gated channel, subfamily H (eag-related), member 5							91.0	83.0	86.0					14																	63269170		2203	4300	6503	SO:0001587	stop_gained	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269170G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1699C>T	14.37:g.63269170G>A	ENSP00000321427:p.Gln567*					KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Q509*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Q567*	p.Q567*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1967	-			567					C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	c.1699C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	39	7.811646	0.98504	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	.	.	.	5.03	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5294	0.75942	0.0:0.1389:0.8611:0.0	.	.	.	.	X	567;567;509	.	ENSP00000321427:Q567X	Q	-	1	0	KCNH5	62338923	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	7.952000	0.87827	1.217000	0.43442	0.563000	0.77884	CAA		0.507	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		23	49	0	0	0	1	0	23	49				
CHST5	23563	broad.mit.edu	37	16	75563191	75563191	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:75563191G>A	ENST00000336257.3	-	3	2486	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	CHST5_ENST00000541075.1_Silent_p.I370I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	364					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACGCGCAGGATCTTAGTGA	0.657																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(1090-1092)atC>atT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							64.0	53.0	57.0					16																	75563191		2198	4299	6497	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563191G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1092C>T	16.37:g.75563191G>A						RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.I370I	p.I364I	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	2486	-			364					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.1092C>T	CCDS10919.1																																																																																				0.657	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		22	48	0	0	0	1	0	22	48				
SLC12A9	56996	broad.mit.edu	37	7	100452246	100452246	+	Silent	SNP	C	C	T	rs374596888		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100452246C>T	ENST00000354161.3	+	3	311	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000540482.1_Silent_p.F62F|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000428758.1_Silent_p.F62F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	62					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAGGGTTCGTGGTGGGTC	0.607																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(184-186)ttC>ttT		solute carrier family 12, member 9		C		0,4406		0,0,2203	98.0	83.0	88.0		186	0.0	1.0	7		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC12A9	NM_020246.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		62/915	100452246	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100452246C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.186C>T	7.37:g.100452246C>T						SLC12A9_ENST00000428758.1_Silent_p.F62F|SLC12A9_ENST00000540482.1_Silent_p.F62F|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron	p.F62F	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			3	311	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		62					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.186C>T	CCDS5707.1																																																																																				0.607	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		37	56	0	0	0	1	0	37	56				
CCDC43	124808	broad.mit.edu	37	17	42756379	42756379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42756379G>A	ENST00000315286.8	-	5	528	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	CCDC43_ENST00000457422.2_Missense_Mutation_p.P154L|CCDC43_ENST00000588210.1_Missense_Mutation_p.L177F|RP11-1072C15.4_ENST00000591628.1_RNA|C17orf104_ENST00000588805.1_3'UTR	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	174				L -> F (in Ref. 1; BAB71162). {ECO:0000305}.						lung(2)	2		Prostate(33;0.0322)				CGGGCATTAAGGACATCTTCC	0.488																																						ENST00000315286.8																			0				lung(2)	2						c.(520-522)Ctt>Ttt		coiled-coil domain containing 43							118.0	116.0	116.0					17																	42756379		2011	4188	6199	SO:0001583	missense	124808							g.chr17:42756379G>A	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.520C>T	17.37:g.42756379G>A	ENSP00000323782:p.Leu174Phe					CCDC43_ENST00000457422.2_Missense_Mutation_p.P154L|CCDC43_ENST00000588210.1_Missense_Mutation_p.L177F|C17orf104_ENST00000588805.1_3'UTR	p.L174F	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			5	528	-		Prostate(33;0.0322)	174	L -> F (in Ref. 1; BAB71162).				C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	c.520C>T	CCDS45704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.431465|3.431465	0.62844|0.62844	.|.	.|.	ENSG00000180329|ENSG00000180329	ENST00000315286|ENST00000457422	.|.	.|.	.|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59321|0.59321	0.2185|0.2185	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B|B	0.21071|0.22983	0.051|0.078	B|B	0.19391|0.24394	0.025|0.053	T|T	0.56426|0.56426	-0.7981|-0.7981	8|7	0.40728|0.87932	T|D	0.16|0	-4.1904|-4.1904	16.6929|16.6929	0.85326|0.85326	0.0:0.1294:0.8706:0.0|0.0:0.1294:0.8706:0.0	.|.	174|154	Q96MW1|Q96MW1-2	CCD43_HUMAN|.	F|L	174|154	.|.	ENSP00000323782:L174F|ENSP00000400845:P154L	L|P	-|-	1|2	0|0	CCDC43|CCDC43	40111905|40111905	0.633000|0.633000	0.27181|0.27181	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.591000|0.591000	0.23969|0.23969	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTT|CCT		0.488	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		12	24	0	0	0	1	0	12	24				
ZNF416	55659	broad.mit.edu	37	19	58084505	58084505	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58084505G>A	ENST00000196489.3	-	4	989	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGAACAAGGGAGCACTCACA	0.468																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(766-768)tCc>tTc		zinc finger protein 416							135.0	131.0	133.0					19																	58084505		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084505G>A	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.767C>T	19.37:g.58084505G>A	ENSP00000196489:p.Ser256Phe						p.S256F	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	989	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	256					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.767C>T	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158024	0.38119	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.02067	4.47	3.7	-0.529	0.11901	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	M	0.68317	2.08	0.09310	N	1	D	0.61697	0.99	P	0.54664	0.758	T	0.32613	-0.9900	9	0.62326	D	0.03	.	2.6375	0.04962	0.0991:0.3257:0.342:0.2332	.	256	Q9BWM5	ZN416_HUMAN	F	256;242;236	ENSP00000196489:S256F	ENSP00000196489:S256F	S	-	2	0	ZNF416	62776317	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.225000	0.09151	0.027000	0.15297	0.655000	0.94253	TCC		0.468	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		66	79	0	0	0	1	0	66	79				
ARPP21	10777	broad.mit.edu	37	3	35724377	35724377	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:35724377C>T	ENST00000187397.4	+	4	623	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ARPP21_ENST00000428373.1_Missense_Mutation_p.S56F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S56F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S56F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S56F|ARPP21_ENST00000432682.1_Missense_Mutation_p.S56F|ARPP21_ENST00000458225.1_Missense_Mutation_p.S56F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S56F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S56F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S56F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S56F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S56F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S56F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	56					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGAAGAAAATCCAAGGTAGGG	0.328																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(166-168)tCc>tTc		cAMP-regulated phosphoprotein, 21kDa							94.0	104.0	101.0					3																	35724377		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35724377C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.167C>T	3.37:g.35724377C>T	ENSP00000187397:p.Ser56Phe					ARPP21_ENST00000458225.1_Missense_Mutation_p.S56F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S56F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S56F|ARPP21_ENST00000432682.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S56F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S56F|ARPP21_ENST00000428373.1_Missense_Mutation_p.S56F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S56F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S56F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S56F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S56F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S56F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S56F	p.S56F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			4	623	+			56					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.167C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486783	0.84854	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	T;T;T;T;T;T;T	0.56103	0.48;1.76;1.72;1.72;1.64;0.48;1.76	6.02	6.02	0.97574	.	0.206931	0.43919	D	0.000509	T	0.71753	0.3377	M	0.70275	2.135	0.50632	D	0.999882	D;D;D;D	0.89917	1.0;0.994;0.973;0.999	D;D;P;D	0.77004	0.977;0.989;0.663;0.977	T	0.72090	-0.4395	10	0.59425	D	0.04	-13.4422	16.0408	0.80680	0.0:1.0:0.0:0.0	.	56;56;56;56	Q9UBL0-3;A8K1F3;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	F	56	ENSP00000411644:S56F;ENSP00000414351:S56F;ENSP00000337792:S56F;ENSP00000405276:S56F;ENSP00000187397:S56F;ENSP00000390169:S56F;ENSP00000412326:S56F	ENSP00000187397:S56F	S	+	2	0	ARPP21	35699381	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.291000	0.59025	2.865000	0.98341	0.655000	0.94253	TCC		0.328	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		14	43	0	0	0	1	0	14	43				
SCN11A	11280	broad.mit.edu	37	3	38938499	38938499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38938499C>A	ENST00000302328.3	-	14	2438	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	SCN11A_ENST00000456224.3_Missense_Mutation_p.R747L|SCN11A_ENST00000444237.2_Missense_Mutation_p.R747L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	747					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGCCAGTGCCGTAAACATGA	0.493																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2239-2241)cGg>cTg		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						121.0	109.0	113.0					3																	38938499		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938499C>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2240G>T	3.37:g.38938499C>A	ENSP00000307599:p.Arg747Leu					SCN11A_ENST00000444237.2_Missense_Mutation_p.R747L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747L	p.R747L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2438	-			747					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2240G>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144114	0.77888	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0	5.95	5.08	0.68730	Ion transport (1);	0.000000	0.30630	N	0.009212	D	0.96583	0.8885	M	0.78456	2.415	0.20403	N	0.999901	B	0.34214	0.442	B	0.32533	0.147	D	0.93210	0.6599	10	0.54805	T	0.06	.	5.3606	0.16085	0.1763:0.6308:0.1177:0.0752	.	747	Q9UI33	SCNBA_HUMAN	L	747	ENSP00000307599:R747L;ENSP00000400945:R747L;ENSP00000416757:R747L;ENSP00000408028:R747L	ENSP00000307599:R747L	R	-	2	0	SCN11A	38913503	0.728000	0.28080	0.079000	0.20413	0.325000	0.28411	1.212000	0.32394	1.534000	0.49203	0.650000	0.86243	CGG		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		19	35	1	0	4.96729e-08	1	5.00323e-08	19	35				
ARMC4	55130	broad.mit.edu	37	10	28149713	28149713	+	Silent	SNP	C	C	T	rs145155399		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:28149713C>T	ENST00000305242.5	-	19	2954	c.2862G>A	c.(2860-2862)agG>agA	p.R954R	ARMC4_ENST00000545014.1_Silent_p.R479R|ARMC4_ENST00000537576.1_Silent_p.R646R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	954					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACTCTATTCCTGCCCCACA	0.463																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2860-2862)agG>agA		armadillo repeat containing 4							177.0	143.0	155.0					10																	28149713		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28149713C>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2862G>A	10.37:g.28149713C>T						ARMC4_ENST00000545014.1_Silent_p.R479R|ARMC4_ENST00000537576.1_Silent_p.R646R	p.R954R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			19	2954	-			954					A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.2862G>A	CCDS7157.1																																																																																				0.463	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		24	39	0	0	0	1	0	24	39				
PCDHA9	9752	broad.mit.edu	37	5	140229624	140229624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140229624G>A	ENST00000532602.1	+	1	2577	c.1544G>A	c.(1543-1545)gGc>gAc	p.G515D	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.G515D|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGCGGCAAGGTGTAC	0.692																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1543-1545)gGc>gAc									57.0	65.0	62.0					5																	140229624		2196	4270	6466	SO:0001583	missense	9752							g.chr5:140229624G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1544G>A	5.37:g.140229624G>A	ENSP00000436042:p.Gly515Asp					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G515D|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.G515D	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2268	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1544G>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671530	0.88348	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	D;D	0.91464	-2.85;-2.85	3.56	3.56	0.40772	Cadherin (5);Cadherin-like (1);	0.000000	0.32231	U	0.006385	D	0.96445	0.8840	H	0.95004	3.61	0.47994	D	0.999563	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97730	1.0202	10	0.87932	D	0	.	15.3609	0.74472	0.0:0.0:1.0:0.0	.	515;515	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	D	515	ENSP00000436042:G515D;ENSP00000367362:G515D	ENSP00000367362:G515D	G	+	2	0	PCDHA9	140209808	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.797000	0.91882	1.973000	0.57446	0.306000	0.20318	GGC		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		62	104	0	0	0	1	0	62	104				
TEAD4	7004	broad.mit.edu	37	12	3149531	3149531	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:3149531G>A	ENST00000397122.2	+	11	1090	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	TEAD4_ENST00000358409.2_Splice_Site_p.V355M|RP11-253E3.3_ENST00000513358.3_RNA|TEAD4_ENST00000359864.2_Splice_Site_p.V398M	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	398					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCCCACAGGTGGTCACCAA	0.577																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.e13-1		TEA domain family member 4							69.0	65.0	66.0					12																	3149531		2203	4300	6503	SO:0001630	splice_region_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3149531G>A	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.805-1G>A	12.37:g.3149531G>A						TEAD4_ENST00000358409.2_Splice_Site_p.V355_splice|TEAD4_ENST00000397122.2_Splice_Site_p.V269_splice	p.V398_splice	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		13	1382	+	Ovarian(42;0.211)		398					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Splice_Site	SNP	ENST00000397122.2	37	c.1191_splice	CCDS41737.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288759	0.80914	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.41400	1.0;1.0;1.0	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000003	T	0.73473	0.3591	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81892	-0.0724	9	.	.	.	-18.9173	16.8124	0.85724	0.0:0.0:1.0:0.0	.	398	Q15561	TEAD4_HUMAN	M	355;398;269	ENSP00000351184:V355M;ENSP00000352926:V398M;ENSP00000380311:V269M	.	V	+	1	0	TEAD4	3019792	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	5.613000	0.67688	2.437000	0.82529	0.655000	0.94253	GTG		0.577	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213	Missense_Mutation	18	30	0	0	0	1	0	18	30				
C9orf41	138199	broad.mit.edu	37	9	77631274	77631274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:77631274C>T	ENST00000376834.3	-	3	652	c.500G>A	c.(499-501)aGa>aAa	p.R167K	RP11-197P3.5_ENST00000455336.2_RNA|C9orf41_ENST00000376837.3_Missense_Mutation_p.R167K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	167										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ACTCCAGTCTCTCACAAACTG	0.358																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(499-501)aGa>aAa		chromosome 9 open reading frame 41							182.0	186.0	184.0					9																	77631274		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77631274C>T	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.500G>A	9.37:g.77631274C>T	ENSP00000366030:p.Arg167Lys					C9orf41_ENST00000376837.3_Missense_Mutation_p.R167K	p.R167K	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			3	652	-			167					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.500G>A	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077283	0.94000	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03717	3.83;3.83	5.99	5.99	0.97316	N2227-like (1);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.92219	3.285	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.10428	-1.0630	10	0.87932	D	0	-16.8121	20.4777	0.99188	0.0:1.0:0.0:0.0	.	167	Q8N4J0	CI041_HUMAN	K	167;167;106	ENSP00000366030:R167K;ENSP00000396353:R106K	ENSP00000366030:R167K	R	-	2	0	C9orf41	76821094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.840000	0.97914	0.655000	0.94253	AGA		0.358	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		93	32	0	0	0	1	0	93	32				
HSD17B4	3295	broad.mit.edu	37	5	118809645	118809645	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:118809645C>T	ENST00000256216.6	+	3	288	c.155C>T	c.(154-156)tCc>tTc	p.S52F	HSD17B4_ENST00000504811.1_Missense_Mutation_p.S77F|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S34F|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S28F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	52	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GGTAAAGGCTCCTTAGCTGCT	0.363																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(229-231)tCc>tTc		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						107.0	109.0	108.0					5																	118809645		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118809645C>T		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.155C>T	5.37:g.118809645C>T	ENSP00000256216:p.Ser52Phe					HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S34F|HSD17B4_ENST00000256216.6_Missense_Mutation_p.S52F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S28F	p.S77F	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	4	414	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	52			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.230C>T	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949288	0.92660	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.89552	-2.38;-2.53;-2.53;-2.53	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.055697	0.85682	D	0.000000	D	0.91171	0.7219	L	0.28504	0.86	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.998;0.998	D;D;D;D	0.70016	0.919;0.93;0.967;0.955	D	0.92562	0.6059	10	0.87932	D	0	-8.8686	18.222	0.89904	0.0:1.0:0.0:0.0	.	77;34;28;52	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	F	52;34;28;77	ENSP00000256216:S52F;ENSP00000424613:S34F;ENSP00000424940:S28F;ENSP00000420914:S77F	ENSP00000256216:S52F	S	+	2	0	HSD17B4	118837544	1.000000	0.71417	0.950000	0.38849	0.969000	0.65631	4.898000	0.63238	2.406000	0.81754	0.561000	0.74099	TCC		0.363	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		7	19	0	0	0	1	0	7	19				
ZXDA	7789	broad.mit.edu	37	X	57935882	57935882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:57935882C>T	ENST00000358697.4	-	1	1185	c.973G>A	c.(973-975)Gat>Aat	p.D325N		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	325	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CGCAGTTTATCGTGCGACTGC	0.622																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(973-975)Gat>Aat		zinc finger, X-linked, duplicated A							32.0	32.0	32.0					X																	57935882		2203	4300	6503	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935882C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.973G>A	X.37:g.57935882C>T	ENSP00000351530:p.Asp325Asn						p.D325N	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1185	-			325			Required for interaction with ZXDC.		Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.973G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	16.40	3.112753	0.56398	.	.	ENSG00000198205	ENST00000358697	T	0.14640	2.49	3.23	3.23	0.37069	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.05823	0.0152	N	0.04043	-0.29	0.80722	D	1	P	0.48350	0.909	B	0.39876	0.312	T	0.46871	-0.9160	9	.	.	.	.	11.591	0.50945	0.0:1.0:0.0:0.0	.	325	P98168	ZXDA_HUMAN	N	325	ENSP00000351530:D325N	.	D	-	1	0	ZXDA	57952607	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	1.531000	0.36018	1.872000	0.54250	0.415000	0.27848	GAT		0.622	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		18	24	0	0	0	1	0	18	24				
GABRA2	2555	broad.mit.edu	37	4	46264115	46264115	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:46264115A>T	ENST00000510861.1	-	9	1060	c.887T>A	c.(886-888)cTa>cAa	p.L296Q	GABRA2_ENST00000356504.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	296					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTGATGCTTAGAGTTGTCAT	0.418																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(886-888)cTa>cAa		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						109.0	101.0	103.0					4																	46264115		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46264115A>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.887T>A	4.37:g.46264115A>T	ENSP00000421828:p.Leu296Gln					GABRA2_ENST00000356504.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296Q	p.L296Q			P47869	GBRA2_HUMAN			9	1060	-			296					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.887T>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682906	0.88542	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-0.81;-2.31	5.35	5.35	0.76521	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	L	0.43701	1.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87360	0.2343	10	0.20519	T	0.43	.	14.7979	0.69891	1.0:0.0:0.0:0.0	.	241;296;296	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	Q	296;296;296;296;241;296;296	ENSP00000421828:L296Q;ENSP00000421300:L296Q;ENSP00000371033:L296Q;ENSP00000348897:L296Q;ENSP00000444409:L241Q;ENSP00000427603:L296Q;ENSP00000423840:L296Q	ENSP00000348897:L296Q	L	-	2	0	GABRA2	45958872	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.264000	0.78432	2.161000	0.67846	0.482000	0.46254	CTA		0.418	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			12	42	0	0	0	1	0	12	42				
URAD	646625	broad.mit.edu	37	13	28562674	28562674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:28562674G>A	ENST00000332715.5	-	1	117	c.101C>T	c.(100-102)tCc>tTc	p.S34F	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	34					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										TGGCCGCTGGGACCAAACAGC	0.468																																						ENST00000332715.4																			0											c.(100-102)tCc>tTc		ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase							93.0	95.0	94.0					13																	28562674		2024	4187	6211	SO:0001583	missense	646625							g.chr13:28562674G>A		CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	4.1.1.n1		17785	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	615804	"""parahox cluster neighbor"""	PRHOXNB		16462750	Standard	NM_001105577		Approved		uc010aan.1	A6NGE7	OTTHUMG00000186217	ENST00000332715.5:c.101C>T	13.37:g.28562674G>A	ENSP00000333490:p.Ser34Phe						p.S34F	NM_001105577.1	NP_001099047.1					1	100	-									Missense_Mutation	SNP	ENST00000332715.5	37	c.101C>T	CCDS45020.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536064	0.64972	.	.	ENSG00000183463	ENST00000332715	T	0.46451	0.87	5.29	4.39	0.52855	2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase, type 1 (1);Oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase (2);	0.140170	0.49305	D	0.000154	T	0.64034	0.2562	M	0.84326	2.69	0.37409	D	0.913164	D	0.89917	1.0	D	0.73708	0.981	T	0.72239	-0.4351	10	0.66056	D	0.02	-0.3978	11.0901	0.48110	0.0:0.1868:0.8132:0.0	.	34	A6NGE7	URAD_HUMAN	F	34	ENSP00000333490:S34F	ENSP00000333490:S34F	S	-	2	0	PRHOXNB	27460674	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	2.954000	0.49113	2.473000	0.83533	0.655000	0.94253	TCC		0.468	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1			24	43	0	0	0	1	0	24	43				
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718777G>A	ENST00000394576.2	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(238-240)cGa>cAa									59.0	64.0	62.0					5																	140718777		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718777G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.239G>A	5.37:g.140718777G>A	ENSP00000378077:p.Arg80Gln					PCDHGA1_ENST00000517417.1_Intron	p.R80Q	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	239	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.239G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536404	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.26810	1.71	5.08	3.27	0.37495	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37136	U	0.002224	T	0.19327	0.0464	L	0.48877	1.53	0.09310	N	1	P;P	0.35944	0.497;0.529	B;B	0.34652	0.118;0.187	T	0.13683	-1.0500	10	0.48119	T	0.1	.	5.4761	0.16695	0.3917:0.0:0.6083:0.0	.	80;80	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	80	ENSP00000378077:R80Q	ENSP00000378077:R80Q	R	+	2	0	PCDHGA2	140698961	0.001000	0.12720	0.804000	0.32291	0.427000	0.31564	1.396000	0.34531	1.280000	0.44463	-0.218000	0.12543	CGA		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		28	69	0	0	0	1	0	28	69				
TTC39B	158219	broad.mit.edu	37	9	15190562	15190562	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:15190562G>A	ENST00000512701.2	-	11	1131	c.1095C>T	c.(1093-1095)tcC>tcT	p.S365S	TTC39B_ENST00000507285.1_Silent_p.S200S|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000297615.5_Silent_p.S296S|TTC39B_ENST00000380850.4_Silent_p.S365S|TTC39B_ENST00000355694.2_Silent_p.S299S|TTC39B_ENST00000507993.1_Silent_p.S200S			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	365										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CAAGTATTAGGGAGATGTAAG	0.453																																						ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(895-897)tcC>tcT		tetratricopeptide repeat domain 39B							93.0	86.0	88.0					9																	15190562		2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15190562G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1095C>T	9.37:g.15190562G>A						TTC39B_ENST00000512701.1_Silent_p.S365S|TTC39B_ENST00000380850.4_Silent_p.S365S|TTC39B_ENST00000507285.1_Silent_p.S200S|TTC39B_ENST00000297615.5_Silent_p.S296S|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507993.1_Silent_p.S200S	p.S299S	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			11	1131	-			299					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.897C>T	CCDS6477.2																																																																																				0.453	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		19	11	0	0	0	1	0	19	11				
TUBAL3	79861	broad.mit.edu	37	10	5442963	5442963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5442963G>A	ENST00000380419.3	-	2	128	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	31					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCATTTGGCTGGATTCCATGT	0.473																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(91-93)Cag>Tag		tubulin, alpha-like 3							185.0	166.0	172.0					10																	5442963		2203	4300	6503	SO:0001587	stop_gained	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5442963G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.91C>T	10.37:g.5442963G>A	ENSP00000369784:p.Gln31*					TUBAL3_ENST00000479328.1_Intron	p.Q31*	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			2	128	-			31					B4DKL2|Q4QQJ5|Q9H6Z0	Nonsense_Mutation	SNP	ENST00000380419.3	37	c.91C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853284	0.91355	.	.	ENSG00000178462	ENST00000380419	.	.	.	4.06	4.06	0.47325	.	0.000000	0.38778	N	0.001573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7022	0.77549	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000369784:Q31X	Q	-	1	0	TUBAL3	5432963	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.737000	0.84957	2.193000	0.70182	0.655000	0.94253	CAG		0.473	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		50	103	0	0	0	1	0	50	103				
DPRX	503834	broad.mit.edu	37	19	54137815	54137815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54137815G>A	ENST00000376650.1	+	2	110	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACAGGAAACGAACCATGTTC	0.433																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(58-60)cGa>cAa		divergent-paired related homeobox							167.0	144.0	152.0					19																	54137815		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137815G>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.59G>A	19.37:g.54137815G>A	ENSP00000365838:p.Arg20Gln						p.R20Q	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	110	+	Ovarian(34;0.19)		20						Missense_Mutation	SNP	ENST00000376650.1	37	c.59G>A	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326954	0.41197	.	.	ENSG00000204595	ENST00000376650	D	0.99150	-5.49	1.55	0.487	0.16842	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.99190	0.9719	M	0.94021	3.485	0.09310	N	1	D	0.76494	0.999	D	0.72625	0.978	D	0.95639	0.8696	9	0.87932	D	0	.	3.9143	0.09216	0.2331:0.0:0.7669:0.0	.	20	A6NFQ7	DPRX_HUMAN	Q	20	ENSP00000365838:R20Q	ENSP00000365838:R20Q	R	+	2	0	DPRX	58829627	0.045000	0.20229	0.014000	0.15608	0.111000	0.19643	0.509000	0.22707	0.230000	0.21059	0.555000	0.69702	CGA		0.433	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		62	85	0	0	0	1	0	62	85				
MYO3B	140469	broad.mit.edu	37	2	171248046	171248046	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:171248046C>T	ENST00000408978.4	+	15	1737	c.1594C>T	c.(1594-1596)Cat>Tat	p.H532Y	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.H532Y|MYO3B_ENST00000334231.6_Missense_Mutation_p.H541Y	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	532	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GAAAAATTTTCATATATTTTA	0.348																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(1621-1623)Cat>Tat		myosin IIIB							23.0	23.0	23.0					2																	171248046		1774	4045	5819	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171248046C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1594C>T	2.37:g.171248046C>T	ENSP00000386213:p.His532Tyr					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.H532Y|MYO3B_ENST00000408978.4_Missense_Mutation_p.H532Y	p.H541Y			Q8WXR4	MYO3B_HUMAN			15	1621	+			532			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1621C>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713416	0.89112	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	H	0.98682	4.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98419	1.0576	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	532;532;532	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Y	532;532;531;541;541	ENSP00000386497:H532Y;ENSP00000386213:H532Y;ENSP00000446237:H541Y;ENSP00000335100:H541Y	ENSP00000314213:H531Y	H	+	1	0	MYO3B	170956292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.941000	0.99782	0.655000	0.94253	CAT		0.348	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			6	21	0	0	0	1	0	6	21				
TNRC6B	23112	broad.mit.edu	37	22	40662488	40662488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40662488G>A	ENST00000454349.2	+	5	2465	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.E752K|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	752	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TTGGGGGGAGGAAGTCGATCA	0.517																																						ENST00000454349.2																			0				breast(1)	1						c.(2254-2256)Gaa>Aaa		trinucleotide repeat containing 6B							43.0	47.0	46.0					22																	40662488		1904	4117	6021	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662488G>A	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2254G>A	22.37:g.40662488G>A	ENSP00000401946:p.Glu752Lys					TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E752K|TNRC6B_ENST00000301923.9_Intron	p.E752K	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	2465	+			752					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2254G>A	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	3.496	-0.102836	0.06967	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.11495	2.78;2.77	5.46	5.46	0.80206	.	0.325284	0.37857	N	0.001916	T	0.04724	0.0128	N	0.03608	-0.345	0.40365	D	0.979287	P;B;P	0.43094	0.799;0.421;0.557	B;B;B	0.32762	0.152;0.054;0.116	T	0.52200	-0.8607	10	0.13108	T	0.6	-4.8297	19.3028	0.94150	0.0:0.0:1.0:0.0	.	752;752;752	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	K	752	ENSP00000401946:E752K;ENSP00000338371:E752K	ENSP00000338371:E752K	E	+	1	0	TNRC6B	38992434	1.000000	0.71417	0.997000	0.53966	0.282000	0.26991	6.705000	0.74644	2.575000	0.86900	0.561000	0.74099	GAA		0.517	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				9	24	0	0	0	1	0	9	24				
TTN	7273	broad.mit.edu	37	2	179489447	179489447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179489447C>A	ENST00000591111.1	-	192	39861	c.39637G>T	c.(39637-39639)Gaa>Taa	p.E13213*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E5981*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E12286*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E14854*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5914*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5789*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13213	Ig-like 88.				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)			TTAGTGAATTCAACTGGGGGT	0.483																																						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.(44560-44562)Gaa>Taa		titin							55.0	54.0	55.0					2																	179489447		1837	4081	5918	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179489447C>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.39637G>T	2.37:g.179489447C>A	ENSP00000465570:p.Glu13213*					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E12286*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E13213*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5914*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5981*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5789*|TTN-AS1_ENST00000585451.1_RNA	p.E14854*	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)		242	44784	-			13213			Fibronectin type-III 7.		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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.44560G>T		.	.	.	.	.	.	.	.	.	.	C	58	31.889048	0.99979	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	.	.	.	X	12286;5789;5981;5914;5789	.	ENSP00000340554:E5981X	E	-	1	0	TTN	179197692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.765000	0.95021	0.650000	0.86243	GAA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	32	1	0	1.39806e-14	1	1.42016e-14	23	32				
SIGLEC9	27180	broad.mit.edu	37	19	51631689	51631689	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51631689G>A	ENST00000250360.3	+	6	1192	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	SIGLEC9_ENST00000440804.3_Silent_p.K375K	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	375					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTGCAGGAAGAAATCGGCAA	0.577																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(1123-1125)aaG>aaA		sialic acid binding Ig-like lectin 9							102.0	91.0	95.0					19																	51631689		2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51631689G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1125G>A	19.37:g.51631689G>A						SIGLEC9_ENST00000250360.3_Silent_p.K375K	p.K375K	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	6	1192	+		all_neural(266;0.0529)	375					Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.1125G>A	CCDS12825.1																																																																																				0.577	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		13	40	0	0	0	1	0	13	40				
NLRP4	147945	broad.mit.edu	37	19	56373416	56373416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56373416C>T	ENST00000301295.6	+	5	2499	c.2077C>T	c.(2077-2079)Cag>Tag	p.Q693*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	693					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCTTTTATCAGCCAGACTT	0.433																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2077-2079)Cag>Tag		NLR family, pyrin domain containing 4							161.0	153.0	156.0					19																	56373416		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56373416C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2077C>T	19.37:g.56373416C>T	ENSP00000301295:p.Gln693*					NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693*	p.Q693*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2499	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	693					Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.2077C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	39	7.408075	0.98265	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	3.26	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.5662	0.22513	0.7303:0.2697:0.0:0.0	.	.	.	.	X	693	.	ENSP00000301295:Q693X	Q	+	1	0	NLRP4	61065228	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.704000	0.25661	0.638000	0.30545	-0.457000	0.05445	CAG		0.433	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		36	66	0	0	0	1	0	36	66				
HOXB4	3214	broad.mit.edu	37	17	46655603	46655603	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:46655603C>T	ENST00000332503.5	-	1	1870	c.79G>A	c.(79-81)Gat>Aat	p.D27N	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	27	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						GGTAGGTAATCGCTCTGTGAA	0.582																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(79-81)Gat>Aat		homeobox B4							32.0	38.0	36.0					17																	46655603		2196	4291	6487	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655603C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.79G>A	17.37:g.46655603C>T	ENSP00000328928:p.Asp27Asn					HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron	p.D27N	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	1870	-			27			Pro-rich (part of the transcriptional activation domain).		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.79G>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.819993	0.16678	.	.	ENSG00000182742	ENST00000332503	T	0.53640	0.61	3.69	3.69	0.42338	.	0.334157	0.26528	U	0.023874	T	0.28134	0.0694	N	0.25890	0.77	0.41007	D	0.984978	B	0.31968	0.349	B	0.24155	0.051	T	0.16660	-1.0395	10	0.02654	T	1	.	14.2471	0.65995	0.0:1.0:0.0:0.0	.	27	P17483	HXB4_HUMAN	N	27	ENSP00000328928:D27N	ENSP00000328928:D27N	D	-	1	0	HOXB4	44010602	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.943000	0.49026	1.625000	0.50366	0.306000	0.20318	GAT		0.582	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			20	20	0	0	0	1	0	20	20				
MYO10	4651	broad.mit.edu	37	5	16701600	16701600	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701600G>A	ENST00000513610.1	-	25	3358	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	MYO10_ENST00000427430.2_Silent_p.S325S|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Silent_p.S325S|MYO10_ENST00000515803.1_Silent_p.S307S|MYO10_ENST00000505695.1_Silent_p.S307S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	968					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCAGCTCGCTGGAAAATTCGC	0.607																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2902-2904)tcC>tcT		myosin X							36.0	40.0	39.0					5																	16701600		2110	4236	6346	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701600G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2904C>T	5.37:g.16701600G>A						MYO10_ENST00000515803.1_Silent_p.S307S|MYO10_ENST00000505695.1_Silent_p.S307S|MYO10_ENST00000427430.2_Silent_p.S325S|MYO10_ENST00000274203.9_Silent_p.S325S	p.S968S	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3358	-			968					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.2904C>T	CCDS54834.1																																																																																				0.607	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		16	32	0	0	0	1	0	16	32				
LRRC4C	57689	broad.mit.edu	37	11	40137317	40137317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40137317G>A	ENST00000278198.2	-	2	2489	c.526C>T	c.(526-528)Cga>Tga	p.R176*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(526-528)Cga>Tga		leucine rich repeat containing 4C							92.0	91.0	91.0					11																	40137317		2203	4300	6503	SO:0001587	stop_gained	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137317G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.526C>T	11.37:g.40137317G>A	ENSP00000278198:p.Arg176*					LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176*	p.R176*			Q9HCJ2	LRC4C_HUMAN			2	2489	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	176					A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	c.526C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162653	0.98107	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8889	0.52618	0.0:0.0:0.694:0.306	.	.	.	.	X	176	.	ENSP00000278198:R176X	R	-	1	2	LRRC4C	40093893	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.985000	0.40668	2.754000	0.94517	0.650000	0.86243	CGA		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		34	47	0	0	0	1	0	34	47				
EPHB1	2047	broad.mit.edu	37	3	134670708	134670708	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:134670708C>T	ENST00000398015.3	+	3	989	c.619C>T	c.(619-621)Cca>Tca	p.P207S	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	207	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGCAGTGTTTCCAGAGACTAT	0.488																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(619-621)Cca>Tca		EPH receptor B1							194.0	184.0	187.0					3																	134670708		1954	4166	6120	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670708C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.619C>T	3.37:g.134670708C>T	ENSP00000381097:p.Pro207Ser					EPHB1_ENST00000488154.1_Intron	p.P207S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	989	+			207			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.619C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621433	0.66787	.	.	ENSG00000154928	ENST00000398015	T	0.77098	-1.07	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90008	0.4119	9	.	.	.	.	15.4417	0.75187	0.14:0.86:0.0:0.0	.	207	P54762	EPHB1_HUMAN	S	207	ENSP00000381097:P207S	.	P	+	1	0	EPHB1	136153398	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.088000	0.71371	1.235000	0.43724	0.561000	0.74099	CCA		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		71	125	0	0	0	1	0	71	125				
ZNF665	79788	broad.mit.edu	37	19	53668207	53668207	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53668207T>C	ENST00000600412.1	-	2	1456	c.1341A>G	c.(1339-1341)aaA>aaG	p.K447K	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.K512K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACTTGTAAGGTTTTTCTCCAG	0.378																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1339-1341)aaA>aaG		zinc finger protein 665							123.0	130.0	128.0					19																	53668207		2203	4300	6503	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668207T>C		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1341A>G	19.37:g.53668207T>C						ZNF665_ENST00000396424.3_Silent_p.K512K	p.K447K			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1456	-			447					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.1341A>G																																																																																					0.378	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		49	73	0	0	0	1	0	49	73				
SGOL1	151648	broad.mit.edu	37	3	20225107	20225107	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:20225107G>A	ENST00000263753.4	-	3	471	c.332C>T	c.(331-333)cCt>cTt	p.P111L	SGOL1_ENST00000417364.1_Missense_Mutation_p.P111L|SGOL1_ENST00000383774.1_Missense_Mutation_p.P111L|SGOL1_ENST00000443724.1_Missense_Mutation_p.P111L|SGOL1_ENST00000412997.1_Missense_Mutation_p.P111L|SGOL1_ENST00000452020.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.P111L|SGOL1_ENST00000306698.2_Missense_Mutation_p.P111L|SGOL1_ENST00000421451.1_Missense_Mutation_p.P111L|SGOL1_ENST00000442720.1_Missense_Mutation_p.P111L|SGOL1_ENST00000437051.1_Missense_Mutation_p.P111L|SGOL1_ENST00000429446.3_Missense_Mutation_p.P111L|SGOL1_ENST00000419233.2_Missense_Mutation_p.P111L|SGOL1_ENST00000425061.1_Missense_Mutation_p.P111L	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	111	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TACCTGAGCAGGTTCTACTGT	0.328																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(331-333)cCt>cTt		shugoshin-like 1 (S. pombe)							169.0	160.0	163.0					3																	20225107		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20225107G>A	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.332C>T	3.37:g.20225107G>A	ENSP00000263753:p.Pro111Leu					SGOL1_ENST00000383774.1_Missense_Mutation_p.P111L|SGOL1_ENST00000425061.1_Missense_Mutation_p.P111L|SGOL1_ENST00000452020.1_Missense_Mutation_p.P111L|SGOL1_ENST00000443724.1_Missense_Mutation_p.P111L|SGOL1_ENST00000412868.1_Missense_Mutation_p.P111L|SGOL1_ENST00000263753.4_Missense_Mutation_p.P111L|SGOL1_ENST00000442720.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.P111L|SGOL1_ENST00000417364.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Missense_Mutation_p.P111L|SGOL1_ENST00000419233.2_Missense_Mutation_p.P111L|SGOL1_ENST00000306698.2_Missense_Mutation_p.P111L|SGOL1_ENST00000421451.1_Missense_Mutation_p.P111L	p.P111L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			3	683	-			111			Necessary for interaction with PPP2CA and PPP2R1A.		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.332C>T	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.836071	0.00579	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;1.55;1.0;0.99;1.0;1.55;1.57;1.0;1.57;1.0	4.87	3.05	0.35203	.	1.680410	0.02794	N	0.122450	T	0.34483	0.0899	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B;B;B	0.26400	0.148;0.146;0.05;0.102;0.148;0.146;0.085	B;B;B;B;B;B;B	0.24394	0.053;0.024;0.037;0.049;0.037;0.024;0.037	T	0.15407	-1.0438	10	0.15499	T	0.54	.	3.098	0.06315	0.1484:0.1187:0.5278:0.2051	.	111;111;111;111;111;111;111	Q5FBB7-7;B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;.;SGOL1_HUMAN;.	L	111	ENSP00000394625:P111L;ENSP00000263753:P111L;ENSP00000373284:P111L;ENSP00000414960:P111L;ENSP00000413070:P111L;ENSP00000414129:P111L;ENSP00000410458:P111L;ENSP00000389034:P111L;ENSP00000406880:P111L;ENSP00000394613:P111L	ENSP00000263753:P111L	P	-	2	0	SGOL1	20200111	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.143000	0.10296	0.549000	0.28973	-0.136000	0.14681	CCT		0.328	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		32	50	0	0	0	1	0	32	50				
DISP2	85455	broad.mit.edu	37	15	40657438	40657438	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40657438G>A	ENST00000267889.3	+	6	897	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	270					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCCCCTGGAGGACAGAAGGC	0.607																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(808-810)gaG>gaA		dispatched homolog 2 (Drosophila)							40.0	46.0	44.0					15																	40657438		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40657438G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.810G>A	15.37:g.40657438G>A							p.E270E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	6	897	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	270					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.810G>A	CCDS10056.1																																																																																				0.607	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		22	45	0	0	0	1	0	22	45				
CCDC67	159989	broad.mit.edu	37	11	93088609	93088609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93088609G>A	ENST00000298050.3	+	3	202	c.102G>A	c.(100-102)atG>atA	p.M34I	CCDC67_ENST00000527307.1_Missense_Mutation_p.M34I|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	34					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACAAGAAAATGGATTGGGAAA	0.403																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(100-102)atG>atA		coiled-coil domain containing 67							116.0	114.0	115.0					11																	93088609		1863	4096	5959	SO:0001583	missense	159989							g.chr11:93088609G>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.102G>A	11.37:g.93088609G>A	ENSP00000298050:p.Met34Ile					CCDC67_ENST00000527307.1_Missense_Mutation_p.M34I|CCDC67_ENST00000530053.1_3'UTR	p.M34I	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			3	202	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	34					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.102G>A	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342483	0.24339	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.54	3.62	0.41486	.	0.503946	0.18450	N	0.140867	T	0.12475	0.0303	N	0.22421	0.69	0.25428	N	0.988203	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.08055	0.003;0.003;0.002	T	0.22277	-1.0221	10	0.33141	T	0.24	.	6.1244	0.20172	0.1916:0.0:0.6607:0.1477	.	34;34;26	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	I	34	ENSP00000432111:M34I;ENSP00000298050:M34I;ENSP00000434635:M34I;ENSP00000433002:M34I	ENSP00000298050:M34I	M	+	3	0	CCDC67	92728257	1.000000	0.71417	0.975000	0.42487	0.986000	0.74619	1.444000	0.35068	0.678000	0.31325	0.491000	0.48974	ATG		0.403	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		13	36	0	0	0	1	0	13	36				
ITIH2	3698	broad.mit.edu	37	10	7777003	7777003	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:7777003G>A	ENST00000358415.4	+	15	2072	c.1906G>A	c.(1906-1908)Gat>Aat	p.D636N	ITIH2_ENST00000379587.4_Missense_Mutation_p.D625N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	636					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGAGGCTGGGGATGAGCGCAT	0.607																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1906-1908)Gat>Aat		inter-alpha-trypsin inhibitor heavy chain 2							62.0	54.0	57.0					10																	7777003		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7777003G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1906G>A	10.37:g.7777003G>A	ENSP00000351190:p.Asp636Asn					ITIH2_ENST00000379587.4_Missense_Mutation_p.D625N	p.D636N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			15	2072	+			636					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1906G>A	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885311	0.17540	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01665	4.7;4.7	5.53	3.34	0.38264	.	0.838296	0.11045	N	0.605693	T	0.02193	0.0068	L	0.45422	1.42	0.30780	N	0.74209	B	0.06786	0.001	B	0.09377	0.004	T	0.18681	-1.0329	10	0.18276	T	0.48	-21.063	10.6382	0.45577	0.2288:0.0:0.7712:0.0	.	636	P19823	ITIH2_HUMAN	N	636;625	ENSP00000351190:D636N;ENSP00000368906:D625N	ENSP00000351190:D636N	D	+	1	0	ITIH2	7817009	0.989000	0.36119	0.967000	0.41034	0.123000	0.20343	1.916000	0.39986	1.334000	0.45468	0.549000	0.68633	GAT		0.607	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		16	31	0	0	0	1	0	16	31				
C8B	732	broad.mit.edu	37	1	57415395	57415395	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:57415395C>G	ENST00000371237.4	-	6	763	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	C8B_ENST00000535057.1_Missense_Mutation_p.E171Q|C8B_ENST00000543257.1_Missense_Mutation_p.E181Q	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	233	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GATTCATACTCTTTTAATATG	0.328																																						ENST00000543257.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(541-543)Gag>Cag		complement component 8, beta polypeptide							66.0	65.0	65.0					1																	57415395		2202	4299	6501	SO:0001583	missense	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57415395C>G	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.697G>C	1.37:g.57415395C>G	ENSP00000360281:p.Glu233Gln					C8B_ENST00000535057.1_Missense_Mutation_p.E171Q|C8B_ENST00000371237.4_Missense_Mutation_p.E233Q	p.E181Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			7	1107	-			233			MACPF.		A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	c.541G>C	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	C	9.805	1.181483	0.21787	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.31510	1.83;1.49;1.49	5.19	4.28	0.50868	Membrane attack complex component/perforin (MACPF) domain (1);	0.161260	0.53938	D	0.000045	T	0.45975	0.1369	M	0.78916	2.43	0.45962	D	0.998787	D;D;P	0.57257	0.963;0.979;0.895	P;P;B	0.52957	0.714;0.714;0.368	T	0.45920	-0.9228	10	0.28530	T	0.3	-14.6632	14.0087	0.64481	0.0:0.9264:0.0:0.0736	.	181;171;233	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	Q	233;181;171	ENSP00000360281:E233Q;ENSP00000442548:E181Q;ENSP00000440113:E171Q	ENSP00000360281:E233Q	E	-	1	0	C8B	57187983	0.999000	0.42202	0.775000	0.31657	0.023000	0.10783	4.268000	0.58883	1.324000	0.45282	0.591000	0.81541	GAG		0.328	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			10	13	0	0	0	1	0	10	13				
MED12	9968	broad.mit.edu	37	X	70349586	70349586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349586C>T	ENST00000374080.3	+	27	3780	c.3748C>T	c.(3748-3750)Cca>Tca	p.P1250S	MED12_ENST00000374102.1_Missense_Mutation_p.P1250S|MED12_ENST00000333646.6_Missense_Mutation_p.P1250S			Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAAGAACTTCCAGAGGAGGA	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3748-3750)Cca>Tca		mediator complex subunit 12							37.0	43.0	41.0					X																	70349586		2135	4223	6358	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349586C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3748C>T	X.37:g.70349586C>T	ENSP00000363193:p.Pro1250Ser		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.P1250S|MED12_ENST00000374080.3_Missense_Mutation_p.P1250S	p.P1250S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			27	3947	+	Renal(35;0.156)		1250					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3748C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	3.895	-0.023295	0.07634	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.54866	0.55;0.55;0.55;0.56	5.38	5.38	0.77491	.	0.337402	0.32473	N	0.006058	T	0.18087	0.0434	N	0.01352	-0.895	0.30441	N	0.776222	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.001;0.004;0.001	T	0.29305	-1.0016	10	0.02654	T	1	-8.9276	6.8368	0.23941	0.2362:0.6735:0.0:0.0903	.	1250;1097;1250;1250	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	S	1250;1250;1250;1250;1218	ENSP00000333125:P1250S;ENSP00000363215:P1250S;ENSP00000363193:P1250S;ENSP00000414203:P1218S	ENSP00000333125:P1250S	P	+	1	0	MED12	70266311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.782000	0.38654	2.401000	0.81631	0.468000	0.43344	CCA		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		5	10	0	0	0	1	0	5	10				
ATP11C	286410	broad.mit.edu	37	X	138819939	138819939	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:138819939G>A	ENST00000327569.3	-	28	3396				ATP11C_ENST00000359686.2_Missense_Mutation_p.S1105F|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000460773.1_Intron|ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000370543.1_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGCAGAAGAGGAAATTAAGTG	0.373																																						ENST00000359686.2																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(3313-3315)tCc>tTc		ATPase, class VI, type 11C							17.0	16.0	17.0					X																	138819939		875	1989	2864	SO:0001627	intron_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138819939G>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3297+135C>T	X.37:g.138819939G>A						ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000370543.1_Intron|ATP11C_ENST00000460773.1_Intron|ATP11C_ENST00000327569.3_Intron|ATP11C_ENST00000361648.2_Intron	p.S1105F			Q8NB49	AT11C_HUMAN			29	3412	-	Acute lymphoblastic leukemia(192;0.000127)		0					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.3314C>T	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117964	0.37339	.	.	ENSG00000101974	ENST00000450801;ENST00000359686	T;T	0.14640	2.49;3.29	5.72	5.72	0.89469	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.24550	N	0.994024	B	0.29988	0.264	B	0.38056	0.264	T	0.16394	-1.0404	8	0.87932	D	0	.	12.1389	0.53986	0.0:0.1676:0.8324:0.0	.	1105	Q8NB49-2	.	F	169;1105	ENSP00000391259:S169F;ENSP00000352715:S1105F	ENSP00000352715:S1105F	S	-	2	0	ATP11C	138647605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.806000	0.47947	2.549000	0.85964	0.600000	0.82982	TCC		0.373	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		4	10	0	0	0	1	0	4	10				
FAT2	2196	broad.mit.edu	37	5	150886943	150886943	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150886943C>A	ENST00000261800.5	-	22	12301	c.12289G>T	c.(12289-12291)Gcc>Tcc	p.A4097S	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4097					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGCATGGCTTGGGTGTCA	0.577																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(12289-12291)Gcc>Tcc		FAT atypical cadherin 2							120.0	118.0	119.0					5																	150886943		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150886943C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12289G>T	5.37:g.150886943C>A	ENSP00000261800:p.Ala4097Ser						p.A4097S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		22	12301	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	4097					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.12289G>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.104|0.104	-1.147269|-1.147269	0.01714|0.01714	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.69685|.	-0.42|.	5.07|5.07	-1.51|-1.51	0.08664|0.08664	.|.	0.709809|.	0.13057|.	N|.	0.417183|.	T|T	0.30070|0.30070	0.0753|0.0753	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.003;0.01|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.32079|0.32079	-0.9920|-0.9920	10|5	0.16420|.	T|.	0.52|.	.|.	6.2955|6.2955	0.21083|0.21083	0.0:0.3926:0.2211:0.3863|0.0:0.3926:0.2211:0.3863	.|.	4097;1202|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	S|I	4097|869	ENSP00000261800:A4097S|.	ENSP00000261800:A4097S|.	A|S	-|-	1|2	0|0	FAT2|FAT2	150867136|150867136	0.002000|0.002000	0.14202|0.14202	0.012000|0.012000	0.15200|0.15200	0.138000|0.138000	0.21146|0.21146	0.010000|0.010000	0.13242|0.13242	-0.179000|-0.179000	0.10654|0.10654	-0.165000|-0.165000	0.13383|0.13383	GCC|AGC		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		37	45	1	0	1.60099e-16	1	1.62927e-16	37	45				
ROR1	4919	broad.mit.edu	37	1	64608210	64608210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:64608210C>T	ENST00000371079.1	+	7	1426	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Missense_Mutation_p.R351C|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	351	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.R351C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACCGCCCTTCGTTTCCCAGA	0.547																																						ENST00000371079.1																			1	Substitution - Missense(1)	p.R351C(1)	skin(1)	breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(1051-1053)Cgt>Tgt		receptor tyrosine kinase-like orphan receptor 1							138.0	119.0	125.0					1																	64608210		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64608210C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1051C>T	1.37:g.64608210C>T	ENSP00000360120:p.Arg351Cys					ROR1_ENST00000371080.1_Missense_Mutation_p.R351C|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	p.R351C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			7	1426	+			351			Kringle.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1051C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814563	0.50527	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.68025	-0.3;0.01	6.08	4.02	0.46733	Kringle (4);Kringle-like fold (1);	0.000000	0.39475	N	0.001352	T	0.75488	0.3856	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.88	T	0.80420	-0.1390	10	0.59425	D	0.04	.	15.8634	0.79043	0.3092:0.6908:0.0:0.0	.	351;351	Q01973;Q66K77	ROR1_HUMAN;.	C	351;351;354	ENSP00000360121:R351C;ENSP00000360120:R351C	ENSP00000360120:R351C	R	+	1	0	ROR1	64380798	0.453000	0.25721	0.982000	0.44146	0.244000	0.25665	1.071000	0.30666	1.554000	0.49487	0.655000	0.94253	CGT		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		37	27	0	0	0	1	0	37	27				
KIF21A	55605	broad.mit.edu	37	12	39763621	39763621	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763621G>A	ENST00000361418.5	-	3	375	c.360C>T	c.(358-360)caC>caT	p.H120H	KIF21A_ENST00000541463.2_Silent_p.H120H|KIF21A_ENST00000395670.3_Silent_p.H120H|KIF21A_ENST00000544797.2_Silent_p.H120H|KIF21A_ENST00000361961.3_Silent_p.H120H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	120	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCTTAAAAAGGTGTTTAACAG	0.348																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(358-360)caC>caT		kinesin family member 21A							85.0	81.0	83.0					12																	39763621		2202	4298	6500	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763621G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.360C>T	12.37:g.39763621G>A						KIF21A_ENST00000541463.2_Silent_p.H120H|KIF21A_ENST00000361418.5_Silent_p.H120H|KIF21A_ENST00000361961.3_Silent_p.H120H|KIF21A_ENST00000544797.2_Silent_p.H120H	p.H120H			Q7Z4S6	KI21A_HUMAN			3	779	-		Lung NSC(34;0.179)|all_lung(34;0.213)	120			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.360C>T	CCDS53776.1																																																																																				0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		19	30	0	0	0	1	0	19	30				
POM121C	100101267	broad.mit.edu	37	7	75044200	75044200	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75044200C>T	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GAAGCATTTTCTCCTGGACTC	0.542																																						ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	155400							g.chr7:75044200C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044200C>T														0	3464	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.542	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		16	38	0	0	0	1	0	16	38				
ACTN1	87	broad.mit.edu	37	14	69343912	69343912	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:69343912G>T	ENST00000193403.6	-	20	2790	c.2407C>A	c.(2407-2409)Cgc>Agc	p.R803S	ACTN1_ENST00000438964.2_Missense_Mutation_p.R798S|ACTN1_ENST00000394419.4_Missense_Mutation_p.R825S|ACTN1_ENST00000538545.2_Missense_Mutation_p.R798S|ACTN1_ENST00000376839.3_Missense_Mutation_p.R733S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	803	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCCCCAGGCGGTTGGGGTCC	0.557																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2407-2409)Cgc>Agc		actinin, alpha 1							89.0	75.0	80.0					14																	69343912		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69343912G>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2407C>A	14.37:g.69343912G>T	ENSP00000193403:p.Arg803Ser					ACTN1_ENST00000438964.2_Missense_Mutation_p.R798S|ACTN1_ENST00000538545.2_Missense_Mutation_p.R798S|ACTN1_ENST00000376839.3_Missense_Mutation_p.R733S|ACTN1_ENST00000394419.4_Missense_Mutation_p.R825S	p.R803S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	20	2790	-			803			EF-hand 2.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.2407C>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089350	0.55968	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545	T;T;T;T;T	0.79454	1.55;-1.27;-0.0;-0.0;1.98	4.99	4.99	0.66335	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	N	0.19112	0.55	0.58432	D	0.999999	B;B;B;B	0.17038	0.012;0.02;0.001;0.004	B;B;B;B	0.31191	0.054;0.125;0.008;0.015	T	0.61700	-0.7009	10	0.30078	T	0.28	.	13.4326	0.61064	0.0:0.0:0.8433:0.1567	.	798;825;803;445	P12814-2;Q1HE25;P12814;B4DFY0	.;.;ACTN1_HUMAN;.	S	803;825;798;733;798	ENSP00000193403:R803S;ENSP00000377941:R825S;ENSP00000414272:R798S;ENSP00000366035:R733S;ENSP00000439828:R798S	ENSP00000193403:R803S	R	-	1	0	ACTN1	68413665	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.764000	0.47613	2.592000	0.87571	0.655000	0.94253	CGC		0.557	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		19	47	1	0	3.62473e-10	1	3.65979e-10	19	47				
PPIF	10105	broad.mit.edu	37	10	81113532	81113532	+	Silent	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:81113532T>A	ENST00000225174.3	+	6	629	c.558T>A	c.(556-558)tcT>tcA	p.S186S	PPIF_ENST00000394579.3_3'UTR	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	186	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	AAATAGAATCTTTCGGCTCTA	0.537																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(556-558)tcT>tcA		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						171.0	145.0	154.0					10																	81113532		2203	4300	6503	SO:0001819	synonymous_variant	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81113532T>A	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.558T>A	10.37:g.81113532T>A						PPIF_ENST00000394579.3_3'UTR	p.S186S	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		6	629	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		186			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Silent	SNP	ENST00000225174.3	37	c.558T>A	CCDS7358.1																																																																																				0.537	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		35	39	0	0	0	1	0	35	39				
SVEP1	79987	broad.mit.edu	37	9	113168896	113168896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:113168896C>T	ENST00000401783.2	-	38	9320	c.8984G>A	c.(8983-8985)tGg>tAg	p.W2995*	SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W921*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2972*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2995	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTGCCACTCCAGGAGCCATT	0.473																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8983-8985)tGg>tAg		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							46.0	49.0	48.0					9																	113168896		1909	4113	6022	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168896C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8984G>A	9.37:g.113168896C>T	ENSP00000384917:p.Trp2995*					SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2972*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W921*	p.W2995*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9320	-			2995			Sushi 26.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.8984G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	52	19.799992	0.99923	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5292	0.95222	0.0:1.0:0.0:0.0	.	.	.	.	X	2995;2972;921	.	ENSP00000297826:W921X	W	-	2	0	SVEP1	112208717	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.624000	0.83124	2.625000	0.88918	0.591000	0.81541	TGG		0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				25	17	0	0	0	1	0	25	17				
RBKS	64080	broad.mit.edu	37	2	28004519	28004519	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:28004519T>G	ENST00000302188.3	-	8	1684	c.932A>C	c.(931-933)tAc>tCc	p.Y311S	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	311					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TTTGTAAGGGTAAGATGACTG	0.433																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(931-933)tAc>tCc		ribokinase							123.0	123.0	123.0					2																	28004519		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28004519T>G	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.932A>C	2.37:g.28004519T>G	ENSP00000306817:p.Tyr311Ser					AC110084.1_ENST00000601759.1_Intron	p.Y311S	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			8	1684	-	Acute lymphoblastic leukemia(172;0.155)		311					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.932A>C	CCDS1762.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163784	0.57476	.	.	ENSG00000171174	ENST00000302188	T	0.75367	-0.93	5.76	3.04	0.35103	Carbohydrate/purine kinase (1);	0.225469	0.46442	D	0.000287	D	0.84570	0.5501	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85726	0.1328	10	0.72032	D	0.01	-7.0178	12.0375	0.53433	0.242:0.0:0.0:0.758	.	311	Q9H477	RBSK_HUMAN	S	311	ENSP00000306817:Y311S	ENSP00000306817:Y311S	Y	-	2	0	RBKS	27858023	1.000000	0.71417	0.957000	0.39632	0.661000	0.39034	2.499000	0.45372	0.964000	0.38108	0.533000	0.62120	TAC		0.433	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		45	52	0	0	0	1	0	45	52				
BCKDK	10295	broad.mit.edu	37	16	31120611	31120611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:31120611C>T	ENST00000394951.1	+	3	690	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	BCKDK_ENST00000219794.6_Missense_Mutation_p.P23S|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.P23S|BCKDK_ENST00000394950.3_Missense_Mutation_p.P23S			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	23					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						CCTCCTGGGACCCGCACTCGC	0.692																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.(67-69)Ccc>Tcc		branched chain ketoacid dehydrogenase kinase							11.0	13.0	12.0					16																	31120611		2181	4283	6464	SO:0001583	missense	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31120611C>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.67C>T	16.37:g.31120611C>T	ENSP00000378405:p.Pro23Ser					BCKDK_ENST00000287507.3_Missense_Mutation_p.P23S|BCKDK_ENST00000219794.6_Missense_Mutation_p.P23S|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Missense_Mutation_p.P23S	p.P23S			O14874	BCKD_HUMAN			3	690	+			23					A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	ENST00000394951.1	37	c.67C>T	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	C	8.250	0.808736	0.16467	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.53640	0.63;0.63;0.62;0.61	5.08	-4.19	0.03835	.	0.501439	0.23688	N	0.045550	T	0.13072	0.0317	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31194	-0.9952	10	0.02654	T	1	0.0932	3.5721	0.07921	0.1255:0.1735:0.1242:0.5769	.	23;23	Q96G95;O14874	.;BCKD_HUMAN	S	23	ENSP00000378405:P23S;ENSP00000219794:P23S;ENSP00000378404:P23S;ENSP00000287507:P23S	ENSP00000219794:P23S	P	+	1	0	BCKDK	31028112	0.008000	0.16893	0.023000	0.16930	0.001000	0.01503	0.167000	0.16602	-0.321000	0.08627	-0.895000	0.02911	CCC		0.692	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881		8	11	0	0	0	1	0	8	11				
SLC27A1	376497	broad.mit.edu	37	19	17597622	17597622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17597622G>A	ENST00000252595.7	+	2	515	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E140K|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	140					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCCGGCCGGAGTTCGTGGG	0.711																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(418-420)Gag>Aag		solute carrier family 27 (fatty acid transporter), member 1							15.0	17.0	17.0					19																	17597622		2189	4281	6470	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17597622G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.418G>A	19.37:g.17597622G>A	ENSP00000252595:p.Glu140Lys					SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E140K	p.E140K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			2	515	+			140					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.418G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355894	0.82243	.	.	ENSG00000130304	ENST00000442725;ENST00000252595;ENST00000300969	T;T	0.55588	0.51;0.51	4.92	4.92	0.64577	AMP-dependent synthetase/ligase (1);	0.133026	0.48286	D	0.000181	T	0.78489	0.4291	H	0.94542	3.55	0.37616	D	0.921109	P	0.51933	0.949	D	0.62955	0.909	D	0.86242	0.1644	10	0.56958	D	0.05	.	15.6336	0.76933	0.0:0.0:1.0:0.0	.	140	Q6PCB7	S27A1_HUMAN	K	140;140;2	ENSP00000413424:E140K;ENSP00000252595:E140K	ENSP00000252595:E140K	E	+	1	0	SLC27A1	17458622	0.543000	0.26434	0.938000	0.37757	0.960000	0.62799	0.825000	0.27393	2.287000	0.76781	0.561000	0.74099	GAG		0.711	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		6	9	0	0	0	1	0	6	9				
RGS11	8786	broad.mit.edu	37	16	320798	320798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:320798C>T	ENST00000397770.3	-	14	1029	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.E317K|RGS11_ENST00000359740.5_Missense_Mutation_p.E327K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	338	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TATCGAAGCTCCTCACATGCC	0.657																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(1012-1014)Gag>Aag		regulator of G-protein signaling 11							27.0	23.0	24.0					16																	320798		2202	4297	6499	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:320798C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1012G>A	16.37:g.320798C>T	ENSP00000380876:p.Glu338Lys					RGS11_ENST00000359740.5_Missense_Mutation_p.E327K|RGS11_ENST00000316163.5_Missense_Mutation_p.E317K|ARHGDIG_ENST00000464609.1_Intron	p.E338K			O94810	RGS11_HUMAN			14	1029	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	338			RGS.		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.1012G>A	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648208	0.67358	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.02050	4.48;4.48;4.48	4.72	3.74	0.42951	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.166485	0.52532	D	0.000068	T	0.06508	0.0167	L	0.58354	1.805	0.80722	D	1	P;P;P	0.48162	0.906;0.871;0.871	P;P;P	0.51550	0.641;0.673;0.673	T	0.12656	-1.0539	10	0.72032	D	0.01	-24.3934	14.0354	0.64642	0.0:0.8478:0.1522:0.0	.	327;338;338	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	K	338;317;327	ENSP00000380876:E338K;ENSP00000319069:E317K;ENSP00000352778:E327K	ENSP00000319069:E317K	E	-	1	0	RGS11	260799	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.878000	0.56130	0.940000	0.37473	0.448000	0.29417	GAG		0.657	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			9	22	0	0	0	1	0	9	22				
TTN	7273	broad.mit.edu	37	2	179614852	179614852	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179614852G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P4092L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_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)			GTCTCCAGAGGGAGGAACTGG	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.(12274-12276)cCc>cTc		titin							80.0	76.0	77.0					2																	179614852		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614852G>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+2998C>T	2.37:g.179614852G>A						TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.P4092L	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	12497	-			3468					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.12275C>T		.	.	.	.	.	.	.	.	.	.	G	12.70	2.015974	0.35606	.	.	ENSG00000155657	ENST00000360870	T	0.61859	0.07	5.54	4.66	0.58398	.	.	.	.	.	T	0.44329	0.1288	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37502	-0.9703	9	0.59425	D	0.04	.	12.7338	0.57212	0.0772:0.0:0.9228:0.0	.	4092	Q8WZ42-6	.	L	4092	ENSP00000354117:P4092L	ENSP00000354117:P4092L	P	-	2	0	TTN	179323097	0.998000	0.40836	0.984000	0.44739	0.099000	0.18886	0.751000	0.26348	1.485000	0.48380	0.655000	0.94253	CCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	49	0	0	0	1	0	27	49				
MTMR3	8897	broad.mit.edu	37	22	30416011	30416011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416011C>T	ENST00000401950.2	+	17	2705	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	MTMR3_ENST00000333027.3_Missense_Mutation_p.S788F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S652F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S788F|MTMR3_ENST00000406629.1_Missense_Mutation_p.S788F|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	788					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATTCCCTGGAGGTC	0.532																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2362-2364)tCc>tTc		myotubularin related protein 3							71.0	76.0	75.0					22																	30416011		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416011C>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2363C>T	22.37:g.30416011C>T	ENSP00000384651:p.Ser788Phe					MTMR3_ENST00000401950.2_Missense_Mutation_p.S788F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S788F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S788F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S652F	p.S788F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2691	+			788					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2363C>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	0.330	-0.956848	0.02267	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92965	-2.95;-2.93;-3.14;-2.97;-2.93	4.61	-2.52	0.06346	.	6.861160	0.00166	N	0.000000	D	0.83308	0.5226	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23806	0.091;0.0;0.091	B;B;B	0.15870	0.014;0.0;0.014	T	0.70934	-0.4737	10	0.51188	T	0.08	.	2.1287	0.03745	0.1115:0.1891:0.3156:0.3838	.	788;788;788	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	788;788;652;788;788	ENSP00000384651:S788F;ENSP00000331649:S788F;ENSP00000318070:S652F;ENSP00000307271:S788F;ENSP00000384077:S788F	ENSP00000318070:S652F	S	+	2	0	MTMR3	28746011	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.228000	0.09114	-0.204000	0.10235	-0.448000	0.05591	TCC		0.532	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		38	54	0	0	0	1	0	38	54				
EBF1	1879	broad.mit.edu	37	5	158139297	158139297	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:158139297G>A	ENST00000313708.6	-	14	1696	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	472	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P472T(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTGCTCGGCACGTACCCG	0.597			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Missense(1)	p.P472T(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1414-1416)Ccg>Tcg		early B-cell factor 1							116.0	87.0	97.0					5																	158139297		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158139297G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1414C>T	5.37:g.158139297G>A	ENSP00000322898:p.Pro472Ser					EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441S|EBF1_ENST00000518836.1_5'UTR	p.P472S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1696	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	472			Pro/Ser/Thr-rich.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1414C>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.492048	0.44352	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	T;T	0.42131	0.98;0.98	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.28649	0.875	0.80722	D	1	B;P;B;B	0.38677	0.016;0.642;0.002;0.004	B;B;B;B	0.35770	0.018;0.21;0.009;0.02	T	0.09357	-1.0678	10	0.06891	T	0.86	-5.1502	18.1731	0.89753	0.0:0.0:1.0:0.0	.	472;459;472;441	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	S	472;472;441	ENSP00000322898:P472S;ENSP00000370029:P441S	ENSP00000322898:P472S	P	-	1	0	EBF1	158071875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.906000	0.87423	2.357000	0.79964	0.650000	0.86243	CCG		0.597	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		8	15	0	0	0	1	0	8	15				
TTN	7273	broad.mit.edu	37	2	179499246	179499246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179499246C>T	ENST00000591111.1	-	180	37563	c.37339G>A	c.(37339-37341)Gga>Aga	p.G12447R	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5215R|TTN_ENST00000342992.6_Missense_Mutation_p.G11520R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G14088R|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5148R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5023R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12447					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)			ATATCAGGTCCTTTGGACCAT	0.408																																						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.(42262-42264)Gga>Aga		titin							87.0	89.0	88.0					2																	179499246		1872	4119	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179499246C>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.37339G>A	2.37:g.179499246C>T	ENSP00000465570:p.Gly12447Arg					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11520R|TTN_ENST00000591111.1_Missense_Mutation_p.G12447R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5148R|TTN_ENST00000342175.6_Missense_Mutation_p.G5215R|TTN_ENST00000460472.2_Missense_Mutation_p.G5023R|TTN-AS1_ENST00000585451.1_RNA	p.G14088R	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)		230	42486	-			12447			Fibronectin type-III 1.		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.42262G>A		.	.	.	.	.	.	.	.	.	.	C	17.70	3.454735	0.63290	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70482	0.3229	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.992;0.992;0.995	T	0.71836	-0.4472	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5023;5148;5215;12447	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	11520;5023;5215;5148;5023	ENSP00000343764:G11520R;ENSP00000434586:G5023R;ENSP00000340554:G5215R;ENSP00000352154:G5148R	ENSP00000340554:G5215R	G	-	1	0	TTN	179207491	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GGA		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	59	0	0	0	1	0	39	59				
SERPING1	710	broad.mit.edu	37	11	57381961	57381961	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:57381961C>T	ENST00000278407.4	+	8	1637	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000403558.1_Silent_p.V513V|SERPING1_ENST00000378323.4_Silent_p.V475V	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	470					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCCTGCTGGTCTTTGAAGTGC	0.612																																						ENST00000403558.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						c.(1537-1539)gtC>gtT		serpin peptidase inhibitor, clade G (C1 inhibitor), member 1							44.0	43.0	43.0					11																	57381961		2201	4296	6497	SO:0001819	synonymous_variant	710				blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	g.chr11:57381961C>T	X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1410C>T	11.37:g.57381961C>T						SERPING1_ENST00000278407.4_Silent_p.V470V|SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000378323.4_Silent_p.V475V	p.V513V	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN			7	1905	+			470					A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	ENST00000278407.4	37	c.1539C>T	CCDS7962.1																																																																																				0.612	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062		30	32	0	0	0	1	0	30	32				
ATP13A1	57130	broad.mit.edu	37	19	19765410	19765410	+	Silent	SNP	G	G	A	rs371649386		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19765410G>A	ENST00000357324.6	-	13	1781	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L	ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.L467L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	585						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTCACCCACGAGGGTGCCGT	0.662																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1753-1755)ctC>ctT		ATPase type 13A1		G		1,4405	2.1+/-5.4	0,1,2202	83.0	71.0	75.0		1755	-10.4	0.8	19		75	0,8600		0,0,4300	no	coding-synonymous	ATP13A1	NM_020410.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		585/1205	19765410	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19765410G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.1755C>T	19.37:g.19765410G>A						ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.L467L	p.L585L	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			13	1781	-			585					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.1755C>T	CCDS32970.2																																																																																				0.662	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		21	35	0	0	0	1	0	21	35				
PAX2	5076	broad.mit.edu	37	10	102566317	102566317	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:102566317C>T	ENST00000428433.1	+	7	1366	c.816C>T	c.(814-816)tcC>tcT	p.S272S	PAX2_ENST00000361791.3_Silent_p.S249S|PAX2_ENST00000556085.1_Silent_p.S248S|PAX2_ENST00000370296.2_Silent_p.S272S|PAX2_ENST00000355243.3_Silent_p.S249S|PAX2_ENST00000553492.1_3'UTR	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	272					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCGTCCTTCCTACCCTGACG	0.552																																						ENST00000370296.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(814-816)tcC>tcT		paired box 2							235.0	217.0	223.0					10																	102566317		2203	4300	6503	SO:0001819	synonymous_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102566317C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.816C>T	10.37:g.102566317C>T						PAX2_ENST00000355243.3_Silent_p.S249S|PAX2_ENST00000556085.1_Silent_p.S248S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Silent_p.S249S|PAX2_ENST00000428433.1_Silent_p.S272S	p.S272S			Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	7	1366	+		Colorectal(252;0.234)	272					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Silent	SNP	ENST00000428433.1	37	c.816C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680207	0.29872	.	.	ENSG00000075891	ENST00000553492	.	.	.	5.06	2.16	0.27623	.	.	.	.	.	T	0.46073	0.1374	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29397	-1.0013	4	.	.	.	.	3.3106	0.07015	0.0:0.454:0.2018:0.3443	.	.	.	.	L	71	.	.	P	+	2	0	PAX2	102556307	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.098000	0.31000	0.507000	0.28148	0.462000	0.41574	CCT		0.552	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				81	155	0	0	0	1	0	81	155				
MYH1	4619	broad.mit.edu	37	17	10408142	10408142	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10408142T>C	ENST00000226207.5	-	22	2770	c.2676A>G	c.(2674-2676)caA>caG	p.Q892Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	892					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAACCTGGAGTTGCAAGTCAT	0.408																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(2674-2676)caA>caG		myosin, heavy chain 1, skeletal muscle, adult							90.0	77.0	82.0					17																	10408142		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10408142T>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2676A>G	17.37:g.10408142T>C						CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q892Q	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			22	2770	-			892					Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.2676A>G	CCDS11155.1																																																																																				0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		15	25	0	0	0	1	0	15	25				
NIT2	56954	broad.mit.edu	37	3	100058674	100058674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:100058674C>T	ENST00000394140.4	+	3	233	c.142C>T	c.(142-144)Cca>Tca	p.P48S		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	48	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTTTAATTCTCCATATGGAGC	0.373																																						ENST00000394140.3																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(142-144)Cca>Tca		nitrilase family, member 2							72.0	71.0	71.0					3																	100058674		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100058674C>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.142C>T	3.37:g.100058674C>T	ENSP00000377696:p.Pro48Ser						p.P48S	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			3	233	+			48			CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.142C>T	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.483451|4.483451	0.84854|0.84854	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|D	0.87650|0.87491	-2.28|-2.26	5.34|5.34	5.34|5.34	0.76211|0.76211	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93756|0.93756	0.8004|0.8004	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.987;1.0|.	P;D|.	0.78314|.	0.835;0.991|.	D|D	0.93726|0.93726	0.7037|0.7037	10|7	0.87932|0.52906	D|T	0|0.07	-18.507|-18.507	19.3973|19.3973	0.94612|0.94612	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	48;48|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	S|F	48|141	ENSP00000377696:P48S|ENSP00000419189:S141F	ENSP00000377696:P48S|ENSP00000419189:S141F	P|S	+|+	1|2	0|0	NIT2|NIT2	101541364|101541364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	7.217000|7.217000	0.77982|0.77982	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.373	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		7	26	0	0	0	1	0	7	26				
RPTOR	57521	broad.mit.edu	37	17	78899197	78899197	+	Missense_Mutation	SNP	G	G	A	rs200090551		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:78899197G>A	ENST00000306801.3	+	24	3198	c.2836G>A	c.(2836-2838)Gga>Aga	p.G946R	RPTOR_ENST00000544334.2_Missense_Mutation_p.G788R|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	946					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGATGCTGCTGGACACAAAAG	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17744	0.0		0.0	False		,,,				2504	0.0					ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2836-2838)Gga>Aga		regulatory associated protein of MTOR, complex 1							65.0	60.0	61.0					17																	78899197		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78899197G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2836G>A	17.37:g.78899197G>A	ENSP00000307272:p.Gly946Arg					RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788R	p.G946R	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			24	3198	+			946					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2836G>A	CCDS11773.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.41	1.629935	0.28978	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.46063	0.9;0.88	4.29	4.29	0.51040	.	0.069415	0.56097	D	0.000026	T	0.43389	0.1245	L	0.46157	1.445	0.80722	D	1	P;B	0.45176	0.852;0.167	P;B	0.46975	0.533;0.085	T	0.23261	-1.0193	10	0.17369	T	0.5	.	17.1135	0.86682	0.0:0.0:1.0:0.0	.	788;946	F5H7J5;Q8N122	.;RPTOR_HUMAN	R	946;788	ENSP00000307272:G946R;ENSP00000442479:G788R	ENSP00000307272:G946R	G	+	1	0	RPTOR	76513792	1.000000	0.71417	0.565000	0.28409	0.237000	0.25408	8.188000	0.89710	2.095000	0.63458	0.655000	0.94253	GGA		0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		19	31	0	0	0	1	0	19	31				
DLL3	10683	broad.mit.edu	37	19	39994744	39994744	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39994744G>A	ENST00000205143.4	+	5	693	c.686G>A	c.(685-687)gGc>gAc	p.G229D	DLL3_ENST00000356433.5_Missense_Mutation_p.G229D	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	229	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTGAGCATGGCTTCTGTGAA	0.642																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(685-687)gGc>gAc		delta-like 3 (Drosophila)							73.0	69.0	71.0					19																	39994744		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994744G>A	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.686G>A	19.37:g.39994744G>A	ENSP00000205143:p.Gly229Asp					DLL3_ENST00000356433.5_Missense_Mutation_p.G229D	p.G229D	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	693	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		229			EGF-like 1.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.686G>A	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593852	0.66219	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.92048	-2.89;-2.96	4.87	4.87	0.63330	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.236393	0.30293	N	0.009955	D	0.97105	0.9054	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97894	1.0299	9	.	.	.	.	17.3114	0.87211	0.0:0.0:1.0:0.0	.	229;229;229	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	D	229	ENSP00000348810:G229D;ENSP00000205143:G229D	.	G	+	2	0	DLL3	44686584	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	6.703000	0.74633	2.698000	0.92095	0.561000	0.74099	GGC		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			18	40	0	0	0	1	0	18	40				
WNT7A	7476	broad.mit.edu	37	3	13860791	13860791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:13860791C>T	ENST00000285018.4	-	4	1004	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	234					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGAACGGCCTCGTTGTACTTG	0.607																																						ENST00000285018.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(700-702)Gag>Aag		wingless-type MMTV integration site family, member 7A							110.0	102.0	105.0					3																	13860791		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13860791C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.700G>A	3.37:g.13860791C>T	ENSP00000285018:p.Glu234Lys						p.E234K	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN			4	1004	-			234					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.700G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	12.79	2.043548	0.36085	.	.	ENSG00000154764	ENST00000285018	T	0.75154	-0.91	4.18	4.18	0.49190	.	0.281036	0.39407	N	0.001372	T	0.54078	0.1836	N	0.03084	-0.415	0.46564	D	0.999102	B	0.06786	0.001	B	0.06405	0.002	T	0.52555	-0.8560	10	0.41790	T	0.15	.	16.889	0.86082	0.0:1.0:0.0:0.0	.	234	O00755	WNT7A_HUMAN	K	234	ENSP00000285018:E234K	ENSP00000285018:E234K	E	-	1	0	WNT7A	13835792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.208000	0.58486	2.048000	0.60808	0.558000	0.71614	GAG		0.607	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		43	38	0	0	0	1	0	43	38				
EXD1	161829	broad.mit.edu	37	15	41476458	41476458	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:41476458C>T	ENST00000314992.5	-	10	1406	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	EXD1_ENST00000458580.2_Missense_Mutation_p.D464N	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	406							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACTGGAATCCTCACTGGTT	0.418																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.(1216-1218)Gat>Aat		exonuclease 3'-5' domain containing 1							166.0	167.0	167.0					15																	41476458		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476458C>T	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1216G>A	15.37:g.41476458C>T	ENSP00000321029:p.Asp406Asn					EXD1_ENST00000458580.2_Missense_Mutation_p.D464N	p.D406N	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			10	1406	-			406					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.1216G>A	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728240	0.48833	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.53640	0.61;0.65	5.26	1.31	0.21738	.	1.336290	0.04689	N	0.413788	T	0.48132	0.1483	M	0.65975	2.015	0.09310	N	1	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.11329	0.001;0.001;0.006	T	0.41215	-0.9521	10	0.56958	D	0.05	-21.8179	7.7224	0.28740	0.0:0.588:0.0:0.412	.	464;406;204	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	N	406;464	ENSP00000321029:D406N;ENSP00000415056:D464N	ENSP00000321029:D406N	D	-	1	0	EXD1	39263750	0.000000	0.05858	0.000000	0.03702	0.475000	0.33008	-0.340000	0.07821	0.167000	0.19631	0.655000	0.94253	GAT		0.418	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		56	104	0	0	0	1	0	56	104				
PNCK	139728	broad.mit.edu	37	X	152938047	152938047	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152938047C>T	ENST00000370150.1	-	3	352	c.174G>A	c.(172-174)gtG>gtA	p.V58V	PNCK_ENST00000447676.2_Silent_p.V141V|PNCK_ENST00000370142.1_Silent_p.V58V|PNCK_ENST00000370145.4_Silent_p.V75V|PNCK_ENST00000393831.2_Silent_p.V58V|PNCK_ENST00000340888.3_Silent_p.V58V|PNCK_ENST00000475172.1_5'UTR			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	58	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGTTCTCCACCAGGGCCT	0.682																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(172-174)gtG>gtA		pregnancy up-regulated nonubiquitous CaM kinase							54.0	55.0	54.0					X																	152938047		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938047C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.174G>A	X.37:g.152938047C>T						PNCK_ENST00000447676.2_Silent_p.V141V|PNCK_ENST00000370150.1_Silent_p.V58V|PNCK_ENST00000340888.3_Silent_p.V58V|PNCK_ENST00000370145.4_Silent_p.V75V|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.V58V	p.V58V	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			3	608	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		58			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.174G>A																																																																																					0.682	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		57	71	0	0	0	1	0	57	71				
PSMC6	5706	broad.mit.edu	37	14	53184987	53184987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:53184987G>A	ENST00000606149.1	+	9	648	c.632G>A	c.(631-633)aGt>aAt	p.S211N	PSMC6_ENST00000445930.2_Missense_Mutation_p.S225N	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATTGGTGAAAGTGCTCGTTTG	0.294																																						ENST00000445930.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19						c.(673-675)aGt>aAt		proteasome (prosome, macropain) 26S subunit, ATPase, 6							104.0	107.0	106.0					14																	53184987		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53184987G>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.632G>A	14.37:g.53184987G>A	ENSP00000475721:p.Ser211Asn					PSMC6_ENST00000606149.1_Missense_Mutation_p.S211N	p.S225N			P62333	PRS10_HUMAN			9	680	+	Breast(41;0.176)		211					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.674G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.100125	0.94197	.	.	ENSG00000100519	ENST00000445930	D	0.94000	-3.33	5.03	5.03	0.67393	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96505	0.9374	10	0.72032	D	0.01	.	18.7228	0.91702	0.0:0.0:1.0:0.0	.	211	P62333	PRS10_HUMAN	N	225	ENSP00000401802:S225N	ENSP00000401802:S225N	S	+	2	0	PSMC6	52254737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.435000	0.97529	2.503000	0.84419	0.591000	0.81541	AGT		0.294	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		35	43	0	0	0	1	0	35	43				
WNK2	65268	broad.mit.edu	37	9	96055202	96055202	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96055202C>T	ENST00000297954.4	+	23	5566	c.5566C>T	c.(5566-5568)Ccg>Tcg	p.P1856S	WNK2_ENST00000427277.2_Missense_Mutation_p.P1431S|WNK2_ENST00000395477.2_Missense_Mutation_p.P1819S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1468S|WNK2_ENST00000356055.3_Missense_Mutation_p.P183S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1856					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCGAGACCCCCGGTGCAGAA	0.726																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(5566-5568)Ccg>Tcg		WNK lysine deficient protein kinase 2							9.0	12.0	11.0					9																	96055202		2186	4285	6471	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055202C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5566C>T	9.37:g.96055202C>T	ENSP00000297954:p.Pro1856Ser					WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1431S|WNK2_ENST00000395477.2_Missense_Mutation_p.P1819S|WNK2_ENST00000349097.3_Missense_Mutation_p.P1468S|WNK2_ENST00000356055.3_Missense_Mutation_p.P183S	p.P1856S			Q9Y3S1	WNK2_HUMAN			23	5566	+			1856					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5566C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.765|5.765	0.325588|0.325588	0.10900|0.10900	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	T|T;T;T;T;D	0.62788|0.82619	0.0|-0.36;-0.34;0.26;0.26;-1.63	5.21|5.21	0.54|0.54	0.17163|0.17163	.|.	0.490050|0.490050	0.22947|0.22947	N|N	0.053709|0.053709	T|T	0.56615|0.56615	0.1997|0.1997	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.31968	.|0.104;0.349;0.011;0.019;0.15	.|B;B;B;B;B	.|0.34824	.|0.19;0.1;0.003;0.007;0.046	T|T	0.53690|0.53690	-0.8403|-0.8403	8|10	0.66056|0.25106	D|T	0.02|0.35	.|.	6.4459|6.4459	0.21875|0.21875	0.1286:0.5964:0.0:0.275|0.1286:0.5964:0.0:0.275	.|.	.|1819;1814;1422;1819;1856	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	L|S	1422|1856;1819;1468;1431;183	ENSP00000414622:P1422L|ENSP00000297954:P1856S;ENSP00000378860:P1819S;ENSP00000297876:P1468S;ENSP00000411181:P1431S;ENSP00000348347:P183S	ENSP00000414622:P1422L|ENSP00000297954:P1856S	P|P	+|+	2|1	0|0	WNK2|WNK2	95095023|95095023	0.000000|0.000000	0.05858|0.05858	0.030000|0.030000	0.17652|0.17652	0.037000|0.037000	0.13140|0.13140	0.078000|0.078000	0.14761|0.14761	0.187000|0.187000	0.20147|0.20147	-0.320000|-0.320000	0.08662|0.08662	CCC|CCG		0.726	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		13	2	0	0	0	1	0	13	2				
HNRNPKP3	399881	broad.mit.edu	37	11	43284052	43284052	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:43284052C>T	ENST00000511537.1	-	0	883					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		TCCAGGTCTTCCTCTTCTGTC	0.493																																						ENST00000511537.1																			0																																																			399881							g.chr11:43284052C>T			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43284052C>T								NR_033868.1						0	883	-									RNA	SNP	ENST00000511537.1	37																																																																																						0.493	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		8	14	0	0	0	1	0	8	14				
REG1A	5967	broad.mit.edu	37	2	79349131	79349131	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:79349131G>A	ENST00000233735.1	+	4	304	c.201G>A	c.(199-201)atG>atA	p.M67I		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	67	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCCAGAACATGAATTCGGGCA	0.512																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(199-201)atG>atA		regenerating islet-derived 1 alpha							133.0	125.0	128.0					2																	79349131		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349131G>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.201G>A	2.37:g.79349131G>A	ENSP00000233735:p.Met67Ile						p.M67I	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			4	304	+			67			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.201G>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	9.394	1.076193	0.20227	.	.	ENSG00000115386	ENST00000233735	T	0.62364	0.03	3.51	0.339	0.15979	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.196337	0.24876	N	0.034897	T	0.42177	0.1191	L	0.43152	1.355	0.09310	N	1	B	0.33135	0.399	B	0.28011	0.085	T	0.13548	-1.0505	10	0.25751	T	0.34	.	3.3408	0.07118	0.2615:0.2213:0.5172:0.0	.	67	P05451	REG1A_HUMAN	I	67	ENSP00000233735:M67I	ENSP00000233735:M67I	M	+	3	0	REG1A	79202639	0.000000	0.05858	0.079000	0.20413	0.956000	0.61745	0.017000	0.13399	0.287000	0.22375	0.563000	0.77884	ATG		0.512	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		37	81	0	0	0	1	0	37	81				
SIK2	23235	broad.mit.edu	37	11	111592632	111592632	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:111592632C>T	ENST00000304987.3	+	13	2196	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	675					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACGGCAGAGCCTGGAGACCCA	0.577																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2023-2025)Ctg>Ttg		salt-inducible kinase 2							60.0	56.0	57.0					11																	111592632		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111592632C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2023C>T	11.37:g.111592632C>T							p.L675L	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			13	2196	+			675					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2023C>T	CCDS8347.1																																																																																				0.577	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		13	22	0	0	0	1	0	13	22				
IGF2R	3482	broad.mit.edu	37	6	160496887	160496887	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:160496887C>T	ENST00000356956.1	+	36	5323	c.5175C>T	c.(5173-5175)ggC>ggT	p.G1725G		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1725					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AGGATATCGGCCGGGTAGCAG	0.393																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5173-5175)ggC>ggT		insulin-like growth factor 2 receptor							131.0	121.0	124.0					6																	160496887		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160496887C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5175C>T	6.37:g.160496887C>T							p.G1725G	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	36	5323	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1725					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.5175C>T	CCDS5273.1																																																																																				0.393	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		41	10	0	0	0	1	0	41	10				
PDE1C	5137	broad.mit.edu	37	7	32209525	32209525	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:32209525C>A	ENST00000396193.1	-	3	773	c.180G>T	c.(178-180)ggG>ggT	p.G60G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCCCTGTGAGCCCATCGATGA	0.522																																						ENST00000396193.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(178-180)ggG>ggT		phosphodiesterase 1C, calmodulin-dependent 70kDa							264.0	224.0	236.0					7																	32209525		876	1991	2867	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209525C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.180G>T	7.37:g.32209525C>A							p.G60G	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	773	-			0					B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396193.1	37	c.180G>T	CCDS55100.1																																																																																				0.522	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			46	104	1	0	7.88023e-25	1	8.05379e-25	46	104				
PLK4	10733	broad.mit.edu	37	4	128811294	128811294	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:128811294C>T	ENST00000270861.5	+	7	2007	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	PLK4_ENST00000514379.1_Missense_Mutation_p.P537L|PLK4_ENST00000515069.1_Missense_Mutation_p.P500L|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000513090.1_Missense_Mutation_p.P546L|PLK4_ENST00000507249.1_Missense_Mutation_p.P544L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	578					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTATGGAGCCACCATGGGGT	0.418																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1732-1734)cCa>cTa		polo-like kinase 4							85.0	80.0	81.0					4																	128811294		2203	4300	6503	SO:0001583	missense	10733				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128811294C>T	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1733C>T	4.37:g.128811294C>T	ENSP00000270861:p.Pro578Leu					PLK4_ENST00000514379.1_Missense_Mutation_p.P537L|PLK4_ENST00000513090.1_Missense_Mutation_p.P546L|PLK4_ENST00000507249.1_Missense_Mutation_p.P544L|PLK4_ENST00000515069.1_Missense_Mutation_p.P500L	p.P578L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			7	2007	+			578					B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	c.1733C>T	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481324	0.44147	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.28	4.38	0.52667	.	0.415874	0.28156	N	0.016389	T	0.31104	0.0786	M	0.63428	1.95	0.42803	D	0.993939	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.005	T	0.22836	-1.0205	10	0.87932	D	0	0.0024	10.4881	0.44735	0.1493:0.7065:0.1442:0.0	.	546;578	O00444-2;O00444	.;PLK4_HUMAN	L	578;500;546;544;537	ENSP00000270861:P578L;ENSP00000421774:P500L;ENSP00000427554:P546L;ENSP00000423412:P544L;ENSP00000423582:P537L	ENSP00000270861:P578L	P	+	2	0	PLK4	129030744	0.498000	0.26075	0.736000	0.30914	0.804000	0.45430	1.028000	0.30128	2.465000	0.83290	0.491000	0.48974	CCA		0.418	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			9	38	0	0	0	1	0	9	38				
LRRIQ3	127255	broad.mit.edu	37	1	74492516	74492516	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:74492516G>A	ENST00000395089.1	-	7	1855	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P619L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	619								p.P619H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAGTCCATTGGGAACTTTAAA	0.289																																						ENST00000354431.4																			1	Substitution - Missense(1)	p.P619H(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1855-1857)cCc>cTc		leucine-rich repeats and IQ motif containing 3							117.0	107.0	110.0					1																	74492516		1818	4060	5878	SO:0001583	missense	127255							g.chr1:74492516G>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1856C>T	1.37:g.74492516G>A	ENSP00000378524:p.Pro619Leu					LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619L	p.P619L	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			8	2047	-			619					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1856C>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310557	0.23821	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.20598	2.06;2.06	4.39	0.766	0.18476	.	.	.	.	.	T	0.04543	0.0124	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.40997	-0.9533	9	0.87932	D	0	.	5.973	0.19363	0.4669:0.0:0.5331:0.0	.	619	A6PVS8	LRIQ3_HUMAN	L	619	ENSP00000378524:P619L;ENSP00000346414:P619L	ENSP00000346414:P619L	P	-	2	0	LRRIQ3	74265104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.159000	0.16442	0.143000	0.18926	0.655000	0.94253	CCC		0.289	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		7	22	0	0	0	1	0	7	22				
TPCN2	219931	broad.mit.edu	37	11	68830447	68830447	+	Silent	SNP	G	G	A	rs576860218	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68830447G>A	ENST00000294309.3	+	6	743	c.642G>A	c.(640-642)ccG>ccA	p.P214P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	214					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCGCTGCCGGAAATGGCCA	0.647													g|||	2	0.000399361	0.0	0.0014	5008	,	,		16754	0.0		0.0	False		,,,				2504	0.001					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(640-642)ccG>ccA		two pore segment channel 2							84.0	82.0	83.0					11																	68830447		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68830447G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.642G>A	11.37:g.68830447G>A						TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P	p.P214P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	743	+			214					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.642G>A	CCDS8189.1																																																																																				0.647	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		47	55	0	0	0	1	0	47	55				
CMC4	100272147	broad.mit.edu	37	X	154290193	154290193	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154290193C>T	ENST00000369484.3	-	3	810	c.132G>A	c.(130-132)aaG>aaA	p.K44K	CMC4_ENST00000369479.1_Silent_p.K44K	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	44					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											CAGATCTTCCCTTGGGATACT	0.438																																						ENST00000369484.3																			0											c.(130-132)aaG>aaA		C-x(9)-C motif containing 4							175.0	146.0	156.0					X																	154290193		2203	4300	6503	SO:0001819	synonymous_variant	100272147							g.chrX:154290193C>T		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.132G>A	X.37:g.154290193C>T						CMC4_ENST00000369479.1_Silent_p.K44K	p.K44K	NM_001018024.2	NP_001018024.1					3	810	-								Q5HYP9	Silent	SNP	ENST00000369484.3	37	c.132G>A	CCDS14764.1																																																																																				0.438	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2		53	97	0	0	0	1	0	53	97				
IGDCC3	9543	broad.mit.edu	37	15	65667545	65667545	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:65667545T>G	ENST00000327987.4	-	2	550	c.299A>C	c.(298-300)cAc>cCc	p.H100P		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	100	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCTGAAGTGACGGATCAT	0.607																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(298-300)cAc>cCc		immunoglobulin superfamily, DCC subclass, member 3							84.0	70.0	74.0					15																	65667545		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667545T>G	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.299A>C	15.37:g.65667545T>G	ENSP00000332773:p.His100Pro						p.H100P	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			2	550	-			100			Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.299A>C	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	7.526	0.657693	0.14645	.	.	ENSG00000174498	ENST00000327987	T	0.37915	1.17	5.63	1.84	0.25277	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.214322	0.37623	N	0.002016	T	0.18002	0.0432	N	0.17872	0.535	0.32301	N	0.565028	B	0.18166	0.026	B	0.23716	0.048	T	0.06303	-1.0834	10	0.32370	T	0.25	-17.0908	1.6544	0.02779	0.1298:0.2144:0.1341:0.5217	.	100	Q8IVU1	IGDC3_HUMAN	P	100	ENSP00000332773:H100P	ENSP00000332773:H100P	H	-	2	0	IGDCC3	63454598	0.174000	0.23070	0.989000	0.46669	0.311000	0.27955	0.167000	0.16602	0.977000	0.38444	-0.250000	0.11733	CAC		0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		21	40	0	0	0	1	0	21	40				
ZBED1	9189	broad.mit.edu	37	X	2407922	2407922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:2407922G>A	ENST00000381223.4	-	2	1042	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ZBED1_ENST00000381218.3_Missense_Mutation_p.S280F|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S280F	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	280					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCCAGCAGGGAGCACGCCTT	0.632																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(838-840)tCc>tTc		zinc finger, BED-type containing 1							126.0	113.0	117.0					X																	2407922		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407922G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.839C>T	X.37:g.2407922G>A	ENSP00000370621:p.Ser280Phe					ZBED1_ENST00000381218.3_Missense_Mutation_p.S280F|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S280F	p.S280F	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1042	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	280					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.839C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.493489	0.26774	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.24151	1.87;1.87;1.87	3.19	3.19	0.36642	Ribonuclease H-like (1);	0.479931	0.17871	N	0.159187	T	0.41305	0.1153	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.56343	0.796	T	0.25012	-1.0144	9	0.56958	D	0.05	-29.7698	13.9326	0.64006	0.0:0.0:1.0:0.0	.	280	O96006	ZBED1_HUMAN	F	280	ENSP00000370621:S280F;ENSP00000370620:S280F;ENSP00000370616:S280F	ENSP00000370616:S280F	S	-	2	0	ZBED1	2417922	1.000000	0.71417	0.310000	0.25168	0.057000	0.15508	3.734000	0.55037	1.232000	0.43678	0.515000	0.50301	TCC		0.632	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		68	124	0	0	0	1	0	68	124				
HSPG2	3339	broad.mit.edu	37	1	22206875	22206875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:22206875G>A	ENST00000374695.3	-	16	2255	c.2176C>T	c.(2176-2178)Cac>Tac	p.H726Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	726	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCCACACTGTGGGCACGGCCA	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2176-2178)Cac>Tac		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						67.0	57.0	60.0					1																	22206875		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22206875G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2176C>T	1.37:g.22206875G>A	ENSP00000363827:p.His726Tyr						p.H726Y	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	16	2255	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	726			Laminin IV type A 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2176C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	4.083	0.013377	0.07912	.	.	ENSG00000142798	ENST00000374695	T	0.35236	1.32	5.23	4.32	0.51571	Laminin B type IV (2);	0.000000	0.41712	D	0.000824	T	0.33789	0.0875	N	0.24115	0.695	0.27636	N	0.947885	D	0.63880	0.993	P	0.57620	0.824	T	0.10590	-1.0623	10	0.12103	T	0.63	.	9.7616	0.40534	0.0954:0.0:0.9046:0.0	.	726	P98160	PGBM_HUMAN	Y	726	ENSP00000363827:H726Y	ENSP00000363827:H726Y	H	-	1	0	HSPG2	22079462	0.995000	0.38212	0.998000	0.56505	0.415000	0.31203	2.346000	0.44027	1.224000	0.43551	-0.136000	0.14681	CAC		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	15	0	0	0	1	0	16	15				
LRRC10	376132	broad.mit.edu	37	12	70004470	70004470	+	Missense_Mutation	SNP	G	G	A	rs141358220		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:70004470G>A	ENST00000361484.3	-	1	472	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	50					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTCCCTGAAGGAGCACACGTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20495	0.0		0.001	False		,,,				2504	0.0					ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(148-150)tCc>tTc		leucine rich repeat containing 10		G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	59.0	50.0	53.0		149	5.6	1.0	12	dbSNP_134	53	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LRRC10	NM_201550.2	155	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	50/278	70004470	6,13000	2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004470G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.149C>T	12.37:g.70004470G>A	ENSP00000355166:p.Ser50Phe						p.S50F	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	472	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		50					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.149C>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651696	0.47362	2.27E-4	5.81E-4	ENSG00000198812	ENST00000361484	T	0.25579	1.79	5.62	5.62	0.85841	.	0.286592	0.39210	N	0.001437	T	0.32763	0.0840	L	0.56769	1.78	0.44055	D	0.996796	P	0.37955	0.612	B	0.37833	0.259	T	0.08953	-1.0697	10	0.62326	D	0.03	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	50	Q5BKY1	LRC10_HUMAN	F	50	ENSP00000355166:S50F	ENSP00000355166:S50F	S	-	2	0	LRRC10	68290737	1.000000	0.71417	0.993000	0.49108	0.448000	0.32197	6.222000	0.72249	2.811000	0.96726	0.555000	0.69702	TCC		0.592	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		14	29	0	0	0	1	0	14	29				
PPP1R13L	10848	broad.mit.edu	37	19	45900260	45900260	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45900260G>A	ENST00000418234.2	-	4	333	c.255C>T	c.(253-255)ccC>ccT	p.P85P	PPP1R13L_ENST00000360957.5_Silent_p.P85P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	85	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGCCTTCCGGGGGGACCCTC	0.682																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(253-255)ccC>ccT		protein phosphatase 1, regulatory subunit 13 like							9.0	14.0	13.0					19																	45900260		2079	4129	6208	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45900260G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.255C>T	19.37:g.45900260G>A						PPP1R13L_ENST00000360957.5_Silent_p.P85P	p.P85P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	333	-		all_neural(266;0.224)|Ovarian(192;0.231)	85			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.255C>T	CCDS33050.1																																																																																				0.682	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		6	13	0	0	0	1	0	6	13				
MMP27	64066	broad.mit.edu	37	11	102567175	102567175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:102567175G>A	ENST00000260229.4	-	6	920	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	277					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCACAGGCATGGGGTATAGTG	0.413																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(829-831)Cat>Tat		matrix metallopeptidase 27							177.0	183.0	181.0					11																	102567175		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102567175G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.829C>T	11.37:g.102567175G>A	ENSP00000260229:p.His277Tyr						p.H277Y	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	6	920	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	277					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.829C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	7.251	0.603331	0.14002	.	.	ENSG00000137675	ENST00000260229	T	0.13657	2.57	5.89	2.84	0.33178	Hemopexin/matrixin (2);	0.802333	0.11374	N	0.570613	T	0.06917	0.0176	N	0.22421	0.69	0.26167	N	0.979914	P	0.34934	0.476	B	0.22880	0.042	T	0.32079	-0.9920	10	0.66056	D	0.02	.	2.3555	0.04294	0.1535:0.108:0.4782:0.2603	.	277	Q9H306	MMP27_HUMAN	Y	277	ENSP00000260229:H277Y	ENSP00000260229:H277Y	H	-	1	0	MMP27	102072385	1.000000	0.71417	0.512000	0.27736	0.083000	0.17756	2.336000	0.43938	0.819000	0.34492	-0.229000	0.12294	CAT		0.413	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		28	52	0	0	0	1	0	28	52				
DLG5	9231	broad.mit.edu	37	10	79589166	79589166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:79589166G>A	ENST00000372391.2	-	12	2137	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F	DLG5_ENST00000372388.2_Missense_Mutation_p.S711F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	711	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCCACCCAGGGACTTCCTCCG	0.607																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2131-2133)tCc>tTc		discs, large homolog 5 (Drosophila)							188.0	154.0	165.0					10																	79589166		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589166G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2132C>T	10.37:g.79589166G>A	ENSP00000361467:p.Ser711Phe					DLG5_ENST00000372388.2_Missense_Mutation_p.S711F	p.S711F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		12	2137	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		711			PDZ 2.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2132C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976332	0.92982	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388;ENST00000372392	T;T;T	0.06371	3.47;3.31;3.46	5.47	5.47	0.80525	PDZ/DHR/GLGF (2);	0.000000	0.38217	N	0.001761	T	0.27933	0.0688	M	0.75447	2.3	0.51767	D	0.999938	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.87578	0.997;0.998;0.994	T	0.00735	-1.1588	10	0.87932	D	0	.	19.3317	0.94293	0.0:0.0:1.0:0.0	.	601;711;711	Q8TDM6-4;Q8TDM6;Q8TDM6-2	.;DLG5_HUMAN;.	F	711;12;711;260	ENSP00000361467:S711F;ENSP00000394797:S12F;ENSP00000361464:S711F	ENSP00000361464:S711F	S	-	2	0	DLG5	79259172	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.476000	0.97823	2.582000	0.87167	0.561000	0.74099	TCC		0.607	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			46	96	0	0	0	1	0	46	96				
PIGZ	80235	broad.mit.edu	37	3	196674505	196674505	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:196674505G>A	ENST00000412723.1	-	3	1409	c.1263C>T	c.(1261-1263)gcC>gcT	p.A421A		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	421					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GGGCACCGAGGGCGTTGAAGA	0.647																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1261-1263)gcC>gcT		phosphatidylinositol glycan anchor biosynthesis, class Z							43.0	43.0	43.0					3																	196674505		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674505G>A	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1263C>T	3.37:g.196674505G>A							p.A421A	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	1409	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		421					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.1263C>T	CCDS3324.1																																																																																				0.647	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		10	16	0	0	0	1	0	10	16				
IGSF3	3321	broad.mit.edu	37	1	117158813	117158813	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:117158813G>A	ENST00000369486.3	-	3	1075	c.310C>T	c.(310-312)Cta>Tta	p.L104L	IGSF3_ENST00000318837.6_Silent_p.L104L|IGSF3_ENST00000369483.1_Silent_p.L104L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	104	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGTGCAATAGGGTTGAGTTC	0.527																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(310-312)Cta>Tta		immunoglobulin superfamily, member 3							40.0	37.0	38.0					1																	117158813		2203	4299	6502	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117158813G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.310C>T	1.37:g.117158813G>A						IGSF3_ENST00000369483.1_Silent_p.L104L|IGSF3_ENST00000318837.6_Silent_p.L104L	p.L104L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	1075	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	104			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.310C>T	CCDS30813.1																																																																																				0.527	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		10	36	0	0	0	1	0	10	36				
BCOR	54880	broad.mit.edu	37	X	39923689	39923689	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:39923689C>G	ENST00000378444.4	-	7	3630	c.3402G>C	c.(3400-3402)agG>agC	p.R1134S	BCOR_ENST00000378455.4_Missense_Mutation_p.R1116S|BCOR_ENST00000378463.1_Missense_Mutation_p.R11S|BCOR_ENST00000397354.3_Missense_Mutation_p.R1134S|BCOR_ENST00000342274.4_Missense_Mutation_p.R1134S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1134					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGCGTTTCCTGTCCACCC	0.612			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3400-3402)agG>agC		BCL6 corepressor							58.0	49.0	52.0					X																	39923689		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923689C>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3402G>C	X.37:g.39923689C>G	ENSP00000367705:p.Arg1134Ser					BCOR_ENST00000397354.3_Missense_Mutation_p.R1134S|BCOR_ENST00000378455.4_Missense_Mutation_p.R1116S|BCOR_ENST00000378444.4_Missense_Mutation_p.R1134S|BCOR_ENST00000378463.1_Missense_Mutation_p.R11S	p.R1134S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			7	3764	-			1134					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3402G>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.065994	0.55539	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.63	-0.242	0.13039	.	.	.	.	.	T	0.08492	0.0211	L	0.32530	0.975	0.36452	D	0.866168	B;B;B	0.33103	0.348;0.397;0.348	B;B;B	0.36244	0.108;0.146;0.22	T	0.26643	-1.0097	9	0.59425	D	0.04	-9.1032	6.6046	0.22718	0.0:0.5081:0.3265:0.1655	.	1116;1134;1134	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	S	38;11;1116;1134;1134;1134;1134	ENSP00000408006:R38S;ENSP00000367724:R11S;ENSP00000367716:R1116S;ENSP00000380512:R1134S;ENSP00000367705:R1134S;ENSP00000345923:R1134S;ENSP00000384485:R1134S	ENSP00000345923:R1134S	R	-	3	2	BCOR	39808633	0.984000	0.35163	0.813000	0.32504	0.994000	0.84299	0.010000	0.13242	-0.173000	0.10761	0.529000	0.55759	AGG		0.612	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		34	53	0	0	0	1	0	34	53				
ATP10D	57205	broad.mit.edu	37	4	47559989	47559989	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:47559989C>T	ENST00000273859.3	+	12	2402	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	711					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGGCAGAGTCCCTCCCTGGAC	0.572																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(2131-2133)tcC>tcT		ATPase, class V, type 10D							61.0	56.0	58.0					4																	47559989		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47559989C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2133C>T	4.37:g.47559989C>T						AC092597.3_ENST00000508081.1_RNA	p.S711S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			12	2402	+			711					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.2133C>T	CCDS3476.1																																																																																				0.572	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	35	0	0	0	1	0	11	35				
PCDHA12	56137	broad.mit.edu	37	5	140257124	140257124	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140257124C>T	ENST00000398631.2	+	1	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGATCCCGAAGCGGCTC	0.647																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2065-2067)ccC>ccT									38.0	42.0	41.0					5																	140257124		2203	4300	6503	SO:0001819	synonymous_variant	56137							g.chr5:140257124C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2067C>T	5.37:g.140257124C>T						PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.P689P	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2067	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2067C>T	CCDS47285.1																																																																																				0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		25	40	0	0	0	1	0	25	40				
GAB4	128954	broad.mit.edu	37	22	17488983	17488983	+	Missense_Mutation	SNP	G	G	A	rs375162045		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:17488983G>A	ENST00000400588.1	-	1	129	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	8										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCCGGGAGGGTGAGGGGGAC	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12258	0.0		0.0	False		,,,				2504	0.0					ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(22-24)Ccc>Tcc		GRB2-associated binding protein family, member 4		G	SER/PRO	1,4281		0,1,2140	12.0	16.0	15.0		22	0.6	0.0	22		15	0,8488		0,0,4244	no	missense	GAB4	NM_001037814.1	74	0,1,6384	AA,AG,GG		0.0,0.0234,0.0078	probably-damaging	8/575	17488983	1,12769	2141	4244	6385	SO:0001583	missense	128954							g.chr22:17488983G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.22C>T	22.37:g.17488983G>A	ENSP00000383431:p.Pro8Ser						p.P8S	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			1	129	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	8						Missense_Mutation	SNP	ENST00000400588.1	37	c.22C>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358464	0.24598	2.34E-4	0.0	ENSG00000215568	ENST00000400588	T	0.10382	2.88	0.637	0.637	0.17735	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.13407	0.009	T	0.43653	-0.9378	8	0.06099	T	0.92	.	.	.	.	.	8	Q2WGN9	GAB4_HUMAN	S	8	ENSP00000383431:P8S	ENSP00000383431:P8S	P	-	1	0	GAB4	15868983	0.050000	0.20438	0.007000	0.13788	0.007000	0.05969	1.130000	0.31393	0.591000	0.29711	0.313000	0.20887	CCC		0.687	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		11	9	0	0	0	1	0	11	9				
CACNA1F	778	broad.mit.edu	37	X	49084739	49084739	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49084739C>T	ENST00000376265.2	-	7	1049	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E265K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E330K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	330		Calcium ion selectivity and permeability. {ECO:0000250}.			axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTCCAGCCTTCCATGGTGACA	0.587																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(988-990)Gaa>Aaa		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						80.0	64.0	70.0					X																	49084739		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49084739C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.988G>A	X.37:g.49084739C>T	ENSP00000365441:p.Glu330Lys					CACNA1F_ENST00000376251.1_Missense_Mutation_p.E265K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E330K	p.E330K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			7	1049	-			330				Calcium ion selectivity and permeability (By similarity).	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.988G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310813	0.81358	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97480	-4.4;-4.4;-4.4	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98216	0.9410	M	0.75085	2.285	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.99556	1.0967	10	0.87932	D	0	.	16.3457	0.83132	0.0:1.0:0.0:0.0	.	330;330	F5CIQ9;O60840	.;CAC1F_HUMAN	K	265;330;330	ENSP00000365427:E265K;ENSP00000321618:E330K;ENSP00000365441:E330K	ENSP00000321618:E330K	E	-	1	0	CACNA1F	48971683	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.955000	0.70306	2.114000	0.64651	0.436000	0.28706	GAA		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		10	24	0	0	0	1	0	10	24				
ZNF433	163059	broad.mit.edu	37	19	12125812	12125812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12125812C>T	ENST00000344980.6	-	4	2040	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.G589R	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	624					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AAAGCTTTCCCACATTGCTTA	0.438																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1765-1767)Ggg>Agg		zinc finger protein 433							87.0	92.0	90.0					19																	12125812		2202	4300	6502	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125812C>T	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1870G>A	19.37:g.12125812C>T	ENSP00000339767:p.Gly624Arg					ZNF433_ENST00000344980.6_Missense_Mutation_p.G624R|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	p.G589R			Q8N7K0	ZN433_HUMAN			5	2056	-			624					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1765G>A	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797617	0.70567	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.58506	0.33;0.33	1.42	-0.972	0.10300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64649	0.2617	L	0.49350	1.555	0.24433	N	0.994564	D	0.89917	1.0	D	0.97110	1.0	T	0.54221	-0.8326	9	0.51188	T	0.08	.	6.5086	0.22208	0.0:0.7061:0.0:0.2939	.	624	Q8N7K0	ZN433_HUMAN	R	589;624	ENSP00000393416:G589R;ENSP00000339767:G624R	ENSP00000339767:G624R	G	-	1	0	ZNF433	11986812	0.000000	0.05858	0.015000	0.15790	0.982000	0.71751	0.466000	0.22019	-0.220000	0.09988	0.313000	0.20887	GGG		0.438	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		26	37	0	0	0	1	0	26	37				
TRIM67	440730	broad.mit.edu	37	1	231344869	231344869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:231344869C>T	ENST00000366653.5	+	8	1996	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S	TRIM67_ENST00000444294.3_Missense_Mutation_p.P664S|TRIM67_ENST00000366652.2_Missense_Mutation_p.P666S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	666	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.P666T(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCACCCAGACCCCGCCTTCGG	0.632																																						ENST00000444294.3																			2	Substitution - Missense(2)	p.P666T(2)	lung(2)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1990-1992)Ccc>Tcc		tripartite motif containing 67							83.0	93.0	90.0					1																	231344869		2181	4292	6473	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231344869C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1996C>T	1.37:g.231344869C>T	ENSP00000355613:p.Pro666Ser					TRIM67_ENST00000366652.2_Missense_Mutation_p.P666S|TRIM67_ENST00000366653.5_Missense_Mutation_p.P666S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604S	p.P664S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			8	2848	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	666			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1990C>T	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500260	0.96355	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85958	0.1468	10	0.59425	D	0.04	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	666	Q6ZTA4	TRI67_HUMAN	S	664;666;604;666	ENSP00000412124:P664S;ENSP00000355612:P666S;ENSP00000400163:P604S;ENSP00000355613:P666S	ENSP00000355612:P666S	P	+	1	0	TRIM67	229411492	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.734000	0.84928	2.854000	0.98071	0.655000	0.94253	CCC		0.632	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		62	25	0	0	0	1	0	62	25				
ZNF629	23361	broad.mit.edu	37	16	30794800	30794800	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30794800G>A	ENST00000262525.4	-	3	1056	c.849C>T	c.(847-849)acC>acT	p.T283T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGCCTGTGTGGGTGGCCTGGT	0.642																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(847-849)acC>acT		zinc finger protein 629							71.0	78.0	76.0					16																	30794800		2190	4297	6487	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794800G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.849C>T	16.37:g.30794800G>A							p.T283T	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1056	-			283					Q15938	Silent	SNP	ENST00000262525.4	37	c.849C>T	CCDS45463.1																																																																																				0.642	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		23	40	0	0	0	1	0	23	40				
ZNF804B	219578	broad.mit.edu	37	7	88966298	88966298	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:88966298G>A	ENST00000333190.4	+	4	4611	c.4002G>A	c.(4000-4002)caG>caA	p.Q1334Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1334							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGATGCAACAGCTAAATGAAG	0.383										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(4000-4002)caG>caA		zinc finger protein 804B							73.0	75.0	74.0					7																	88966298		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88966298G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.4002G>A	7.37:g.88966298G>A		HNSCC(36;0.09)					p.Q1334Q	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4611	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1334					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.4002G>A	CCDS5613.1																																																																																				0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		30	73	0	0	0	1	0	30	73				
GDF2	2658	broad.mit.edu	37	10	48414339	48414339	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48414339C>T	ENST00000249598.1	-	2	688	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	177					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTGTTCCATCCAGAACATCA	0.532																																						ENST00000249598.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						c.(529-531)Gat>Aat		growth differentiation factor 2							79.0	66.0	70.0					10																	48414339		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414339C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.529G>A	10.37:g.48414339C>T	ENSP00000249598:p.Asp177Asn						p.D177N	NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN			2	688	-			177					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.529G>A	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824440	0.71143	.	.	ENSG00000128802	ENST00000249598	T	0.66280	-0.2	5.73	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	0.371966	0.29529	N	0.011888	T	0.61135	0.2323	M	0.65975	2.015	0.32038	N	0.598601	B	0.25206	0.12	B	0.29663	0.105	T	0.66846	-0.5820	10	0.42905	T	0.14	.	11.9928	0.53184	0.0:0.9202:0.0:0.0798	.	177	Q9UK05	GDF2_HUMAN	N	177	ENSP00000249598:D177N	ENSP00000249598:D177N	D	-	1	0	GDF2	48034345	0.788000	0.28762	0.869000	0.34112	0.755000	0.42902	2.015000	0.40961	1.433000	0.47394	0.591000	0.81541	GAT		0.532	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		17	30	0	0	0	1	0	17	30				
STAT5A	6776	broad.mit.edu	37	17	40452852	40452852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40452852C>T	ENST00000345506.4	+	9	1595	c.953C>T	c.(952-954)gCc>gTc	p.A318V	STAT5A_ENST00000590949.1_Missense_Mutation_p.A318V|STAT5A_ENST00000452307.2_Missense_Mutation_p.A318V|STAT5A_ENST00000588868.1_Missense_Mutation_p.A318V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A288V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	318					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GAGGTCAACGCCACCATCACG	0.647																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(952-954)gCc>gTc		signal transducer and activator of transcription 5A							19.0	19.0	19.0					17																	40452852		2200	4274	6474	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40452852C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.953C>T	17.37:g.40452852C>T	ENSP00000341208:p.Ala318Val					STAT5A_ENST00000452307.2_Missense_Mutation_p.A318V|STAT5A_ENST00000590949.1_Missense_Mutation_p.A318V|STAT5A_ENST00000588868.1_Missense_Mutation_p.A318V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A288V	p.A318V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	9	1595	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	318					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.953C>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017424	0.35606	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.61040	0.14;0.14;0.14	4.39	4.39	0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.293035	0.37219	N	0.002188	T	0.55593	0.1930	M	0.64997	1.995	0.37654	D	0.92252	B;B;B	0.30236	0.274;0.16;0.144	B;B;B	0.33690	0.168;0.102;0.119	T	0.59386	-0.7464	10	0.27082	T	0.32	-8.7288	13.8526	0.63506	0.0:0.8339:0.1661:0.0	.	288;320;318	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	V	318;288;320;318	ENSP00000341208:A318V;ENSP00000443107:A288V;ENSP00000400320:A318V	ENSP00000341208:A318V	A	+	2	0	STAT5A	37706378	0.990000	0.36364	1.000000	0.80357	0.830000	0.47004	1.441000	0.35035	1.984000	0.57885	0.306000	0.20318	GCC		0.647	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		16	20	0	0	0	1	0	16	20				
C19orf57	79173	broad.mit.edu	37	19	14000669	14000669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:14000669G>A	ENST00000586783.1	-	5	999	c.1000C>T	c.(1000-1002)Ctc>Ttc	p.L334F	C19orf57_ENST00000454313.1_Missense_Mutation_p.L334F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.L334F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	334					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACCATCCCGAGGGAGGAGCAT	0.657																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1000-1002)Ctc>Ttc		chromosome 19 open reading frame 57							29.0	30.0	30.0					19																	14000669		2203	4298	6501	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000669G>A	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1000C>T	19.37:g.14000669G>A	ENSP00000465822:p.Leu334Phe					C19orf57_ENST00000586783.1_Missense_Mutation_p.L334F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.L334F	p.L334F			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1058	-			334					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	13.61	2.287340	0.40494	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.62105	0.05;0.05	3.19	-2.4	0.06583	.	2.262800	0.02563	N	0.096947	T	0.67297	0.2878	L	0.36672	1.1	0.09310	N	1	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.865	T	0.56183	-0.8021	10	0.56958	D	0.05	-0.1706	3.7207	0.08454	0.4075:0.1912:0.4014:0.0	.	334;334	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	F	334	ENSP00000404382:L334F;ENSP00000254336:L334F	ENSP00000254336:L334F	L	-	1	0	C19orf57	13861669	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.117000	0.15583	-0.339000	0.08401	0.313000	0.20887	CTC		0.657	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		17	35	0	0	0	1	0	17	35				
FREM1	158326	broad.mit.edu	37	9	14808111	14808111	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:14808111G>A	ENST00000380880.3	-	17	3698	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L	FREM1_ENST00000380881.4_Missense_Mutation_p.P973L|FREM1_ENST00000422223.2_Missense_Mutation_p.P972L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	972					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)		GTCAAAACAAGGCATCAGGCC	0.438																																						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.(2917-2919)cCt>cTt		FRAS1 related extracellular matrix 1							127.0	124.0	125.0					9																	14808111		2030	4177	6207	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14808111G>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.2915C>T	9.37:g.14808111G>A	ENSP00000370262:p.Pro972Leu					FREM1_ENST00000422223.2_Missense_Mutation_p.P972L|FREM1_ENST00000380880.3_Missense_Mutation_p.P972L	p.P973L			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	18	3733	-			972					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.2918C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383714	0.42308	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.12147	2.71;2.71;2.71	5.79	5.79	0.91817	.	0.209202	0.51477	D	0.000092	T	0.17280	0.0415	M	0.66939	2.045	0.48830	D	0.999713	B	0.21309	0.054	B	0.25614	0.062	T	0.02431	-1.1160	10	0.29301	T	0.29	-8.6208	11.4077	0.49908	0.1395:0.0:0.8605:0.0	.	972	Q5H8C1	FREM1_HUMAN	L	973;972;972	ENSP00000370263:P973L;ENSP00000412940:P972L;ENSP00000370262:P972L	ENSP00000370257:P975L	P	-	2	0	FREM1	14798111	1.000000	0.71417	0.994000	0.49952	0.448000	0.32197	6.253000	0.72453	2.741000	0.93983	0.557000	0.71058	CCT		0.438	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		35	10	0	0	0	1	0	35	10				
FAM229B	619208	broad.mit.edu	37	6	112421922	112421922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:112421922C>T	ENST00000368656.2	+	4	472	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	FAM229B_ENST00000604268.1_Missense_Mutation_p.P59S	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	59																	AACTGATGTTCCCGTCACTGT	0.418																																						ENST00000368656.2																			0											c.(175-177)Ccc>Tcc		family with sequence similarity 229, member B							128.0	108.0	115.0					6																	112421922		2203	4300	6503	SO:0001583	missense	619208							g.chr6:112421922C>T		CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 225"""	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.175C>T	6.37:g.112421922C>T	ENSP00000357645:p.Pro59Ser					FAM229B_ENST00000604268.1_Missense_Mutation_p.P59S	p.P59S	NM_001033564.1	NP_001028736.1					4	472	+								B8ZZ33	Missense_Mutation	SNP	ENST00000368656.2	37	c.175C>T	CCDS34513.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157603	0.57368	.	.	ENSG00000203778	ENST00000368656	.	.	.	5.2	5.2	0.72013	.	0.000000	0.49305	D	0.000144	T	0.75087	0.3802	.	.	.	0.38436	D	0.946561	D	0.89917	1.0	D	0.87578	0.998	T	0.77838	-0.2439	8	0.87932	D	0	-13.2905	14.4378	0.67293	0.0:1.0:0.0:0.0	.	59	Q4G0N7	CF225_HUMAN	S	59	.	ENSP00000357645:P59S	P	+	1	0	C6orf225	112528615	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.208000	0.51114	2.854000	0.98071	0.655000	0.94253	CCC		0.418	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041870.2	NM_001033564		19	25	0	0	0	1	0	19	25				
BCAS3	54828	broad.mit.edu	37	17	58824580	58824580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:58824580C>T	ENST00000390652.5	+	6	374	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	BCAS3_ENST00000408905.3_Missense_Mutation_p.L115F|Y_RNA_ENST00000516725.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.L115F|BCAS3_ENST00000407086.3_Missense_Mutation_p.L115F|BCAS3_ENST00000589222.1_Missense_Mutation_p.L115F	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGCACAAGAGCTCTTCTCTGT	0.393																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(343-345)Ctc>Ttc		breast carcinoma amplified sequence 3							190.0	176.0	180.0					17																	58824580		1866	4100	5966	SO:0001583	missense	54828					nucleus		g.chr17:58824580C>T	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.343C>T	17.37:g.58824580C>T	ENSP00000375067:p.Leu115Phe					BCAS3_ENST00000408905.3_Missense_Mutation_p.L115F|BCAS3_ENST00000588462.1_Missense_Mutation_p.L115F|BCAS3_ENST00000390652.5_Missense_Mutation_p.L115F|BCAS3_ENST00000407086.3_Missense_Mutation_p.L115F	p.L115F			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		6	411	+			115						Missense_Mutation	SNP	ENST00000390652.5	37	c.343C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531370	0.85706	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905	T;T;T	0.08634	3.07;3.07;3.07	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);	0.131906	0.50627	D	0.000114	T	0.25382	0.0617	M	0.67397	2.05	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.995	P;P;D	0.66497	0.883;0.881;0.944	T	0.00163	-1.1969	10	0.52906	T	0.07	.	14.6479	0.68774	0.0:1.0:0.0:0.0	.	115;115;115	Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;BCAS3_HUMAN;.	F	115	ENSP00000375067:L115F;ENSP00000385323:L115F;ENSP00000386173:L115F	ENSP00000375067:L115F	L	+	1	0	BCAS3	56179362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.456000	0.66665	2.527000	0.85204	0.644000	0.83932	CTC		0.393	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		65	124	0	0	0	1	0	65	124				
PDCL	5082	broad.mit.edu	37	9	125588973	125588973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:125588973G>A	ENST00000259467.4	-	2	259	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	32					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CATCTGCCTCGGTCCTTGTCC	0.552																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(94-96)Cga>Tga		phosducin-like							134.0	108.0	116.0					9																	125588973		2203	4300	6503	SO:0001587	stop_gained	5082				signal transduction|visual perception			g.chr9:125588973G>A	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.94C>T	9.37:g.125588973G>A	ENSP00000259467:p.Arg32*						p.R32*	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			2	259	-			32					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Nonsense_Mutation	SNP	ENST00000259467.4	37	c.94C>T	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.861001|1.861001	0.32884|0.32884	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000394285|ENST00000259467	.|.	.|.	.|.	5.7|5.7	-8.06|-8.06	0.01102|0.01102	.|.	.|0.785171	.|0.12689	.|N	.|0.447311	T|.	0.45716|.	0.1356|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53436|.	-0.8439|.	3|.	.|.	.|.	.|.	1.0069|1.0069	14.1403|14.1403	0.65316|0.65316	0.0:0.6665:0.1209:0.2126|0.0:0.6665:0.1209:0.2126	.|.	.|.	.|.	.|.	L|X	20|32	.|.	.|.	P|R	-|-	2|1	0|2	PDCL|PDCL	124628794|124628794	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.284000|-0.284000	0.08422|0.08422	-1.897000|-1.897000	0.01101|0.01101	-0.176000|-0.176000	0.13171|0.13171	CCG|CGA		0.552	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		47	17	0	0	0	1	0	47	17				
STX12	23673	broad.mit.edu	37	1	28120125	28120125	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:28120125C>T	ENST00000373943.4	+	3	395	c.270C>T	c.(268-270)ccC>ccT	p.P90P	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	90					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTTCCCTTATCTACTT	0.363																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(268-270)ccC>ccT		syntaxin 12							144.0	137.0	139.0					1																	28120125		2203	4300	6503	SO:0001819	synonymous_variant	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28120125C>T	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.270C>T	1.37:g.28120125C>T						STX12_ENST00000468761.1_3'UTR	p.P90P	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	3	395	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	90					B1AJQ7|O95564	Silent	SNP	ENST00000373943.4	37	c.270C>T	CCDS310.1																																																																																				0.363	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		8	25	0	0	0	1	0	8	25				
SGIP1	84251	broad.mit.edu	37	1	67147816	67147816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:67147816C>T	ENST00000371037.4	+	15	1156	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	360	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCACAGGCCCCCCAGGGCCT	0.572																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1078-1080)cCc>cTc		SH3-domain GRB2-like (endophilin) interacting protein 1							84.0	108.0	99.0					1																	67147816		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67147816C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1079C>T	1.37:g.67147816C>T	ENSP00000360076:p.Pro360Leu					SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L	p.P360L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			15	1156	+			360			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1079C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054568	0.36277	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.20069	2.1;2.15	5.03	5.03	0.67393	.	0.324544	0.28595	N	0.014799	T	0.13157	0.0319	N	0.14661	0.345	0.19300	N	0.999979	D;B	0.71674	0.998;0.0	D;B	0.76071	0.987;0.0	T	0.12293	-1.0553	10	0.23302	T	0.38	-3.3214	9.8834	0.41247	0.0:0.9056:0.0:0.0944	.	363;360	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	364;363;363;360	ENSP00000237247:P364L;ENSP00000360076:P360L	ENSP00000237247:P364L	P	+	2	0	SGIP1	66920404	0.971000	0.33674	0.317000	0.25265	0.486000	0.33341	3.252000	0.51461	2.494000	0.84150	0.455000	0.32223	CCC		0.572	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		44	129	0	0	0	1	0	44	129				
COL6A1	1291	broad.mit.edu	37	21	47422153	47422153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422153G>A	ENST00000361866.3	+	32	2202	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCCTGCAGTGGATGGCGGGCG	0.697																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2086-2088)tgG>tgA		collagen, type VI, alpha 1	Palifermin(DB00039)						11.0	11.0	11.0					21																	47422153		2164	4257	6421	SO:0001587	stop_gained	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422153G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2088G>A	21.37:g.47422153G>A	ENSP00000355180:p.Trp696*					COL6A1_ENST00000498614.1_3'UTR	p.W696*	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2202	+	all_hematologic(128;0.24)		696			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Nonsense_Mutation	SNP	ENST00000361866.3	37	c.2088G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	39	7.323174	0.98210	.	.	ENSG00000142156	ENST00000361866	.	.	.	4.45	4.45	0.53987	.	0.178204	0.41097	U	0.000956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5251	17.071	0.86573	0.0:0.0:1.0:0.0	.	.	.	.	X	696	.	ENSP00000355180:W696X	W	+	3	0	COL6A1	46246581	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	8.894000	0.92506	2.029000	0.59856	0.462000	0.41574	TGG		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		5	3	0	0	0	1	0	5	3				
KIF21A	55605	broad.mit.edu	37	12	39763620	39763620	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:39763620G>A	ENST00000361418.5	-	3	376	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	KIF21A_ENST00000541463.2_Missense_Mutation_p.L121F|KIF21A_ENST00000395670.3_Missense_Mutation_p.L121F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L121F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L121F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	121	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTAAAAAGGTGTTTAACA	0.348																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(361-363)Ctt>Ttt		kinesin family member 21A							84.0	80.0	82.0					12																	39763620		2202	4298	6500	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763620G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.361C>T	12.37:g.39763620G>A	ENSP00000354878:p.Leu121Phe					KIF21A_ENST00000541463.2_Missense_Mutation_p.L121F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L121F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L121F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L121F	p.L121F			Q7Z4S6	KI21A_HUMAN			3	780	-		Lung NSC(34;0.179)|all_lung(34;0.213)	121			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.361C>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519285	0.85495	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.41605	D	0.000843	D	0.91334	0.7267	M	0.87758	2.905	0.58432	D	0.999997	P;D;P;D;P	0.89917	0.729;0.997;0.544;1.0;0.936	B;D;P;D;P	0.91635	0.437;0.995;0.537;0.999;0.714	D	0.92573	0.6068	10	0.87932	D	0	.	19.1033	0.93282	0.0:0.0:1.0:0.0	.	121;121;121;121;121	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	F	121	ENSP00000354851:L121F;ENSP00000379029:L121F;ENSP00000445606:L121F;ENSP00000354878:L121F;ENSP00000438075:L121F	ENSP00000344501:L121F	L	-	1	0	KIF21A	38049887	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.880000	0.92407	2.587000	0.87381	0.557000	0.71058	CTT		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		19	31	0	0	0	1	0	19	31				
MIR515-1	574462	broad.mit.edu	37	19	54182275	54182275	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:54182275C>T	ENST00000384884.1	+	0	19				MIR519E_ENST00000385075.1_RNA	NR_030184.1|NR_030187.1				microRNA 515-1																		AGTCATTCTCCAAAAGAAAGC	0.373																																						ENST00000384884.1																			0																				73.0	73.0	73.0					19																	54182275		1568	3582	5150			574462							g.chr19:54182275C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207616	ENSG00000207616		"""ncRNAs / Micro RNAs"""	32094	non-coding RNA	RNA, micro				MIRN515-1			Standard	NR_030184		Approved	hsa-mir-515-1	uc010ydz.2				19.37:g.54182275C>T								NR_030184.1|NR_030187.1						0	19	+									RNA	SNP	ENST00000384884.1	37																																																																																						0.373	MIR515-1-201	KNOWN	basic	miRNA	miRNA		NR_030184		23	46	0	0	0	1	0	23	46				
DPYSL5	56896	broad.mit.edu	37	2	27167532	27167532	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27167532G>A	ENST00000288699.6	+	12	1607	c.1449G>A	c.(1447-1449)aaG>aaA	p.K483K	DPYSL5_ENST00000401478.1_Silent_p.K483K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	483					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTTTAAAGGTTAGAGGAG	0.557																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1447-1449)aaG>aaA		dihydropyrimidinase-like 5							78.0	72.0	74.0					2																	27167532		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27167532G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1449G>A	2.37:g.27167532G>A						DPYSL5_ENST00000401478.1_Silent_p.K483K	p.K483K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			12	1607	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.1449G>A	CCDS1730.1																																																																																				0.557	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		29	24	0	0	0	1	0	29	24				
PTPN12	5782	broad.mit.edu	37	7	77240341	77240341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:77240341C>T	ENST00000248594.6	+	11	1189	c.917C>T	c.(916-918)gCt>gTt	p.A306V	PTPN12_ENST00000415482.2_Missense_Mutation_p.A187V|PTPN12_ENST00000435495.2_Missense_Mutation_p.A176V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	306					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTCATGGAGCTCAGAAAATT	0.318																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(916-918)gCt>gTt		protein tyrosine phosphatase, non-receptor type 12							131.0	145.0	140.0					7																	77240341		2203	4299	6502	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77240341C>T		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.917C>T	7.37:g.77240341C>T	ENSP00000248594:p.Ala306Val					PTPN12_ENST00000415482.2_Missense_Mutation_p.A187V|PTPN12_ENST00000435495.2_Missense_Mutation_p.A176V	p.A306V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			11	1189	+			306					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.917C>T	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219236	0.39201	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.07021	3.82;3.23;3.23	5.47	0.941	0.19519	.	0.671786	0.15387	N	0.265008	T	0.03959	0.0111	N	0.14661	0.345	0.24145	N	0.995717	B	0.02656	0.0	B	0.04013	0.001	T	0.46512	-0.9186	10	0.13108	T	0.6	.	6.4076	0.21672	0.3557:0.4853:0.0:0.159	.	306	Q05209	PTN12_HUMAN	V	306;187;187;176	ENSP00000248594:A306V;ENSP00000392429:A187V;ENSP00000397991:A176V	ENSP00000248594:A306V	A	+	2	0	PTPN12	77078277	0.225000	0.23685	0.664000	0.29753	0.917000	0.54804	0.241000	0.18065	0.358000	0.24211	-0.182000	0.12963	GCT		0.318	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			60	93	0	0	0	1	0	60	93				
CPQ	10404	broad.mit.edu	37	8	97892030	97892030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:97892030C>T	ENST00000220763.5	+	4	856	c.646C>T	c.(646-648)Cac>Tac	p.H216Y		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	216					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CTCAAGTCCTCACACAGGTAT	0.418																																						ENST00000220763.5																			0											c.(646-648)Cac>Tac		carboxypeptidase Q							87.0	87.0	87.0					8																	97892030		2203	4300	6503	SO:0001583	missense	10404				peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity	g.chr8:97892030C>T	AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.646C>T	8.37:g.97892030C>T	ENSP00000220763:p.His216Tyr						p.H216Y	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN			4	856	+			216					B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	c.646C>T	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606787	0.87157	.	.	ENSG00000104324	ENST00000220763	T	0.52526	0.66	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.93328	3.405	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75147	-0.3420	10	0.16420	T	0.52	-21.6706	17.0516	0.86520	0.0:1.0:0.0:0.0	.	216;216	B5MDX4;Q9Y646	.;PGCP_HUMAN	Y	216	ENSP00000220763:H216Y	ENSP00000220763:H216Y	H	+	1	0	AC010859.1	97961206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.470000	0.80973	2.779000	0.95612	0.591000	0.81541	CAC		0.418	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134		33	54	0	0	0	1	0	33	54				
CDH5	1003	broad.mit.edu	37	16	66426130	66426130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66426130G>A	ENST00000341529.3	+	7	1209	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	CDH5_ENST00000563425.2_Missense_Mutation_p.G354E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCTCCCGCGGGAAACAGAGCC	0.527																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1060-1062)gGa>gAa		cadherin 5, type 2 (vascular endothelium)							150.0	147.0	148.0					16																	66426130		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426130G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1061G>A	16.37:g.66426130G>A	ENSP00000344115:p.Gly354Glu					CDH5_ENST00000563425.2_Missense_Mutation_p.G354E	p.G354E	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1209	+		Ovarian(137;0.0955)	354			Cadherin 3.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1061G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	9.203	1.028988	0.19512	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.46819	0.86	5.7	-7.73	0.01245	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30916	0.0780	N	0.12502	0.225	0.09310	N	0.999999	B	0.17268	0.021	B	0.26614	0.071	T	0.30001	-0.9993	9	0.59425	D	0.04	.	17.5094	0.87756	0.7897:0.0:0.2103:0.0	.	354	P33151	CADH5_HUMAN	E	354;354;95	ENSP00000344115:G354E	ENSP00000344115:G354E	G	+	2	0	CDH5	64983631	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.209000	0.17435	-1.786000	0.01269	0.655000	0.94253	GGA		0.527	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		66	101	0	0	0	1	0	66	101				
ARHGAP35	2909	broad.mit.edu	37	19	47503786	47503786	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:47503786C>T	ENST00000404338.3	+	6	4341	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1447	Pro-rich.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCCCCGGCGCCAGGCCCAGCT	0.642																																						ENST00000404338.3																			0											c.(4339-4341)gcC>gcT		Rho GTPase activating protein 35							75.0	82.0	79.0					19																	47503786		2028	4159	6187	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503786C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4341C>T	19.37:g.47503786C>T							p.A1447A	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			6	4341	+			1447			Pro-rich.		A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.4341C>T	CCDS46127.1																																																																																				0.642	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		26	59	0	0	0	1	0	26	59				
TTLL8	164714	broad.mit.edu	37	22	50469179	50469179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:50469179C>T	ENST00000266182.6	-	12	1882	c.1883G>A	c.(1882-1884)gGa>gAa	p.G628E	TTLL8_ENST00000440475.1_Missense_Mutation_p.G608E			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	644					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGATGGGGGTCCCTGGGCAGG	0.692																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1882-1884)gGa>gAa		tubulin tyrosine ligase-like family, member 8							8.0	10.0	9.0					22																	50469179		1874	4091	5965	SO:0001583	missense	164714							g.chr22:50469179C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1883G>A	22.37:g.50469179C>T	ENSP00000266182:p.Gly628Glu					TTLL8_ENST00000440475.1_Missense_Mutation_p.G608E	p.G628E						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	12	1882	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1883G>A		.	.	.	.	.	.	.	.	.	.	C	15.08	2.727753	0.48833	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04156	3.69;3.79;3.79	5.17	0.441	0.16577	.	103.310000	0.00166	N	0.000000	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	B	0.29301	0.241	B	0.36567	0.228	T	0.39761	-0.9598	10	0.19147	T	0.46	.	4.2136	0.10522	0.1506:0.4739:0.2919:0.0835	.	628	B5MDV0	.	E	628;608;644	ENSP00000266182:G628E;ENSP00000387509:G608E;ENSP00000392252:G644E	ENSP00000266182:G628E	G	-	2	0	TTLL8	48811306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.836000	0.27545	0.214000	0.20742	-0.956000	0.02647	GGA		0.692	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		3	8	0	0	0	1	0	3	8				
TBL2	26608	broad.mit.edu	37	7	72985581	72985581	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985581G>A	ENST00000305632.5	-	6	1057	c.816C>T	c.(814-816)gcC>gcT	p.A272A	TBL2_ENST00000432538.1_Silent_p.A236A|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	272							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTAGTTCGAAGGCTCGCACCA	0.547																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(814-816)gcC>gcT		transducin (beta)-like 2							87.0	73.0	78.0					7																	72985581		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72985581G>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.816C>T	7.37:g.72985581G>A						TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.A236A	p.A272A	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			6	1057	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	272					Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.816C>T	CCDS5551.1																																																																																				0.547	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		20	45	0	0	0	1	0	20	45				
FNDC4	64838	broad.mit.edu	37	2	27715552	27715552	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:27715552C>T	ENST00000264703.3	-	6	1041	c.650G>A	c.(649-651)aGg>aAg	p.R217K	IFT172_ENST00000260570.3_5'Flank|IFT172_ENST00000416524.2_5'Flank|IFT172_ENST00000359466.6_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	217						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCCACTGGCCTTCCCTGAGG	0.567																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(649-651)aGg>aAg		fibronectin type III domain containing 4							138.0	130.0	133.0					2																	27715552		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27715552C>T	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.650G>A	2.37:g.27715552C>T	ENSP00000264703:p.Arg217Lys						p.R217K	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			6	1041	-	Acute lymphoblastic leukemia(172;0.155)		217					D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.650G>A	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322337	0.41096	.	.	ENSG00000115226	ENST00000264703	T	0.07800	3.16	4.98	4.08	0.47627	.	0.303544	0.36338	N	0.002655	T	0.06188	0.0160	L	0.34521	1.04	0.36036	D	0.839768	P	0.38504	0.634	B	0.30572	0.117	T	0.42682	-0.9437	10	0.19590	T	0.45	-16.1972	13.2592	0.60097	0.1601:0.8399:0.0:0.0	.	217	Q9H6D8	FNDC4_HUMAN	K	217	ENSP00000264703:R217K	ENSP00000264703:R217K	R	-	2	0	FNDC4	27569056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.391000	0.52530	1.030000	0.39839	0.563000	0.77884	AGG		0.567	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		48	81	0	0	0	1	0	48	81				
TLX2	3196	broad.mit.edu	37	2	74742935	74742935	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:74742935G>A	ENST00000233638.7	+	2	899	c.576G>A	c.(574-576)aaG>aaA	p.K192K		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	192					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CGCTGGCCAAGGCCTTGCGCA	0.692																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(574-576)aaG>aaA		T-cell leukemia homeobox 2							18.0	19.0	19.0					2																	74742935		2203	4296	6499	SO:0001819	synonymous_variant	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742935G>A	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.576G>A	2.37:g.74742935G>A							p.K192K	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	899	+			192					Q9UD56|Q9UQ48	Silent	SNP	ENST00000233638.7	37	c.576G>A	CCDS1947.1																																																																																				0.692	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			10	18	0	0	0	1	0	10	18				
RABGEF1	27342	broad.mit.edu	37	7	66264400	66264400	+	Splice_Site	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:66264400A>T	ENST00000284957.5	+	7	896	c.819A>T	c.(817-819)acA>acT	p.T273T	RABGEF1_ENST00000439720.2_Splice_Site_p.T286T|RABGEF1_ENST00000437078.2_Splice_Site_p.T287T|KCTD7_ENST00000510829.2_Splice_Site_p.T273T|KCTD7_ENST00000380828.2_Splice_Site_p.T313T|RABGEF1_ENST00000450873.2_Splice_Site_p.T273T|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000451741.2_Splice_Site_p.T273T			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	490					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGGCGATCACAGGTCAGTGAA	0.423																																						ENST00000380828.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.e9+1		potassium channel tetramerization domain containing 7							87.0	80.0	82.0					7																	66264400		2203	4300	6503	SO:0001630	splice_region_variant	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66264400A>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.820+1A>T	7.37:g.66264400A>T						RABGEF1_ENST00000450873.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000284957.5_Splice_Site_p.T273_splice|RABGEF1_ENST00000439720.2_Splice_Site_p.T286_splice|KCTD7_ENST00000451741.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000437078.2_Splice_Site_p.T287_splice|KCTD7_ENST00000510829.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000484547.2_3'UTR	p.T313_splice			Q96MP8	KCTD7_HUMAN			9	1093	+			250					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Splice_Site	SNP	ENST00000284957.5	37	c.940_splice	CCDS5535.1																																																																																				0.423	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	Silent	27	13	0	0	0	1	0	27	13				
LRGUK	136332	broad.mit.edu	37	7	133886309	133886309	+	Missense_Mutation	SNP	G	G	C	rs146922831	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:133886309G>C	ENST00000285928.2	+	15	1893	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	608						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AACCTGCCAAGAGTTTGGCTA	0.383																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1822-1824)aaG>aaC		leucine-rich repeats and guanylate kinase domain containing							116.0	103.0	107.0					7																	133886309		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133886309G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1824G>C	7.37:g.133886309G>C	ENSP00000285928:p.Lys608Asn						p.K608N	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			15	1893	+			608					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1824G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984514	0.18889	.	.	ENSG00000155530	ENST00000285928	T	0.37584	1.19	5.02	2.07	0.26955	.	0.515679	0.20956	N	0.082649	T	0.30916	0.0780	M	0.76838	2.35	0.09310	N	1	P	0.35656	0.514	B	0.27887	0.084	T	0.25710	-1.0124	10	0.48119	T	0.1	-4.0809	4.6398	0.12543	0.213:0.1787:0.6084:0.0	.	608	Q96M69	LRGUK_HUMAN	N	608	ENSP00000285928:K608N	ENSP00000285928:K608N	K	+	3	2	LRGUK	133536849	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.454000	0.21827	0.183000	0.20059	0.655000	0.94253	AAG		0.383	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		24	41	0	0	0	1	0	24	41				
ZC3HAV1	56829	broad.mit.edu	37	7	138732569	138732569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:138732569G>A	ENST00000242351.5	-	13	2796	c.2480C>T	c.(2479-2481)tCc>tTc	p.S827F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S949F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	827	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTTTTGTGGGAATAGATGGC	0.333																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(2479-2481)tCc>tTc		zinc finger CCCH-type, antiviral 1							85.0	87.0	87.0					7																	138732569		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138732569G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.2480C>T	7.37:g.138732569G>A	ENSP00000242351:p.Ser827Phe					ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S949F	p.S827F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			13	2796	-			827			PARP catalytic.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.2480C>T	CCDS5851.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812913	0.70912	.	.	ENSG00000105939	ENST00000242351;ENST00000464606	T;T	0.35605	1.3;1.3	5.23	4.36	0.52297	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.138322	0.33732	N	0.004605	T	0.59729	0.2215	M	0.93594	3.435	0.80722	D	1	D	0.56521	0.976	P	0.53006	0.715	T	0.71347	-0.4620	10	0.87932	D	0	.	11.7143	0.51643	0.0849:0.0:0.9151:0.0	.	827	Q7Z2W4	ZCCHV_HUMAN	F	827;949	ENSP00000242351:S827F;ENSP00000418385:S949F	ENSP00000242351:S827F	S	-	2	0	ZC3HAV1	138383109	1.000000	0.71417	0.040000	0.18447	0.982000	0.71751	6.414000	0.73318	1.435000	0.47434	0.555000	0.69702	TCC		0.333	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		42	47	0	0	0	1	0	42	47				
DPP10	57628	broad.mit.edu	37	2	116510843	116510843	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:116510843C>T	ENST00000410059.1	+	11	1524	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	DPP10_ENST00000310323.8_Silent_p.V341V|DPP10_ENST00000393147.2_Silent_p.V352V|DPP10_ENST00000409163.1_Silent_p.V298V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	348						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCTCACAGTCTGTGAGACCA	0.373																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1042-1044)gtC>gtT		dipeptidyl-peptidase 10 (non-functional)							121.0	108.0	112.0					2																	116510843		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116510843C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1044C>T	2.37:g.116510843C>T						DPP10_ENST00000393147.2_Silent_p.V352V|DPP10_ENST00000310323.8_Silent_p.V341V|DPP10_ENST00000409163.1_Silent_p.V298V	p.V348V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			11	1524	+			348					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.1044C>T	CCDS46400.1																																																																																				0.373	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		20	32	0	0	0	1	0	20	32				
MAST1	22983	broad.mit.edu	37	19	12979965	12979965	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12979965C>T	ENST00000251472.4	+	22	2898	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTCCTCACCCAGCCGGGACT	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2857-2859)ccC>ccT		microtubule associated serine/threonine kinase 1							109.0	88.0	95.0					19																	12979965		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12979965C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2859C>T	19.37:g.12979965C>T							p.P953P	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			22	2898	+			953						Silent	SNP	ENST00000251472.4	37	c.2859C>T	CCDS32921.1																																																																																				0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		25	50	0	0	0	1	0	25	50				
CCNL2	81669	broad.mit.edu	37	1	1323209	1323209	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1323209G>A	ENST00000400809.3	-	10	1164	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	CCNL2_ENST00000408952.5_Missense_Mutation_p.R165C|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	387	RS.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTCTGCTCACGGCTCCGGCTC	0.637																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(1159-1161)Cgt>Tgt		cyclin L2							42.0	42.0	42.0					1																	1323209		2203	4296	6499	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1323209G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1159C>T	1.37:g.1323209G>A	ENSP00000383611:p.Arg387Cys					CCNL2_ENST00000408952.5_Missense_Mutation_p.R165C|CCNL2_ENST00000505849.1_5'UTR	p.R387C	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	10	1164	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	387			RS.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	ENST00000400809.3	37	c.1159C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	7.405	0.633581	0.14322	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.11495	2.77	5.15	3.3	0.37823	.	0.184288	0.35124	N	0.003425	T	0.12475	0.0303	M	0.74881	2.28	0.25930	N	0.983001	B	0.11235	0.004	B	0.04013	0.001	T	0.20273	-1.0280	10	0.49607	T	0.09	.	5.0055	0.14286	0.1656:0.0:0.5875:0.2469	.	387	Q96S94	CCNL2_HUMAN	C	387;214	ENSP00000383611:R387C	ENSP00000383611:R387C	R	-	1	0	CCNL2	1313072	0.302000	0.24454	0.019000	0.16419	0.580000	0.36256	0.657000	0.24963	0.760000	0.33108	-0.897000	0.02905	CGT		0.637	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		12	10	0	0	0	1	0	12	10				
CDHR1	92211	broad.mit.edu	37	10	85961614	85961614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:85961614C>T	ENST00000372117.3	+	7	680	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q193*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCTGCGCCTCCAGGCTGGGGC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(577-579)Cag>Tag		cadherin-related family member 1							58.0	61.0	60.0					10																	85961614		2203	4300	6503	SO:0001587	stop_gained	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85961614C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.577C>T	10.37:g.85961614C>T	ENSP00000361189:p.Gln193*					CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q193*	p.Q193*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			7	680	+			193			Cadherin 2.		Q69YZ8|Q8IXY5	Nonsense_Mutation	SNP	ENST00000372117.3	37	c.577C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	38	6.695032	0.97768	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	.	.	.	5.4	3.24	0.37175	.	0.344601	0.31859	N	0.006945	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-1.9975	10.7195	0.46032	0.4746:0.5254:0.0:0.0	.	.	.	.	X	193	.	ENSP00000331063:Q193X	Q	+	1	0	CDHR1	85951594	0.971000	0.33674	0.692000	0.30179	0.697000	0.40408	3.943000	0.56621	1.394000	0.46624	0.655000	0.94253	CAG		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		9	27	0	0	0	1	0	9	27				
COL11A1	1301	broad.mit.edu	37	1	103427755	103427755	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103427755C>T	ENST00000370096.3	-	40	3403	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	COL11A1_ENST00000512756.1_Missense_Mutation_p.E915K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E992K|COL11A1_ENST00000358392.2_Missense_Mutation_p.E1043K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1031	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTCTTTCCCCTGGGAAA	0.383																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3127-3129)Gaa>Aaa		collagen, type XI, alpha 1							83.0	87.0	86.0					1																	103427755		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427755C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3091G>A	1.37:g.103427755C>T	ENSP00000359114:p.Glu1031Lys					COL11A1_ENST00000512756.1_Missense_Mutation_p.E915K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1031K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E992K	p.E1043K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3444	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1031			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3127G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079554	0.76528	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.48	5.48	0.80851	.	0.115012	0.64402	D	0.000019	D	0.91696	0.7375	M	0.75264	2.295	0.80722	D	1	B;B;P;B;B	0.40180	0.409;0.356;0.705;0.243;0.229	B;B;B;B;B	0.38264	0.253;0.164;0.269;0.079;0.117	D	0.92712	0.6184	10	0.59425	D	0.04	.	19.3413	0.94342	0.0:1.0:0.0:0.0	.	915;992;1043;1031;251	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1031;1043;992;251;915	ENSP00000359114:E1031K;ENSP00000351163:E1043K;ENSP00000302551:E992K;ENSP00000426533:E915K	ENSP00000302551:E992K	E	-	1	0	COL11A1	103200343	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.682000	0.68182	2.556000	0.86216	0.557000	0.71058	GAA		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		35	32	0	0	0	1	0	35	32				
SYT7	9066	broad.mit.edu	37	11	61291312	61291312	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:61291312G>A	ENST00000263846.4	-	7	1221	c.894C>T	c.(892-894)atC>atT	p.I298I	SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000540677.1_Silent_p.I373I|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000539008.1_Silent_p.I581I|SYT7_ENST00000540831.1_5'Flank	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	298	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGCCCCCGATGTCCATGG	0.602																																						ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(892-894)atC>atT		synaptotagmin VII							299.0	283.0	288.0					11																	61291312		2202	4299	6501	SO:0001819	synonymous_variant	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61291312G>A	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.894C>T	11.37:g.61291312G>A						SYT7_ENST00000539008.1_Silent_p.I581I|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I	p.I298I	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			7	1221	-			298			C2 2.		F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	c.894C>T	CCDS31577.1																																																																																				0.602	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		105	183	0	0	0	1	0	105	183				
NTAN1	123803	broad.mit.edu	37	16	15134961	15134961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:15134961C>T	ENST00000287706.3	-	7	597	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	169					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						TTTTCGTTTTCTTCCCGGTCA	0.323																																						ENST00000287706.3																			0				endometrium(1)|large_intestine(4)|lung(3)	8						c.(505-507)Gaa>Aaa		N-terminal asparagine amidase							157.0	139.0	145.0					16																	15134961		2197	4300	6497	SO:0001583	missense	123803					cytoplasm		g.chr16:15134961C>T	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.505G>A	16.37:g.15134961C>T	ENSP00000287706:p.Glu169Lys					PDXDC1_ENST00000535621.2_Intron	p.E169K	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN			7	597	-			169					Q7Z4Z0	Missense_Mutation	SNP	ENST00000287706.3	37	c.505G>A	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082129	0.55861	.	.	ENSG00000157045	ENST00000287706	T	0.28255	1.62	4.43	4.43	0.53597	.	0.578628	0.17305	N	0.179095	T	0.25568	0.0622	L	0.37897	1.145	0.50171	D	0.999857	B	0.22003	0.063	B	0.19946	0.027	T	0.05683	-1.0870	10	0.12766	T	0.61	-19.4939	16.9281	0.86182	0.0:1.0:0.0:0.0	.	169	Q96AB6	NTAN1_HUMAN	K	169	ENSP00000287706:E169K	ENSP00000287706:E169K	E	-	1	0	NTAN1	15042462	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.559000	0.67326	2.409000	0.81822	0.655000	0.94253	GAA		0.323	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		18	44	0	0	0	1	0	18	44				
PIKFYVE	200576	broad.mit.edu	37	2	209167006	209167006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209167006C>T	ENST00000264380.4	+	10	1407	c.1249C>T	c.(1249-1251)Cgt>Tgt	p.R417C	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R320C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R417C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R331C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	417	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTTGATGGACGTTGGCTGGA	0.408																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(1249-1251)Cgt>Tgt		phosphoinositide kinase, FYVE finger containing							141.0	122.0	128.0					2																	209167006		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209167006C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1249C>T	2.37:g.209167006C>T	ENSP00000264380:p.Arg417Cys					PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R417C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R331C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R320C	p.R417C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			10	1407	+			417			DEP.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.1249C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246473	0.95305	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000392200;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.93	5.93	0.95920	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.45352	1.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.991;0.989;0.981;0.992	T	0.00419	-1.1751	10	0.54805	T	0.06	-16.0522	20.3507	0.98813	0.0:1.0:0.0:0.0	.	417;417;331;417;320	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	C	320;417;49;417;331;417	ENSP00000376038:R320C;ENSP00000264380:R417C;ENSP00000384356:R417C;ENSP00000308715:R331C;ENSP00000405736:R417C	ENSP00000264380:R417C	R	+	1	0	PIKFYVE	208875251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.808000	0.96608	0.655000	0.94253	CGT		0.408	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		21	10	0	0	0	1	0	21	10				
GLDC	2731	broad.mit.edu	37	9	6533117	6533117	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:6533117C>T	ENST00000321612.6	-	25	3113	c.2963G>A	c.(2962-2964)cGg>cAg	p.R988Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	988					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GTCATCAATCCGGGCAATCGT	0.463																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2962-2964)cGg>cAg		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						107.0	101.0	103.0					9																	6533117		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6533117C>T	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2963G>A	9.37:g.6533117C>T	ENSP00000370737:p.Arg988Gln						p.R988Q	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	25	3113	-		Acute lymphoblastic leukemia(23;0.161)	988					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.2963G>A	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309949	0.81247	.	.	ENSG00000178445	ENST00000321612	D	0.87809	-2.3	5.1	5.1	0.69264	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96194	0.9140	10	0.87932	D	0	-20.7419	18.9083	0.92472	0.0:1.0:0.0:0.0	.	988	P23378	GCSP_HUMAN	Q	988	ENSP00000370737:R988Q	ENSP00000370737:R988Q	R	-	2	0	GLDC	6523117	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	7.770000	0.85390	2.527000	0.85204	0.563000	0.77884	CGG		0.463	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		65	18	0	0	0	1	0	65	18				
CNTNAP2	26047	broad.mit.edu	37	7	147815307	147815307	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:147815307C>T	ENST00000361727.3	+	16	2997	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	827	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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)			CTTTCTACTTCAAAACATTAA	0.438										HNSCC(39;0.1)																												ENST00000361727.3																			0				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.(2479-2481)ttC>ttT		contactin associated protein-like 2							82.0	87.0	86.0					7																	147815307		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:147815307C>T	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.2481C>T	7.37:g.147815307C>T		HNSCC(39;0.1)					p.F827F	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		16	2997	+	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)	827			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2481C>T	CCDS5889.1																																																																																				0.438	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			34	63	0	0	0	1	0	34	63				
FDCSP	260436	broad.mit.edu	37	4	71096926	71096926	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:71096926C>T	ENST00000317987.5	+	2	127	c.15C>T	c.(13-15)ctC>ctT	p.L5L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	5						extracellular region (GO:0005576)											AGAAAGTTCTCCTCCTGATCA	0.338																																						ENST00000317987.5																			0											c.(13-15)ctC>ctT		follicular dendritic cell secreted protein							93.0	94.0	93.0					4																	71096926		2203	4299	6502	SO:0001819	synonymous_variant	260436					extracellular region		g.chr4:71096926C>T	AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.15C>T	4.37:g.71096926C>T							p.L5L	NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN			2	127	+			5						Silent	SNP	ENST00000317987.5	37	c.15C>T	CCDS3537.1																																																																																				0.338	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997		20	68	0	0	0	1	0	20	68				
NES	10763	broad.mit.edu	37	1	156640436	156640436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156640436C>T	ENST00000368223.3	-	4	3676	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1182	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCTGCTCCCCTGGGGGCC	0.642																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3544-3546)Gga>Aga		nestin							69.0	73.0	72.0					1																	156640436		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640436C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3544G>A	1.37:g.156640436C>T	ENSP00000357206:p.Gly1182Arg						p.G1182R	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3676	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1182			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3544G>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016831	0.35606	.	.	ENSG00000132688	ENST00000368223	D	0.85629	-2.01	4.81	0.696	0.18075	.	2.344390	0.02145	N	0.057515	T	0.69033	0.3066	L	0.46157	1.445	0.09310	N	1	B	0.23249	0.082	B	0.29267	0.1	T	0.58578	-0.7612	10	0.72032	D	0.01	.	5.7195	0.17978	0.0:0.6072:0.1428:0.25	.	1182	P48681	NEST_HUMAN	R	1182	ENSP00000357206:G1182R	ENSP00000357206:G1182R	G	-	1	0	NES	154907060	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.552000	0.23376	0.090000	0.17273	0.455000	0.32223	GGA		0.642	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		24	78	0	0	0	1	0	24	78				
CDH10	1008	broad.mit.edu	37	5	24488015	24488015	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488015C>T	ENST00000264463.4	-	12	2631	c.2124G>A	c.(2122-2124)acG>acA	p.T708T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	708					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCCGGACGTCCGTGTTATCTG	0.473										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2122-2124)acG>acA		cadherin 10, type 2 (T2-cadherin)							81.0	87.0	85.0					5																	24488015		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488015C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2124G>A	5.37:g.24488015C>T		HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.T708T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2631	-			708					Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.2124G>A	CCDS3892.1																																																																																				0.473	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		30	47	0	0	0	1	0	30	47				
PCDH9	5101	broad.mit.edu	37	13	67799718	67799718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:67799718G>A	ENST00000377865.2	-	1	2989	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	PCDH9_ENST00000456367.1_Missense_Mutation_p.P952L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952L|PCDH9_ENST00000544246.1_Missense_Mutation_p.P952L			Q9HC56	PCDH9_HUMAN	protocadherin 9	952					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGAGTGTCTGGTTTGAGATG	0.512																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(2854-2856)cCa>cTa		protocadherin 9							143.0	144.0	143.0					13																	67799718		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799718G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2855C>T	13.37:g.67799718G>A	ENSP00000367096:p.Pro952Leu					PCDH9_ENST00000377865.2_Missense_Mutation_p.P952L|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952L	p.P952L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3546	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	952					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2855C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361167	0.61403	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.73	5.73	0.89815	Protocadherin (1);	0.057400	0.64402	D	0.000001	T	0.62405	0.2425	M	0.68952	2.095	0.80722	D	1	P;D;P;P	0.55800	0.934;0.973;0.757;0.934	P;P;P;P	0.59643	0.788;0.861;0.682;0.861	T	0.63853	-0.6543	10	0.87932	D	0	.	19.9002	0.96983	0.0:0.0:1.0:0.0	.	952;952;952;952	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	L	952	ENSP00000442186:P952L;ENSP00000367096:P952L;ENSP00000401699:P952L;ENSP00000332060:P952L;ENSP00000367092:P952L	ENSP00000332060:P952L	P	-	2	0	PCDH9	66697719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	CCA		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		37	70	0	0	0	1	0	37	70				
CLEC16A	23274	broad.mit.edu	37	16	11118684	11118684	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11118684C>T	ENST00000409790.1	+	13	1673	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	CLEC16A_ENST00000409552.3_Silent_p.F463F|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGACCCTTCCTGGATATGG	0.542																																						ENST00000409790.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1441-1443)ttC>ttT		C-type lectin domain family 16, member A							69.0	71.0	71.0					16																	11118684		2067	4223	6290	SO:0001819	synonymous_variant	23274							g.chr16:11118684C>T	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1443C>T	16.37:g.11118684C>T						CLEC16A_ENST00000409552.3_Silent_p.F463F|CLEC16A_ENST00000465491.1_3'UTR	p.F481F	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN			13	1673	+			481						Silent	SNP	ENST00000409790.1	37	c.1443C>T	CCDS45409.1																																																																																				0.542	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226		5	9	0	0	0	1	0	5	9				
R3HCC1L	27291	broad.mit.edu	37	10	99968792	99968792	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99968792C>T	ENST00000298999.3	+	5	1224	c.921C>T	c.(919-921)tcC>tcT	p.S307S	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.S307S	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	307							nucleotide binding (GO:0000166)										ATACAGATTCCATTCCTGCAA	0.398																																						ENST00000298999.3																			0											c.(919-921)tcC>tcT		R3H domain and coiled-coil containing 1-like							121.0	111.0	115.0					10																	99968792		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99968792C>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.921C>T	10.37:g.99968792C>T						R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.S307S	p.S307S	NM_014472.4	NP_055287.4					5	1224	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.921C>T	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.958674	0.00465	.	.	ENSG00000166024	ENST00000538495	.	.	.	5.18	1.27	0.21489	.	.	.	.	.	T	0.32315	0.0825	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.25467	-1.0131	4	.	.	.	-0.2232	7.1829	0.25782	0.0:0.6296:0.0:0.3704	.	.	.	.	L	307	.	.	P	+	2	0	C10orf28	99958782	0.896000	0.30565	0.277000	0.24703	0.030000	0.12068	0.169000	0.16641	-0.020000	0.14032	-0.136000	0.14681	CCA		0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		38	81	0	0	0	1	0	38	81				
RXFP2	122042	broad.mit.edu	37	13	32366042	32366042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:32366042C>G	ENST00000298386.2	+	15	1316	c.1245C>G	c.(1243-1245)aaC>aaG	p.N415K	RXFP2_ENST00000380314.1_Missense_Mutation_p.N391K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	415					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTTGGCTAACAATATCCTCA	0.383																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1243-1245)aaC>aaG		relaxin/insulin-like family peptide receptor 2							168.0	153.0	158.0					13																	32366042		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32366042C>G	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1245C>G	13.37:g.32366042C>G	ENSP00000298386:p.Asn415Lys					RXFP2_ENST00000380314.1_Missense_Mutation_p.N391K	p.N415K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	15	1316	+		Lung SC(185;0.0262)	415					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1245C>G	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364431	0.41902	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.35973	1.28;1.28	5.62	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	L	0.54323	1.7	0.54753	D	0.999981	B;B	0.33299	0.402;0.407	B;B	0.42112	0.171;0.376	T	0.17379	-1.0371	10	0.27082	T	0.32	.	12.383	0.55317	0.0:0.9185:0.0:0.0815	.	391;415	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	K	391;415	ENSP00000369670:N391K;ENSP00000298386:N415K	ENSP00000298386:N415K	N	+	3	2	RXFP2	31264042	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.479000	0.45197	1.397000	0.46682	0.655000	0.94253	AAC		0.383	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		33	51	0	0	0	1	0	33	51				
AKR1A1	10327	broad.mit.edu	37	1	46032265	46032265	+	Missense_Mutation	SNP	C	C	T	rs199650864		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:46032265C>T	ENST00000372070.3	+	4	856	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	AKR1A1_ENST00000471651.1_Missense_Mutation_p.L37F|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L37F	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	37					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TAAGTATGCCCTTAGCGTAGG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21556	0.0		0.0	False		,,,				2504	0.0					ENST00000372070.3																			0				lung(3)|prostate(1)|urinary_tract(1)	5						c.(109-111)Ctt>Ttt		aldo-keto reductase family 1, member A1 (aldehyde reductase)							122.0	105.0	110.0					1																	46032265		2203	4300	6503	SO:0001583	missense	10327				glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	g.chr1:46032265C>T	J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"""Aldo-keto reductases"""	380	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 3"""	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.109C>T	1.37:g.46032265C>T	ENSP00000361140:p.Leu37Phe					AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L37F	p.L37F	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN			4	856	+	Acute lymphoblastic leukemia(166;0.155)		37					A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	ENST00000372070.3	37	c.109C>T	CCDS523.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	22.8	4.340356	0.81911	.	.	ENSG00000117448	ENST00000372070;ENST00000434299;ENST00000351829	T;T;T	0.26957	1.7;1.7;1.7	6.13	2.24	0.28232	NADP-dependent oxidoreductase domain (3);	0.062945	0.64402	D	0.000005	T	0.35189	0.0923	M	0.71871	2.18	0.58432	D	0.999993	P	0.45594	0.862	P	0.48227	0.571	T	0.15206	-1.0445	10	0.87932	D	0	.	10.9527	0.47339	0.0:0.7505:0.0:0.2495	.	37	P14550	AK1A1_HUMAN	F	37	ENSP00000361140:L37F;ENSP00000398414:L37F;ENSP00000312606:L37F	ENSP00000312606:L37F	L	+	1	0	AKR1A1	45804852	0.856000	0.29760	0.997000	0.53966	0.994000	0.84299	1.644000	0.37228	0.182000	0.20032	0.644000	0.83932	CTT		0.527	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020851.1	NM_006066		28	81	0	0	0	1	0	28	81				
SLC26A7	115111	broad.mit.edu	37	8	92401586	92401586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:92401586C>T	ENST00000276609.3	+	16	1935	c.1696C>T	c.(1696-1698)Cct>Tct	p.P566S	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P566S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P566S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACAGTCCTGCCCTAATGAGAA	0.423																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1696-1698)Cct>Tct		solute carrier family 26 (anion exchanger), member 7							300.0	287.0	291.0					8																	92401586		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92401586C>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1696C>T	8.37:g.92401586C>T	ENSP00000276609:p.Pro566Ser					SLC26A7_ENST00000523719.1_Missense_Mutation_p.P566S|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P566S	p.P566S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		16	1935	+			566			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1696C>T	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472621	0.26423	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.87571	-2.27;-2.27;-2.27	5.62	-1.98	0.07480	Sulphate transporter/antisigma-factor antagonist STAS (4);	1.311360	0.04865	N	0.444867	T	0.74061	0.3667	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.54497	-0.8285	10	0.24483	T	0.36	.	1.1877	0.01859	0.2174:0.3798:0.1065:0.2963	.	566;566	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	S	566	ENSP00000428849:P566S;ENSP00000276609:P566S;ENSP00000309504:P566S	ENSP00000276609:P566S	P	+	1	0	SLC26A7	92470762	0.000000	0.05858	0.005000	0.12908	0.667000	0.39255	0.025000	0.13577	-0.476000	0.06842	0.563000	0.77884	CCT		0.423	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			70	150	0	0	0	1	0	70	150				
TRGC2	6967	broad.mit.edu	37	7	38288965	38288965	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:38288965C>T	ENST00000436911.2	-	0	208							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										AGCTAAATTTCATGTATGTGT	0.388																																						ENST00000436911.2																			0																				233.0	217.0	222.0					7																	38288965		1885	4107	5992			6967							g.chr7:38288965C>T	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38288965C>T														0	208	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.388	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		66	87	0	0	0	1	0	66	87				
DPY19L2P2	349152	broad.mit.edu	37	7	102898138	102898138	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102898138C>T	ENST00000312132.4	-	0	2434							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TTCACTATTCCCATGAATGTG	0.333																																						ENST00000312132.4																			0																																																			349152							g.chr7:102898138C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102898138C>T														0	2434	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.333	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		46	55	0	0	0	1	0	46	55				
OR10AD1	121275	broad.mit.edu	37	12	48596794	48596794	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48596794G>A	ENST00000310248.2	-	1	376	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AACATACAAAGGAGACAATGT	0.498																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(280-282)tcC>tcT		olfactory receptor, family 10, subfamily AD, member 1							112.0	95.0	101.0					12																	48596794		2203	4300	6503	SO:0001819	synonymous_variant	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596794G>A		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.282C>T	12.37:g.48596794G>A							p.S94S	NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN			1	376	-			94					B9EGT9|Q6IFA8	Silent	SNP	ENST00000310248.2	37	c.282C>T	CCDS31787.1																																																																																				0.498	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			15	19	0	0	0	1	0	15	19				
PSG8	440533	broad.mit.edu	37	19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:43258544G>A	ENST00000306511.4	-	5	1281	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000404209.4_Missense_Mutation_p.S395F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1183-1185)tCt>tTt		pregnancy specific beta-1-glycoprotein 8							187.0	202.0	197.0					19																	43258544		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43258544G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1184C>T	19.37:g.43258544G>A	ENSP00000305005:p.Ser395Phe					PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F	p.S395F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1280	-		Prostate(69;0.00899)	395			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1184C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	2.433	-0.330352	0.05314	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	1.28	-2.57	0.06248	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09335	0.0230	L	0.42487	1.325	0.09310	N	1	B;B;B;B;B;B	0.32324	0.191;0.085;0.364;0.02;0.045;0.056	B;B;B;B;B;B	0.39590	0.191;0.102;0.304;0.029;0.061;0.101	T	0.39482	-0.9612	9	0.08599	T	0.76	.	0.1673	0.00109	0.3599:0.2156:0.2088:0.2157	.	273;302;395;302;395;395	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	395;177;273;302;207;302;395	ENSP00000385869:S395F;ENSP00000385081:S273F;ENSP00000386090:S302F;ENSP00000305005:S395F	ENSP00000292109:S177F	S	-	2	0	PSG8	47950384	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.265000	0.02844	-1.879000	0.01126	-0.708000	0.03648	TCT		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			101	185	0	0	0	1	0	101	185				
CELSR2	1952	broad.mit.edu	37	1	109801499	109801499	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3754-3756)tcC>tcT		cadherin, EGF LAG seven-pass G-type receptor 2							45.0	38.0	40.0					1																	109801499		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801499C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3756C>T	1.37:g.109801499C>T							p.S1252S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3817	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1252			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3756C>T	CCDS796.1																																																																																				0.692	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		8	7	0	0	0	1	0	8	7				
NEURL4	84461	broad.mit.edu	37	17	7221174	7221174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221174G>A	ENST00000399464.2	-	26	4153	c.4138C>T	c.(4138-4140)Cac>Tac	p.H1380Y	NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Silent_p.P193P|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000570460.1_Missense_Mutation_p.H1356Y|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.H1378Y|GPS2_ENST00000389167.5_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCCTGTGGGCCTCGTCT	0.587																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4138-4140)Cac>Tac		neuralized E3 ubiquitin protein ligase 4							49.0	54.0	52.0					17																	7221174		2094	4232	6326	SO:0001583	missense	84461							g.chr17:7221174G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4138C>T	17.37:g.7221174G>A	ENSP00000382390:p.His1380Tyr					NEURL4_ENST00000315614.7_Missense_Mutation_p.H1378Y|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Missense_Mutation_p.H1356Y|RP11-542C16.2_ENST00000575474.1_Silent_p.P193P	p.H1380Y	NM_032442.2	NP_115818.2					26	4153	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.4138C>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596886	0.46318	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.26957	1.7;1.7	4.91	3.95	0.45737	.	0.062130	0.64402	D	0.000003	T	0.05364	0.0142	N	0.00583	-1.355	0.29794	N	0.832958	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33163	-0.9879	10	0.02654	T	1	-12.5601	6.5595	0.22479	0.2722:0.0:0.7278:0.0	.	1378;1380	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	Y	1378;1380	ENSP00000319826:H1378Y;ENSP00000382390:H1380Y	ENSP00000319826:H1378Y	H	-	1	0	NEURL4	7161898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.295000	0.72744	1.288000	0.44600	0.455000	0.32223	CAC		0.587	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		31	26	0	0	0	1	0	31	26				
DNASE1L1	1774	broad.mit.edu	37	X	153641566	153641566	+	5'Flank	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153641566C>T	ENST00000393638.1	-	0	0				TAZ_ENST00000475699.1_Silent_p.I87I|TAZ_ENST00000350743.4_Silent_p.I87I|TAZ_ENST00000299328.5_Silent_p.I87I|TAZ_ENST00000351413.4_Silent_p.I87I|DNASE1L1_ENST00000369809.1_5'Flank|TAZ_ENST00000369776.4_Silent_p.I62I|TAZ_ENST00000369790.4_Silent_p.I87I	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TCCGCCACATCTGGAACCTGA	0.607																																						ENST00000299328.5																			0				lung(1)	1						c.(259-261)atC>atT		tafazzin							72.0	55.0	61.0					X																	153641566		2202	4299	6501	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153641566C>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153641566C>T	Exception_encountered					TAZ_ENST00000369776.4_Silent_p.I62I|TAZ_ENST00000350743.4_Silent_p.I87I|TAZ_ENST00000351413.4_Silent_p.I87I|TAZ_ENST00000369790.4_Silent_p.I87I	p.I87I	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			3	550	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		87					D3DWW7|Q5HY41	Silent	SNP	ENST00000393638.1	37	c.261C>T	CCDS14747.1																																																																																				0.607	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			20	42	0	0	0	1	0	20	42				
CPSF2	53981	broad.mit.edu	37	14	92625555	92625555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92625555G>A	ENST00000298875.4	+	14	2335	c.2050G>A	c.(2050-2052)Gga>Aga	p.G684R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	684					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCTGTTCGGAGATGATGA	0.413																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(2050-2052)Gga>Aga		cleavage and polyadenylation specific factor 2, 100kDa							96.0	99.0	98.0					14																	92625555		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92625555G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2050G>A	14.37:g.92625555G>A	ENSP00000298875:p.Gly684Arg						p.G684R	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	14	2335	+		all_cancers(154;0.0766)	684					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.2050G>A	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882164	0.72294	.	.	ENSG00000165934	ENST00000298875	T	0.43294	0.95	5.08	5.08	0.68730	.	0.055765	0.64402	D	0.000001	T	0.53417	0.1795	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	P	0.60068	0.868	T	0.45920	-0.9228	10	0.29301	T	0.29	.	18.4879	0.90836	0.0:0.0:1.0:0.0	.	684	Q9P2I0	CPSF2_HUMAN	R	684	ENSP00000298875:G684R	ENSP00000298875:G684R	G	+	1	0	CPSF2	91695308	1.000000	0.71417	0.970000	0.41538	0.892000	0.51952	7.484000	0.81180	2.346000	0.79739	0.591000	0.81541	GGA		0.413	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			28	40	0	0	0	1	0	28	40				
EP400	57634	broad.mit.edu	37	12	132471079	132471079	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132471079C>T	ENST00000333577.4	+	7	2167	c.2058C>T	c.(2056-2058)ctC>ctT	p.L686L	EP400_ENST00000389561.2_Silent_p.L650L|EP400_ENST00000389562.2_Silent_p.L649L|EP400_ENST00000332482.4_Silent_p.L613L|EP400_ENST00000330386.6_Silent_p.L650L			Q96L91	EP400_HUMAN	E1A binding protein p400	686					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGACAAGGCTCCCTGTGGACC	0.652																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(2056-2058)ctC>ctT		E1A binding protein p400							73.0	68.0	69.0					12																	132471079		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132471079C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2058C>T	12.37:g.132471079C>T						EP400_ENST00000389561.2_Silent_p.L650L|EP400_ENST00000330386.6_Silent_p.L650L|EP400_ENST00000389562.2_Silent_p.L649L|EP400_ENST00000332482.4_Silent_p.L613L	p.L686L			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	7	2167	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	686					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.2058C>T																																																																																					0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		38	95	0	0	0	1	0	38	95				
TGM5	9333	broad.mit.edu	37	15	43552363	43552363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43552363G>A	ENST00000220420.5	-	3	330	c.323C>T	c.(322-324)cCc>cTc	p.P108L	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	108					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGCCGCCGTGGGAGGAGCGCA	0.612																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(322-324)cCc>cTc		transglutaminase 5	L-Glutamine(DB00130)						55.0	64.0	61.0					15																	43552363		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552363G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.323C>T	15.37:g.43552363G>A	ENSP00000220420:p.Pro108Leu					TGM5_ENST00000349114.4_Intron	p.P108L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	3	330	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	108					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.323C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238803	0.58995	.	.	ENSG00000104055	ENST00000220420;ENST00000396996	D	0.89746	-2.56	5.33	5.33	0.75918	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.126739	0.53938	D	0.000048	D	0.93390	0.7892	M	0.83774	2.66	0.80722	D	1	D	0.55800	0.973	P	0.61003	0.882	D	0.93712	0.7025	10	0.72032	D	0.01	-22.0066	11.9193	0.52783	0.0:0.0:0.8262:0.1738	.	108	O43548	TGM5_HUMAN	L	108;107	ENSP00000220420:P108L	ENSP00000220420:P108L	P	-	2	0	TGM5	41339655	0.995000	0.38212	0.357000	0.25798	0.674000	0.39518	5.514000	0.67043	2.648000	0.89879	0.655000	0.94253	CCC		0.612	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		45	62	0	0	0	1	0	45	62				
ZNF185	7739	broad.mit.edu	37	X	152113854	152113854	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:152113854G>A	ENST00000370268.4	+	16	1289	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R	ZNF185_ENST00000449285.2_Missense_Mutation_p.G419R|ZNF185_ENST00000539731.1_Missense_Mutation_p.G421R|ZNF185_ENST00000318529.8_Missense_Mutation_p.G197R|ZNF185_ENST00000370270.2_Missense_Mutation_p.G450R|ZNF185_ENST00000454925.1_Missense_Mutation_p.G56R|ZNF185_ENST00000324823.6_Missense_Mutation_p.G186R|ZNF185_ENST00000318504.7_Missense_Mutation_p.G359R|ZNF185_ENST00000535861.1_Missense_Mutation_p.G450R			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	418						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGGGTCGGAGAGGCCTG	0.582																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(1348-1350)Gga>Aga		zinc finger protein 185 (LIM domain)							24.0	28.0	27.0					X																	152113854		1949	4110	6059	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152113854G>A	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1252G>A	X.37:g.152113854G>A	ENSP00000359291:p.Gly418Arg					ZNF185_ENST00000539731.1_Missense_Mutation_p.G421R|ZNF185_ENST00000318504.7_Missense_Mutation_p.G359R|ZNF185_ENST00000318529.8_Missense_Mutation_p.G197R|ZNF185_ENST00000449285.2_Missense_Mutation_p.G419R|ZNF185_ENST00000370268.4_Missense_Mutation_p.G418R|ZNF185_ENST00000324823.6_Missense_Mutation_p.G186R|ZNF185_ENST00000370270.1_Missense_Mutation_p.G181R	p.G450R	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			17	1396	+	Acute lymphoblastic leukemia(192;6.56e-05)		418					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.1348G>A	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.251|0.251	-1.006157|-1.006157	0.02112|0.02112	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000370270;ENST00000436731|ENST00000426821	T;T;T;T;T|.	0.48201|.	0.82;0.82;0.86;0.86;0.86|.	2.54|2.54	-1.61|-1.61	0.08399|0.08399	.|.	.|.	.|.	.|.	.|.	T|T	0.18800|0.18800	0.0451|0.0451	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B;B|.	0.16166|.	0.001;0.001;0.001;0.003;0.003;0.001;0.003;0.016;0.013|.	B;B;B;B;B;B;B;B;B|.	0.16722|.	0.001;0.001;0.001;0.003;0.003;0.002;0.002;0.016;0.003|.	T|T	0.29701|0.29701	-1.0003|-1.0003	9|5	0.18710|.	T|.	0.47|.	.|.	6.8891|6.8891	0.24220|0.24220	0.4519:0.0:0.5481:0.0|0.4519:0.0:0.5481:0.0	.|.	419;359;389;421;450;418;56;197;181|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2|.	.;.;.;.;.;ZN185_HUMAN;.;.;.|.	R|Q	450;421;419;359;253;186;284;418;197;181;123|203	ENSP00000440847:G450R;ENSP00000444367:G421R;ENSP00000395228:G419R;ENSP00000312782:G359R;ENSP00000359291:G418R|.	ENSP00000312782:G359R|.	G|R	+|+	1|2	0|0	ZNF185|ZNF185	151864510|151864510	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.050000|0.050000	0.14768|0.14768	-0.073000|-0.073000	0.11468|0.11468	-0.604000|-0.604000	0.05760|0.05760	-1.448000|-1.448000	0.01049|0.01049	GGA|CGG		0.582	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		5	11	0	0	0	1	0	5	11				
FMOD	2331	broad.mit.edu	37	1	203317164	203317164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317164C>A	ENST00000354955.4	-	2	698	c.235G>T	c.(235-237)Gag>Tag	p.E79*	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	79	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGTCGCACTCCTGGGGGCAG	0.597																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(235-237)Gag>Tag		fibromodulin							51.0	48.0	49.0					1																	203317164		2203	4300	6503	SO:0001587	stop_gained	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203317164C>A	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.235G>T	1.37:g.203317164C>A	ENSP00000347041:p.Glu79*					FMOD_ENST00000464898.1_Splice_Site	p.E79*	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	698	-			79			Cys-rich.|LRRNT.		Q15331|Q8IV47	Nonsense_Mutation	SNP	ENST00000354955.4	37	c.235G>T	CCDS30976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.103597|4.103597	0.76983|0.76983	.|.	.|.	ENSG00000122176|ENSG00000122176	ENST00000435105;ENST00000354955|ENST00000539467	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68256	.|0.2981	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62918	.|-0.6752	.|4	0.72032|0.23302	D|T	0.01|0.38	-12.2075|-12.2075	17.8192|17.8192	0.88645|0.88645	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|S	79|59	.|.	ENSP00000347041:E79X|ENSP00000438680:R59S	E|R	-|-	1|3	0|2	FMOD|FMOD	201583787|201583787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.466000|7.466000	0.80914|0.80914	2.540000|2.540000	0.85666|0.85666	0.563000|0.563000	0.77884|0.77884	GAG|AGG		0.597	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		11	9	1	0	6.40141e-05	1	6.42256e-05	11	9				
ADAD1	132612	broad.mit.edu	37	4	123302227	123302227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:123302227G>A	ENST00000296513.2	+	4	438	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ADAD1_ENST00000388725.2_Missense_Mutation_p.E67K|ADAD1_ENST00000388724.2_Missense_Mutation_p.E85K|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	85					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.E85K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATACCTAAGGAATTTATAAT	0.368																																						ENST00000296513.2																			1	Substitution - Missense(1)	p.E85K(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(253-255)Gaa>Aaa		adenosine deaminase domain containing 1 (testis-specific)							70.0	79.0	76.0					4																	123302227		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302227G>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.253G>A	4.37:g.123302227G>A	ENSP00000296513:p.Glu85Lys					ADAD1_ENST00000388724.2_Missense_Mutation_p.E85K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E67K|ADAD1_ENST00000492454.1_3'UTR	p.E85K	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	438	+			85					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.253G>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475730	0.84640	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.33216	1.42;1.43;1.43	5.23	4.37	0.52481	.	0.277559	0.35466	N	0.003193	T	0.35278	0.0926	L	0.32530	0.975	0.43084	D	0.994748	D;B	0.67145	0.996;0.344	P;B	0.61800	0.894;0.177	T	0.03315	-1.1049	10	0.08381	T	0.77	-21.0095	13.1832	0.59666	0.0807:0.0:0.9193:0.0	.	85;85	Q96M93-2;Q96M93	.;ADAD1_HUMAN	K	85;85;85;85;67	ENSP00000296513:E85K;ENSP00000373376:E85K;ENSP00000373377:E67K	ENSP00000296513:E85K	E	+	1	0	ADAD1	123521677	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.832000	0.48152	2.423000	0.82170	0.563000	0.77884	GAA		0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		33	37	0	0	0	1	0	33	37				
ARID1A	8289	broad.mit.edu	37	1	27101169	27101169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:27101169C>T	ENST00000324856.7	+	18	4822	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1101L|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1484					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGGGCGGCCCCATACAGGCA	0.567			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4450-4452)cCc>cTc		AT rich interactive domain 1A (SWI-like)							63.0	66.0	65.0					1																	27101169		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101169C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4451C>T	1.37:g.27101169C>T	ENSP00000320485:p.Pro1484Leu					ARID1A_ENST00000374152.2_Missense_Mutation_p.P1101L|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	p.P1484L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4822	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1484					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4451C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572305	0.65765	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.02974	4.27;4.09	5.54	5.54	0.83059	.	0.114853	0.64402	D	0.000008	T	0.04724	0.0128	L	0.29908	0.895	0.80722	D	1	P;P;P	0.43750	0.782;0.816;0.816	B;B;B	0.43916	0.324;0.436;0.436	T	0.43245	-0.9403	10	0.87932	D	0	-10.0372	17.8476	0.88734	0.0:1.0:0.0:0.0	.	1101;1484;1137	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	L	1484;1101	ENSP00000320485:P1484L;ENSP00000363267:P1101L	ENSP00000320485:P1484L	P	+	2	0	ARID1A	26973756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.871000	0.56077	2.890000	0.99128	0.650000	0.86243	CCC		0.567	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		29	65	0	0	0	1	0	29	65				
CCDC132	55610	broad.mit.edu	37	7	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:92983007C>T	ENST00000305866.5	+	26	2647	c.2519C>T	c.(2518-2520)cCc>cTc	p.P840L	CCDC132_ENST00000535481.1_Missense_Mutation_p.P560L|CCDC132_ENST00000544910.1_Missense_Mutation_p.P810L|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	840						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCGCATACCCTTGCCTGTG	0.343																																						ENST00000544910.1																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(2428-2430)cCc>cTc		coiled-coil domain containing 132							179.0	171.0	173.0					7																	92983007		1857	4091	5948	SO:0001583	missense	55610							g.chr7:92983007C>T	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2519C>T	7.37:g.92983007C>T	ENSP00000307666:p.Pro840Leu					CCDC132_ENST00000305866.5_Missense_Mutation_p.P840L|CCDC132_ENST00000535481.1_Missense_Mutation_p.P560L|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR	p.P810L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		27	2649	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		840					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2429C>T	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282392	0.95489	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000535481	.	.	.	5.52	5.52	0.82312	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.997	D	0.84916	0.0851	9	0.72032	D	0.01	-8.396	19.8284	0.96626	0.0:1.0:0.0:0.0	.	560;810;840	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	L	840;810;560	.	ENSP00000307666:P840L	P	+	2	0	CCDC132	92820943	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.667000	0.83888	2.772000	0.95346	0.650000	0.86243	CCC		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		63	86	0	0	0	1	0	63	86				
EFHB	151651	broad.mit.edu	37	3	19975465	19975465	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:19975465C>T	ENST00000295824.9	-	1	207	c.46G>A	c.(46-48)Gga>Aga	p.G16R	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	16							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTTGTCTCCTAAATCATCC	0.483																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(46-48)Gga>Aga		EF-hand domain family, member B							41.0	40.0	40.0					3																	19975465		1886	4116	6002	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19975465C>T	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.46G>A	3.37:g.19975465C>T	ENSP00000295824:p.Gly16Arg					EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	p.G16R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			1	207	-			16					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.46G>A	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435415	0.12045	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.23950	1.88;2.18	3.51	-0.712	0.11226	.	.	.	.	.	T	0.10723	0.0262	N	0.12746	0.255	0.19300	N	0.999973	B	0.12013	0.005	B	0.06405	0.002	T	0.33701	-0.9858	8	.	.	.	-10.8882	3.4385	0.07454	0.0:0.4145:0.2023:0.3832	.	16	Q8N7U6	EFHB_HUMAN	R	16	ENSP00000295824:G16R;ENSP00000373908:G16R	.	G	-	1	0	EFHB	19950469	0.000000	0.05858	0.003000	0.11579	0.169000	0.22640	-0.260000	0.08708	-0.155000	0.11098	0.484000	0.47621	GGA		0.483	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		7	10	0	0	0	1	0	7	10				
SLC39A12	221074	broad.mit.edu	37	10	18250715	18250715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:18250715C>T	ENST00000377369.2	+	3	740	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SLC39A12_ENST00000377371.3_Missense_Mutation_p.S156F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S156F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S22F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	156					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GATGAAGATTCCTCTTTCCTT	0.403																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(466-468)tCc>tTc		solute carrier family 39 (zinc transporter), member 12							80.0	83.0	82.0					10																	18250715		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250715C>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.467C>T	10.37:g.18250715C>T	ENSP00000366586:p.Ser156Phe					SLC39A12_ENST00000539911.1_Missense_Mutation_p.S22F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S156F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S156F	p.S156F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			3	740	+			156					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.467C>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463112	0.63513	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.63255	0.11;-0.01;0.11;-0.03	5.59	3.66	0.41972	.	0.604741	0.17863	N	0.159464	T	0.68339	0.2990	M	0.63428	1.95	0.28653	N	0.906536	D;D;D	0.59357	0.985;0.974;0.985	P;P;P	0.56823	0.807;0.646;0.807	T	0.62353	-0.6872	10	0.59425	D	0.04	-3.3637	8.4319	0.32764	0.1304:0.5493:0.3203:0.0	.	156;156;156	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	156;156;156;22;76	ENSP00000366586:S156F;ENSP00000366591:S156F;ENSP00000366588:S156F;ENSP00000440445:S22F	ENSP00000366586:S156F	S	+	2	0	SLC39A12	18290721	0.996000	0.38824	0.846000	0.33378	0.955000	0.61496	3.099000	0.50267	2.619000	0.88677	0.650000	0.86243	TCC		0.403	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		20	43	0	0	0	1	0	20	43				
TRPC1	7220	broad.mit.edu	37	3	142525009	142525009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:142525009C>T	ENST00000476941.1	+	13	2800	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	TRPC1_ENST00000273482.6_Nonsense_Mutation_p.R738*	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	772					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GTCAAAATTCCGAAATGAAAT	0.363																																						ENST00000273482.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(2212-2214)Cga>Tga		transient receptor potential cation channel, subfamily C, member 1							82.0	81.0	82.0					3																	142525009		2203	4300	6503	SO:0001587	stop_gained	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142525009C>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2314C>T	3.37:g.142525009C>T	ENSP00000419313:p.Arg772*					TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R772*	p.R738*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			12	2603	+			772					Q14CE4	Nonsense_Mutation	SNP	ENST00000476941.1	37	c.2212C>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	C	40	8.282877	0.98742	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	.	.	.	5.59	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5995	13.7233	0.62743	0.2791:0.7209:0.0:0.0	.	.	.	.	X	772;738	.	ENSP00000273482:R738X	R	+	1	2	TRPC1	144007699	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.353000	0.44089	1.345000	0.45676	0.563000	0.77884	CGA		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		20	35	0	0	0	1	0	20	35				
PIK3R5	23533	broad.mit.edu	37	17	8785189	8785189	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:8785189T>G	ENST00000447110.1	-	16	2339	c.2215A>C	c.(2215-2217)Agt>Cgt	p.S739R	PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	739	Interaction with beta-gamma G protein dimers. {ECO:0000250}.				blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTTCGTCCACTGATGGCCCCC	0.612																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(2215-2217)Agt>Cgt		phosphoinositide-3-kinase, regulatory subunit 5							75.0	69.0	71.0					17																	8785189		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8785189T>G	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.2215A>C	17.37:g.8785189T>G	ENSP00000392812:p.Ser739Arg					PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738R	p.S739R	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			16	2339	-			739			Interaction with G beta gamma proteins (By similarity).		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.2215A>C	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982722	0.34942	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.84146	-1.81	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.87712	0.6246	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.89208	0.3562	10	0.87932	D	0	-9.746	13.8674	0.63596	0.0:0.0:0.0:1.0	.	739	Q8WYR1	PI3R5_HUMAN	R	739	ENSP00000392812:S739R	ENSP00000269300:S739R	S	-	1	0	PIK3R5	8725914	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.071000	0.76770	1.954000	0.56735	0.379000	0.24179	AGT		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		9	13	0	0	0	1	0	9	13				
MRPS17	51373	broad.mit.edu	37	7	56020908	56020908	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:56020908C>T	ENST00000285298.4	+	2	149	c.20C>T	c.(19-21)tCc>tTc	p.S7F	MRPS17_ENST00000426595.1_Missense_Mutation_p.S102F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	7					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCGCTCATCCGTCCATGCC	0.433																																						ENST00000285298.4																			0				kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(19-21)tCc>tTc		mitochondrial ribosomal protein S17							210.0	187.0	195.0					7																	56020908		2203	4300	6503	SO:0001583	missense	51373				translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr7:56020908C>T	AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.20C>T	7.37:g.56020908C>T	ENSP00000285298:p.Ser7Phe					MRPS17_ENST00000426595.1_Missense_Mutation_p.S102F	p.S7F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	149	+	Breast(14;0.214)		7					Q86X15	Missense_Mutation	SNP	ENST00000285298.4	37	c.20C>T	CCDS5520.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.585210	0.46110	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	T	0.00949	5.51	5.05	3.22	0.36961	.	0.393578	0.21692	N	0.070548	T	0.01287	0.0042	L	0.46157	1.445	0.09310	N	0.999999	B;P	0.41748	0.359;0.761	B;B	0.38562	0.066;0.276	T	0.48068	-0.9067	10	0.66056	D	0.02	.	11.2459	0.48996	0.1435:0.7186:0.1379:0.0	.	7;19	Q9Y2R5;Q8IY71	RT17_HUMAN;.	F	102;7;7	ENSP00000390331:S102F	ENSP00000285298:S7F	S	+	2	0	MRPS17;RP11-15K19.2	55988402	0.921000	0.31238	0.291000	0.24904	0.299000	0.27559	3.339000	0.52135	0.689000	0.31550	0.563000	0.77884	TCC		0.433	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2	NM_015969		72	68	0	0	0	1	0	72	68				
GPATCH8	23131	broad.mit.edu	37	17	42477276	42477276	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42477276G>A	ENST00000591680.1	-	8	2199	c.2169C>T	c.(2167-2169)gcC>gcT	p.A723A	GPATCH8_ENST00000434000.1_Silent_p.A645A	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	723							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AATCTGCTGGGGCTGATGACT	0.517																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1933-1935)gcC>gcT		G patch domain containing 8							156.0	154.0	155.0					17																	42477276		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477276G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2169C>T	17.37:g.42477276G>A						GPATCH8_ENST00000591680.1_Silent_p.A723A	p.A645A			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2217	-		Prostate(33;0.0181)	723					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.1935C>T	CCDS32666.1																																																																																				0.517	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		45	68	0	0	0	1	0	45	68				
PLA2G4D	283748	broad.mit.edu	37	15	42363026	42363026	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42363026G>A	ENST00000290472.3	-	18	2026	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	644	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGTCCACCAGGCAGAGCCGGG	0.632																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1930-1932)tgC>tgT		phospholipase A2, group IVD (cytosolic)							70.0	68.0	69.0					15																	42363026		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363026G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1932C>T	15.37:g.42363026G>A							p.C644C	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	18	2026	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	644			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1932C>T	CCDS32203.1																																																																																				0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		7	11	0	0	0	1	0	7	11				
SIX3	6496	broad.mit.edu	37	2	45169510	45169510	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:45169510G>A	ENST00000260653.3	+	1	609	c.267G>A	c.(265-267)ccG>ccA	p.P89P	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	89	Interaction with AES. {ECO:0000250|UniProtKB:Q62233}.				brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACTTCTCGCCGGAGCAGGTGG	0.746																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(265-267)ccG>ccA		SIX homeobox 3							11.0	13.0	13.0					2																	45169510		1703	3687	5390	SO:0001819	synonymous_variant	6496				visual perception	nucleus		g.chr2:45169510G>A	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.267G>A	2.37:g.45169510G>A							p.P89P	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	609	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	89					D6W5A5|Q53T42	Silent	SNP	ENST00000260653.3	37	c.267G>A	CCDS1821.1																																																																																				0.746	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		10	19	0	0	0	1	0	10	19				
SLC43A2	124935	broad.mit.edu	37	17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1519990C>T	ENST00000301335.5	-	3	322	c.234G>A	c.(232-234)tgG>tgA	p.W78*	SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Nonsense_Mutation_p.W78*	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)tgG>tgA		solute carrier family 43 (amino acid system L transporter), member 2							87.0	68.0	74.0					17																	1519990		2203	4300	6503	SO:0001587	stop_gained	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1519990C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.234G>A	17.37:g.1519990C>T	ENSP00000301335:p.Trp78*					SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*	p.W78*			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	3	540	-			78					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Nonsense_Mutation	SNP	ENST00000301335.5	37	c.234G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792493	0.96945	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-18.1599	18.4373	0.90650	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000301335:W78X	W	-	3	0	SLC43A2	1466740	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.438000	0.66550	2.773000	0.95371	0.655000	0.94253	TGG		0.592	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		23	38	0	0	0	1	0	23	38				
FGFR4	2264	broad.mit.edu	37	5	176520155	176520155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520155G>A	ENST00000292408.4	+	9	1319	c.1074G>A	c.(1072-1074)tgG>tgA	p.W358*	FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	ACCCCACATGGACCGCAGCAG	0.642										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1072-1074)tgG>tgA		fibroblast growth factor receptor 4	Palifermin(DB00039)						49.0	39.0	42.0					5																	176520155		2202	4300	6502	SO:0001587	stop_gained	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520155G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1074G>A	5.37:g.176520155G>A	ENSP00000292408:p.Trp358*	TSP Lung(9;0.080)				FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*	p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1319	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	358					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Nonsense_Mutation	SNP	ENST00000292408.4	37	c.1074G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824094	0.90873	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000377207	.	.	.	5.18	5.18	0.71444	.	1.475670	0.03659	N	0.242312	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.3199	0.90234	0.0:0.0:1.0:0.0	.	.	.	.	X	358;358;358;586	.	ENSP00000292408:W358X	W	+	3	0	FGFR4	176452761	1.000000	0.71417	0.959000	0.39883	0.021000	0.10359	4.927000	0.63440	2.424000	0.82194	0.561000	0.74099	TGG		0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			14	16	0	0	0	1	0	14	16				
CREBBP	1387	broad.mit.edu	37	16	3781357	3781357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:3781357G>A	ENST00000262367.5	-	30	5817	c.5008C>T	c.(5008-5010)Ctc>Ttc	p.L1670F	CREBBP_ENST00000382070.3_Missense_Mutation_p.L1632F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1670	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				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)		TCTCTGGCGAGGGTGAGGAAG	0.662			"""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.(5008-5010)Ctc>Ttc		CREB binding protein							77.0	53.0	61.0					16																	3781357		2197	4300	6497	SO:0001583	missense	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.chr16:3781357G>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.5008C>T	16.37:g.3781357G>A	ENSP00000262367:p.Leu1670Phe					CREBBP_ENST00000382070.3_Missense_Mutation_p.L1632F	p.L1670F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	30	5817	-		Ovarian(90;0.0266)	1670			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.5008C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	12.06	1.824452	0.32237	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.86297	-2.1;-2.03	5.87	1.8	0.24995	.	0.000000	0.64402	D	0.000018	D	0.90445	0.7008	M	0.73753	2.245	0.53688	D	0.999972	D;D	0.76494	0.999;0.999	D;D	0.64144	0.922;0.922	D	0.88069	0.2799	10	0.49607	T	0.09	-21.4219	8.4102	0.32638	0.4126:0.0:0.5874:0.0	.	1700;1670	Q4LE28;Q92793	.;CBP_HUMAN	F	1670;1700;1632;205	ENSP00000262367:L1670F;ENSP00000371502:L1632F	ENSP00000262367:L1670F	L	-	1	0	CREBBP	3721358	0.499000	0.26083	0.659000	0.29680	0.937000	0.57800	0.864000	0.27926	0.402000	0.25451	0.655000	0.94253	CTC		0.662	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	10	0	0	0	1	0	5	10				
FCRL2	79368	broad.mit.edu	37	1	157737157	157737157	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157737157C>T	ENST00000361516.3	-	6	1074	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	FCRL2_ENST00000469986.1_Silent_p.G89G|FCRL2_ENST00000392274.3_Silent_p.G342G|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	342	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCGAGCTGTTCCCAAGGGTGA	0.582																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1024-1026)ggG>ggA		Fc receptor-like 2							72.0	79.0	76.0					1																	157737157		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737157C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1026G>A	1.37:g.157737157C>T						FCRL2_ENST00000392274.3_Silent_p.G342G|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.G89G	p.G342G	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1074	-	all_hematologic(112;0.0378)		342			Ig-like C2-type 4.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.1026G>A	CCDS1168.1																																																																																				0.582	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		31	71	0	0	0	1	0	31	71				
DENND2A	27147	broad.mit.edu	37	7	140218518	140218518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140218518G>A	ENST00000275884.6	-	19	3436	c.3019C>T	c.(3019-3021)Cac>Tac	p.H1007Y	DENND2A_ENST00000496613.1_Missense_Mutation_p.H1007Y|DENND2A_ENST00000537639.1_Missense_Mutation_p.H1007Y			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	1007					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TATTTCTTGTGGAGAAATTTC	0.428																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(3019-3021)Cac>Tac		DENN/MADD domain containing 2A							65.0	64.0	64.0					7																	140218518		1834	4082	5916	SO:0001583	missense	27147							g.chr7:140218518G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.3019C>T	7.37:g.140218518G>A	ENSP00000275884:p.His1007Tyr					DENND2A_ENST00000537639.1_Missense_Mutation_p.H1007Y|DENND2A_ENST00000496613.1_Missense_Mutation_p.H1007Y	p.H1007Y			Q9ULE3	DEN2A_HUMAN			19	3436	-	Melanoma(164;0.00956)		1007					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.3019C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627630	0.66901	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613	T;T;T	0.05925	3.37;3.37;3.37	4.55	4.55	0.56014	.	0.127880	0.56097	D	0.000036	T	0.10937	0.0267	L	0.34521	1.04	0.34077	D	0.659112	P	0.42649	0.786	P	0.49012	0.598	T	0.05683	-1.0870	10	0.87932	D	0	-28.9788	16.0845	0.81031	0.0:0.0:1.0:0.0	.	1007	Q9ULE3	DEN2A_HUMAN	Y	1007	ENSP00000275884:H1007Y;ENSP00000442245:H1007Y;ENSP00000419654:H1007Y	ENSP00000275884:H1007Y	H	-	1	0	DENND2A	139864987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.928000	0.63447	2.533000	0.85409	0.555000	0.69702	CAC		0.428	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		12	38	0	0	0	1	0	12	38				
HTR1D	3352	broad.mit.edu	37	1	23520170	23520170	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:23520170G>A	ENST00000374619.1	-	1	1052	c.543C>T	c.(541-543)gcC>gcT	p.A181A	HTR1D_ENST00000314113.3_Silent_p.A181A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCTCCTCCTGGGCCTTGGCCT	0.602																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(541-543)gcC>gcT		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						55.0	62.0	60.0					1																	23520170		2203	4300	6503	SO:0001819	synonymous_variant	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23520170G>A	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.543C>T	1.37:g.23520170G>A						HTR1D_ENST00000314113.3_Silent_p.A181A	p.A181A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1052	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	181						Silent	SNP	ENST00000374619.1	37	c.543C>T	CCDS231.1																																																																																				0.602	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		20	42	0	0	0	1	0	20	42				
A1CF	29974	broad.mit.edu	37	10	52573681	52573681	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573681C>T	ENST00000373993.1	-	8	1327	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Missense_Mutation_p.G421E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.2_Missense_Mutation_p.G420E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E|A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|A1CF_ENST00000282641.2_Missense_Mutation_p.G428E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GAGCTCCATCCCAGGTAAAAT	0.463																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1261-1263)gGg>gAg		APOBEC1 complementation factor							155.0	154.0	154.0					10																	52573681		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573681C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1283G>A	10.37:g.52573681C>T	ENSP00000363105:p.Gly428Glu					A1CF_ENST00000282641.2_Missense_Mutation_p.G428E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.G420E|A1CF_ENST00000373993.1_Missense_Mutation_p.G428E|A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E|A1CF_ENST00000493415.1_5'UTR	p.G421E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1658	-			428					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1262G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304541	0.81136	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.15256	2.58;2.58;2.58;2.58;2.58;2.44;2.58	5.87	5.87	0.94306	.	0.092211	0.85682	D	0.000000	T	0.41696	0.1170	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.986;0.996	D;D;P;D	0.68192	0.956;0.911;0.791;0.922	T	0.12066	-1.0562	10	0.87932	D	0	-7.9151	17.713	0.88327	0.0:1.0:0.0:0.0	.	421;428;420;428	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	420;428;420;428;428;373;403;421	ENSP00000363113:G420E;ENSP00000363105:G428E;ENSP00000363109:G420E;ENSP00000363107:G428E;ENSP00000282641:G428E;ENSP00000378873:G373E;ENSP00000378868:G421E	ENSP00000282641:G428E	G	-	2	0	A1CF	52243687	1.000000	0.71417	0.998000	0.56505	0.571000	0.35966	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	GGG		0.463	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		35	62	0	0	0	1	0	35	62				
DNAH5	1767	broad.mit.edu	37	5	13830774	13830774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13830774C>T	ENST00000265104.4	-	36	6097	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACGTATTTCCCGAGGCATCG	0.488									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(5992-5994)gGg>gAg		dynein, axonemal, heavy chain 5							143.0	139.0	140.0					5																	13830774		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13830774C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5993G>A	5.37:g.13830774C>T	ENSP00000265104:p.Gly1998Glu						p.G1998E	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			36	6097	-	Lung NSC(4;0.00476)		1998			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5993G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444191	0.83993	.	.	ENSG00000039139	ENST00000265104	T	0.51817	0.69	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89203	0.3559	10	0.87932	D	0	.	19.4895	0.95044	0.0:1.0:0.0:0.0	.	1998	Q8TE73	DYH5_HUMAN	E	1998	ENSP00000265104:G1998E	ENSP00000265104:G1998E	G	-	2	0	DNAH5	13883774	1.000000	0.71417	0.989000	0.46669	0.721000	0.41392	7.818000	0.86416	2.596000	0.87737	0.655000	0.94253	GGG		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		33	48	0	0	0	1	0	33	48				
SPO11	23626	broad.mit.edu	37	20	55905032	55905032	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:55905032G>A	ENST00000371263.3	+	1	218	c.109G>A	c.(109-111)Ggg>Agg	p.G37R	SPO11_ENST00000371260.4_Missense_Mutation_p.G37R|SPO11_ENST00000345868.4_Missense_Mutation_p.G37R	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	37					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCCCCCAACTGGGGGAAGCCG	0.677								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(109-111)Ggg>Agg	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							15.0	16.0	15.0					20																	55905032		2201	4300	6501	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55905032G>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.109G>A	20.37:g.55905032G>A	ENSP00000360310:p.Gly37Arg					SPO11_ENST00000371260.4_Missense_Mutation_p.G37R|SPO11_ENST00000345868.4_Missense_Mutation_p.G37R	p.G37R	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		1	218	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		37					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.109G>A	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	G	6.229	0.410423	0.11812	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	3.86	-2.73	0.05950	Meiosis-specific protein Spo11 (1);	1.075150	0.07206	N	0.858259	T	0.51143	0.1657	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.27331	-1.0077	10	0.25106	T	0.35	0.2156	4.128	0.10136	0.3604:0.3344:0.3052:0.0	.	37;37	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	R	37;37;37;15	ENSP00000360310:G37R;ENSP00000316034:G37R;ENSP00000360307:G37R;ENSP00000413185:G15R	ENSP00000316034:G37R	G	+	1	0	SPO11	55338439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.301000	0.08232	-0.328000	0.08539	-0.479000	0.04858	GGG		0.677	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		10	14	0	0	0	1	0	10	14				
ITM2A	9452	broad.mit.edu	37	X	78622602	78622602	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:78622602C>T	ENST00000373298.2	-	1	254	c.111G>A	c.(109-111)aaG>aaA	p.K37K	ITM2A_ENST00000469541.1_5'Flank|ITM2A_ENST00000434584.2_Splice_Site_p.K37K	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	37						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGACAGCTACCTTGCCGGTCA	0.622																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.e1+1		integral membrane protein 2A							27.0	22.0	24.0					X																	78622602		2203	4299	6502	SO:0001630	splice_region_variant	9452					integral to membrane	protein binding	g.chrX:78622602C>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.111+1G>A	X.37:g.78622602C>T						ITM2A_ENST00000373298.2_Splice_Site_p.K37_splice	p.K37_splice	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			1	447	-			37					B2R7X5|B4E062|Q6IBC9	Splice_Site	SNP	ENST00000373298.2	37	c.111_splice	CCDS14444.1																																																																																				0.622	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867	Silent	6	10	0	0	0	1	0	6	10				
CBLB	868	broad.mit.edu	37	3	105586348	105586348	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:105586348A>T	ENST00000264122.4	-	2	395	c.74T>A	c.(73-75)aTt>aAt	p.I25N	CBLB_ENST00000403724.1_Missense_Mutation_p.I25N|CBLB_ENST00000405772.1_Missense_Mutation_p.I25N|CBLB_ENST00000394027.3_Missense_Mutation_p.I47N|CBLB_ENST00000545639.1_Missense_Mutation_p.I47N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	25					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AGCATCAATAATACCCAAAAT	0.473			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(73-75)aTt>aAt		Cbl proto-oncogene B, E3 ubiquitin protein ligase							128.0	123.0	125.0					3																	105586348		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105586348A>T	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.74T>A	3.37:g.105586348A>T	ENSP00000264122:p.Ile25Asn					CBLB_ENST00000394027.3_Missense_Mutation_p.I47N|CBLB_ENST00000405772.1_Missense_Mutation_p.I25N|CBLB_ENST00000545639.1_Missense_Mutation_p.I47N|CBLB_ENST00000403724.1_Missense_Mutation_p.I25N	p.I25N	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			2	395	-			25					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.74T>A	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608337	0.66558	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	D;D;D;D	0.85861	-2.02;-2.01;-2.02;-2.04	5.24	5.24	0.73138	.	0.174489	0.46758	D	0.000261	T	0.82093	0.4962	N	0.14661	0.345	0.54753	D	0.999982	D;P;P	0.57257	0.979;0.955;0.95	P;P;P	0.53861	0.642;0.643;0.736	D	0.85545	0.1218	10	0.87932	D	0	-14.6208	14.1273	0.65230	1.0:0.0:0.0:0.0	.	47;25;25	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	N	25;47;25;25;47;47;25;25	ENSP00000264122:I25N;ENSP00000377595:I47N;ENSP00000384816:I25N;ENSP00000384938:I25N	ENSP00000264122:I25N	I	-	2	0	CBLB	107069038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.235000	0.89803	1.988000	0.58038	0.455000	0.32223	ATT		0.473	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		67	73	0	0	0	1	0	67	73				
PARP4	143	broad.mit.edu	37	13	25064876	25064876	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:25064876T>C	ENST00000381989.3	-	10	1249	c.1144A>G	c.(1144-1146)Att>Gtt	p.I382V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	382	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACATGCTCAATTTTGCACCTC	0.408																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1144-1146)Att>Gtt		poly (ADP-ribose) polymerase family, member 4							138.0	132.0	134.0					13																	25064876		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25064876T>C	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1144A>G	13.37:g.25064876T>C	ENSP00000371419:p.Ile382Val						p.I382V	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	10	1249	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	382			PARP catalytic.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1144A>G	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.780869	0.70222	.	.	ENSG00000102699	ENST00000381989	T	0.15952	2.38	4.84	4.84	0.62591	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.142257	0.44688	U	0.000435	T	0.45935	0.1367	M	0.87456	2.885	0.37903	D	0.93112	D	0.63046	0.992	D	0.79108	0.992	T	0.58831	-0.7567	10	0.87932	D	0	-19.0537	12.4017	0.55416	0.0:0.0:0.0:1.0	.	382	Q9UKK3	PARP4_HUMAN	V	382	ENSP00000371419:I382V	ENSP00000371419:I382V	I	-	1	0	PARP4	23962876	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.333000	0.43912	2.023000	0.59567	0.445000	0.29226	ATT		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		31	52	0	0	0	1	0	31	52				
XIRP2	129446	broad.mit.edu	37	2	168115396	168115396	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:168115396G>A	ENST00000409728.1	+	11	2528	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Silent_p.L780L|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Silent_p.L780L|XIRP2_ENST00000420519.1_Silent_p.L813L|XIRP2_ENST00000409605.1_Silent_p.L558L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAATGGCTCTGAAGAAACAGA	0.428																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2437-2439)ctG>ctA		xin actin-binding repeat containing 2							36.0	35.0	35.0					2																	168115396		1847	4095	5942	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115396G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2439G>A	2.37:g.168115396G>A						XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.L558L|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.L813L|XIRP2_ENST00000409756.2_Silent_p.L780L|XIRP2_ENST00000409043.1_Silent_p.L780L|XIRP2_ENST00000409195.1_3'UTR	p.L813L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2528	+			102					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	c.2439G>A	CCDS56143.1																																																																																				0.428	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		12	25	0	0	0	1	0	12	25				
C8orf31	286122	broad.mit.edu	37	8	144124662	144124662	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144124662G>T	ENST00000395172.1	+	3	521	c.169G>T	c.(169-171)Gag>Tag	p.E57*	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	57										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGAGATCTGGGAGTCCACAAC	0.607																																						ENST00000395172.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.(169-171)Gag>Tag		chromosome 8 open reading frame 31							36.0	39.0	38.0					8																	144124662		2203	4300	6503	SO:0001587	stop_gained	286122							g.chr8:144124662G>T		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.169G>T	8.37:g.144124662G>T	ENSP00000378601:p.Glu57*					C8orf31_ENST00000517653.1_3'UTR	p.E57*	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			3	521	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		57					Q6GMU7	Nonsense_Mutation	SNP	ENST00000395172.1	37	c.169G>T	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.949386	0.53186	.	.	ENSG00000177335	ENST00000395172	.	.	.	1.55	-0.552	0.11818	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.0721	0.03616	0.2099:0.0:0.4797:0.3103	.	.	.	.	X	57	.	ENSP00000378601:E57X	E	+	1	0	C8orf31	144196037	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.052000	0.14163	-0.159000	0.11021	-0.889000	0.02933	GAG		0.607	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		8	13	1	0	0.00307968	1	0.00308522	8	13				
AMZ2	51321	broad.mit.edu	37	17	66251959	66251959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:66251959C>T	ENST00000359904.3	+	6	2001	c.869C>T	c.(868-870)cCt>cTt	p.P290L	AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.P232L|AMZ2_ENST00000577985.1_Missense_Mutation_p.P290L|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000392720.2_Missense_Mutation_p.P290L|AMZ2_ENST00000577866.1_Missense_Mutation_p.P290L|AMZ2_ENST00000580753.1_Missense_Mutation_p.P290L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	290							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACCTTTGCCCTATCTGTTTG	0.507																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(868-870)cCt>cTt		archaelysin family metallopeptidase 2							70.0	67.0	68.0					17																	66251959		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251959C>T	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.869C>T	17.37:g.66251959C>T	ENSP00000352976:p.Pro290Leu					AMZ2_ENST00000392720.2_Missense_Mutation_p.P290L|AMZ2_ENST00000577866.1_Missense_Mutation_p.P290L|AMZ2_ENST00000359783.4_Missense_Mutation_p.P232L|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.P290L|AMZ2_ENST00000580753.1_Missense_Mutation_p.P290L	p.P290L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2001	+	all_cancers(12;1.12e-09)		290					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.869C>T	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133034	0.77662	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.47869	0.83;0.83;0.83	3.64	3.64	0.41730	.	0.000000	0.64402	D	0.000004	T	0.66406	0.2786	M	0.92169	3.28	0.80722	D	1	D;P	0.56521	0.976;0.698	P;B	0.51806	0.68;0.444	T	0.77360	-0.2617	10	0.72032	D	0.01	-15.6072	13.6086	0.62063	0.0:1.0:0.0:0.0	.	232;290	A6NLD9;Q86W34	.;AMZ2_HUMAN	L	290;232;290	ENSP00000352976:P290L;ENSP00000352831:P232L;ENSP00000376481:P290L	ENSP00000352831:P232L	P	+	2	0	AMZ2	63763554	0.997000	0.39634	0.998000	0.56505	0.939000	0.58152	6.355000	0.73041	2.311000	0.77944	0.467000	0.42956	CCT		0.507	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		23	37	0	0	0	1	0	23	37				
KCNH5	27133	broad.mit.edu	37	14	63269171	63269171	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:63269171G>A	ENST00000322893.7	-	9	1966	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	KCNH5_ENST00000420622.2_Silent_p.F566F|KCNH5_ENST00000394968.1_Silent_p.F508F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	566					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAATGGTTTGGAACTCTACCG	0.512																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1696-1698)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 5							91.0	83.0	86.0					14																	63269171		2203	4300	6503	SO:0001819	synonymous_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63269171G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1698C>T	14.37:g.63269171G>A						KCNH5_ENST00000394968.1_Silent_p.F508F|KCNH5_ENST00000420622.2_Silent_p.F566F	p.F566F	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1966	-			566					C9JP98	Silent	SNP	ENST00000322893.7	37	c.1698C>T	CCDS9756.1																																																																																				0.512	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		23	47	0	0	0	1	0	23	47				
IFIT3	3437	broad.mit.edu	37	10	91099088	91099088	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:91099088G>A	ENST00000371818.4	+	2	856	c.676G>A	c.(676-678)Gga>Aga	p.G226R	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226R|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	226					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						AGAAGCTGAAGGAGAGCAGTT	0.443																																						ENST00000371818.4																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						c.(676-678)Gga>Aga		interferon-induced protein with tetratricopeptide repeats 3							55.0	61.0	59.0					10																	91099088		2203	4300	6503	SO:0001583	missense	3437				type I interferon-mediated signaling pathway		protein binding	g.chr10:91099088G>A	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.676G>A	10.37:g.91099088G>A	ENSP00000360883:p.Gly226Arg					LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226R|LIPA_ENST00000371837.1_Intron	p.G226R	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN			2	856	+			226					Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	c.676G>A	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267895	0.40095	.	.	ENSG00000119917	ENST00000371818;ENST00000371811;ENST00000543062	T;T	0.38560	1.13;1.13	4.48	4.48	0.54585	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.319390	0.32287	N	0.006308	T	0.70159	0.3192	M	0.88241	2.94	0.38979	D	0.958904	D	0.89917	1.0	D	0.76575	0.988	T	0.78094	-0.2338	10	0.87932	D	0	-7.1155	17.4294	0.87535	0.0:0.0:1.0:0.0	.	226	O14879	IFIT3_HUMAN	R	226;226;47	ENSP00000360883:G226R;ENSP00000360876:G226R	ENSP00000360876:G226R	G	+	1	0	IFIT3	91089068	1.000000	0.71417	0.405000	0.26409	0.018000	0.09664	4.212000	0.58514	2.791000	0.96007	0.655000	0.94253	GGA		0.443	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549		28	27	0	0	0	1	0	28	27				
IGHM	3507	broad.mit.edu	37	14	106321105	106321105	+	RNA	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106321105C>A	ENST00000390559.2	-	0	883				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.5_ENST00000582202.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCCGGAATTCCAGTCATCCTC	0.612																																						ENST00000390559.2																			0																				95.0	113.0	107.0					14																	106321105		2112	4204	6316			3507							g.chr14:106321105C>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106321105C>A														0	883	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.612	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		12	21	1	0	3.07112e-06	1	3.08868e-06	12	21				
OR52L1	338751	broad.mit.edu	37	11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6008078G>A	ENST00000332249.4	-	1	137	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(82-84)cCt>cTt		olfactory receptor, family 52, subfamily L, member 1							47.0	46.0	47.0					11																	6008078		1848	4093	5941	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6008078G>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.83C>T	11.37:g.6008078G>A	ENSP00000330338:p.Pro28Leu						p.P28L	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	137	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.83C>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908287	0.17833	.	.	ENSG00000183313	ENST00000332249	T	0.00316	8.13	3.8	2.84	0.33178	.	0.428864	0.17351	N	0.177413	T	0.00144	0.0004	N	0.12471	0.22	0.34901	D	0.746518	B	0.13145	0.007	B	0.09377	0.004	T	0.59888	-0.7369	10	0.40728	T	0.16	.	10.9754	0.47463	0.1046:0.0:0.8954:0.0	.	28	Q8NGH7	O52L1_HUMAN	L	28	ENSP00000330338:P28L	ENSP00000330338:P28L	P	-	2	0	OR52L1	5964654	0.878000	0.30173	0.983000	0.44433	0.415000	0.31203	3.281000	0.51685	1.827000	0.53221	0.313000	0.20887	CCT		0.468	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		12	31	0	0	0	1	0	12	31				
COL4A5	1287	broad.mit.edu	37	X	107920799	107920799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107920799C>T	ENST00000361603.2	+	42	4104	c.3860C>T	c.(3859-3861)cCa>cTa	p.P1287L	Y_RNA_ENST00000384417.1_RNA|COL4A5_ENST00000328300.6_Missense_Mutation_p.P1293L	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1287	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGGAAATCCAGGCCAACCT	0.483									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3877-3879)cCa>cTa		collagen, type IV, alpha 5							93.0	79.0	84.0					X																	107920799		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107920799C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3860C>T	X.37:g.107920799C>T	ENSP00000354505:p.Pro1287Leu					COL4A5_ENST00000361603.2_Missense_Mutation_p.P1287L	p.P1293L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			44	4122	+			1287			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3878C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124588	0.77436	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95554	-3.74;-3.74	5.41	5.41	0.78517	.	0.057241	0.64402	D	0.000001	D	0.97393	0.9147	M	0.72576	2.205	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.971	D	0.97987	1.0352	10	0.72032	D	0.01	.	18.5073	0.90902	0.0:1.0:0.0:0.0	.	1290;1287	E7EVY4;P29400	.;CO4A5_HUMAN	L	1293;1287;1293	ENSP00000331902:P1293L;ENSP00000354505:P1287L	ENSP00000331902:P1293L	P	+	2	0	COL4A5	107807455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.738000	0.68613	2.400000	0.81607	0.594000	0.82650	CCA		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			41	44	0	0	0	1	0	41	44				
PCDHB12	56124	broad.mit.edu	37	5	140589607	140589607	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140589607G>A	ENST00000239450.2	+	1	1317	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	PCDHB12_ENST00000541609.1_Silent_p.G39G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACTCTGGGGACAACGGAA	0.453																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1126-1128)ggG>ggA									71.0	67.0	69.0					5																	140589607		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589607G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1128G>A	5.37:g.140589607G>A						PCDHB12_ENST00000541609.1_Silent_p.G39G	p.G376G	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1317	+			376			Cadherin 4.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1128G>A	CCDS4254.1																																																																																				0.453	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		28	35	0	0	0	1	0	28	35				
HOXD1	3231	broad.mit.edu	37	2	177054765	177054765	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:177054765C>T	ENST00000331462.4	+	2	1105	c.882C>T	c.(880-882)gcC>gcT	p.A294A	HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000425005.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000452365.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	294					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GGCTTCTGGCCACGGCCATTC	0.532																																						ENST00000331462.4																			0				kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10						c.(880-882)gcC>gcT		homeobox D1							110.0	118.0	116.0					2																	177054765		2203	4300	6503	SO:0001819	synonymous_variant	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177054765C>T		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.882C>T	2.37:g.177054765C>T							p.A294A	NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	2	1105	+			294					B2RAB4	Silent	SNP	ENST00000331462.4	37	c.882C>T	CCDS2271.1																																																																																				0.532	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			51	78	0	0	0	1	0	51	78				
EXOSC7	23016	broad.mit.edu	37	3	45052822	45052822	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:45052822C>T	ENST00000265564.7	+	8	915	c.867C>T	c.(865-867)ttC>ttT	p.F289F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	289					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGTTGGATTCCTGGGATGAT	0.448																																						ENST00000265564.7																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(865-867)ttC>ttT		exosome component 7							71.0	68.0	69.0					3																	45052822		2203	4300	6503	SO:0001819	synonymous_variant	23016				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr3:45052822C>T	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.867C>T	3.37:g.45052822C>T						CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	p.F289F	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)	8	915	+			289					Q96E72	Silent	SNP	ENST00000265564.7	37	c.867C>T	CCDS2725.1																																																																																				0.448	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		10	18	0	0	0	1	0	10	18				
VAX1	11023	broad.mit.edu	37	10	118897433	118897433	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:118897433C>T	ENST00000369206.5	-	1	134	c.135G>A	c.(133-135)aaG>aaA	p.K45K	VAX1_ENST00000277905.2_Silent_p.K45K	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	45					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCTGCGGCTCCTTGAGGAAGG	0.652																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(133-135)aaG>aaA		ventral anterior homeobox 1							40.0	48.0	45.0					10																	118897433		2203	4300	6503	SO:0001819	synonymous_variant	11023					nucleus	sequence-specific DNA binding	g.chr10:118897433C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.135G>A	10.37:g.118897433C>T						VAX1_ENST00000369206.5_Silent_p.K45K	p.K45K	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	1	379	-			45					B1AVW5|Q6ZSX0	Silent	SNP	ENST00000369206.5	37	c.135G>A	CCDS44483.1																																																																																				0.652	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		30	58	0	0	0	1	0	30	58				
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	C	T	rs375894475		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:219289047C>T	ENST00000248444.5	+	3	211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_ENST00000440053.1_Silent_p.F41F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	41	Core.|Necessary for homodimerization.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(121-123)ttC>ttT		villin 1		C		1,4405	2.1+/-5.4	0,1,2202	98.0	90.0	93.0		123	-1.3	1.0	2		93	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		41/828	219289047	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219289047C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.123C>T	2.37:g.219289047C>T						VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F41F	p.F41F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	211	+		Renal(207;0.0474)	41			Core.|Necessary for homodimerization.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.123C>T	CCDS2417.1																																																																																				0.592	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		39	22	0	0	0	1	0	39	22				
MEOX2	4223	broad.mit.edu	37	7	15666370	15666370	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:15666370C>T	ENST00000262041.5	-	2	1100		c.e2+1			NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2						angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CCCAGCTTTACCTGTCTTTCA	0.393																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.e2+1		mesenchyme homeobox 2							198.0	173.0	182.0					7																	15666370		2203	4300	6503	SO:0001630	splice_region_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15666370C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.690+1G>A	7.37:g.15666370C>T								NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	2	1100	-								B2R8I7|O75263|Q9UPL6	Splice_Site	SNP	ENST00000262041.5	37		CCDS34605.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883876	0.91814	.	.	ENSG00000106511	ENST00000262041	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEOX2	15632895	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.764000	0.94973	0.655000	0.94253	.		0.393	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924	Intron	45	52	0	0	0	1	0	45	52				
MYO10	4651	broad.mit.edu	37	5	16701760	16701760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:16701760G>A	ENST00000513610.1	-	25	3198	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	MYO10_ENST00000427430.2_Missense_Mutation_p.S272F|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000274203.9_Missense_Mutation_p.S272F|MYO10_ENST00000515803.1_Missense_Mutation_p.S254F|MYO10_ENST00000505695.1_Missense_Mutation_p.S254F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	915	Mediates antiparallel dimerization.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTCTGCAGGGAAGCCTCGGT	0.607																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2743-2745)tCc>tTc		myosin X							29.0	33.0	32.0					5																	16701760		2125	4253	6378	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701760G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2744C>T	5.37:g.16701760G>A	ENSP00000421280:p.Ser915Phe					MYO10_ENST00000515803.1_Missense_Mutation_p.S254F|MYO10_ENST00000505695.1_Missense_Mutation_p.S254F|MYO10_ENST00000427430.2_Missense_Mutation_p.S272F|MYO10_ENST00000274203.9_Missense_Mutation_p.S272F	p.S915F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3198	-			915					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2744C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647357	0.87958	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.0	5.0	0.66597	.	.	.	.	.	T	0.54838	0.1883	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.995;0.996	P;P	0.59221	0.854;0.823	T	0.60146	-0.7320	9	0.72032	D	0.01	.	18.3304	0.90267	0.0:0.0:1.0:0.0	.	556;915	Q69YP8;Q9HD67	.;MYO10_HUMAN	F	915;254;272;254;272	ENSP00000421280:S915F;ENSP00000425051:S254F;ENSP00000274203:S272F;ENSP00000421170:S254F;ENSP00000391106:S272F	ENSP00000274203:S272F	S	-	2	0	MYO10	16754760	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.824000	0.86668	2.312000	0.78011	0.563000	0.77884	TCC		0.607	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	20	0	0	0	1	0	11	20				
C17orf97	400566	broad.mit.edu	37	17	263083	263083	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:263083C>T	ENST00000360127.6	+	2	465	c.449C>T	c.(448-450)aCc>aTc	p.T150I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	150										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GACTCCTCCACCGTCAGCCTC	0.522																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(448-450)aCc>aTc		chromosome 17 open reading frame 97							122.0	116.0	118.0					17																	263083		2203	4300	6503	SO:0001583	missense	400566							g.chr17:263083C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.449C>T	17.37:g.263083C>T	ENSP00000353245:p.Thr150Ile					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.T150I	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	465	+			150					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.449C>T	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154517	0.57259	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.48201	1.37;0.82	5.02	-1.42	0.08913	.	0.752314	0.11406	N	0.567315	T	0.32882	0.0844	L	0.29908	0.895	0.09310	N	0.999999	P	0.47962	0.903	P	0.45639	0.488	T	0.19976	-1.0289	10	0.56958	D	0.05	-0.7522	2.4603	0.04539	0.3001:0.2918:0.3144:0.0938	.	150	Q6ZQX7-4	.	I	150;144	ENSP00000353245:T150I;ENSP00000419482:T144I	ENSP00000353245:T150I	T	+	2	0	C17orf97	263399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.579000	0.05834	0.019000	0.15079	0.655000	0.94253	ACC		0.522	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		32	59	0	0	0	1	0	32	59				
CDC34	997	broad.mit.edu	37	19	536324	536324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536324C>T	ENST00000215574.4	+	3	564	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	116					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTGGAACCCCACGCAGAA	0.642																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(346-348)Ccc>Tcc		cell division cycle 34							53.0	56.0	55.0					19																	536324		2194	4298	6492	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:536324C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.346C>T	19.37:g.536324C>T	ENSP00000215574:p.Pro116Ser						p.P116S	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	564	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	116					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.346C>T	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814648	0.70912	.	.	ENSG00000099804	ENST00000215574	T	0.51325	0.71	5.19	5.19	0.71726	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79212	-0.1896	10	0.87932	D	0	-1.9109	17.3606	0.87349	0.0:1.0:0.0:0.0	.	116	P49427	UB2R1_HUMAN	S	116	ENSP00000215574:P116S	ENSP00000215574:P116S	P	+	1	0	CDC34	487324	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	5.851000	0.69481	2.424000	0.82194	0.650000	0.86243	CCC		0.642	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		7	4	0	0	0	1	0	7	4				
ANGEL1	23357	broad.mit.edu	37	14	77270233	77270233	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:77270233G>A	ENST00000251089.2	-	6	1515	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.S33F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	468										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGCTGATGGGAGAAGTCTTC	0.512																																						ENST00000251089.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22						c.(1402-1404)tCc>tTc		angel homolog 1 (Drosophila)							113.0	123.0	120.0					14																	77270233		2203	4300	6503	SO:0001583	missense	23357							g.chr14:77270233G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1403C>T	14.37:g.77270233G>A	ENSP00000251089:p.Ser468Phe					ANGEL1_ENST00000557179.1_Missense_Mutation_p.S33F	p.S468F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	6	1515	-			468					B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	ENST00000251089.2	37	c.1403C>T	CCDS9852.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232825	0.79688	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.56776	1.72;0.44	5.75	5.75	0.90469	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.61236	0.2331	M	0.68952	2.095	0.58432	D	0.999994	P	0.38395	0.629	P	0.47251	0.542	T	0.59016	-0.7533	10	0.38643	T	0.18	-5.5197	14.5784	0.68268	0.0:0.1454:0.8546:0.0	.	468	Q9UNK9	ANGE1_HUMAN	F	468;33	ENSP00000251089:S468F;ENSP00000451534:S33F	ENSP00000251089:S468F	S	-	2	0	ANGEL1	76339986	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.167000	0.71902	2.711000	0.92665	0.655000	0.94253	TCC		0.512	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		58	104	0	0	0	1	0	58	104				
GLI2	2736	broad.mit.edu	37	2	121742133	121742133	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:121742133C>T	ENST00000452319.1	+	12	1830	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	GLI2_ENST00000314490.11_Silent_p.G262G|GLI2_ENST00000361492.4_Silent_p.G590G|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGGTCCACGGCCCAGATGCCC	0.602																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1768-1770)ggC>ggT		GLI family zinc finger 2							143.0	133.0	136.0					2																	121742133		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121742133C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1770C>T	2.37:g.121742133C>T						GLI2_ENST00000314490.11_Silent_p.G262G|GLI2_ENST00000361492.4_Silent_p.G590G|GLI2_ENST00000435313.2_3'UTR	p.G590G			P10070	GLI2_HUMAN			12	1830	+	Renal(3;0.0496)	Prostate(154;0.0623)	590						Silent	SNP	ENST00000452319.1	37	c.1770C>T	CCDS33283.1																																																																																				0.602	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		69	76	0	0	0	1	0	69	76				
PRRG3	79057	broad.mit.edu	37	X	150869341	150869341	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150869341C>T	ENST00000370353.3	+	4	922	c.532C>T	c.(532-534)Cct>Tct	p.P178S	PRRG3_ENST00000538575.1_Missense_Mutation_p.P178S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	178						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTACCTCCCTGAGCTCTC	0.677																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(532-534)Cct>Tct		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							50.0	38.0	42.0					X																	150869341		2202	4300	6502	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869341C>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.532C>T	X.37:g.150869341C>T	ENSP00000359378:p.Pro178Ser					PRRG3_ENST00000538575.1_Missense_Mutation_p.P178S	p.P178S			Q9BZD7	TMG3_HUMAN			4	922	+	Acute lymphoblastic leukemia(192;6.56e-05)		178					A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.532C>T	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722387	0.30503	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98345	-4.88;-4.88	4.31	4.31	0.51392	.	0.076011	0.49916	D	0.000130	D	0.97417	0.9155	L	0.38175	1.15	0.38234	D	0.941119	D	0.64830	0.994	P	0.59115	0.852	D	0.97448	1.0026	9	.	.	.	-17.1741	13.4895	0.61386	0.0:1.0:0.0:0.0	.	178	Q9BZD7	TMG3_HUMAN	S	178	ENSP00000440217:P178S;ENSP00000359378:P178S	.	P	+	1	0	PRRG3	150619997	0.992000	0.36948	0.999000	0.59377	0.886000	0.51366	5.550000	0.67268	2.138000	0.66242	0.523000	0.50628	CCT		0.677	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		20	46	0	0	0	1	0	20	46				
TRPM3	80036	broad.mit.edu	37	9	73235150	73235150	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:73235150G>A	ENST00000377111.2	-	15	2178	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	TRPM3_ENST00000377110.3_Silent_p.L645L|TRPM3_ENST00000360823.2_Silent_p.L507L|TRPM3_ENST00000396292.4_Silent_p.L517L|TRPM3_ENST00000377106.1_Silent_p.L517L|TRPM3_ENST00000358082.3_Silent_p.L507L|TRPM3_ENST00000396280.5_Silent_p.L494L|TRPM3_ENST00000357533.2_Silent_p.L649L|TRPM3_ENST00000396285.1_Silent_p.L492L|TRPM3_ENST00000377105.1_Silent_p.L504L|TRPM3_ENST00000423814.3_Silent_p.L672L|TRPM3_ENST00000408909.2_Silent_p.L504L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	670					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCCGCTTCATGAGAACAGCCC	0.552																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1933-1935)ctC>ctT		transient receptor potential cation channel, subfamily M, member 3							164.0	137.0	146.0					9																	73235150		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73235150G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1935C>T	9.37:g.73235150G>A						TRPM3_ENST00000360823.2_Silent_p.L507L|TRPM3_ENST00000358082.3_Silent_p.L507L|TRPM3_ENST00000377111.2_Silent_p.L645L|TRPM3_ENST00000377105.1_Silent_p.L504L|TRPM3_ENST00000396292.4_Silent_p.L517L|TRPM3_ENST00000408909.2_Silent_p.L504L|TRPM3_ENST00000423814.3_Silent_p.L672L|TRPM3_ENST00000396280.5_Silent_p.L494L|TRPM3_ENST00000357533.2_Silent_p.L649L|TRPM3_ENST00000377106.1_Silent_p.L517L|TRPM3_ENST00000396285.1_Silent_p.L492L	p.L645L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			15	2178	-			670					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.1935C>T		.	.	.	.	.	.	.	.	.	.	G	9.227	1.034846	0.19590	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.07	3.24	0.37175	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34477	-0.9827	4	.	.	.	-14.4354	2.2662	0.04079	0.1044:0.4349:0.2086:0.252	.	.	.	.	Y	494	.	.	H	-	1	0	TRPM3	72424970	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.815000	0.27253	0.899000	0.36444	-0.188000	0.12872	CAT		0.552	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		59	17	0	0	0	1	0	59	17				
MUC4	4585	broad.mit.edu	37	3	195496024	195496024	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:195496024C>T	ENST00000346145.4	-	6	730		c.e6-1		MUC4_ENST00000475231.1_Splice_Site|MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000463781.3_Splice_Site	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGTTGCTCTGGGGGTGGG	0.632																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e7-1		mucin 4, cell surface associated							74.0	58.0	63.0					3																	195496024		2203	4300	6503	SO:0001630	splice_region_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195496024C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.691-1G>A	3.37:g.195496024C>T						MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site		NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	7	13858	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)						O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Splice_Site	SNP	ENST00000346145.4	37		CCDS3310.1	.	.	.	.	.	.	.	.	.	.	c	15.70	2.911101	0.52439	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1587	0.89702	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC4	196981658	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	5.082000	0.64450	2.546000	0.85860	0.441000	0.28932	.		0.632	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406	Intron	10	14	0	0	0	1	0	10	14				
ZNF208	7757	broad.mit.edu	37	19	22154397	22154397	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:22154397C>T	ENST00000397126.4	-	4	3587	c.3439G>A	c.(3439-3441)Ggc>Agc	p.G1147S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGGCTTTGCCACATTCTTCA	0.363																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3439-3441)Ggc>Agc		zinc finger protein 208							34.0	36.0	35.0					19																	22154397		2017	4139	6156	SO:0001583	missense	7757							g.chr19:22154397C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3439G>A	19.37:g.22154397C>T	ENSP00000380315:p.Gly1147Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G1147S	NM_007153.3	NP_009084.2					4	3587	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3439G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347068	0.61183	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07216	3.21	2.91	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19525	0.0469	.	.	.	0.21841	N	0.999514	D	0.67145	0.996	P	0.62298	0.9	T	0.04664	-1.0935	8	0.51188	T	0.08	.	9.9748	0.41777	0.0:0.7902:0.2098:0.0	.	1019	O43345	ZN208_HUMAN	S	1147;1019	ENSP00000380315:G1147S	ENSP00000380315:G1147S	G	-	1	0	ZNF208	21946237	0.748000	0.28294	0.005000	0.12908	0.087000	0.18053	1.767000	0.38501	1.223000	0.43536	0.297000	0.19635	GGC		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		11	17	0	0	0	1	0	11	17				
CUX2	23316	broad.mit.edu	37	12	111746270	111746270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:111746270G>T	ENST00000261726.6	+	14	1352	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	400					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TATTGCAAAGGAGGCCTTCTT	0.627																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(1198-1200)Gag>Tag		cut-like homeobox 2							45.0	45.0	45.0					12																	111746270		1969	4160	6129	SO:0001587	stop_gained	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111746270G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1198G>T	12.37:g.111746270G>T	ENSP00000261726:p.Glu400*						p.E400*	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			14	1352	+			400					A7E2Y4	Nonsense_Mutation	SNP	ENST00000261726.6	37	c.1198G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	38	7.019948	0.98006	.	.	ENSG00000111249	ENST00000261726	.	.	.	5.04	5.04	0.67666	.	0.305040	0.35207	N	0.003370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-21.1647	16.9568	0.86261	0.0:0.0:1.0:0.0	.	.	.	.	X	400	.	ENSP00000261726:E400X	E	+	1	0	CUX2	110230653	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.943000	0.87716	2.344000	0.79699	0.313000	0.20887	GAG		0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		14	30	1	0	2.32078e-09	1	2.3404e-09	14	30				
PIK3CG	5294	broad.mit.edu	37	7	106526692	106526692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:106526692G>A	ENST00000359195.3	+	10	3295	c.2985G>A	c.(2983-2985)atG>atA	p.M995I	PIK3CG_ENST00000496166.1_Missense_Mutation_p.M995I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M995I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	995	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTTGTGATGGGAACTTCTG	0.453																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2983-2985)atG>atA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							78.0	76.0	77.0					7																	106526692		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106526692G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2985G>A	7.37:g.106526692G>A	ENSP00000352121:p.Met995Ile					PIK3CG_ENST00000496166.1_Missense_Mutation_p.M995I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M995I	p.M995I	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			10	3295	+			995			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2985G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924860	0.73213	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	D;D;D	0.82619	-1.63;-1.63;-1.63	5.64	5.64	0.86602	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.81744	0.4887	L	0.49513	1.565	0.80722	D	1	B	0.27140	0.169	B	0.38194	0.267	T	0.74203	-0.3741	10	0.02654	T	1	-49.3565	20.0691	0.97712	0.0:0.0:1.0:0.0	.	995	P48736	PK3CG_HUMAN	I	995	ENSP00000392258:M995I;ENSP00000419260:M995I;ENSP00000352121:M995I	ENSP00000352121:M995I	M	+	3	0	PIK3CG	106313928	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.849000	0.86908	2.820000	0.97059	0.650000	0.86243	ATG		0.453	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			15	49	0	0	0	1	0	15	49				
WNK2	65268	broad.mit.edu	37	9	96019254	96019254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:96019254C>G	ENST00000297954.4	+	10	2215	c.2215C>G	c.(2215-2217)Ccc>Gcc	p.P739A	WNK2_ENST00000427277.2_Missense_Mutation_p.P351A|WNK2_ENST00000395477.2_Missense_Mutation_p.P739A|WNK2_ENST00000395475.2_Missense_Mutation_p.P673A|WNK2_ENST00000349097.3_Missense_Mutation_p.P351A|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	739					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGCCGACACCCCTGCCGCA	0.687																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2215-2217)Ccc>Gcc		WNK lysine deficient protein kinase 2							11.0	13.0	12.0					9																	96019254		2174	4266	6440	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96019254C>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2215C>G	9.37:g.96019254C>G	ENSP00000297954:p.Pro739Ala					WNK2_ENST00000395475.2_Missense_Mutation_p.P673A|WNK2_ENST00000427277.2_Missense_Mutation_p.P351A|WNK2_ENST00000395477.2_Missense_Mutation_p.P739A|WNK2_ENST00000349097.3_Missense_Mutation_p.P351A|WNK2_ENST00000356055.3_5'UTR	p.P739A			Q9Y3S1	WNK2_HUMAN			10	2215	+			739					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.2215C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.574|8.574|8.574	0.880787|0.880787|0.880787	0.17467|0.17467|0.17467	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000432730|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277|ENST00000411624	.|T;T;T;T;T;T|T	.|0.67865|0.59083	.|1.85;-0.29;-0.27;1.85;0.32;0.31|0.29	4.83|4.83|4.83	1.2|1.2|1.2	0.21068|0.21068|0.21068	.|.|.	.|0.630987|.	.|0.15911|.	.|N|.	.|0.238591|.	T|T|T	0.33030|0.33030|0.33030	0.0849|0.0849|0.0849	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.09310|0.09310|0.09310	N|N|N	0.99999|0.99999|0.99999	.|B;B;B;B;B|.	.|0.06786|.	.|0.001;0.0;0.0;0.001;0.0|.	.|B;B;B;B;B|.	.|0.08055|.	.|0.003;0.001;0.002;0.003;0.002|.	T|T|T	0.18335|0.18335|0.18335	-1.0340|-1.0340|-1.0340	5|10|7	.|0.16420|0.09338	.|T|T	.|0.52|0.73	.|.|.	1.376|1.376|1.376	0.02220|0.02220|0.02220	0.1931:0.2965:0.3274:0.183|0.1931:0.2965:0.3274:0.183|0.1931:0.2965:0.3274:0.183	.|.|.	.|739;739;342;739;739|.	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1|.	.|.;.;.;.;WNK2_HUMAN|.	Q|A|S	734|687;739;739;673;351;351|342	.|ENSP00000412465:P687A;ENSP00000297954:P739A;ENSP00000378860:P739A;ENSP00000378858:P673A;ENSP00000297876:P351A;ENSP00000411181:P351A|ENSP00000414622:T342S	.|ENSP00000297954:P739A|ENSP00000414622:T342S	H|P|T	+|+|+	3|1|2	2|0|0	WNK2|WNK2|WNK2	95059075|95059075|95059075	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.024000|0.024000|0.024000	0.17045|0.17045|0.17045	0.859000|0.859000|0.859000	0.49053|0.49053|0.49053	-0.222000|-0.222000|-0.222000	0.09190|0.09190|0.09190	-0.061000|-0.061000|-0.061000	0.13110|0.13110|0.13110	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	CAC|CCC|ACC		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	2	0	0	0	1	0	6	2				
GALR2	8811	broad.mit.edu	37	17	74073173	74073173	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:74073173C>T	ENST00000329003.3	+	2	915	c.825C>T	c.(823-825)atC>atT	p.I275I	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	275					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CGCTTCGCATCCTCTCGCACC	0.642																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(823-825)atC>atT		galanin receptor 2							43.0	38.0	40.0					17																	74073173		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073173C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.825C>T	17.37:g.74073173C>T							p.I275I	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	915	+			275					A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.825C>T	CCDS11739.1																																																																																				0.642	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			10	13	0	0	0	1	0	10	13				
RBP3	5949	broad.mit.edu	37	10	48389383	48389383	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:48389383G>A	ENST00000224600.4	-	1	1608	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	499	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCGGCCTCAGGGCCCTGGAAG	0.652																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1495-1497)Cct>Tct		retinol binding protein 3, interstitial	Vitamin A(DB00162)						32.0	38.0	36.0					10																	48389383		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389383G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1495C>T	10.37:g.48389383G>A	ENSP00000224600:p.Pro499Ser						p.P499S	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1608	-			499			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1495C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632716	0.14322	.	.	ENSG00000107618	ENST00000224600	T	0.61980	0.06	5.29	4.36	0.52297	Interphotoreceptor retinol-binding (2);	0.061197	0.64402	D	0.000004	T	0.55513	0.1925	L	0.39326	1.205	0.43953	D	0.996625	B	0.29590	0.25	B	0.30495	0.116	T	0.58031	-0.7708	10	0.72032	D	0.01	-18.2053	14.8026	0.69926	0.0:0.145:0.855:0.0	.	499	P10745	RET3_HUMAN	S	499	ENSP00000224600:P499S	ENSP00000224600:P499S	P	-	1	0	RBP3	48009389	0.998000	0.40836	0.117000	0.21633	0.201000	0.24016	2.886000	0.48578	1.198000	0.43158	0.561000	0.74099	CCT		0.652	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		14	29	0	0	0	1	0	14	29				
ADCY2	108	broad.mit.edu	37	5	7626395	7626395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:7626395C>T	ENST00000338316.4	+	4	775	c.686C>T	c.(685-687)tCg>tTg	p.S229L		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	229					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCATCAAGTCGCGGATCAAG	0.393																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(685-687)tCg>tTg		adenylate cyclase 2 (brain)							124.0	118.0	120.0					5																	7626395		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7626395C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.686C>T	5.37:g.7626395C>T	ENSP00000342952:p.Ser229Leu						p.S229L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			4	775	+			229					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.686C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403542	0.42613	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.77229	-1.08	5.09	5.09	0.68999	.	0.127395	0.56097	D	0.000032	T	0.74550	0.3731	L	0.61387	1.9	0.80722	D	1	B	0.17667	0.023	B	0.15870	0.014	T	0.69423	-0.5149	10	0.22706	T	0.39	.	16.0304	0.80574	0.0:1.0:0.0:0.0	.	229	Q08462	ADCY2_HUMAN	L	229;80;18	ENSP00000342952:S229L	ENSP00000342952:S229L	S	+	2	0	ADCY2	7679395	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.137000	0.77295	2.520000	0.84964	0.655000	0.94253	TCG		0.393	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		27	56	0	0	0	1	0	27	56				
CRB2	286204	broad.mit.edu	37	9	126137568	126137568	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:126137568G>A	ENST00000373631.3	+	12	3580	c.3579G>A	c.(3577-3579)ggG>ggA	p.G1193G	CRB2_ENST00000373629.2_Silent_p.G861G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	1193	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CAGCTGGAGGGGTGTCTGAAT	0.637																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(3577-3579)ggG>ggA		crumbs homolog 2 (Drosophila)							62.0	65.0	64.0					9																	126137568		2202	4300	6502	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126137568G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.3579G>A	9.37:g.126137568G>A						CRB2_ENST00000373629.2_Silent_p.G861G	p.G1193G	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			12	3580	+			1193			EGF-like 15.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.3579G>A	CCDS6852.2																																																																																				0.637	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		23	11	0	0	0	1	0	23	11				
DNAH2	146754	broad.mit.edu	37	17	7721167	7721167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7721167G>A	ENST00000572933.1	+	67	11689	c.10229G>A	c.(10228-10230)gGa>gAa	p.G3410E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3410E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3410	AAA 5. {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)				AACATGGAAGGAGGCCAGGTG	0.622																																						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.(10228-10230)gGa>gAa		dynein, axonemal, heavy chain 2							54.0	51.0	52.0					17																	7721167		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7721167G>A	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.10229G>A	17.37:g.7721167G>A	ENSP00000458355:p.Gly3410Glu					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3410E	p.G3410E			Q9P225	DYH2_HUMAN			67	11689	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3410			AAA 5 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10229G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	7.625	0.677707	0.14841	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21543	2.0	4.95	4.95	0.65309	.	0.275088	0.35525	N	0.003143	T	0.12603	0.0306	N	0.26162	0.8	0.80722	D	1	B;B	0.24258	0.082;0.1	B;B	0.29077	0.059;0.098	T	0.12016	-1.0564	10	0.09084	T	0.74	.	6.9893	0.24745	0.0911:0.1766:0.7322:0.0	.	3371;3410	Q9P225-2;Q9P225	.;DYH2_HUMAN	E	3371;3410	ENSP00000373825:G3410E	ENSP00000353818:G3371E	G	+	2	0	DNAH2	7661892	0.620000	0.27068	0.978000	0.43139	0.550000	0.35303	1.921000	0.40035	2.564000	0.86499	0.563000	0.77884	GGA		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		19	44	0	0	0	1	0	19	44				
ZNF160	90338	broad.mit.edu	37	19	53572905	53572905	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53572905A>G	ENST00000429604.1	-	7	1297	c.882T>C	c.(880-882)ttT>ttC	p.F294F	ZNF160_ENST00000599056.1_Silent_p.F294F|ZNF160_ENST00000601421.1_Silent_p.F258F|ZNF160_ENST00000418871.1_Silent_p.F294F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	294					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACGAACAGTAAAGGTTTTGC	0.418																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(772-774)ttT>ttC		zinc finger protein 160							149.0	141.0	144.0					19																	53572905		2203	4300	6503	SO:0001819	synonymous_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572905A>G	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.882T>C	19.37:g.53572905A>G						ZNF160_ENST00000418871.1_Silent_p.F294F|ZNF160_ENST00000429604.1_Silent_p.F294F|ZNF160_ENST00000599056.1_Silent_p.F294F	p.F258F			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1650	-			294					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	c.774T>C	CCDS12859.1																																																																																				0.418	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		43	69	0	0	0	1	0	43	69				
NCKAP1L	3071	broad.mit.edu	37	12	54917272	54917272	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:54917272G>A	ENST00000293373.6	+	19	2052	c.1973G>A	c.(1972-1974)aGg>aAg	p.R658K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R608K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	658					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCCCGAGAGGGACAAGCCA	0.542																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1972-1974)aGg>aAg		NCK-associated protein 1-like							86.0	89.0	88.0					12																	54917272		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917272G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1973G>A	12.37:g.54917272G>A	ENSP00000293373:p.Arg658Lys					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R608K	p.R658K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			19	2052	+			658					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1973G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665773	0.47677	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30981	1.51;1.51	4.99	4.99	0.66335	.	0.048556	0.85682	D	0.000000	T	0.22859	0.0552	N	0.24115	0.695	0.40040	D	0.975642	B	0.21071	0.051	B	0.17979	0.02	T	0.04440	-1.0951	10	0.29301	T	0.29	-19.0267	16.1355	0.81481	0.0:0.0:1.0:0.0	.	658	P55160	NCKPL_HUMAN	K	658;608	ENSP00000293373:R658K;ENSP00000445596:R608K	ENSP00000293373:R658K	R	+	2	0	NCKAP1L	53203539	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.575000	0.36493	2.474000	0.83562	0.655000	0.94253	AGG		0.542	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		44	57	0	0	0	1	0	44	57				
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	G	A	rs267601963		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:62212800G>A	ENST00000519846.1	+	3	886	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_ENST00000325897.4_Silent_p.R138R|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	138	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTACGGCAGGAAGATTCTTT	0.448																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(412-414)agG>agA		clavesin 1							37.0	39.0	38.0					8																	62212800		2202	4300	6502	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212800G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.414G>A	8.37:g.62212800G>A						CLVS1_ENST00000325897.4_Silent_p.R138R|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron	p.R138R			Q8IUQ0	CLVS1_HUMAN			3	886	+			138			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.414G>A	CCDS6176.1																																																																																				0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		17	20	0	0	0	1	0	17	20				
PTH2R	5746	broad.mit.edu	37	2	209358364	209358364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:209358364G>A	ENST00000272847.2	+	13	1846	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	545					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	ATGCCAAGGAGAAACTGAGGA	0.498																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1633-1635)Gaa>Aaa		parathyroid hormone 2 receptor							82.0	82.0	82.0					2																	209358364		2202	4299	6501	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358364G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1633G>A	2.37:g.209358364G>A	ENSP00000272847:p.Glu545Lys					AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.E545K	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1846	+			545					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1633G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522006	0.44866	.	.	ENSG00000144407	ENST00000272847	T	0.52983	0.64	5.71	4.83	0.62350	.	0.000000	0.37095	U	0.002241	T	0.43255	0.1239	L	0.60455	1.87	0.09310	N	1	B;B	0.32939	0.105;0.391	B;B	0.31245	0.058;0.126	T	0.34329	-0.9833	9	.	.	.	.	12.342	0.55099	0.0816:0.0:0.9184:0.0	.	434;545	B4DFN8;P49190	.;PTH2R_HUMAN	K	545	ENSP00000272847:E545K	.	E	+	1	0	PTH2R	209066609	1.000000	0.71417	0.055000	0.19348	0.032000	0.12392	2.970000	0.49240	1.427000	0.47276	0.591000	0.81541	GAA		0.498	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		31	12	0	0	0	1	0	31	12				
RP9	6100	broad.mit.edu	37	7	33134978	33134978	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:33134978G>A	ENST00000297157.3	-	6	551	c.534C>T	c.(532-534)tcC>tcT	p.S178S		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	178	Poly-Ser.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TACCTTCAGAGGAACTGGAGC	0.348																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(532-534)tcC>tcT		retinitis pigmentosa 9 (autosomal dominant)							44.0	44.0	44.0					7																	33134978		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33134978G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.534C>T	7.37:g.33134978G>A							p.S178S	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		6	551	-			178			Poly-Ser.			Silent	SNP	ENST00000297157.3	37	c.534C>T	CCDS5440.1																																																																																				0.348	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		24	41	0	0	0	1	0	24	41				
ZNF286B	729288	broad.mit.edu	37	17	18565299	18565299	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18565299C>T	ENST00000545289.1	-	5	1770	c.1520G>A	c.(1519-1521)aGt>aAt	p.S507N	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	507					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)|lung(1)	2						GAGAGATGAACTGCACTTAAA	0.358																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1519-1521)aGt>aAt		zinc finger protein 286B							44.0	44.0	44.0					17																	18565299		692	1590	2282	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565299C>T		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1520G>A	17.37:g.18565299C>T	ENSP00000461413:p.Ser507Asn						p.S507N	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1770	-			507						Missense_Mutation	SNP	ENST00000545289.1	37	c.1520G>A	CCDS58523.1																																																																																				0.358	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		27	51	0	0	0	1	0	27	51				
PID1	55022	broad.mit.edu	37	2	229890387	229890387	+	Silent	SNP	G	G	A	rs574687706		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:229890387G>A	ENST00000354069.6	-	3	744	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PID1_ENST00000392054.3_Silent_p.S236S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.S205S|PID1_ENST00000409462.1_Silent_p.S156S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	238	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AAACCTCTTCGGAGGAGCTGT	0.532																																						ENST00000392054.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(706-708)tcC>tcT		phosphotyrosine interaction domain containing 1							91.0	91.0	91.0					2																	229890387		2203	4300	6503	SO:0001819	synonymous_variant	55022					cytoplasm		g.chr2:229890387G>A	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.714C>T	2.37:g.229890387G>A						PID1_ENST00000354069.6_Silent_p.S238S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.S205S|PID1_ENST00000409462.1_Silent_p.S156S	p.S236S	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	1047	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	238			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37	c.708C>T																																																																																					0.532	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		38	23	0	0	0	1	0	38	23				
NFKB2	4791	broad.mit.edu	37	10	104158035	104158035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104158035C>T	ENST00000369966.3	+	10	1083	c.833C>T	c.(832-834)cCc>cTc	p.P278L	NFKB2_ENST00000189444.6_Missense_Mutation_p.P278L|NFKB2_ENST00000428099.1_Missense_Mutation_p.P278L|NFKB2_ENST00000336486.5_3'UTR	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	278	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GACTTCTCTCCCACAGATGTG	0.562			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(832-834)cCc>cTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							114.0	115.0	115.0					10																	104158035		1875	4096	5971	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104158035C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.833C>T	10.37:g.104158035C>T	ENSP00000358983:p.Pro278Leu					NFKB2_ENST00000428099.1_Missense_Mutation_p.P278L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P278L|NFKB2_ENST00000336486.5_3'UTR	p.P278L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	10	1083	+		Colorectal(252;0.00957)	278			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.833C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292096	0.80914	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	D;D;D	0.89681	-2.55;-2.55;-2.55	5.15	5.15	0.70609	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.95555	0.8624	10	0.87932	D	0	.	18.6063	0.91266	0.0:1.0:0.0:0.0	.	278;278;278	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	L	278	ENSP00000410256:P278L;ENSP00000358983:P278L;ENSP00000189444:P278L	ENSP00000189444:P278L	P	+	2	0	NFKB2	104148025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.408000	0.80041	2.401000	0.81631	0.561000	0.74099	CCC		0.562	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			39	73	0	0	0	1	0	39	73				
ACCSL	390110	broad.mit.edu	37	11	44074302	44074302	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:44074302A>G	ENST00000378832.1	+	6	919	c.863A>G	c.(862-864)gAg>gGg	p.E288G		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	288					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTCCACCTGGAGAGTGAGGTC	0.547																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(862-864)gAg>gGg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like							192.0	187.0	189.0					11																	44074302		1945	4134	6079	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44074302A>G		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.863A>G	11.37:g.44074302A>G	ENSP00000368109:p.Glu288Gly						p.E288G	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			6	919	+			288						Missense_Mutation	SNP	ENST00000378832.1	37	c.863A>G	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884742	0.33255	.	.	ENSG00000205126	ENST00000378832	T	0.22539	1.95	5.39	5.39	0.77823	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.205916	0.49916	D	0.000130	T	0.20007	0.0481	L	0.39566	1.225	0.39798	D	0.972525	B	0.10296	0.003	B	0.15052	0.012	T	0.03157	-1.1066	10	0.62326	D	0.03	-4.1229	13.408	0.60924	1.0:0.0:0.0:0.0	.	288	Q4AC99	1A1L2_HUMAN	G	288	ENSP00000368109:E288G	ENSP00000368109:E288G	E	+	2	0	ACCSL	44030878	1.000000	0.71417	0.983000	0.44433	0.116000	0.19942	4.374000	0.59543	2.264000	0.75181	0.533000	0.62120	GAG		0.547	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		68	99	0	0	0	1	0	68	99				
OVOL1	5017	broad.mit.edu	37	11	65562633	65562633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:65562633C>T	ENST00000335987.3	+	4	977	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	OVOL1_ENST00000532448.1_Missense_Mutation_p.R147W|RP11-770G2.5_ENST00000531155.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	209					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CAAGGAGCGGCGGGCCAAGCT	0.617																																						ENST00000335987.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(625-627)Cgg>Tgg		ovo-like zinc finger 1							95.0	76.0	82.0					11																	65562633		2201	4297	6498	SO:0001583	missense	5017				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:65562633C>T	BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"""Zinc fingers, C2H2-type"""	8525	protein-coding gene	gene with protein product		602313	"""ovo (Drosophila) homolog-like 1"", ""ovo-like 1(Drosophila)"""			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.625C>T	11.37:g.65562633C>T	ENSP00000337862:p.Arg209Trp					OVOL1_ENST00000532448.1_Missense_Mutation_p.R147W	p.R209W	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN		READ - Rectum adenocarcinoma(159;0.17)	4	977	+			209					Q6PCB1	Missense_Mutation	SNP	ENST00000335987.3	37	c.625C>T	CCDS8112.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523161	0.85600	.	.	ENSG00000172818	ENST00000335987;ENST00000532448	T;T	0.07908	3.15;3.15	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000010	T	0.28067	0.0692	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00978	-1.1493	10	0.72032	D	0.01	-39.8857	11.198	0.48724	0.1834:0.8166:0.0:0.0	.	209	O14753	OVOL1_HUMAN	W	209;147	ENSP00000337862:R209W;ENSP00000434220:R147W	ENSP00000337862:R209W	R	+	1	2	OVOL1	65319209	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.787000	0.55439	2.393000	0.81446	0.561000	0.74099	CGG		0.617	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390690.1	NM_004561		15	19	0	0	0	1	0	15	19				
SCN1A	6323	broad.mit.edu	37	2	166872124	166872124	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:166872124G>A	ENST00000303395.4	-	17	3542	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1170F|SCN1A_ENST00000409050.1_Silent_p.F1153F|SCN1A_ENST00000423058.2_Silent_p.F1181F|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1181					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCTTCAGTGAAACAAGCTT	0.413																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(3541-3543)ttC>ttT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						125.0	118.0	121.0					2																	166872124		2203	4299	6502	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166872124G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3543C>T	2.37:g.166872124G>A						SCN1A_ENST00000303395.4_Silent_p.F1181F|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1170F|SCN1A_ENST00000409050.1_Silent_p.F1153F	p.F1181F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			17	3560	-			1181					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3543C>T	CCDS54413.1																																																																																				0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		28	73	0	0	0	1	0	28	73				
TRIM39	56658	broad.mit.edu	37	6	30309967	30309967	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30309967C>T	ENST00000396547.1	+	8	1648	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	TRIM39_ENST00000540416.1_Silent_p.Y466Y|TRIM39_ENST00000396551.3_Silent_p.Y466Y|TRIM39_ENST00000376656.4_Silent_p.Y496Y|RPP21_ENST00000433076.2_5'Flank|RPP21_ENST00000428040.2_5'Flank|RPP21_ENST00000436442.2_5'Flank|TRIM39_ENST00000376659.5_Silent_p.Y466Y|TRIM39_ENST00000396548.1_Silent_p.Y466Y|RPP21_ENST00000442966.2_5'Flank|TRIM39-RPP21_ENST00000513556.1_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	496	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCCTCTTCTACCCAGGCATCC	0.522																																						ENST00000376659.5																			0				ovary(3)	3						c.(1396-1398)taC>taT		tripartite motif containing 39							88.0	84.0	86.0					6																	30309967		1511	2708	4219	SO:0001819	synonymous_variant	56658							g.chr6:30309967C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1488C>T	6.37:g.30309967C>T						TRIM39_ENST00000396551.3_Silent_p.Y466Y|TRIM39_ENST00000396548.1_Silent_p.Y466Y|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Silent_p.Y466Y|TRIM39_ENST00000376656.4_Silent_p.Y496Y|TRIM39_ENST00000396547.1_Silent_p.Y496Y	p.Y466Y	NM_172016.2	NP_742013.1					8	1996	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.1398C>T	CCDS34377.1																																																																																				0.522	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		31	13	0	0	0	1	0	31	13				
OR2T8	343172	broad.mit.edu	37	1	248084497	248084497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:248084497C>G	ENST00000319968.4	+	1	178	c.178C>G	c.(178-180)Ctc>Gtc	p.L60V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGTACTTCCTCCTGAGCCA	0.542																																						ENST00000319968.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(178-180)Ctc>Gtc		olfactory receptor, family 2, subfamily T, member 8							76.0	70.0	72.0					1																	248084497		2203	4300	6503	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084497C>G		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.178C>G	1.37:g.248084497C>G	ENSP00000326225:p.Leu60Val						p.L60V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	178	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	60						Missense_Mutation	SNP	ENST00000319968.4	37	c.178C>G	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	c	8.344	0.829466	0.16749	.	.	ENSG00000177462	ENST00000319968	T	0.03124	4.04	3.81	0.581	0.17407	GPCR, rhodopsin-like superfamily (1);	0.311215	0.17524	U	0.171116	T	0.16981	0.0408	M	0.91510	3.215	0.09310	N	1	D	0.71674	0.998	D	0.65010	0.931	T	0.02484	-1.1152	10	0.87932	D	0	.	6.9324	0.24449	0.0:0.572:0.0:0.428	.	60	A6NH00	OR2T8_HUMAN	V	60	ENSP00000326225:L60V	ENSP00000326225:L60V	L	+	1	0	OR2T8	246151120	0.029000	0.19370	0.159000	0.22649	0.100000	0.18952	0.304000	0.19228	0.295000	0.22570	0.603000	0.83216	CTC		0.542	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		6	99	0	0	0	1	0	6	99				
EDC4	23644	broad.mit.edu	37	16	67911499	67911499	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67911499G>A	ENST00000358933.5	+	6	968	c.729G>A	c.(727-729)gaG>gaA	p.E243E	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	243					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCATCCCTGAGGAGAGCGAAG	0.597																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(727-729)gaG>gaA		enhancer of mRNA decapping 4							78.0	82.0	81.0					16																	67911499		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67911499G>A	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.729G>A	16.37:g.67911499G>A						EDC4_ENST00000574770.1_3'UTR	p.E243E	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	968	+		Ovarian(137;0.0563)	243					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.729G>A	CCDS10849.1																																																																																				0.597	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		23	49	0	0	0	1	0	23	49				
PADI3	51702	broad.mit.edu	37	1	17597416	17597416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:17597416C>T	ENST00000375460.3	+	8	914	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	292					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGTGTTCCGAGTGGCACC	0.622																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(874-876)Cga>Tga		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						83.0	74.0	77.0					1																	17597416		2203	4300	6503	SO:0001587	stop_gained	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17597416C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.874C>T	1.37:g.17597416C>T	ENSP00000364609:p.Arg292*						p.R292*	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	8	914	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	292					Q58EY7|Q70SX5	Nonsense_Mutation	SNP	ENST00000375460.3	37	c.874C>T	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798216	0.96952	.	.	ENSG00000142619	ENST00000375460	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.135	13.0962	0.59192	0.1604:0.8396:0.0:0.0	.	.	.	.	X	292	.	ENSP00000364609:R292X	R	+	1	2	PADI3	17470003	1.000000	0.71417	0.995000	0.50966	0.725000	0.41563	4.510000	0.60455	2.613000	0.88420	0.561000	0.74099	CGA		0.622	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			13	33	0	0	0	1	0	13	33				
ANXA3	306	broad.mit.edu	37	4	79522687	79522687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79522687G>A	ENST00000264908.6	+	11	1133	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	ANXA3_ENST00000512884.1_Missense_Mutation_p.A213T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A213T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	252					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAACACGCCGGCCTTTTTAGC	0.383																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(754-756)Gcc>Acc		annexin A3							134.0	124.0	128.0					4																	79522687		2203	4300	6503	SO:0001583	missense	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79522687G>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.754G>A	4.37:g.79522687G>A	ENSP00000264908:p.Ala252Thr					ANXA3_ENST00000512884.1_Missense_Mutation_p.A213T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A213T	p.A252T	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			11	1133	+			252					B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	c.754G>A	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520267	0.85495	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570	T;T;T	0.12147	2.71;2.71;2.71	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.74546	2.27	0.80722	D	1	D	0.65815	0.995	P	0.57283	0.817	T	0.04454	-1.0950	10	0.62326	D	0.03	.	17.7034	0.88302	0.0:0.0:1.0:0.0	.	252	P12429	ANXA3_HUMAN	T	252;213;213	ENSP00000264908:A252T;ENSP00000423068:A213T;ENSP00000421015:A213T	ENSP00000264908:A252T	A	+	1	0	ANXA3	79741711	1.000000	0.71417	0.998000	0.56505	0.421000	0.31385	7.992000	0.88273	2.708000	0.92522	0.585000	0.79938	GCC		0.383	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		27	55	0	0	0	1	0	27	55				
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:80328892G>A	ENST00000358842.3	-	1	480	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(463-465)Cgt>Tgt		glycerol kinase 2							135.0	131.0	132.0					4																	80328892		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328892G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.463C>T	4.37:g.80328892G>A	ENSP00000351706:p.Arg155Cys						p.R155C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	480	-			155					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.463C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052016	0.55218	.	.	ENSG00000196475	ENST00000358842	T	0.59906	0.23	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, conserved site (1);Carbohydrate kinase, FGGY, N-terminal (1);	0.055575	0.64402	D	0.000001	T	0.76033	0.3931	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.79127	-0.1931	10	0.87932	D	0	-14.6367	8.8926	0.35444	0.0:0.0:0.7775:0.2225	.	155	Q14410	GLPK2_HUMAN	C	155	ENSP00000351706:R155C	ENSP00000351706:R155C	R	-	1	0	GK2	80547916	1.000000	0.71417	0.989000	0.46669	0.784000	0.44337	7.170000	0.77587	2.418000	0.82041	0.585000	0.79938	CGT		0.408	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		25	87	0	0	0	1	0	25	87				
OBSCN	84033	broad.mit.edu	37	1	228548409	228548409	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228548409C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Missense_Mutation_p.L6606F|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3725F	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)				GACGGTCACCCTTCACATCTG	0.637																																						ENST00000284548.11																			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.(19816-19818)Ctt>Ttt		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							25.0	27.0	26.0					1																	228548409		2148	4254	6402	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.chr1:228548409C>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.18662-1868C>T	1.37:g.228548409C>T						OBSCN_ENST00000366709.4_Missense_Mutation_p.L3725F|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron	p.L6606F			Q5VST9	OBSCN_HUMAN			81	19890	+		Prostate(94;0.0405)	0			Protein kinase 1.		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.19816C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979838	0.74360	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.74315	-0.83;-0.66	5.26	0.854	0.19007	.	.	.	.	.	T	0.80215	0.4582	M	0.61703	1.905	0.36342	D	0.859527	D	0.89917	1.0	D	0.73708	0.981	T	0.79718	-0.1686	9	0.87932	D	0	.	6.3241	0.21234	0.0:0.3918:0.3914:0.2169	.	6606	Q5VST9-3	.	F	6606;3725	ENSP00000284548:L6606F;ENSP00000355670:L3725F	ENSP00000284548:L6606F	L	+	1	0	OBSCN	226615032	0.051000	0.20477	0.273000	0.24645	0.054000	0.15201	0.410000	0.21098	0.186000	0.20125	0.467000	0.42956	CTT		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	5	0	0	0	1	0	14	5				
ILVBL	10994	broad.mit.edu	37	19	15230043	15230043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15230043G>A	ENST00000263383.3	-	9	1124	c.985C>T	c.(985-987)Cac>Tac	p.H329Y	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Y	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	329						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGAGGGGGTGGTTGCGGCCT	0.642																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(985-987)Cac>Tac		ilvB (bacterial acetolactate synthase)-like							62.0	59.0	60.0					19																	15230043		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230043G>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.985C>T	19.37:g.15230043G>A	ENSP00000263383:p.His329Tyr					ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Y	p.H329Y	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			9	1124	-			329					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.985C>T	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305837	0.60305	.	.	ENSG00000105135	ENST00000263383	T	0.54866	0.55	5.31	3.05	0.35203	Thiamine pyrophosphate enzyme, central domain (1);	0.230150	0.49305	D	0.000144	T	0.67477	0.2897	M	0.82193	2.58	0.34757	D	0.732342	P	0.47677	0.899	P	0.56216	0.794	T	0.79371	-0.1831	10	0.72032	D	0.01	-13.1706	11.3731	0.49711	0.0:0.0:0.656:0.344	.	329	A1L0T0	ILVBL_HUMAN	Y	329	ENSP00000263383:H329Y	ENSP00000263383:H329Y	H	-	1	0	ILVBL	15091043	1.000000	0.71417	0.998000	0.56505	0.248000	0.25809	4.003000	0.57061	1.148000	0.42385	0.561000	0.74099	CAC		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		35	67	0	0	0	1	0	35	67				
F8	2157	broad.mit.edu	37	X	154157819	154157819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:154157819G>A	ENST00000360256.4	-	14	4446	c.4246C>T	c.(4246-4248)Cca>Tca	p.P1416S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1416	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTAATAGATGGAAATGATGAT	0.423																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4246-4248)Cca>Tca		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						127.0	120.0	123.0					X																	154157819		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157819G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4246C>T	X.37:g.154157819G>A	ENSP00000353393:p.Pro1416Ser						p.P1416S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4446	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1416			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4246C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	3.613	-0.079212	0.07141	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	5.54	3.77	0.43336	.	0.566701	0.17216	N	0.182507	D	0.96411	0.8829	L	0.41824	1.3	0.09310	N	1	B	0.20887	0.049	B	0.18263	0.021	D	0.91443	0.5175	10	0.27082	T	0.32	-0.0599	6.8718	0.24125	0.2077:0.0:0.7923:0.0	.	1416	P00451	FA8_HUMAN	S	1416	ENSP00000353393:P1416S	ENSP00000353393:P1416S	P	-	1	0	F8	153811013	0.132000	0.22450	0.004000	0.12327	0.077000	0.17291	0.531000	0.23052	1.126000	0.42016	0.597000	0.82753	CCA		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			95	94	0	0	0	1	0	95	94				
ERC1	23085	broad.mit.edu	37	12	1250819	1250819	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:1250819G>A	ENST00000397203.2	+	8	2009	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ERC1_ENST00000589028.1_Missense_Mutation_p.E535K|ERC1_ENST00000355446.5_Missense_Mutation_p.E535K|ERC1_ENST00000546231.2_Missense_Mutation_p.E535K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Missense_Mutation_p.E507K|ERC1_ENST00000360905.4_Missense_Mutation_p.E535K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	535					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGAAGAGAAGGAAACCATGTT	0.373																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1603-1605)Gaa>Aaa		ELKS/RAB6-interacting/CAST family member 1							110.0	93.0	99.0					12																	1250819		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1250819G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1603G>A	12.37:g.1250819G>A	ENSP00000380386:p.Glu535Lys					ERC1_ENST00000546231.2_Missense_Mutation_p.E535K|ERC1_ENST00000355446.5_Missense_Mutation_p.E535K|ERC1_ENST00000360905.4_Missense_Mutation_p.E535K|ERC1_ENST00000589028.1_Missense_Mutation_p.E535K|ERC1_ENST00000543086.3_Missense_Mutation_p.E507K|ERC1_ENST00000536573.2_3'UTR	p.E535K			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		8	2009	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		535					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.1603G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272481	0.95429	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.38;0.8;-1.48;-1.48;0.8	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;0.999;0.998;1.0	D;D;D;D;D	0.91635	0.993;0.987;0.994;0.98;0.999	D	0.85547	0.1219	10	0.27082	T	0.32	-13.342	19.9064	0.97008	0.0:0.0:1.0:0.0	.	283;175;507;507;535	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	K	507;535;507;507;235;507;507;235;535;535;535;507;283;175	ENSP00000340054:E507K;ENSP00000380386:E535K;ENSP00000438546:E507K;ENSP00000442976:E235K;ENSP00000442739:E535K;ENSP00000347621:E535K;ENSP00000354158:E535K;ENSP00000410064:E507K	ENSP00000299183:E235K	E	+	1	0	ERC1	1121080	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	9.869000	0.99810	2.693000	0.91896	0.655000	0.94253	GAA		0.373	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		22	37	0	0	0	1	0	22	37				
IPO13	9670	broad.mit.edu	37	1	44422566	44422566	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44422566C>T	ENST00000372343.3	+	5	1851	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	397					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGTGGATGTGCTTCTGCACAA	0.517																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1189-1191)Ctt>Ttt		importin 13							71.0	68.0	69.0					1																	44422566		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422566C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.1189C>T	1.37:g.44422566C>T	ENSP00000361418:p.Leu397Phe					IPO13_ENST00000492152.1_3'UTR	p.L397F	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			5	1851	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	397					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.1189C>T	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321636	0.81580	.	.	ENSG00000117408	ENST00000372343	T	0.72725	-0.68	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	L	0.58101	1.795	0.80722	D	1	D	0.55800	0.973	P	0.54924	0.764	T	0.78321	-0.2249	10	0.49607	T	0.09	-22.0162	20.0734	0.97734	0.0:1.0:0.0:0.0	.	397	O94829	IPO13_HUMAN	F	397	ENSP00000361418:L397F	ENSP00000361418:L397F	L	+	1	0	IPO13	44195153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.587000	0.82613	2.751000	0.94390	0.555000	0.69702	CTT		0.517	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		17	45	0	0	0	1	0	17	45				
ZNF543	125919	broad.mit.edu	37	19	57839469	57839469	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57839469C>T	ENST00000321545.4	+	4	984	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGAATGCCCTCCTTGTTCAGC	0.428																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(637-639)ctC>ctT		zinc finger protein 543							98.0	98.0	98.0					19																	57839469		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839469C>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.639C>T	19.37:g.57839469C>T							p.L213L	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	984	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	213					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.639C>T	CCDS33130.1																																																																																				0.428	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		45	58	0	0	0	1	0	45	58				
KRT79	338785	broad.mit.edu	37	12	53223873	53223873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:53223873C>T	ENST00000330553.5	-	4	823	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	263	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATGCAGATCCATCCGGCCCA	0.567																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(787-789)atG>atA		keratin 79							142.0	116.0	125.0					12																	53223873		2203	4300	6503	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53223873C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.789G>A	12.37:g.53223873C>T	ENSP00000328358:p.Met263Ile						p.M263I	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			4	823	-			263			Coil 1B.|Rod.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.789G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102753	0.37145	.	.	ENSG00000185640	ENST00000330553	D	0.87571	-2.27	4.54	3.63	0.41609	Filament (1);	0.238543	0.30076	N	0.010462	T	0.73305	0.3570	N	0.12422	0.21	0.37303	D	0.908776	B	0.13594	0.008	B	0.15052	0.012	T	0.71374	-0.4612	10	0.66056	D	0.02	.	6.0949	0.20015	0.1844:0.7207:0.0:0.0949	.	263	Q5XKE5	K2C79_HUMAN	I	263	ENSP00000328358:M263I	ENSP00000328358:M263I	M	-	3	0	KRT79	51510140	0.003000	0.15002	0.746000	0.31095	0.052000	0.14988	-0.267000	0.08619	1.485000	0.48380	0.655000	0.94253	ATG		0.567	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		24	40	0	0	0	1	0	24	40				
WDPCP	51057	broad.mit.edu	37	2	63661028	63661028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:63661028C>A	ENST00000272321.7	-	9	1203	c.676G>T	c.(676-678)Gag>Tag	p.E226*	WDPCP_ENST00000409199.1_Nonsense_Mutation_p.E34*|WDPCP_ENST00000409562.3_Nonsense_Mutation_p.E226*|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Nonsense_Mutation_p.E67*|WDPCP_ENST00000409120.1_Nonsense_Mutation_p.E34*	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	226					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGATGTCGCTCTGTTGTCTTG	0.388																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(100-102)Gag>Tag		WD repeat containing planar cell polarity effector							72.0	69.0	70.0					2																	63661028		1885	4094	5979	SO:0001587	stop_gained	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63661028C>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.676G>T	2.37:g.63661028C>A	ENSP00000272321:p.Glu226*					WDPCP_ENST00000398544.3_Nonsense_Mutation_p.E67*|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Nonsense_Mutation_p.E34*|WDPCP_ENST00000409562.3_Nonsense_Mutation_p.E226*|WDPCP_ENST00000272321.7_Nonsense_Mutation_p.E226*	p.E34*			O95876	FRITZ_HUMAN			3	3650	-			226					Q53RW4|Q7Z2Z3	Nonsense_Mutation	SNP	ENST00000272321.7	37	c.100G>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	57	28.825849	0.99974	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	.	.	.	5.43	1.51	0.23008	.	0.813415	0.11408	N	0.567081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-0.7688	7.6189	0.28173	0.0:0.4285:0.4137:0.1578	.	.	.	.	X	226;34;34;67;226	.	ENSP00000272321:E226X	E	-	1	0	WDPCP	63514532	0.803000	0.28956	0.310000	0.25168	0.819000	0.46315	0.737000	0.26144	-0.000000	0.14550	-0.302000	0.09304	GAG		0.388	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		15	37	1	0	2.23348e-06	1	2.24693e-06	15	37				
WDR16	146845	broad.mit.edu	37	17	9536340	9536340	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:9536340G>A	ENST00000352665.5	+	10	1379	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	WDR16_ENST00000299764.5_Missense_Mutation_p.G447E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.G369E	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						AGTGGCGGTGGGGAAGGGGAG	0.463																																						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.(1309-1311)gGg>gAg		WD repeat domain 16							54.0	50.0	51.0					17																	9536340		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9536340G>A	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.1310G>A	17.37:g.9536340G>A	ENSP00000339449:p.Gly437Glu					WDR16_ENST00000299764.5_Missense_Mutation_p.G447E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.G369E	p.G437E	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			10	1379	+			437						Missense_Mutation	SNP	ENST00000352665.5	37	c.1310G>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164282	0.78339	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.59502	0.26;0.26;0.26	4.89	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.051671	0.85682	D	0.000000	T	0.67392	0.2888	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.995;0.991;0.973	T	0.63611	-0.6598	10	0.26408	T	0.33	-19.6438	16.8592	0.86013	0.0:0.0:1.0:0.0	.	447;369;437	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	E	437;369;447	ENSP00000339449:G437E;ENSP00000379521:G369E;ENSP00000299764:G447E	ENSP00000299764:G447E	G	+	2	0	WDR16	9477065	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.259000	0.95561	2.242000	0.73789	0.462000	0.41574	GGG		0.463	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		29	28	0	0	0	1	0	29	28				
DENND5B	160518	broad.mit.edu	37	12	31600532	31600532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:31600532C>T	ENST00000389082.5	-	6	2065	c.1801G>A	c.(1801-1803)Gta>Ata	p.V601I	snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000536562.1_Missense_Mutation_p.V636I|DENND5B_ENST00000354285.4_Missense_Mutation_p.V623I|DENND5B_ENST00000306833.6_Missense_Mutation_p.V636I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	601					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTGCCCTTACATTATACAGC	0.368																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1801-1803)Gta>Ata		DENN/MADD domain containing 5B							68.0	64.0	66.0					12																	31600532		1854	4097	5951	SO:0001583	missense	160518					integral to membrane		g.chr12:31600532C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1801G>A	12.37:g.31600532C>T	ENSP00000373734:p.Val601Ile					DENND5B_ENST00000354285.4_Missense_Mutation_p.V623I|DENND5B_ENST00000536562.1_Missense_Mutation_p.V636I|DENND5B_ENST00000306833.6_Missense_Mutation_p.V636I	p.V601I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	2065	-			601					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1801G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272612	0.59649	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.05	5.05	0.67936	.	0.079729	0.49916	D	0.000138	T	0.42449	0.1203	L	0.56769	1.78	0.58432	D	0.999995	B;B;B	0.19445	0.036;0.001;0.004	B;B;B	0.21360	0.034;0.006;0.022	T	0.26292	-1.0107	10	0.22109	T	0.4	-19.9534	18.59	0.91206	0.0:1.0:0.0:0.0	.	623;601;636	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	I	601;636;636;623	ENSP00000373734:V601I;ENSP00000306482:V636I;ENSP00000444889:V636I;ENSP00000346238:V623I	ENSP00000306482:V636I	V	-	1	0	DENND5B	31491799	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.449000	0.60034	2.628000	0.89032	0.563000	0.77884	GTA		0.368	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		11	21	0	0	0	1	0	11	21				
LCMT2	9836	broad.mit.edu	37	15	43621176	43621176	+	Silent	SNP	C	C	T	rs539274680		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43621176C>T	ENST00000305641.5	-	1	1627	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Silent_p.V83V|ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	504					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTACAGGTTCCACCACGCTTC	0.493																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(1510-1512)gtG>gtA		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						123.0	120.0	121.0					15																	43621176		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621176C>T	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1512G>A	15.37:g.43621176C>T						LCMT2_ENST00000544735.1_Silent_p.V83V|LCMT2_ENST00000567039.1_3'UTR	p.V504V	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1627	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	504					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1512G>A	CCDS10094.1																																																																																				0.493	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		51	76	0	0	0	1	0	51	76				
MVP	9961	broad.mit.edu	37	16	29845167	29845167	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:29845167C>T	ENST00000357402.5	+	4	573	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Silent_p.F145F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	145					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTGGCTTTTCGAGGGACCTG	0.542																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(433-435)ttC>ttT		major vault protein							210.0	201.0	204.0					16																	29845167		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29845167C>T	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.435C>T	16.37:g.29845167C>T						MVP_ENST00000395353.1_Silent_p.F145F|MVP_ENST00000452209.2_Intron	p.F145F	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			4	573	+			145					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.435C>T	CCDS10656.1																																																																																				0.542	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		45	52	0	0	0	1	0	45	52				
LRRC4C	57689	broad.mit.edu	37	11	40136049	40136049	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:40136049A>T	ENST00000278198.2	-	2	3757	c.1794T>A	c.(1792-1794)taT>taA	p.Y598*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Y598*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	598					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTATGAGTTATAGTGATTTA	0.408																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1792-1794)taT>taA		leucine rich repeat containing 4C							230.0	222.0	225.0					11																	40136049		2203	4300	6503	SO:0001587	stop_gained	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136049A>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1794T>A	11.37:g.40136049A>T	ENSP00000278198:p.Tyr598*					LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Y598*	p.Y598*			Q9HCJ2	LRC4C_HUMAN			2	3757	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	598					A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	c.1794T>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	A	41	8.579155	0.98870	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	6.17	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0595	0.42266	0.8653:0.0:0.1347:0.0	.	.	.	.	X	598	.	ENSP00000278198:Y598X	Y	-	3	2	LRRC4C	40092625	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.389000	0.44407	0.570000	0.29347	0.533000	0.62120	TAT		0.408	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		51	75	0	0	0	1	0	51	75				
PCDH11X	27328	broad.mit.edu	37	X	91131890	91131890	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:91131890G>A	ENST00000373094.1	+	2	1496	c.651G>A	c.(649-651)atG>atA	p.M217I	PCDH11X_ENST00000361655.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M217I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTACGTGATGAAAGTAAAGG	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(649-651)atG>atA		protocadherin 11 X-linked							248.0	213.0	225.0					X																	91131890		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131890G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.651G>A	X.37:g.91131890G>A	ENSP00000362186:p.Met217Ile					PCDH11X_ENST00000395337.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M217I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M217I	p.M217I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	1496	+			217			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.651G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796906	0.70567	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.69	4.69	0.59074	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	N	0.21194	0.64	0.58432	D	0.999996	D;B;D;D;D;D;D;D	0.71674	0.997;0.198;0.989;0.997;0.997;0.998;0.989;0.989	D;B;D;D;D;D;D;D	0.85130	0.995;0.234;0.986;0.995;0.995;0.997;0.986;0.986	T	0.11567	-1.0582	10	0.72032	D	0.01	.	15.7202	0.77705	0.0:0.0:1.0:0.0	.	217;217;217;217;217;217;217;217	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	217	ENSP00000378746:M217I;ENSP00000362186:M217I;ENSP00000362189:M217I;ENSP00000355040:M217I;ENSP00000362180:M217I;ENSP00000423762:M217I;ENSP00000355105:M217I;ENSP00000384758:M217I;ENSP00000298274:M217I	ENSP00000298274:M217I	M	+	3	0	PCDH11X	91018546	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	9.507000	0.97996	1.897000	0.54924	0.544000	0.68410	ATG		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		70	143	0	0	0	1	0	70	143				
PDE4DIP	9659	broad.mit.edu	37	1	144917882	144917882	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144917882T>G	ENST00000369354.3	-	11	1593	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E605D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E255D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E631D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E468D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E605D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E534D|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.E631D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	468					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCATTTGCTTCAAGGGTTT	0.368			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1891-1893)gaA>gaC		phosphodiesterase 4D interacting protein							275.0	289.0	284.0					1																	144917882		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144917882T>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1404A>C	1.37:g.144917882T>G	ENSP00000358360:p.Glu468Asp					PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E534D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E605D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E605D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E631D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E255D	p.E631D			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	7	2332	-			468					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1893A>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366293	0.24771	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.65916	4.64;4.73;4.73;4.74;4.73;3.73;3.74;2.62;2.62;-0.18	5.78	3.41	0.39046	.	.	.	.	.	T	0.19644	0.0472	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B	0.21452	0.027;0.006;0.01;0.056;0.01	B;B;B;B;B	0.21360	0.018;0.009;0.019;0.034;0.008	T	0.09487	-1.0672	9	0.14252	T	0.57	.	4.9437	0.13978	0.0:0.121:0.1995:0.6795	.	631;468;631;534;468	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	D	534;468;468;631;605;605;468;468;631;631;255	ENSP00000327209:E534D;ENSP00000358360:E468D;ENSP00000358363:E468D;ENSP00000435654:E605D;ENSP00000358366:E605D;ENSP00000358357:E468D;ENSP00000358355:E468D;ENSP00000316434:E631D;ENSP00000433392:E631D;ENSP00000436791:E255D	ENSP00000327209:E534D	E	-	3	2	PDE4DIP	143629239	0.998000	0.40836	0.999000	0.59377	0.621000	0.37620	0.424000	0.21330	1.004000	0.39156	0.460000	0.39030	GAA		0.368	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		34	303	0	0	0	1	0	34	303				
METTL12	751071	broad.mit.edu	37	11	62434119	62434119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62434119G>A	ENST00000532971.1	+	3	576	c.319G>A	c.(319-321)Gac>Aac	p.D107N	C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000525675.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Intron|RP11-831H9.11_ENST00000528405.1_5'Flank|SNORA57_ENST00000383870.1_RNA	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	107						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GCTGGGGGTGGACTTTTCTCC	0.592																																						ENST00000532971.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(319-321)Gac>Aac		methyltransferase like 12							52.0	57.0	56.0					11																	62434119		1954	4153	6107	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62434119G>A	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.319G>A	11.37:g.62434119G>A	ENSP00000431287:p.Asp107Asn					C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron	p.D107N	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN			3	576	+			107					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.319G>A	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464138	0.84425	.	.	ENSG00000214756	ENST00000532971	T	0.68181	-0.31	4.87	4.87	0.63330	Methyltransferase type 11 (1);	0.000000	0.56097	U	0.000035	T	0.80565	0.4647	M	0.90309	3.105	0.48288	D	0.999623	P	0.40515	0.719	P	0.49708	0.62	D	0.84157	0.0426	10	0.66056	D	0.02	-17.8455	15.9235	0.79592	0.0:0.0:1.0:0.0	.	107	A8MUP2	MTL12_HUMAN	N	107	ENSP00000431287:D107N	ENSP00000431287:D107N	D	+	1	0	METTL12	62190695	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.437000	0.73421	2.700000	0.92200	0.655000	0.94253	GAC		0.592	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1	NM_001043229		21	45	0	0	0	1	0	21	45				
NLRP3	114548	broad.mit.edu	37	1	247588039	247588039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247588039C>T	ENST00000336119.3	+	3	2040	c.1294C>T	c.(1294-1296)Ctt>Ttt	p.L432F	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432F|NLRP3_ENST00000366497.2_Missense_Mutation_p.L432F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432F|NLRP3_ENST00000391827.2_Missense_Mutation_p.L432F|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432F	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	432	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L432I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGGCAAGAGCCTTGCCCAGAC	0.597																																						ENST00000366497.2																			1	Substitution - Missense(1)	p.L432I(1)	lung(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1294-1296)Ctt>Ttt		NLR family, pyrin domain containing 3							106.0	85.0	92.0					1																	247588039		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588039C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1294C>T	1.37:g.247588039C>T	ENSP00000337383:p.Leu432Phe					NLRP3_ENST00000391827.2_Missense_Mutation_p.L432F|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432F|NLRP3_ENST00000336119.3_Missense_Mutation_p.L432F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432F	p.L432F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2074	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	432			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1294C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	9.448	1.089927	0.20390	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.17	3.24	0.37175	NACHT nucleoside triphosphatase (1);	0.192252	0.26286	N	0.025252	D	0.88009	0.6322	M	0.64630	1.985	0.09310	N	1	B;P;B;P;D	0.63046	0.092;0.895;0.378;0.822;0.992	B;B;B;B;D	0.64687	0.036;0.372;0.233;0.43;0.928	T	0.77755	-0.2469	10	0.31617	T	0.26	.	8.3936	0.32544	0.0:0.8925:0.0:0.1075	.	432;432;432;432;432	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	F	432	ENSP00000375704:L432F;ENSP00000355453:L432F;ENSP00000337383:L432F;ENSP00000294752:L432F;ENSP00000355452:L432F;ENSP00000375703:L432F	ENSP00000337383:L432F	L	+	1	0	NLRP3	245654662	0.000000	0.05858	0.016000	0.15963	0.780000	0.44128	0.334000	0.19787	1.318000	0.45170	0.655000	0.94253	CTT		0.597	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		20	24	0	0	0	1	0	20	24				
MYO5B	4645	broad.mit.edu	37	18	47527718	47527718	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:47527718G>T	ENST00000285039.7	-	5	818	c.519C>A	c.(517-519)gcC>gcA	p.A173A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	173	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCATACTTGGCTGATACCG	0.517																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(517-519)gcC>gcA		myosin VB							126.0	123.0	124.0					18																	47527718		1925	4126	6051	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47527718G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.519C>A	18.37:g.47527718G>T							p.A173A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	5	818	-			173			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.519C>A	CCDS42436.1																																																																																				0.517	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			39	67	1	0	4.32679e-17	1	4.40457e-17	39	67				
FGFR3	2261	broad.mit.edu	37	4	1803570	1803570	+	Missense_Mutation	SNP	C	C	T	rs373470718		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:1803570C>T	ENST00000260795.2	+	6	850	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FGFR3_ENST00000481110.2_Missense_Mutation_p.P250S|FGFR3_ENST00000352904.1_Missense_Mutation_p.P250S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P250S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P250S|FGFR3_ENST00000340107.4_Missense_Mutation_p.P250S|FGFR3_ENST00000474521.1_3'UTR			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	250			P -> R (in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924). {ECO:0000269|PubMed:11746040, ECO:0000269|PubMed:9042914, ECO:0000269|PubMed:9525367, ECO:0000269|PubMed:9950359}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	AGAGCGCTCCCCGCACCGGCC	0.741		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(748-750)Ccg>Tcg		fibroblast growth factor receptor 3	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803570		2181	4266	6447	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803570C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.748C>T	4.37:g.1803570C>T	ENSP00000260795:p.Pro250Ser					FGFR3_ENST00000481110.2_Missense_Mutation_p.P250S|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.P250S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P250S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P250S|FGFR3_ENST00000352904.1_Missense_Mutation_p.P250S	p.P250S	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1004	+		Breast(71;0.212)|all_epithelial(65;0.241)	250		P -> R (in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924).			D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.748C>T	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	17.74	3.463898	0.63513	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;D;T;D;T;D	0.93189	-1.8;-1.49;-1.55;-1.49;-1.55;-1.49;-3.18	3.94	3.94	0.45596	.	0.053663	0.85682	D	0.000000	D	0.93396	0.7894	M	0.69463	2.115	0.25487	N	0.98768	B;B;P;P;P;D	0.59767	0.256;0.015;0.83;0.845;0.859;0.986	B;B;B;P;B;B	0.52454	0.063;0.084;0.256;0.699;0.259;0.339	D	0.87471	0.2414	10	0.45353	T	0.12	.	10.1048	0.42526	0.0:0.904:0.0:0.096	.	213;250;250;250;250;250	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	S	250;250;250;250;250;250;70	ENSP00000420533:P250S;ENSP00000339824:P250S;ENSP00000414914:P250S;ENSP00000412903:P250S;ENSP00000260795:P250S;ENSP00000231803:P250S;ENSP00000427289:P70S	ENSP00000260795:P250S	P	+	1	0	FGFR3	1773368	1.000000	0.71417	0.997000	0.53966	0.444000	0.32077	5.718000	0.68455	1.903000	0.55091	0.436000	0.28706	CCG		0.741	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		8	14	0	0	0	1	0	8	14				
ATCAY	85300	broad.mit.edu	37	19	3908331	3908331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:3908331C>T	ENST00000450849.2	+	6	1077	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	ATCAY_ENST00000301260.6_Missense_Mutation_p.L204F|ATCAY_ENST00000398448.3_Missense_Mutation_p.L210F|ATCAY_ENST00000600960.1_Missense_Mutation_p.L204F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	204	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACAGCAGCCTCCCCGACTA	0.642																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(610-612)Ctc>Ttc		ataxia, cerebellar, Cayman type							34.0	41.0	39.0					19																	3908331		2104	4216	6320	SO:0001583	missense	85300				transport		protein binding	g.chr19:3908331C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.610C>T	19.37:g.3908331C>T	ENSP00000390941:p.Leu204Phe					ATCAY_ENST00000301260.6_Missense_Mutation_p.L204F|ATCAY_ENST00000398448.3_Missense_Mutation_p.L210F|ATCAY_ENST00000600960.1_Missense_Mutation_p.L204F	p.L204F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	6	1077	+		Hepatocellular(1079;0.137)	204			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.610C>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286138	0.40394	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.29397	1.57;1.57;1.57	5.21	1.51	0.23008	Cellular retinaldehyde-binding/triple function, C-terminal (2);	1.130300	0.06451	N	0.727683	T	0.34135	0.0887	L	0.38175	1.15	0.27464	N	0.953074	P;B	0.42556	0.783;0.404	P;B	0.50314	0.637;0.389	T	0.27191	-1.0081	10	0.56958	D	0.05	-0.7194	5.1518	0.15013	0.0:0.207:0.3234:0.4696	.	210;204	B4DS11;Q86WG3	.;ATCAY_HUMAN	F	204;204;204;210;182	ENSP00000390941:L204F;ENSP00000301260:L204F;ENSP00000381466:L210F	ENSP00000301260:L204F	L	+	1	0	ATCAY	3859331	0.926000	0.31397	0.820000	0.32676	0.293000	0.27360	0.993000	0.29680	-0.032000	0.13758	-0.355000	0.07637	CTC		0.642	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			6	2	0	0	0	1	0	6	2				
DCC	1630	broad.mit.edu	37	18	50589706	50589706	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:50589706C>T	ENST00000442544.2	+	6	1633	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	DCC_ENST00000412726.1_Silent_p.N187N|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	339	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATCCTTCCAACCTGTATGCCT	0.438																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1015-1017)aaC>aaT		deleted in colorectal carcinoma							274.0	266.0	269.0					18																	50589706		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50589706C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1017C>T	18.37:g.50589706C>T						DCC_ENST00000581580.1_5'UTR|DCC_ENST00000412726.1_Silent_p.N187N|DCC_ENST00000580146.1_3'UTR	p.N339N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	6	1633	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	339			Ig-like C2-type 4.			Silent	SNP	ENST00000442544.2	37	c.1017C>T	CCDS11952.1																																																																																				0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		98	124	0	0	0	1	0	98	124				
C11orf30	56946	broad.mit.edu	37	11	76174919	76174919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76174919C>T	ENST00000529032.1	+	6	626	c.626C>T	c.(625-627)tCt>tTt	p.S209F	C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	209	Interaction with BRCA2.|Poly-Ser.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CGAACAAACTCTTCCAGCTCC	0.443																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(625-627)tCt>tTt		chromosome 11 open reading frame 30							176.0	179.0	178.0					11																	76174919		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76174919C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.626C>T	11.37:g.76174919C>T	ENSP00000432327:p.Ser209Phe					C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F	p.S209F			Q7Z589	EMSY_HUMAN			6	626	+			209			Interaction with BRCA2.|Poly-Ser.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.626C>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067290	0.76301	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.999;0.999;0.998;0.995;0.998	D;D;D;D;D;D;D;D	0.83275	0.986;0.986;0.986;0.996;0.996;0.991;0.986;0.991	T	0.58526	-0.7621	10	0.72032	D	0.01	-6.4668	19.6753	0.95930	0.0:1.0:0.0:0.0	.	223;224;224;209;159;210;210;209	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	F	210;209;209;159;224;223;210;224;209	ENSP00000431166:S210F;ENSP00000334130:S209F;ENSP00000344688:S209F;ENSP00000433205:S224F;ENSP00000433634:S223F;ENSP00000432010:S210F;ENSP00000436968:S224F;ENSP00000432327:S209F	ENSP00000334130:S209F	S	+	2	0	C11orf30	75852567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.648000	0.89879	0.563000	0.77884	TCT		0.443	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		64	99	0	0	0	1	0	64	99				
GPR64	10149	broad.mit.edu	37	X	19032136	19032136	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:19032136G>A	ENST00000379869.3	-	16	930	c.767C>T	c.(766-768)tCt>tTt	p.S256F	GPR64_ENST00000356606.4_Missense_Mutation_p.S242F|GPR64_ENST00000379878.3_Missense_Mutation_p.S240F|GPR64_ENST00000360279.4_Missense_Mutation_p.S234F|GPR64_ENST00000379876.1_Missense_Mutation_p.S232F|GPR64_ENST00000357991.3_Missense_Mutation_p.S253F|GPR64_ENST00000379873.2_Missense_Mutation_p.S256F|GPR64_ENST00000340581.3_Missense_Mutation_p.S226F|GPR64_ENST00000357544.3_Missense_Mutation_p.S226F|GPR64_ENST00000354791.3_Missense_Mutation_p.S240F	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	256					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGGCTGGAAGAAAATGGTGG	0.522																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(718-720)tCt>tTt		G protein-coupled receptor 64							48.0	47.0	48.0					X																	19032136		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19032136G>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.767C>T	X.37:g.19032136G>A	ENSP00000369198:p.Ser256Phe					GPR64_ENST00000340581.3_Missense_Mutation_p.S226F|GPR64_ENST00000379873.2_Missense_Mutation_p.S256F|GPR64_ENST00000360279.4_Missense_Mutation_p.S234F|GPR64_ENST00000379878.3_Missense_Mutation_p.S240F|GPR64_ENST00000357544.3_Missense_Mutation_p.S226F|GPR64_ENST00000379869.3_Missense_Mutation_p.S256F|GPR64_ENST00000357991.3_Missense_Mutation_p.S253F|GPR64_ENST00000356606.4_Missense_Mutation_p.S242F|GPR64_ENST00000379876.1_Missense_Mutation_p.S232F	p.S240F			Q8IZP9	GPR64_HUMAN			15	960	-	Hepatocellular(33;0.183)		256					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.719C>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575775	0.45902	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.35789	1.36;1.47;1.47;1.47;1.46;1.52;1.46;1.52;1.51;1.29	5.27	5.27	0.74061	.	0.255620	0.28098	N	0.016609	T	0.46054	0.1373	L	0.29908	0.895	0.32184	N	0.580042	P;B;P;B;B;B;D;P;B;B;B	0.69078	0.94;0.001;0.594;0.001;0.001;0.394;0.997;0.594;0.394;0.001;0.274	P;B;B;B;B;B;D;B;B;B;B	0.65443	0.564;0.007;0.25;0.007;0.007;0.25;0.935;0.25;0.25;0.003;0.127	T	0.56655	-0.7943	10	0.87932	D	0	.	13.4635	0.61241	0.0:0.0:1.0:0.0	.	226;218;226;232;240;256;234;242;253;256;240	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	F	256;240;240;232;226;256;234;253;242;226	ENSP00000369202:S256F;ENSP00000369207:S240F;ENSP00000346845:S240F;ENSP00000369205:S232F;ENSP00000350152:S226F;ENSP00000369198:S256F;ENSP00000353421:S234F;ENSP00000350680:S253F;ENSP00000349015:S242F;ENSP00000344972:S226F	ENSP00000344972:S226F	S	-	2	0	GPR64	18942057	1.000000	0.71417	0.968000	0.41197	0.134000	0.20937	2.025000	0.41059	2.333000	0.79357	0.436000	0.28706	TCT		0.522	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			25	36	0	0	0	1	0	25	36				
L1CAM	3897	broad.mit.edu	37	X	153133365	153133365	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153133365C>T	ENST00000370060.1	-	16	2018	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	L1CAM_ENST00000370055.1_Splice_Site_p.G605E|L1CAM_ENST00000370057.3_Splice_Site_p.G610E|L1CAM_ENST00000543994.1_Splice_Site_p.G612E|L1CAM_ENST00000538883.1_Splice_Site_p.G612E|L1CAM_ENST00000361699.4_Splice_Site_p.G610E|L1CAM_ENST00000361981.3_Splice_Site_p.G605E	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	610					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGGGCTCCCTGAGGGTGG	0.662																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.e16-1		L1 cell adhesion molecule							40.0	42.0	41.0					X																	153133365		2202	4290	6492	SO:0001630	splice_region_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153133365C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1829-1G>A	X.37:g.153133365C>T						L1CAM_ENST00000370055.1_Splice_Site_p.G605_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G612_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G605_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G612_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G610_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G610_splice	p.G610_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			16	2018	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		610					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Splice_Site	SNP	ENST00000370060.1	37	c.1828_splice	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586291	0.28268	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	4.67	4.67	0.58626	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.197237	0.34314	N	0.004063	T	0.81837	0.4907	L	0.43923	1.385	0.38790	D	0.95496	D;D;P	0.89917	0.973;1.0;0.809	P;D;B	0.81914	0.818;0.995;0.286	T	0.81154	-0.1062	10	0.32370	T	0.25	.	11.7755	0.51983	0.0:1.0:0.0:0.0	.	605;610;610	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	E	610;612;610;612;605;605;610	ENSP00000359077:G610E;ENSP00000438430:G612E;ENSP00000359074:G610E;ENSP00000439645:G612E;ENSP00000354712:G605E;ENSP00000359072:G605E;ENSP00000355380:G610E	ENSP00000355380:G610E	G	-	2	0	L1CAM	152786559	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	3.585000	0.53943	2.162000	0.67917	0.529000	0.55759	GGG		0.662	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	Missense_Mutation	73	74	0	0	0	1	0	73	74				
KRCC1	51315	broad.mit.edu	37	2	88327774	88327774	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:88327774G>A	ENST00000347055.3	-	4	702	c.309C>T	c.(307-309)taC>taT	p.Y103Y		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	103										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGAACTGACAGTAGCTCAGAG	0.433																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(307-309)taC>taT		lysine-rich coiled-coil 1							112.0	107.0	109.0					2																	88327774		2203	4300	6503	SO:0001819	synonymous_variant	51315							g.chr2:88327774G>A	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.309C>T	2.37:g.88327774G>A							p.Y103Y	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	702	-			103					Q3B7J7	Silent	SNP	ENST00000347055.3	37	c.309C>T	CCDS2000.1																																																																																				0.433	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		37	56	0	0	0	1	0	37	56				
TTBK2	146057	broad.mit.edu	37	15	43038281	43038281	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:43038281C>T	ENST00000267890.6	-	15	3555	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1149					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CACTGGGACTCCTGCGAGGGA	0.562																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(3445-3447)agG>agA		tau tubulin kinase 2							165.0	177.0	173.0					15																	43038281		2077	4195	6272	SO:0001819	synonymous_variant	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43038281C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3447G>A	15.37:g.43038281C>T							p.R1149R	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	15	3555	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	1149					O94932|Q6ZN52|Q8IVV1	Silent	SNP	ENST00000267890.6	37	c.3447G>A	CCDS42029.1																																																																																				0.562	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		38	87	0	0	0	1	0	38	87				
ATG14	22863	broad.mit.edu	37	14	55848745	55848745	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:55848745G>A	ENST00000247178.5	-	6	847	c.812C>T	c.(811-813)cCt>cTt	p.P271L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	271					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCCATTGTTAGGGAGGCTAAT	0.507																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(811-813)cCt>cTt		autophagy related 14							176.0	142.0	153.0					14																	55848745		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848745G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.812C>T	14.37:g.55848745G>A	ENSP00000247178:p.Pro271Leu						p.P271L	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	847	-			271					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.812C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	23.4	4.407627	0.83340	.	.	ENSG00000126775	ENST00000247178	T	0.73152	-0.72	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78000	0.4215	M	0.64170	1.965	0.80722	D	1	D	0.52996	0.957	P	0.50405	0.64	T	0.79745	-0.1674	10	0.87932	D	0	-14.8532	20.207	0.98280	0.0:0.0:1.0:0.0	.	271	Q6ZNE5	BAKOR_HUMAN	L	271	ENSP00000247178:P271L	ENSP00000247178:P271L	P	-	2	0	ATG14	54918498	1.000000	0.71417	0.806000	0.32338	0.217000	0.24651	9.860000	0.99555	2.765000	0.95021	0.650000	0.86243	CCT		0.507	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		38	69	0	0	0	1	0	38	69				
DENND4C	55667	broad.mit.edu	37	9	19358055	19358055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:19358055G>A	ENST00000380432.2	+	23	4235	c.4202G>A	c.(4201-4203)cGa>cAa	p.R1401Q	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1637Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1686Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1401					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1401L(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCTTTGACTCGAAGTCACAGT	0.398																																						ENST00000307015.9																			1	Substitution - Missense(1)	p.R1401L(1)	large_intestine(1)	breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2620-2622)cGa>cAa		DENN/MADD domain containing 4C							102.0	91.0	95.0					9																	19358055		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19358055G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4202G>A	9.37:g.19358055G>A	ENSP00000369797:p.Arg1401Gln					DENND4C_ENST00000380432.2_Missense_Mutation_p.R1401Q|DENND4C_ENST00000540671.1_Missense_Mutation_p.R731Q|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1637Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1686Q	p.R874Q			Q5VZ89	DEN4C_HUMAN			24	4373	+			1401					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.2621G>A		.	.	.	.	.	.	.	.	.	.	G	25.2	4.613741	0.87359	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.35236	1.34;1.32	5.67	5.67	0.87782	.	1.146860	0.06258	N	0.693460	T	0.56441	0.1985	M	0.78049	2.395	0.51012	D	0.9999	P;P;P	0.52842	0.956;0.956;0.702	P;P;B	0.47118	0.46;0.538;0.07	T	0.60352	-0.7280	10	0.66056	D	0.02	-10.0663	20.1358	0.98028	0.0:0.0:1.0:0.0	.	731;583;1401	B7Z660;Q5VZ89-3;Q5VZ89	.;.;DEN4C_HUMAN	Q	1401;874;583;731;874;583;398	ENSP00000305795:R874Q;ENSP00000443804:R731Q	ENSP00000305795:R874Q	R	+	2	0	DENND4C	19348055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.765000	0.74965	2.833000	0.97629	0.585000	0.79938	CGA		0.398	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		32	16	0	0	0	1	0	32	16				
GUCY2D	3000	broad.mit.edu	37	17	7907314	7907314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7907314C>T	ENST00000254854.4	+	3	1016	c.866C>T	c.(865-867)cCg>cTg	p.P289L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	289					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TCCCCAGGCCCGGAGGCCTTG	0.682																																						ENST00000254854.4																			0				skin(1)	1						c.(865-867)cCg>cTg		guanylate cyclase 2D, membrane (retina-specific)							100.0	101.0	101.0					17																	7907314		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907314C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.866C>T	17.37:g.7907314C>T	ENSP00000254854:p.Pro289Leu						p.P289L	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			3	1016	+		Prostate(122;0.157)	289					Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.866C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696510	0.30142	.	.	ENSG00000132518	ENST00000254854	T	0.74737	-0.87	4.53	0.111	0.14619	Extracellular ligand-binding receptor (1);	0.303106	0.23999	N	0.042493	T	0.62539	0.2436	L	0.51422	1.61	0.20307	N	0.999916	B	0.13145	0.007	B	0.13407	0.009	T	0.46275	-0.9203	10	0.11182	T	0.66	.	11.5349	0.50631	0.1299:0.3625:0.5076:0.0	.	289	Q02846	GUC2D_HUMAN	L	289	ENSP00000254854:P289L	ENSP00000254854:P289L	P	+	2	0	GUCY2D	7848039	0.000000	0.05858	0.094000	0.20943	0.772000	0.43724	-0.271000	0.08572	-0.077000	0.12752	-0.264000	0.10439	CCG		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			88	30	0	0	0	1	0	88	30				
GRIA4	2893	broad.mit.edu	37	11	105804674	105804674	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:105804674C>G	ENST00000530497.1	+	13	2273	c.2273C>G	c.(2272-2274)aCg>aGg	p.T758R	GRIA4_ENST00000393127.2_Missense_Mutation_p.T758R|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T758R|GRIA4_ENST00000282499.5_Missense_Mutation_p.T758R|AP000673.1_ENST00000583628.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	758					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGAGTAGCAACGCCCAAGGGT	0.428																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2272-2274)aCg>aGg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						96.0	80.0	85.0					11																	105804674		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105804674C>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2273C>G	11.37:g.105804674C>G	ENSP00000435775:p.Thr758Arg					GRIA4_ENST00000282499.5_Missense_Mutation_p.T758R|GRIA4_ENST00000530497.1_Missense_Mutation_p.T758R|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T758R	p.T758R	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	14	2719	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	758					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2273C>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467187	0.84533	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000002	T	0.75852	0.3906	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82995	-0.0180	10	0.87932	D	0	.	19.4058	0.94647	0.0:1.0:0.0:0.0	.	758;758	P48058;G3V164	GRIA4_HUMAN;.	R	758;758;758;758;63	ENSP00000282499:T758R;ENSP00000376835:T758R;ENSP00000435775:T758R;ENSP00000432180:T758R	ENSP00000282499:T758R	T	+	2	0	GRIA4	105309884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.730000	0.84881	2.591000	0.87537	0.585000	0.79938	ACG		0.428	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			20	28	0	0	0	1	0	20	28				
CLASP1	23332	broad.mit.edu	37	2	122125366	122125366	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:122125366G>A	ENST00000263710.4	-	35	4073	c.3684C>T	c.(3682-3684)ggC>ggT	p.G1228G	CLASP1_ENST00000545861.1_Silent_p.G935G|CLASP1_ENST00000455322.2_Silent_p.G1184G|CLASP1_ENST00000409078.3_Silent_p.G1161G|CLASP1_ENST00000397587.3_Silent_p.G1168G|CLASP1_ENST00000541859.1_Silent_p.G945G|CLASP1_ENST00000541377.1_Silent_p.G1167G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1228					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TACCCCCCCGGCCCTCAGTGG	0.632																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3682-3684)ggC>ggT		cytoplasmic linker associated protein 1							55.0	59.0	58.0					2																	122125366		1966	4146	6112	SO:0001819	synonymous_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125366G>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3684C>T	2.37:g.122125366G>A						CLASP1_ENST00000397587.3_Silent_p.G1168G|CLASP1_ENST00000541377.1_Silent_p.G1167G|CLASP1_ENST00000545861.1_Silent_p.G935G|CLASP1_ENST00000409078.3_Silent_p.G1161G|CLASP1_ENST00000541859.1_Silent_p.G945G|CLASP1_ENST00000455322.2_Silent_p.G1184G	p.G1228G	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN			35	4073	-	Renal(3;0.0496)		1228					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	ENST00000263710.4	37	c.3684C>T																																																																																					0.632	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		17	40	0	0	0	1	0	17	40				
MS4A5	64232	broad.mit.edu	37	11	60197151	60197151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60197151G>A	ENST00000300190.2	+	1	90	c.4G>A	c.(4-6)Gat>Aat	p.D2N	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	2						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACCATCATGGATTCAAGCAC	0.453																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(4-6)Gat>Aat		membrane-spanning 4-domains, subfamily A, member 5							111.0	111.0	111.0					11																	60197151		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60197151G>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.4G>A	11.37:g.60197151G>A	ENSP00000300190:p.Asp2Asn					MS4A5_ENST00000534071.1_3'UTR	p.D2N	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			1	90	+			2					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.4G>A	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314679	0.40996	.	.	ENSG00000166930	ENST00000300190	T	0.12255	2.7	4.66	-4.88	0.03113	.	1.872440	0.02279	N	0.069267	T	0.09905	0.0243	N	0.20986	0.625	0.18873	N	0.999987	B	0.09022	0.002	B	0.08055	0.003	T	0.28839	-1.0031	10	0.18710	T	0.47	-0.02	12.185	0.54234	0.7283:0.0:0.2717:0.0	.	2	Q9H3V2	MS4A5_HUMAN	N	2	ENSP00000300190:D2N	ENSP00000300190:D2N	D	+	1	0	MS4A5	59953727	0.000000	0.05858	0.006000	0.13384	0.533000	0.34776	-1.184000	0.03076	-1.240000	0.02529	0.467000	0.42956	GAT		0.453	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			53	77	0	0	0	1	0	53	77				
OR6C70	390327	broad.mit.edu	37	12	55863154	55863154	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55863154A>T	ENST00000327335.4	-	1	768	c.769T>A	c.(769-771)Tac>Aac	p.Y257N	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGCTTTATGTAGATAAACATA	0.388																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(769-771)Tac>Aac		olfactory receptor, family 6, subfamily C, member 70							104.0	98.0	100.0					12																	55863154		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863154A>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.769T>A	12.37:g.55863154A>T	ENSP00000329153:p.Tyr257Asn					RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.Y257N	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	768	-			257						Missense_Mutation	SNP	ENST00000327335.4	37	c.769T>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	A	9.600	1.128493	0.21041	.	.	ENSG00000184954	ENST00000327335	T	0.00282	8.31	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.00967	0.0032	H	0.97186	3.955	0.09310	N	1	D	0.67145	0.996	D	0.68483	0.958	T	0.16958	-1.0385	10	0.87932	D	0	.	9.5852	0.39512	0.8432:0.0:0.0:0.1568	.	257	A6NIJ9	O6C70_HUMAN	N	257	ENSP00000329153:Y257N	ENSP00000329153:Y257N	Y	-	1	0	OR6C70	54149421	0.004000	0.15560	0.047000	0.18901	0.002000	0.02628	1.989000	0.40707	1.858000	0.53909	0.528000	0.53228	TAC		0.388	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			50	53	0	0	0	1	0	50	53				
SLC29A2	3177	broad.mit.edu	37	11	66133980	66133980	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66133980G>A	ENST00000357440.2	-	8	1017	c.789C>T	c.(787-789)gaC>gaT	p.D263D	SLC29A2_ENST00000544554.1_Silent_p.D263D|SLC29A2_ENST00000546034.1_Silent_p.D263D|SLC29A2_ENST00000311161.7_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	263					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCTTCTCCAGGTCAAGATCCA	0.567																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(787-789)gaC>gaT		solute carrier family 29 (equilibrative nucleoside transporter), member 2							66.0	61.0	63.0					11																	66133980		2200	4295	6495	SO:0001819	synonymous_variant	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133980G>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.789C>T	11.37:g.66133980G>A						SLC29A2_ENST00000546034.1_Silent_p.D263D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Silent_p.D263D	p.D263D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			8	1017	-			263					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Silent	SNP	ENST00000357440.2	37	c.789C>T	CCDS8137.1																																																																																				0.567	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		17	31	0	0	0	1	0	17	31				
SMG1	23049	broad.mit.edu	37	16	18841660	18841660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:18841660G>A	ENST00000446231.2	-	52	9236	c.8824C>T	c.(8824-8826)Caa>Taa	p.Q2942*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q2942*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2942					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTCTCGGTTGGATTAATTCA	0.408																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(8824-8826)Caa>Taa		SMG1 phosphatidylinositol 3-kinase-related kinase							77.0	72.0	74.0					16																	18841660		1870	4109	5979	SO:0001587	stop_gained	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18841660G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8824C>T	16.37:g.18841660G>A	ENSP00000402515:p.Gln2942*					SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q2942*	p.Q2942*			Q96Q15	SMG1_HUMAN			52	9236	-			2942					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	ENST00000446231.2	37	c.8824C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	52	18.916556	0.99912	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	2942	.	ENSP00000374118:Q2942X	Q	-	1	0	SMG1	18749161	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.582000	0.98214	2.805000	0.96524	0.655000	0.94253	CAA		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		15	22	0	0	0	1	0	15	22				
ABCC4	10257	broad.mit.edu	37	13	95813448	95813448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:95813448G>A	ENST00000376887.4	-	19	2564	c.2450C>T	c.(2449-2451)cCa>cTa	p.P817L	ABCC4_ENST00000536256.1_Missense_Mutation_p.P742L|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770L|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	817	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CTTACCTATTGGATTTCTATC	0.348																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2449-2451)cCa>cTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						72.0	73.0	73.0					13																	95813448		2203	4300	6503	SO:0001583	missense	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95813448G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2450C>T	13.37:g.95813448G>A	ENSP00000366084:p.Pro817Leu					ABCC4_ENST00000536256.1_Missense_Mutation_p.P742L|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770L|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817L	p.P817L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			19	2564	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		817			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	c.2450C>T	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694168	0.88735	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.92545	-2.62;-2.62;-3.06;-3.06	5.45	5.45	0.79879	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.998;0.994	D;P;D;D	0.74674	0.984;0.88;0.957;0.927	D	0.97679	1.0171	10	0.87932	D	0	.	19.6695	0.95905	0.0:0.0:1.0:0.0	.	742;770;817;817	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	L	770;817;742;817	ENSP00000388657:P770L;ENSP00000366084:P817L;ENSP00000442024:P742L;ENSP00000398562:P817L	ENSP00000366084:P817L	P	-	2	0	ABCC4	94611449	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.151000	0.94674	2.701000	0.92244	0.650000	0.86243	CCA		0.348	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		9	19	0	0	0	1	0	9	19				
IDUA	3425	broad.mit.edu	37	4	996897	996897	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:996897G>A	ENST00000247933.4	+	10	1564	c.1476G>A	c.(1474-1476)cgG>cgA	p.R492R	IDUA_ENST00000514224.1_Silent_p.R360R|IDUA_ENST00000453894.1_Silent_p.R514R	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	492			R -> P (in MPS1S). {ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550232}.		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)			GCCTGGGCCGGCCCGTCTTCC	0.776																																						ENST00000453894.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1540-1542)cgG>cgA		iduronidase, alpha-L-	Laronidase(DB00090)																																			SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:996897G>A	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.1476G>A	4.37:g.996897G>A						IDUA_ENST00000247933.4_Silent_p.R492R|IDUA_ENST00000514224.1_Silent_p.R360R	p.R514R			P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	1630	+			492					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.1542G>A	CCDS3343.1																																																																																				0.776	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		3	6	0	0	0	1	0	3	6				
DACH1	1602	broad.mit.edu	37	13	72256016	72256016	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:72256016C>T	ENST00000359684.2	-	2	880	c.881G>A	c.(880-882)aGg>aAg	p.R294K	DACH1_ENST00000313174.7_Missense_Mutation_p.R294K|DACH1_ENST00000305425.4_Missense_Mutation_p.R294K|DACH1_ENST00000354591.4_Missense_Mutation_p.R294K			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	294	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ACTTTGAGTCCTCTTAGGAGG	0.423																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(880-882)aGg>aAg		dachshund homolog 1 (Drosophila)							94.0	90.0	91.0					13																	72256016		1886	4125	6011	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72256016C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.881G>A	13.37:g.72256016C>T	ENSP00000352712:p.Arg294Lys					DACH1_ENST00000359684.2_Missense_Mutation_p.R294K|DACH1_ENST00000354591.4_Missense_Mutation_p.R294K|DACH1_ENST00000313174.7_Missense_Mutation_p.R294K	p.R294K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	2	1303	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	292			Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.881G>A		.	.	.	.	.	.	.	.	.	.	C	24.7	4.565426	0.86439	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.37915	1.17;1.21;1.29;1.21	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.65498	2.005	0.80722	D	1	D;D;D	0.67145	0.99;0.99;0.996	D;D;D	0.72982	0.979;0.979;0.96	T	0.62487	-0.6844	10	0.87932	D	0	-13.4874	19.7401	0.96223	0.0:1.0:0.0:0.0	.	292;292;292	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	K	294	ENSP00000304994:R294K;ENSP00000318506:R294K;ENSP00000346604:R294K;ENSP00000352712:R294K	ENSP00000304994:R294K	R	-	2	0	DACH1	71154017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.741000	0.93983	0.557000	0.71058	AGG		0.423	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		28	28	0	0	0	1	0	28	28				
MMP24	10893	broad.mit.edu	37	20	33867794	33867794	+	IGR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:33867794G>A	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374436.3_Missense_Mutation_p.S166L|EIF6_ENST00000374450.3_Missense_Mutation_p.S166L|MMP24-AS1_ENST00000456790.1_RNA|EDEM2_ENST00000540582.1_5'Flank|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.S147L|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GTCTTCAATTGAAGTCTTGGG	0.537																																						ENST00000374450.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9						c.(496-498)tCa>tTa		eukaryotic translation initiation factor 6							184.0	184.0	184.0					20																	33867794		2203	4300	6503	SO:0001628	intergenic_variant	3692				mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity	g.chr20:33867794G>A	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867794G>A						EIF6_ENST00000374436.3_Missense_Mutation_p.S166L|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.S147L	p.S166L	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		5	761	-			166					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.497C>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	34	5.363891	0.95877	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.25	5.25	0.73442	.	0.124804	0.56097	D	0.000030	D	0.84120	0.5402	M	0.91818	3.245	0.58432	D	0.999999	D;P	0.58970	0.984;0.956	P;P	0.59825	0.864;0.817	D	0.87797	0.2622	9	0.87932	D	0	-0.6913	18.2556	0.90019	0.0:0.0:1.0:0.0	.	147;166	B7ZBG9;P56537	.;IF6_HUMAN	L	166;147;166	.	ENSP00000363559:S166L	S	-	2	0	EIF6	33331208	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.610000	0.82949	2.641000	0.89580	0.555000	0.69702	TCA		0.537	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		88	112	0	0	0	1	0	88	112				
CEP89	84902	broad.mit.edu	37	19	33444520	33444520	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:33444520C>T	ENST00000305768.5	-	4	581		c.e4+1		CEP89_ENST00000590597.2_Splice_Site	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa						cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						ATAGAAAACACCTGATTTCTG	0.463																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.e4+1		centrosomal protein 89kDa							425.0	466.0	452.0					19																	33444520		2203	4300	6503	SO:0001630	splice_region_variant	84902					centrosome|spindle pole		g.chr19:33444520C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.492+1G>A	19.37:g.33444520C>T						CEP89_ENST00000590597.1_Splice_Site		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	581	-								B9EGA6|Q8N5J8	Splice_Site	SNP	ENST00000305768.5	37		CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378630	0.24944	.	.	ENSG00000121289	ENST00000305768	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4101	0.67109	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP89	38136360	1.000000	0.71417	0.987000	0.45799	0.023000	0.10783	1.501000	0.35693	2.532000	0.85374	0.591000	0.81541	.		0.463	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816	Intron	23	490	0	0	0	1	0	23	490				
BZRAP1	9256	broad.mit.edu	37	17	56389304	56389304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56389304C>T	ENST00000343736.4	-	17	3041	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E960K|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E900K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	960	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCCTCTCCCAGCCTGGT	0.652																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2878-2880)Gag>Aag		benzodiazapine receptor (peripheral) associated protein 1							24.0	28.0	26.0					17																	56389304		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389304C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2878G>A	17.37:g.56389304C>T	ENSP00000345824:p.Glu960Lys					BZRAP1_ENST00000268893.6_Missense_Mutation_p.E900K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E960K	p.E960K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			17	3748	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		960					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2878G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469056	0.84533	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.45668	0.89;0.89;0.89	4.95	4.95	0.65309	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.53802	0.1819	L	0.55103	1.725	0.58432	D	0.999992	P;D;P	0.56746	0.911;0.977;0.934	P;P;P	0.61003	0.514;0.882;0.812	T	0.48340	-0.9044	10	0.34782	T	0.22	.	12.9778	0.58546	0.0:0.9187:0.0:0.0813	.	960;900;960	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	K	960;960;900	ENSP00000347929:E960K;ENSP00000345824:E960K;ENSP00000268893:E900K	ENSP00000268893:E900K	E	-	1	0	BZRAP1	53744303	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.639000	0.61361	2.474000	0.83562	0.455000	0.32223	GAG		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		11	15	0	0	0	1	0	11	15				
A1BG	1	broad.mit.edu	37	19	58862847	58862847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58862847C>T	ENST00000263100.3	-	5	881	c.820G>A	c.(820-822)Gga>Aga	p.G274R	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	274	Ig-like V-type 3.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TAGTGACCTCCATCCCCCAGG	0.642																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(820-822)Gga>Aga		alpha-1-B glycoprotein							62.0	56.0	58.0					19																	58862847		2203	4300	6503	SO:0001583	missense	1					extracellular region		g.chr19:58862847C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.820G>A	19.37:g.58862847C>T	ENSP00000263100:p.Gly274Arg					A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	p.G274R	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	5	881	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	274			Ig-like V-type 3.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.820G>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293190	0.23564	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.12984	2.63	4.08	-3.23	0.05109	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.539390	0.04057	N	0.305713	T	0.16041	0.0386	L	0.45698	1.435	0.09310	N	1	B	0.30146	0.27	B	0.36378	0.223	T	0.42982	-0.9419	10	0.41790	T	0.15	.	10.1726	0.42920	0.0:0.2032:0.0:0.7968	.	274	P04217	A1BG_HUMAN	R	274;152	ENSP00000263100:G274R	ENSP00000263100:G274R	G	-	1	0	A1BG	63554659	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-1.190000	0.03058	-0.661000	0.05345	-0.379000	0.06801	GGA		0.642	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		28	46	0	0	0	1	0	28	46				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	26	0	0	0	1	0	3	26				
ZNF480	147657	broad.mit.edu	37	19	52825847	52825847	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52825847C>T	ENST00000595962.1	+	5	1410	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	ZNF480_ENST00000334564.7_Silent_p.I405I|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Silent_p.I371I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ATCTTGTAATCCACACTGGAG	0.408																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1342-1344)atC>atT		zinc finger protein 480							142.0	144.0	143.0					19																	52825847		2203	4300	6503	SO:0001819	synonymous_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825847C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1344C>T	19.37:g.52825847C>T						ZNF480_ENST00000335090.6_Silent_p.I371I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.I405I|ZNF480_ENST00000490272.1_3'UTR	p.I448I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1410	+			448					Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	c.1344C>T	CCDS12850.2																																																																																				0.408	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		34	53	0	0	0	1	0	34	53				
OR5AS1	219447	broad.mit.edu	37	11	55798563	55798563	+	Silent	SNP	C	C	T	rs371252680		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55798563C>T	ENST00000313555.1	+	1	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCATCCTCATCACTGTGTTGA	0.458																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(667-669)atC>atT		olfactory receptor, family 5, subfamily AS, member 1							197.0	186.0	190.0					11																	55798563		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798563C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.669C>T	11.37:g.55798563C>T							p.I223I	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	669	+	Esophageal squamous(21;0.00693)		223					Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.669C>T	CCDS31516.1																																																																																				0.458	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		54	99	0	0	0	1	0	54	99				
DST	667	broad.mit.edu	37	6	56351926	56351926	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:56351926G>A	ENST00000361203.3	-	82	20070	c.20063C>T	c.(20062-20064)aCc>aTc	p.T6688I	DST_ENST00000370788.2_Missense_Mutation_p.T4602I|DST_ENST00000421834.2_Missense_Mutation_p.T4711I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.T6977I|DST_ENST00000244364.6_Missense_Mutation_p.T4385I|DST_ENST00000370769.4_Missense_Mutation_p.T6799I|DST_ENST00000446842.2_Missense_Mutation_p.T6473I			Q03001	DYST_HUMAN	dystonin	6687					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCACATATGGTATCCCATTT	0.438																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(20929-20931)aCc>aTc		dystonin							121.0	117.0	118.0					6																	56351926		1905	4130	6035	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56351926G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.20063C>T	6.37:g.56351926G>A	ENSP00000354508:p.Thr6688Ile					DST_ENST00000244364.6_Missense_Mutation_p.T4385I|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.T6688I|DST_ENST00000421834.2_Missense_Mutation_p.T4711I|DST_ENST00000446842.2_Missense_Mutation_p.T6473I|DST_ENST00000370769.4_Missense_Mutation_p.T6799I|DST_ENST00000370788.2_Missense_Mutation_p.T4602I	p.T6977I			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		87	20929	-	Lung NSC(77;0.103)		6797					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.20930C>T		.	.	.	.	.	.	.	.	.	.	G	18.80	3.701408	0.68501	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.75;0.75;0.75	4.88	4.88	0.63580	.	0.000000	0.47455	D	0.000234	T	0.60508	0.2274	M	0.66939	2.045	0.33618	D	0.604481	P;D;D;B;D;P	0.89917	0.633;1.0;1.0;0.295;0.999;0.749	B;D;D;B;D;B	0.87578	0.438;0.998;0.991;0.179;0.998;0.406	T	0.57528	-0.7796	9	0.34782	T	0.22	.	18.39	0.90479	0.0:0.0:1.0:0.0	.	4711;6799;6977;81;6797;4385	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	I	4385;6977;6799;4711;6473;4602;6688	ENSP00000244364:T4385I;ENSP00000359790:T6977I;ENSP00000359805:T6799I;ENSP00000400883:T4711I;ENSP00000393645:T6473I;ENSP00000359824:T4602I;ENSP00000354508:T6688I	ENSP00000244364:T4385I	T	-	2	0	DST	56459885	1.000000	0.71417	0.812000	0.32479	0.992000	0.81027	9.813000	0.99286	2.420000	0.82092	0.557000	0.71058	ACC		0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	14	0	0	0	1	0	15	14				
HCFC1	3054	broad.mit.edu	37	X	153224146	153224146	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153224146G>A	ENST00000310441.7	-	10	2643	c.1677C>T	c.(1675-1677)atC>atT	p.I559I	HCFC1_ENST00000354233.3_Silent_p.I490I|HCFC1_ENST00000369984.4_Silent_p.I559I|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	559					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGGGGGGATCTTCTGGG	0.657																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1675-1677)atC>atT		host cell factor C1 (VP16-accessory protein)							35.0	41.0	39.0					X																	153224146		2061	4166	6227	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153224146G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1677C>T	X.37:g.153224146G>A						HCFC1_ENST00000354233.3_Silent_p.I490I|HCFC1_ENST00000369984.4_Silent_p.I559I	p.I559I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			10	2643	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		559					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.1677C>T	CCDS44020.1																																																																																				0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		32	57	0	0	0	1	0	32	57				
UTP18	51096	broad.mit.edu	37	17	49371299	49371299	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:49371299C>T	ENST00000225298.7	+	12	1596	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	513					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TTTCAAACTTCCCAGTCATTA	0.363																																						ENST00000225298.7																			0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(1537-1539)ttC>ttT		UTP18 small subunit (SSU) processome component homolog (yeast)							73.0	65.0	67.0					17																	49371299		1804	4062	5866	SO:0001819	synonymous_variant	51096				rRNA processing	nucleolus		g.chr17:49371299C>T	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.1539C>T	17.37:g.49371299C>T							p.F513F	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		12	1596	+			513					Q9H4N6	Silent	SNP	ENST00000225298.7	37	c.1539C>T	CCDS42362.1																																																																																				0.363	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		22	32	0	0	0	1	0	22	32				
COL4A6	1288	broad.mit.edu	37	X	107430382	107430382	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107430382G>A	ENST00000372216.4	-	23	1998	c.1898C>T	c.(1897-1899)cCt>cTt	p.P633L	COL4A6_ENST00000394872.2_Missense_Mutation_p.P633L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P632L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L|COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	633	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTATCTCCAGGAAGCCCACG	0.532									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1897-1899)cCt>cTt		collagen, type IV, alpha 6							222.0	214.0	217.0					X																	107430382		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430382G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1898C>T	X.37:g.107430382G>A	ENSP00000361290:p.Pro633Leu					COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P632L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P633L	p.P633L			Q14031	CO4A6_HUMAN			23	2129	-			633			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1898C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549548	0.65311	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.24	5.24	0.73138	.	0.173533	0.28098	N	0.016614	D	0.96664	0.8911	M	0.78637	2.42	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;0.995;1.0;0.999	D;D;D;D	0.97110	0.999;0.985;1.0;0.995	D	0.96660	0.9488	10	0.54805	T	0.06	.	18.4932	0.90855	0.0:0.0:1.0:0.0	.	632;632;633;632	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	633;632;633;632;632;632	ENSP00000361290:P633L;ENSP00000334733:P632L;ENSP00000378340:P633L;ENSP00000443707:P632L;ENSP00000445236:P632L	ENSP00000334733:P632L	P	-	2	0	COL4A6	107317038	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.773000	0.75006	2.504000	0.84457	0.600000	0.82982	CCT		0.532	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			192	231	0	0	0	1	0	192	231				
HMOX1	3162	broad.mit.edu	37	22	35783126	35783126	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:35783126G>A	ENST00000216117.8	+	3	932	c.593G>A	c.(592-594)aGg>aAg	p.R198K		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	198					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GTCAGGCAGAGGGTGATAGAA	0.607																																						ENST00000216117.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(592-594)aGg>aAg		heme oxygenase (decycling) 1	NADH(DB00157)						54.0	51.0	52.0					22																	35783126		2201	4298	6499	SO:0001583	missense	3162				angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	g.chr22:35783126G>A		CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.593G>A	22.37:g.35783126G>A	ENSP00000216117:p.Arg198Lys						p.R198K	NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN			3	932	+			198						Missense_Mutation	SNP	ENST00000216117.8	37	c.593G>A	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918783	0.17982	.	.	ENSG00000100292	ENST00000216117	T	0.22945	1.93	5.71	2.06	0.26882	Haem oxygenase-like, multi-helical (2);	0.233245	0.51477	D	0.000099	T	0.22936	0.0554	L	0.48986	1.54	0.35515	D	0.800971	B	0.18310	0.027	B	0.19946	0.027	T	0.21314	-1.0249	10	0.32370	T	0.25	-48.0503	11.9993	0.53222	0.2206:0.0:0.7794:0.0	.	198	P09601	HMOX1_HUMAN	K	198	ENSP00000216117:R198K	ENSP00000216117:R198K	R	+	2	0	HMOX1	34113126	1.000000	0.71417	0.120000	0.21714	0.003000	0.03518	3.196000	0.51020	0.773000	0.33404	-0.136000	0.14681	AGG		0.607	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			22	53	0	0	0	1	0	22	53				
ZNF689	115509	broad.mit.edu	37	16	30621329	30621329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:30621329C>T	ENST00000287461.3	-	1	371	c.34G>A	c.(34-36)Gga>Aga	p.G12R	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	12					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TTTCCTGGTCCCTGCGCAGGG	0.716																																						ENST00000287461.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(34-36)Gga>Aga		zinc finger protein 689							23.0	16.0	19.0					16																	30621329		2192	4298	6490	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30621329C>T	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.34G>A	16.37:g.30621329C>T	ENSP00000287461:p.Gly12Arg					ZNF689_ENST00000566673.1_Intron	p.G12R	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		1	371	-			12					Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.34G>A	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	C	9.131	1.011494	0.19277	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.06142	3.34	5.36	2.19	0.27852	.	0.664394	0.13292	N	0.398918	T	0.02610	0.0079	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46638	-0.9177	10	0.16420	T	0.52	-3.1166	7.6259	0.28212	0.2759:0.4352:0.2888:0.0	.	12	Q96CS4	ZN689_HUMAN	R	12	ENSP00000287461:G12R	ENSP00000287461:G12R	G	-	1	0	ZNF689	30528830	0.002000	0.14202	0.073000	0.20177	0.003000	0.03518	0.662000	0.25038	1.460000	0.47911	0.561000	0.74099	GGA		0.716	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		6	10	0	0	0	1	0	6	10				
FREM2	341640	broad.mit.edu	37	13	39263623	39263623	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:39263623G>A	ENST00000280481.7	+	1	2358	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	714					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTACAGGAATCCCAGC	0.567																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(2140-2142)caG>caA		FRAS1 related extracellular matrix protein 2							66.0	62.0	63.0					13																	39263623		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263623G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2142G>A	13.37:g.39263623G>A							p.Q714Q	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2358	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	714					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.2142G>A	CCDS31960.1																																																																																				0.567	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		15	27	0	0	0	1	0	15	27				
ACACB	32	broad.mit.edu	37	12	109684212	109684212	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:109684212A>G	ENST00000338432.7	+	39	5649	c.5530A>G	c.(5530-5532)Atg>Gtg	p.M1844V	ACACB_ENST00000377848.3_Missense_Mutation_p.M1844V|ACACB_ENST00000377854.5_Missense_Mutation_p.M1774V|ACACB_ENST00000543201.1_Missense_Mutation_p.M510V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1844	Carboxyltransferase.				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)	GATCAAACACATGTTCCACGT	0.567																																						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.(5530-5532)Atg>Gtg		acetyl-CoA carboxylase beta	Biotin(DB00121)						70.0	71.0	71.0					12																	109684212		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.chr12:109684212A>G	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.5530A>G	12.37:g.109684212A>G	ENSP00000341044:p.Met1844Val					ACACB_ENST00000543201.1_Missense_Mutation_p.M510V|ACACB_ENST00000377854.5_Missense_Mutation_p.M1774V|ACACB_ENST00000377848.3_Missense_Mutation_p.M1844V	p.M1844V			O00763	ACACB_HUMAN			39	5649	+			1844			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5530A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.405867	0.42715	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.29	2.86	0.33363	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.145901	0.85682	N	0.000000	D	0.93631	0.7966	L	0.42245	1.32	0.50171	D	0.99985	B	0.06786	0.001	B	0.12156	0.007	D	0.88177	0.2868	10	0.46703	T	0.11	.	8.1825	0.31319	0.7948:0.1348:0.0704:0.0	.	1844	O00763	ACACB_HUMAN	V	1844;1844;1774;1075;510	ENSP00000341044:M1844V;ENSP00000367079:M1844V;ENSP00000367085:M1774V;ENSP00000444075:M510V	ENSP00000341044:M1844V	M	+	1	0	ACACB	108168595	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	6.260000	0.72502	0.389000	0.25086	0.459000	0.35465	ATG		0.567	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		25	69	0	0	0	1	0	25	69				
FMOD	2331	broad.mit.edu	37	1	203317338	203317338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203317338C>T	ENST00000354955.4	-	2	524	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	21					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGTCATCTTCATACTGGGCC	0.572																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(61-63)Gaa>Aaa		fibromodulin							58.0	60.0	59.0					1																	203317338		2203	4300	6503	SO:0001583	missense	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203317338C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.61G>A	1.37:g.203317338C>T	ENSP00000347041:p.Glu21Lys					FMOD_ENST00000464898.1_5'UTR	p.E21K	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	524	-			21					Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	c.61G>A	CCDS30976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.98|13.98	2.398619|2.398619	0.42512|0.42512	.|.	.|.	ENSG00000122176|ENSG00000122176	ENST00000435105;ENST00000354955|ENST00000539467	T|.	0.55930|.	0.49|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.662303|.	0.14360|.	N|.	0.324465|.	T|T	0.39572|0.39572	0.1083|0.1083	N|N	0.14661|0.14661	0.345|0.345	0.26086|0.26086	N|N	0.981027|0.981027	B|.	0.17667|.	0.023|.	B|.	0.12156|.	0.007|.	T|T	0.45818|0.45818	-0.9235|-0.9235	10|6	0.59425|0.87932	D|D	0.04|0	-14.2578|-14.2578	18.0351|18.0351	0.89298|0.89298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	21|.	Q06828|.	FMOD_HUMAN|.	K|I	21|1	ENSP00000347041:E21K|.	ENSP00000347041:E21K|ENSP00000438680:M1I	E|M	-|-	1|3	0|0	FMOD|FMOD	201583961|201583961	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.730000|0.730000	0.41778|0.41778	3.493000|3.493000	0.53266|0.53266	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.572	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		26	37	0	0	0	1	0	26	37				
ZNF233	353355	broad.mit.edu	37	19	44777860	44777860	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44777860G>A	ENST00000391958.2	+	5	1174	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.R331R	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	349					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(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCCCGGAGCTCCAACC	0.527																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1045-1047)cgG>cgA		zinc finger protein 233							103.0	98.0	100.0					19																	44777860		2203	4300	6503	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777860G>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1047G>A	19.37:g.44777860G>A						ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.R331R	p.R349R	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1174	+		Prostate(69;0.0435)|all_neural(266;0.226)	349					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1047G>A	CCDS33047.1																																																																																				0.527	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		13	32	0	0	0	1	0	13	32				
MCPH1	79648	broad.mit.edu	37	8	6303035	6303035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:6303035G>T	ENST00000344683.5	+	8	1868	c.1792G>T	c.(1792-1794)Gag>Tag	p.E598*	MCPH1_ENST00000519480.1_Nonsense_Mutation_p.E598*|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.E550*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	598					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTCTACAGAAGAGAAGGAAAA	0.408																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1792-1794)Gag>Tag		microcephalin 1							58.0	53.0	54.0					8																	6303035		1866	4096	5962	SO:0001587	stop_gained	79648					microtubule organizing center		g.chr8:6303035G>T	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1792G>T	8.37:g.6303035G>T	ENSP00000342924:p.Glu598*					MCPH1_ENST00000522905.1_Nonsense_Mutation_p.E550*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.E598*	p.E598*	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	8	1868	+		Hepatocellular(245;0.0663)	598					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	ENST00000344683.5	37	c.1792G>T	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490577	0.84962	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	4.89	2.03	0.26663	.	0.334872	0.30051	N	0.010527	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.1698	7.2844	0.26330	0.0908:0.3246:0.5846:0.0	.	.	.	.	X	598;598;550	.	ENSP00000342924:E598X	E	+	1	0	MCPH1	6290443	0.384000	0.25164	0.001000	0.08648	0.152000	0.21847	1.468000	0.35332	0.178000	0.19917	0.563000	0.77884	GAG		0.408	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		28	44	1	0	3.65163e-15	1	3.71049e-15	28	44				
GAPVD1	26130	broad.mit.edu	37	9	128124962	128124962	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:128124962C>T	ENST00000495955.1	+	28	4664	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	GAPVD1_ENST00000394083.2_Silent_p.S1392S|GAPVD1_ENST00000470056.1_Silent_p.S1413S|GAPVD1_ENST00000312123.9_Silent_p.S1419S|GAPVD1_ENST00000394105.2_Silent_p.S1467S|GAPVD1_ENST00000297933.6_Silent_p.S1440S|GAPVD1_ENST00000265956.4_Silent_p.S1432S|GAPVD1_ENST00000394104.2_Silent_p.S1458S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1458	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GAGAGGAGTCCTATTGGTGGA	0.438																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4237-4239)tcC>tcT		GTPase activating protein and VPS9 domains 1							139.0	128.0	132.0					9																	128124962		2203	4300	6503	SO:0001819	synonymous_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128124962C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4374C>T	9.37:g.128124962C>T						GAPVD1_ENST00000265956.4_Silent_p.S1432S|GAPVD1_ENST00000495955.1_Silent_p.S1458S|GAPVD1_ENST00000297933.6_Silent_p.S1440S|GAPVD1_ENST00000394105.2_Silent_p.S1467S|GAPVD1_ENST00000394083.2_Silent_p.S1392S|GAPVD1_ENST00000312123.9_Silent_p.S1419S|GAPVD1_ENST00000394104.2_Silent_p.S1458S	p.S1413S			Q14C86	GAPD1_HUMAN			25	4399	+			1458			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37	c.4239C>T																																																																																					0.438	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			55	33	0	0	0	1	0	55	33				
MUC17	140453	broad.mit.edu	37	7	100683237	100683237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:100683237C>T	ENST00000306151.4	+	3	8604	c.8540C>T	c.(8539-8541)gCc>gTc	p.A2847V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2847	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A2847G(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACTAAAGCCAGTTCATCT	0.502																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A2847G(1)	lung(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8539-8541)gCc>gTc		mucin 17, cell surface associated							254.0	260.0	258.0					7																	100683237		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683237C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8540C>T	7.37:g.100683237C>T	ENSP00000302716:p.Ala2847Val						p.A2847V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8604	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2847			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8540C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968677	0.18659	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	1.21	0.301	0.15781	.	.	.	.	.	T	0.02418	0.0074	N	0.12182	0.205	0.09310	N	1	D	0.57571	0.98	P	0.53988	0.739	T	0.31916	-0.9926	9	0.07990	T	0.79	.	3.9044	0.09176	0.0:0.5636:0.0:0.4364	.	2847	Q685J3	MUC17_HUMAN	V	2847	ENSP00000302716:A2847V	ENSP00000302716:A2847V	A	+	2	0	MUC17	100469957	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.069000	0.11542	0.107000	0.17824	-1.404000	0.01136	GCC		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		135	295	0	0	0	1	0	135	295				
ZNF582	147948	broad.mit.edu	37	19	56896329	56896329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56896329C>T	ENST00000301310.4	-	5	615	c.457G>A	c.(457-459)Gac>Aac	p.D153N	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.D153N	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	153					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(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GCATGCTGGTCAAAAGTGGGC	0.378																																					Ovarian(183;1887 2032 4349 30507 51343)	ENST00000301310.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(457-459)Gac>Aac		zinc finger protein 582							135.0	134.0	134.0					19																	56896329		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56896329C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.457G>A	19.37:g.56896329C>T	ENSP00000301310:p.Asp153Asn					ZNF582_ENST00000586929.1_Missense_Mutation_p.D153N	p.D153N	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	615	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	153					B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.457G>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	4.638	0.118508	0.08881	.	.	ENSG00000018869	ENST00000301310	T	0.14391	2.51	4.23	-6.83	0.01693	.	1.315740	0.05545	N	0.566516	T	0.03783	0.0107	N	0.01686	-0.76	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42999	-0.9418	10	0.10111	T	0.7	.	7.3545	0.26711	0.0:0.2406:0.4112:0.3482	.	153;184	Q96NG8;B4DQZ9	ZN582_HUMAN;.	N	153	ENSP00000301310:D153N	ENSP00000301310:D153N	D	-	1	0	ZNF582	61588141	0.302000	0.24454	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	-1.204000	0.02648	-0.229000	0.12294	GAC		0.378	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		41	67	0	0	0	1	0	41	67				
ABCA9	10350	broad.mit.edu	37	17	67016551	67016551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:67016551C>T	ENST00000340001.4	-	19	2789	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E860K|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.E860K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	860					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTTTTTCTTTCTTTCTTTAAC	0.388																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2578-2580)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 9							65.0	69.0	67.0					17																	67016551		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016551C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2578G>A	17.37:g.67016551C>T	ENSP00000342216:p.Glu860Lys					ABCA9_ENST00000453985.2_Missense_Mutation_p.E860K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E860K	p.E860K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2789	-	Breast(10;1.47e-12)		860					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2578G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492539	0.64074	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.78595	-1.19;-1.19	5.08	5.08	0.68730	.	0.000000	0.46442	D	0.000288	D	0.84800	0.5552	M	0.79475	2.455	0.31010	N	0.719314	P;P	0.50943	0.94;0.905	P;P	0.56216	0.794;0.703	D	0.85964	0.1472	10	0.72032	D	0.01	.	13.2987	0.60313	0.159:0.841:0.0:0.0	.	860;860	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	860;843;860;855	ENSP00000342216:E860K;ENSP00000359767:E860K	ENSP00000342216:E860K	E	-	1	0	ABCA9	64528146	0.711000	0.27906	0.827000	0.32855	0.185000	0.23345	2.972000	0.49256	2.525000	0.85131	0.543000	0.68304	GAA		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		29	58	0	0	0	1	0	29	58				
CACNA1S	779	broad.mit.edu	37	1	201021714	201021714	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:201021714G>A	ENST00000362061.3	-	32	4150	c.3924C>T	c.(3922-3924)acC>acT	p.T1308T	CACNA1S_ENST00000367338.3_Silent_p.T1289T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1308					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGTGGGAAGGTCTGGAAGT	0.557																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3922-3924)acC>acT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						310.0	267.0	281.0					1																	201021714		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201021714G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3924C>T	1.37:g.201021714G>A						CACNA1S_ENST00000367338.3_Silent_p.T1289T	p.T1308T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			32	4150	-			1308					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3924C>T	CCDS1407.1																																																																																				0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		41	53	0	0	0	1	0	41	53				
OR6F1	343169	broad.mit.edu	37	1	247875782	247875782	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:247875782T>C	ENST00000302084.2	-	1	323	c.276A>G	c.(274-276)atA>atG	p.I92M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGTAAATGATATGGTCTGAC	0.483																																						ENST00000302084.2																			0				breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(274-276)atA>atG		olfactory receptor, family 6, subfamily F, member 1							119.0	118.0	118.0					1																	247875782		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875782T>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.276A>G	1.37:g.247875782T>C	ENSP00000305640:p.Ile92Met					RP11-634B7.4_ENST00000449298.1_RNA	p.I92M	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	323	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		92					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.276A>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.319493	0.23994	.	.	ENSG00000169214	ENST00000302084	T	0.02863	4.13	3.99	-7.97	0.01139	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000231	T	0.13200	0.0320	M	0.86268	2.805	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.05784	-1.0864	10	0.87932	D	0	-41.3838	18.8928	0.92412	0.0:0.0:0.7472:0.2528	.	92	Q8NGZ6	OR6F1_HUMAN	M	92	ENSP00000305640:I92M	ENSP00000305640:I92M	I	-	3	3	OR6F1	245942405	0.014000	0.17966	0.001000	0.08648	0.010000	0.07245	-1.365000	0.02587	-1.069000	0.03153	-0.435000	0.05868	ATA		0.483	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		40	16	0	0	0	1	0	40	16				
AMER1	139285	broad.mit.edu	37	X	63411019	63411019	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:63411019G>A	ENST00000330258.3	-	2	2420	c.2148C>T	c.(2146-2148)acC>acT	p.T716T	AMER1_ENST00000374869.3_Silent_p.T716T|AMER1_ENST00000403336.1_Silent_p.T716T	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	716					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GCATCAGGCAGGTACTTTGAT	0.522																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2146-2148)acC>acT		APC membrane recruitment protein 1							80.0	63.0	69.0					X																	63411019		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63411019G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2148C>T	X.37:g.63411019G>A						AMER1_ENST00000374869.3_Silent_p.T716T|AMER1_ENST00000403336.1_Silent_p.T716T	p.T716T	NM_152424.3	NP_689637.3					2	2420	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.2148C>T	CCDS14377.2																																																																																				0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		36	36	0	0	0	1	0	36	36				
MYO9B	4650	broad.mit.edu	37	19	17291808	17291808	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17291808C>T	ENST00000594824.1	+	15	2439	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L	MYO9B_ENST00000397274.2_Silent_p.L764L|MYO9B_ENST00000595618.1_Silent_p.L764L|CTD-3032J10.4_ENST00000594678.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	764	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GTAGCCTTCTCCAGTCCCTCA	0.612																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(2290-2292)ctC>ctT		myosin IXB							77.0	91.0	86.0					19																	17291808		1944	4120	6064	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17291808C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2292C>T	19.37:g.17291808C>T						MYO9B_ENST00000594824.1_Silent_p.L764L|MYO9B_ENST00000397274.2_Silent_p.L764L	p.L764L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			15	2444	+			764			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.2292C>T																																																																																					0.612	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			23	44	0	0	0	1	0	23	44				
CSH2	1443	broad.mit.edu	37	17	61949552	61949552	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:61949552C>T	ENST00000392886.2	-	5	739	c.588G>A	c.(586-588)atG>atA	p.M196I	CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.M139I	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	196						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CGACCTTGTCCATGTCCTTCC	0.562																																						ENST00000392886.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(586-588)atG>atA		chorionic somatomammotropin hormone 2							145.0	126.0	132.0					17																	61949552		2203	4298	6501	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949552C>T	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.588G>A	17.37:g.61949552C>T	ENSP00000376623:p.Met196Ile					CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR	p.M196I	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	739	-			196					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.588G>A	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	8.216	0.801411	0.16397	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.88509	-2.39;-2.39	3.97	0.674	0.17946	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	5.385890	0.00559	N	0.000278	D	0.93344	0.7878	M	0.79123	2.44	0.31059	N	0.714342	P;P;P	0.50943	0.94;0.94;0.917	D;D;P	0.63703	0.917;0.917;0.677	T	0.77138	-0.2698	10	0.62326	D	0.03	.	4.331	0.11064	0.1601:0.5943:0.1551:0.0906	.	196;196;101	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	I	101;196	ENSP00000308396:M101I;ENSP00000376623:M196I	ENSP00000308396:M101I	M	-	3	0	CSH2	59303284	1.000000	0.71417	0.954000	0.39281	0.001000	0.01503	2.738000	0.47401	0.001000	0.14605	-0.521000	0.04368	ATG		0.562	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		46	65	0	0	0	1	0	46	65				
RPL39	6170	broad.mit.edu	37	X	118920696	118920696	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118920696C>T	ENST00000361575.3	-	3	174		c.e3-1		SNORA69_ENST00000383895.1_RNA|RPL39_ENST00000468844.1_Splice_Site	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						GGAGTTGTACCTACACAGAAA	0.408																																						ENST00000361575.3																			0				endometrium(1)|large_intestine(2)	3						c.e3-1		ribosomal protein L39							152.0	135.0	140.0					X																	118920696		2203	4300	6503	SO:0001630	splice_region_variant	6170				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chrX:118920696C>T		CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"""L ribosomal proteins"""	10350	protein-coding gene	gene with protein product		300899	"""ribosomal protein L39 pseudogene 42"""	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.108-1G>A	X.37:g.118920696C>T						RPL39_ENST00000468844.1_Splice_Site		NM_001000.2	NP_000991.1	P62891	RL39_HUMAN			3	174	-								P02404|P39025|Q9BYF2	Splice_Site	SNP	ENST00000361575.3	37		CCDS14586.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.796158	0.70567	.	.	ENSG00000198918	ENST00000361575	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7111	0.69232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPL39	118804724	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.942000	0.75928	1.745000	0.51790	0.594000	0.82650	.		0.408	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058047.1	NM_001000	Intron	54	66	0	0	0	1	0	54	66				
DISP2	85455	broad.mit.edu	37	15	40660844	40660844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40660844G>A	ENST00000267889.3	+	8	2618	c.2531G>A	c.(2530-2532)tGg>tAg	p.W844*	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	844					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCCAGCGCTGGATGGAGAGC	0.657																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(2530-2532)tGg>tAg		dispatched homolog 2 (Drosophila)							19.0	22.0	21.0					15																	40660844		2203	4297	6500	SO:0001587	stop_gained	85455				smoothened signaling pathway	integral to membrane		g.chr15:40660844G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2531G>A	15.37:g.40660844G>A	ENSP00000267889:p.Trp844*						p.W844*	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	2618	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	844					Q6AHW3|Q9C0C1	Nonsense_Mutation	SNP	ENST00000267889.3	37	c.2531G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	39	7.350521	0.98228	.	.	ENSG00000140323	ENST00000267889	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8326	18.5194	0.90947	0.0:0.0:1.0:0.0	.	.	.	.	X	844	.	ENSP00000267889:W844X	W	+	2	0	DISP2	38448136	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	9.649000	0.98487	2.603000	0.88011	0.555000	0.69702	TGG		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		15	26	0	0	0	1	0	15	26				
PHACTR1	221692	broad.mit.edu	37	6	13185136	13185136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:13185136C>T	ENST00000379345.2	+	5	576	c.335C>T	c.(334-336)cCt>cTt	p.P112L	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	51					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGCTTTCCCTGGAGACCAT	0.577																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(334-336)cCt>cTt		phosphatase and actin regulator 1							114.0	113.0	113.0					6																	13185136		876	1991	2867	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185136C>T	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.335C>T	6.37:g.13185136C>T	ENSP00000368650:p.Pro112Leu					PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron	p.P112L			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	576	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	51					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379345.2	37	c.335C>T		.	.	.	.	.	.	.	.	.	.	C	17.02	3.281389	0.59758	.	.	ENSG00000112137	ENST00000432934;ENST00000379345;ENST00000434977	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.38371	D	0.944887	B	0.34329	0.449	B	0.28849	0.095	T	0.17961	-1.0352	6	.	.	.	.	19.7224	0.96148	0.0:1.0:0.0:0.0	.	257	E7ESR5	.	L	257;112;143	.	.	P	+	2	0	PHACTR1	13293115	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.949000	0.63596	2.906000	0.99361	0.655000	0.94253	CCT		0.577	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		5	55	0	0	0	1	0	5	55				
PCDHB10	56126	broad.mit.edu	37	5	140573628	140573628	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140573628C>A	ENST00000239446.4	+	1	1687	c.1503C>A	c.(1501-1503)gcC>gcA	p.A501A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCTCGCCTCCCTGGTCT	0.677																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1501-1503)gcC>gcA									94.0	109.0	104.0					5																	140573628		2203	4299	6502	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573628C>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1503C>A	5.37:g.140573628C>A							p.A501A	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1687	+			501			Cadherin 5.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1503C>A	CCDS4252.1																																																																																				0.677	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		92	141	1	0	1.76565e-42	1	1.80786e-42	92	141				
SULF1	23213	broad.mit.edu	37	8	70501299	70501299	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:70501299C>T	ENST00000260128.4	+	8	1374	c.657C>T	c.(655-657)atC>atT	p.I219I	SULF1_ENST00000419716.3_Silent_p.I219I|SULF1_ENST00000402687.4_Silent_p.I219I|SULF1_ENST00000458141.2_Silent_p.I219I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	219					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TGATGGTGATCAGCCACGCTG	0.468																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(655-657)atC>atT		sulfatase 1							90.0	82.0	84.0					8																	70501299		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70501299C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.657C>T	8.37:g.70501299C>T						SULF1_ENST00000419716.3_Silent_p.I219I|SULF1_ENST00000458141.2_Silent_p.I219I|SULF1_ENST00000402687.4_Silent_p.I219I	p.I219I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		8	1374	+	Breast(64;0.0654)		219					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.657C>T	CCDS6204.1																																																																																				0.468	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		20	24	0	0	0	1	0	20	24				
GFRA1	2674	broad.mit.edu	37	10	117884975	117884975	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:117884975G>A	ENST00000355422.6	-	6	1077	c.527C>T	c.(526-528)aCc>aTc	p.T176I	GFRA1_ENST00000439649.3_Missense_Mutation_p.T171I|GFRA1_ENST00000369236.1_Missense_Mutation_p.T171I|GFRA1_ENST00000544592.1_Missense_Mutation_p.T55I	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	176					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGTGCACGGGGTGATGTACGC	0.582																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(511-513)aCc>aTc		GDNF family receptor alpha 1							83.0	69.0	74.0					10																	117884975		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884975G>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.527C>T	10.37:g.117884975G>A	ENSP00000347591:p.Thr176Ile					GFRA1_ENST00000544592.1_Missense_Mutation_p.T55I|GFRA1_ENST00000355422.6_Missense_Mutation_p.T176I|GFRA1_ENST00000369236.1_Missense_Mutation_p.T171I	p.T171I	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	879	-		Lung NSC(174;0.21)	176					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.512C>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899699	0.52227	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.64991	-0.13;-0.13	5.74	5.74	0.90152	GDNF/GAS1 (2);	0.139131	0.64402	D	0.000005	T	0.52773	0.1755	L	0.40543	1.245	0.46061	D	0.99884	P;P	0.43938	0.822;0.588	B;B	0.37198	0.243;0.089	T	0.59032	-0.7530	10	0.59425	D	0.04	-28.2817	14.7248	0.69336	0.0:0.0:0.8553:0.1447	.	176;171	P56159;P56159-2	GFRA1_HUMAN;.	I	176;171;171;55;171	ENSP00000358239:T171I;ENSP00000442179:T55I	ENSP00000347591:T171I	T	-	2	0	GFRA1	117874965	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	1.849000	0.39318	2.712000	0.92718	0.561000	0.74099	ACC		0.582	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		19	36	0	0	0	1	0	19	36				
RAB26	25837	broad.mit.edu	37	16	2201701	2201701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2201701G>A	ENST00000210187.6	+	4	514	c.354G>A	c.(352-354)tgG>tgA	p.W118*	RAB26_ENST00000541451.1_Nonsense_Mutation_p.W52*	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	118					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						TGCAGATGTGGGACACAGCTG	0.632																																						ENST00000210187.6																			0				kidney(1)|large_intestine(1)|lung(3)	5						c.(352-354)tgG>tgA		RAB26, member RAS oncogene family							109.0	91.0	97.0					16																	2201701		2197	4300	6497	SO:0001587	stop_gained	25837				exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	g.chr16:2201701G>A	AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.354G>A	16.37:g.2201701G>A	ENSP00000210187:p.Trp118*					RAB26_ENST00000541451.1_Nonsense_Mutation_p.W52*	p.W118*	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN			4	514	+			118					B2RAA6|Q3L6K5|Q6NXS7	Nonsense_Mutation	SNP	ENST00000210187.6	37	c.354G>A	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534457	0.96460	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	.	.	.	3.93	3.93	0.45458	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7	0.69150	0.0:0.0:1.0:0.0	.	.	.	.	X	52;118	.	ENSP00000210187:W118X	W	+	3	0	RAB26	2141702	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	8.878000	0.92393	2.037000	0.60232	0.305000	0.20034	TGG		0.632	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			18	24	0	0	0	1	0	18	24				
HSPA14	51182	broad.mit.edu	37	10	14909102	14909102	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:14909102T>C	ENST00000378372.3	+	11	1253	c.1014T>C	c.(1012-1014)tcT>tcC	p.S338S		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	338					'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GTGGAGGGTCTTCTCGAATCC	0.383																																						ENST00000378372.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						c.(1012-1014)tcT>tcC		heat shock 70kDa protein 14							102.0	108.0	106.0					10																	14909102		2203	4300	6503	SO:0001819	synonymous_variant	51182				'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	g.chr10:14909102T>C	AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1014T>C	10.37:g.14909102T>C							p.S338S	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN			11	1253	+			338					A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Silent	SNP	ENST00000378372.3	37	c.1014T>C	CCDS7103.1																																																																																				0.383	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046910.1	NM_016299		36	68	0	0	0	1	0	36	68				
A1CF	29974	broad.mit.edu	37	10	52573680	52573680	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:52573680C>T	ENST00000373993.1	-	8	1328	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	A1CF_ENST00000373995.3_Silent_p.G428G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Silent_p.G421G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.2_Silent_p.G420G|A1CF_ENST00000373997.3_Silent_p.G420G|A1CF_ENST00000395495.1_Silent_p.G373G|A1CF_ENST00000282641.2_Silent_p.G428G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	428					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGAGCTCCATCCCAGGTAAAA	0.458																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1261-1263)ggG>ggA		APOBEC1 complementation factor							155.0	155.0	155.0					10																	52573680		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573680C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1284G>A	10.37:g.52573680C>T						A1CF_ENST00000282641.2_Silent_p.G428G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.G420G|A1CF_ENST00000373993.1_Silent_p.G428G|A1CF_ENST00000373995.3_Silent_p.G428G|A1CF_ENST00000395495.1_Silent_p.G373G|A1CF_ENST00000373997.3_Silent_p.G420G|A1CF_ENST00000493415.1_5'UTR	p.G421G	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			12	1659	-			428					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.1263G>A	CCDS7242.1																																																																																				0.458	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		36	61	0	0	0	1	0	36	61				
HMBOX1	79618	broad.mit.edu	37	8	28904909	28904909	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:28904909C>T	ENST00000397358.3	+	9	1673	c.969C>T	c.(967-969)tcC>tcT	p.S323S	HMBOX1_ENST00000355231.5_Silent_p.S323S|HMBOX1_ENST00000444075.1_Silent_p.S323S|HMBOX1_ENST00000558662.1_Silent_p.S323S|HMBOX1_ENST00000519047.1_Silent_p.S323S|HMBOX1_ENST00000523613.1_Silent_p.S323S|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000524238.1_Silent_p.S323S|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000287701.10_Silent_p.S323S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	323					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		GAGTTACCTCCCTGAAAGTAT	0.378																																						ENST00000397358.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11						c.(967-969)tcC>tcT		homeobox containing 1							107.0	106.0	106.0					8																	28904909		2203	4300	6503	SO:0001819	synonymous_variant	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28904909C>T	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.969C>T	8.37:g.28904909C>T						HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.S323S|HMBOX1_ENST00000355231.5_Silent_p.S323S|HMBOX1_ENST00000287701.10_Silent_p.S323S|HMBOX1_ENST00000558662.1_Silent_p.S323S|HMBOX1_ENST00000524238.1_Silent_p.S323S|HMBOX1_ENST00000519047.1_Silent_p.S323S|HMBOX1_ENST00000523613.1_Silent_p.S323S	p.S323S	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	9	1673	+		Ovarian(32;0.0192)	323					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Silent	SNP	ENST00000397358.3	37	c.969C>T	CCDS6071.1																																																																																				0.378	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		23	38	0	0	0	1	0	23	38				
ZNF473	25888	broad.mit.edu	37	19	50548313	50548313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:50548313G>A	ENST00000595661.1	+	6	1108	c.613G>A	c.(613-615)Ggg>Agg	p.G205R	ZNF473_ENST00000391821.2_Missense_Mutation_p.G205R|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G193R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G205R|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	205					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TGTTCAGGAAGGGGAGAAACC	0.463																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(613-615)Ggg>Agg		zinc finger protein 473							76.0	66.0	69.0					19																	50548313		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548313G>A	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.613G>A	19.37:g.50548313G>A	ENSP00000472808:p.Gly205Arg					CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G193R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G205R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G205R|ZNF473_ENST00000601364.1_Intron	p.G205R			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1108	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	205					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.613G>A	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806873	0.70797	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.64618	-0.11;-0.11;-0.11	4.2	1.51	0.23008	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.070460	0.07447	N	0.898375	T	0.49064	0.1535	N	0.19112	0.55	0.09310	N	1	P	0.50272	0.933	P	0.44647	0.456	T	0.38887	-0.9640	10	0.42905	T	0.14	-0.3546	7.7223	0.28740	0.0957:0.259:0.6453:0.0	.	205	Q8WTR7	ZN473_HUMAN	R	205;205;193	ENSP00000270617:G205R;ENSP00000375697:G205R;ENSP00000388961:G193R	ENSP00000270617:G205R	G	+	1	0	ZNF473	55240125	0.012000	0.17670	0.000000	0.03702	0.369000	0.29798	1.730000	0.38125	0.501000	0.28013	0.655000	0.94253	GGG		0.463	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		33	45	0	0	0	1	0	33	45				
PCDHA3	56145	broad.mit.edu	37	5	140183220	140183220	+	Intron	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140183220C>T	ENST00000522353.2	+	1	2394				PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S813L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338																																						ENST00000532566.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(2437-2439)tCa>tTa									34.0	43.0	40.0					5																	140183220		2200	4300	6500	SO:0001627	intron_variant	56145							g.chr5:140183220C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+44C>T	5.37:g.140183220C>T						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.S813L	NM_031497.1	NP_113685.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2438	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2438C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	10.66	1.412841	0.25465	.	.	ENSG00000255408	ENST00000532566	T	0.52754	0.65	4.24	-8.47	0.00939	.	2.083900	0.04149	N	0.321013	T	0.19046	0.0457	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12116	-1.0560	9	.	.	.	.	1.8108	0.03090	0.1537:0.2878:0.0829:0.4756	.	813	Q9Y5H8-2	.	L	813	ENSP00000434086:S813L	.	S	+	2	0	PCDHA3	140163404	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.925000	0.03992	-2.394000	0.00583	0.467000	0.42956	TCA		0.338	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		11	25	0	0	0	1	0	11	25				
DUSP16	80824	broad.mit.edu	37	12	12630841	12630841	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12630841C>T	ENST00000228862.2	-	7	1555	c.924G>A	c.(922-924)aaG>aaA	p.K308K	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	308					dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TGAGTTTGCTCTTTGGCCCTG	0.493																																					Ovarian(158;443 1896 15437 36069 46477)	ENST00000228862.2																			0				endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(922-924)aaG>aaA		dual specificity phosphatase 16							78.0	76.0	76.0					12																	12630841		2203	4300	6503	SO:0001819	synonymous_variant	80824				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:12630841C>T	AB052156	CCDS8650.1	12p13	2011-06-09				ENSG00000111266		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	17909	protein-coding gene	gene with protein product	"""MAPK phosphatase-7"""	607175				11359773, 11489891, 15888437	Standard	NM_030640		Approved	MKP-7, KIAA1700, MKP7	uc001rao.2	Q9BY84		ENST00000228862.2:c.924G>A	12.37:g.12630841C>T						DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	p.K308K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0203)	7	1555	-		Prostate(47;0.0687)	308					Q547C7|Q96QS2|Q9C0G3	Silent	SNP	ENST00000228862.2	37	c.924G>A	CCDS8650.1																																																																																				0.493	DUSP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400311.1	NM_030640		38	85	0	0	0	1	0	38	85				
GUSB	2990	broad.mit.edu	37	7	65441106	65441106	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:65441106C>T	ENST00000304895.4	-	5	938	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.V270M|GUSB_ENST00000421103.1_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	270					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCATTCGCCACGACTTTGTTT	0.517																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(808-810)Gtg>Atg		glucuronidase, beta							85.0	69.0	74.0					7																	65441106		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65441106C>T	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.808G>A	7.37:g.65441106C>T	ENSP00000302728:p.Val270Met					GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.V270M	p.V270M	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			5	938	-			270					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.808G>A	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	9.793	1.178534	0.21787	.	.	ENSG00000169919	ENST00000304895;ENST00000345660	D;D	0.88124	-2.34;-2.34	4.67	3.79	0.43588	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.228496	0.44688	N	0.000424	D	0.86451	0.5936	M	0.84156	2.68	0.52099	D	0.999943	B;B	0.31879	0.344;0.344	B;B	0.26969	0.041;0.075	D	0.86221	0.1631	10	0.72032	D	0.01	.	12.0282	0.53384	0.0:0.9165:0.0:0.0835	.	270;270	B2R6X2;P08236	.;BGLR_HUMAN	M	270	ENSP00000302728:V270M;ENSP00000340734:V270M	ENSP00000302728:V270M	V	-	1	0	GUSB	65078541	0.998000	0.40836	0.737000	0.30932	0.018000	0.09664	3.723000	0.54955	1.184000	0.42957	0.505000	0.49811	GTG		0.517	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		17	60	0	0	0	1	0	17	60				
ZDBF2	57683	broad.mit.edu	37	2	207174284	207174284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:207174284C>T	ENST00000374423.3	+	5	5418	c.5032C>T	c.(5032-5034)Cac>Tac	p.H1678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1678							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCGAACGACTCACCGACTGCA	0.408																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5032-5034)Cac>Tac		zinc finger, DBF-type containing 2							89.0	89.0	89.0					2																	207174284		1886	4107	5993	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174284C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5032C>T	2.37:g.207174284C>T	ENSP00000363545:p.His1678Tyr						p.H1678Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5418	+			1678					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5032C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196541	0.22037	.	.	ENSG00000204186	ENST00000374423	T	0.49720	0.77	3.59	-0.625	0.11548	.	.	.	.	.	T	0.33352	0.0860	L	0.43923	1.385	0.09310	N	1	P	0.45126	0.851	B	0.35688	0.208	T	0.16129	-1.0413	9	0.56958	D	0.05	.	8.3241	0.32147	0.1599:0.2964:0.5436:0.0	.	1678	Q9HCK1	ZDBF2_HUMAN	Y	1678	ENSP00000363545:H1678Y	ENSP00000363545:H1678Y	H	+	1	0	ZDBF2	206882529	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.253000	0.08794	-0.125000	0.11703	0.563000	0.77884	CAC		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		23	9	0	0	0	1	0	23	9				
FLYWCH2	114984	broad.mit.edu	37	16	2946540	2946540	+	Silent	SNP	G	G	A	rs201253084		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:2946540G>A	ENST00000396958.3	+	3	470	c.90G>A	c.(88-90)ccG>ccA	p.P30P	FLYWCH2_ENST00000572006.1_Silent_p.P30P|FLYWCH2_ENST00000293981.6_Silent_p.P30P	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	30							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						AAGTCATCCCGGCAGCCCCCA	0.652													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15996	0.0		0.0	False		,,,				2504	0.0					ENST00000396958.3																			0				central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						c.(88-90)ccG>ccA		FLYWCH family member 2		G	,,	3,4393	6.2+/-15.9	0,3,2195	65.0	78.0	73.0		90,90,90	-8.3	0.0	16		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FLYWCH2	NM_001142499.1,NM_001142500.1,NM_138439.2	,,	0,3,6495	AA,AG,GG		0.0,0.0682,0.0231	,,	30/141,30/141,30/141	2946540	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	114984							g.chr16:2946540G>A	BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.90G>A	16.37:g.2946540G>A						FLYWCH2_ENST00000572006.1_Silent_p.P30P|FLYWCH2_ENST00000293981.6_Silent_p.P30P	p.P30P	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN			3	470	+			30						Silent	SNP	ENST00000396958.3	37	c.90G>A	CCDS10482.1																																																																																				0.652	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250944.1	NM_138439		37	54	0	0	0	1	0	37	54				
SALL3	27164	broad.mit.edu	37	18	76752297	76752297	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:76752297C>T	ENST00000537592.2	+	2	306	c.306C>T	c.(304-306)tcC>tcT	p.S102S	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Silent_p.S102S	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	102					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCAGCTCCCCCAGCGAGC	0.766																																						ENST00000575389.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(304-306)tcC>tcT		spalt-like transcription factor 3							4.0	6.0	6.0					18																	76752297		1591	3350	4941	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752297C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.306C>T	18.37:g.76752297C>T						SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.S102S	p.S102S			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	306	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	102					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.306C>T	CCDS12013.1																																																																																				0.766	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		7	5	0	0	0	1	0	7	5				
CADM1	23705	broad.mit.edu	37	11	115047237	115047237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:115047237C>T	ENST00000452722.3	-	10	1306	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	CADM1_ENST00000537058.1_Missense_Mutation_p.G440E|CADM1_ENST00000542447.2_Missense_Mutation_p.G401E|CADM1_ENST00000331581.6_Missense_Mutation_p.G458E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Missense_Mutation_p.G430E	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTTCTGTCCTCCTTCTGCATT	0.438																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1201-1203)gGa>gAa		cell adhesion molecule 1							300.0	266.0	277.0					11																	115047237		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047237C>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1286G>A	11.37:g.115047237C>T	ENSP00000395359:p.Gly429Glu					CADM1_ENST00000537058.1_Missense_Mutation_p.G440E|CADM1_ENST00000331581.6_Missense_Mutation_p.G458E|CADM1_ENST00000536727.1_Missense_Mutation_p.G430E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.G429E	p.G401E	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	9	1330	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	429						Missense_Mutation	SNP	ENST00000452722.3	37	c.1202G>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797673	0.70567	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	T;T;T;T;T	0.71103	-0.54;0.09;0.39;0.02;0.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.84504	0.0618	10	0.72032	D	0.01	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	440;402;429	F5H0J4;A4FVB5;Q9BY67	.;.;CADM1_HUMAN	E	401;429;440;430;360;458;114	ENSP00000439176:G401E;ENSP00000395359:G429E;ENSP00000439817:G440E;ENSP00000440322:G430E;ENSP00000329797:G458E	ENSP00000329797:G458E	G	-	2	0	CADM1	114552447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.782000	0.95742	0.655000	0.94253	GGA		0.438	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		49	85	0	0	0	1	0	49	85				
FRAS1	80144	broad.mit.edu	37	4	79360167	79360167	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:79360167C>T	ENST00000325942.6	+	40	5918	c.5478C>T	c.(5476-5478)atC>atT	p.I1826I	FRAS1_ENST00000264895.6_Silent_p.I1826I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1826					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						CCATCATGATCACTCCTGCTG	0.398																																						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.(5476-5478)atC>atT		Fraser syndrome 1							237.0	234.0	235.0					4																	79360167		1902	4114	6016	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360167C>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	ENST00000325942.6:c.5478C>T	4.37:g.79360167C>T						FRAS1_ENST00000325942.6_Silent_p.I1826I	p.I1826I	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			40	5918	+			1825					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.5478C>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	5.023	0.189847	0.09547	.	.	ENSG00000138759	ENST00000510944;ENST00000512123	.	.	.	5.92	5.08	0.68730	.	.	.	.	.	T	0.60274	0.2256	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58945	-0.7546	4	.	.	.	.	9.2781	0.37711	0.0:0.7862:0.0:0.2138	.	.	.	.	Y	276;55	.	.	H	+	1	0	FRAS1	79579191	0.998000	0.40836	0.932000	0.37286	0.455000	0.32408	1.900000	0.39828	1.517000	0.48917	0.585000	0.79938	CAC		0.398	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			67	86	0	0	0	1	0	67	86				
HGS	9146	broad.mit.edu	37	17	79655763	79655763	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:79655763G>A	ENST00000329138.4	+	5	456	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	107	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCGTAACAAGATCCTGTACC	0.597																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(319-321)aaG>aaA		hepatocyte growth factor-regulated tyrosine kinase substrate							112.0	80.0	91.0					17																	79655763		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79655763G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.321G>A	17.37:g.79655763G>A							p.K107K	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		5	456	+	all_neural(118;0.0878)|all_lung(278;0.23)		107			VHS.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.321G>A	CCDS11784.1																																																																																				0.597	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		11	18	0	0	0	1	0	11	18				
GALNS	2588	broad.mit.edu	37	16	88908345	88908345	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:88908345G>A	ENST00000268695.5	-	3	367	c.279C>T	c.(277-279)atC>atT	p.I93I	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	93	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		AGCCATTGCGGATGGGTAGCC	0.617																																					GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(277-279)atC>atT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						159.0	115.0	130.0					16																	88908345		2196	4300	6496	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88908345G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.279C>T	16.37:g.88908345G>A						GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron	p.I93I	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	3	367	-			93					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.279C>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479364	0.26511	.	.	ENSG00000141012	ENST00000439266	.	.	.	5.24	3.25	0.37280	.	.	.	.	.	T	0.64494	0.2603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64927	-0.6292	5	0.87932	D	0	.	8.8168	0.35000	0.2381:0.0:0.7619:0.0	.	.	.	.	F	52	.	ENSP00000402127:S52F	S	-	2	0	GALNS	87435846	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	1.360000	0.34125	0.677000	0.31305	-0.254000	0.11334	TCC		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			6	8	0	0	0	1	0	6	8				
MRM1	79922	broad.mit.edu	37	17	34964823	34964823	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:34964823C>T	ENST00000585770.1	+	5	707	c.449C>T	c.(448-450)cCa>cTa	p.P150L	MRM1_ENST00000250156.7_Missense_Mutation_p.P345L					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCTTCAGGCCCAGAGAAAGAG	0.617																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(1033-1035)cCa>cTa		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							109.0	105.0	107.0					17																	34964823		2203	4300	6503	SO:0001583	missense	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964823C>T	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.449C>T	17.37:g.34964823C>T	ENSP00000465317:p.Pro150Leu					MRM1_ENST00000585770.1_Missense_Mutation_p.P150L	p.P345L	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	5	1273	+		Breast(25;0.00957)|Ovarian(249;0.17)	345						Missense_Mutation	SNP	ENST00000585770.1	37	c.1034C>T		.	.	.	.	.	.	.	.	.	.	C	9.422	1.083297	0.20309	.	.	ENSG00000129282	ENST00000250156	T	0.43688	0.94	4.7	-1.22	0.09494	.	1.301920	0.05881	N	0.626500	T	0.21307	0.0513	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	10	0.62326	D	0.03	7.411	3.6173	0.08082	0.2707:0.3882:0.2631:0.0779	.	345	Q6IN84	MRM1_HUMAN	L	345	ENSP00000250156:P345L	ENSP00000250156:P345L	P	+	2	0	MRM1	32038936	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.184000	0.16939	-0.320000	0.08640	-0.300000	0.09419	CCA		0.617	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864		29	70	0	0	0	1	0	29	70				
DICER1	23405	broad.mit.edu	37	14	95562407	95562407	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:95562407A>T	ENST00000526495.1	-	25	5141	c.4850T>A	c.(4849-4851)cTt>cAt	p.L1617H	DICER1_ENST00000541352.1_Missense_Mutation_p.L1617H|DICER1_ENST00000556045.1_Missense_Mutation_p.L515H|DICER1_ENST00000527414.1_Missense_Mutation_p.L1617H|DICER1_ENST00000393063.1_Missense_Mutation_p.L1617H|DICER1_ENST00000343455.3_Missense_Mutation_p.L1617H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1617					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTCACTGAAAGGTTCTTTTG	0.473			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(4849-4851)cTt>cAt		dicer 1, ribonuclease type III							213.0	219.0	217.0					14																	95562407		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562407A>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4850T>A	14.37:g.95562407A>T	ENSP00000437256:p.Leu1617His					DICER1_ENST00000343455.3_Missense_Mutation_p.L1617H|DICER1_ENST00000527414.1_Missense_Mutation_p.L1617H|DICER1_ENST00000393063.1_Missense_Mutation_p.L1617H|DICER1_ENST00000541352.1_Missense_Mutation_p.L1617H|DICER1_ENST00000556045.1_Missense_Mutation_p.L515H	p.L1617H			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5141	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1617					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4850T>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.651586	0.29336	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.87334	0.29;0.29;0.29;0.29;-2.24;0.63	5.49	1.79	0.24919	.	0.421653	0.24347	N	0.039308	T	0.81250	0.4783	L	0.47716	1.5	0.26772	N	0.969773	P;P;B	0.41265	0.744;0.612;0.145	B;B;B	0.40101	0.235;0.319;0.159	T	0.71328	-0.4626	10	0.44086	T	0.13	-2.4654	8.4059	0.32614	0.707:0.0:0.293:0.0	.	515;1617;1617	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	H	1617;1617;1617;1617;515;1617	ENSP00000343745:L1617H;ENSP00000437256:L1617H;ENSP00000376783:L1617H;ENSP00000435681:L1617H;ENSP00000451041:L515H;ENSP00000444719:L1617H	ENSP00000343745:L1617H	L	-	2	0	DICER1	94632160	0.370000	0.25047	0.806000	0.32338	0.996000	0.88848	0.254000	0.18314	0.061000	0.16311	0.459000	0.35465	CTT		0.473	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			127	194	0	0	0	1	0	127	194				
ZNF224	7767	broad.mit.edu	37	19	44605296	44605296	+	Silent	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:44605296A>C	ENST00000336976.6	+	5	407	c.153A>C	c.(151-153)gcA>gcC	p.A51A	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GACATCAAGCATTCCACAGGG	0.398																																						ENST00000336976.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(151-153)gcA>gcC		zinc finger protein 224							126.0	117.0	120.0					19																	44605296		2203	4300	6503	SO:0001819	synonymous_variant	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44605296A>C	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.153A>C	19.37:g.44605296A>C							p.A51A	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			5	407	+		Prostate(69;0.0435)	51			KRAB.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	c.153A>C	CCDS33046.1																																																																																				0.398	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		30	35	0	0	0	1	0	30	35				
COL6A1	1291	broad.mit.edu	37	21	47422152	47422152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47422152G>A	ENST00000361866.3	+	32	2201	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	696	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCTGCAGTGGATGGCGGGC	0.697																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2086-2088)tGg>tAg		collagen, type VI, alpha 1	Palifermin(DB00039)						11.0	11.0	11.0					21																	47422152		2165	4260	6425	SO:0001587	stop_gained	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422152G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2087G>A	21.37:g.47422152G>A	ENSP00000355180:p.Trp696*					COL6A1_ENST00000498614.1_3'UTR	p.W696*	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2201	+	all_hematologic(128;0.24)		696			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Nonsense_Mutation	SNP	ENST00000361866.3	37	c.2087G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	39	7.307080	0.98200	.	.	ENSG00000142156	ENST00000361866	.	.	.	4.45	4.45	0.53987	.	0.178204	0.41097	U	0.000956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5251	17.071	0.86573	0.0:0.0:1.0:0.0	.	.	.	.	X	696	.	ENSP00000355180:W696X	W	+	2	0	COL6A1	46246580	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	8.838000	0.92115	2.029000	0.59856	0.462000	0.41574	TGG		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		5	3	0	0	0	1	0	5	3				
ELOVL1	64834	broad.mit.edu	37	1	43830433	43830433	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:43830433G>A	ENST00000372458.3	-	5	468	c.351C>T	c.(349-351)tcC>tcT	p.S117S	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S90S	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	117					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAATGAACTTGGAGAAGAGGA	0.498																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(349-351)tcC>tcT		ELOVL fatty acid elongase 1							112.0	123.0	119.0					1																	43830433		2203	4300	6503	SO:0001819	synonymous_variant	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830433G>A	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.351C>T	1.37:g.43830433G>A						ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S90S	p.S117S	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			5	468	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	117					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Silent	SNP	ENST00000372458.3	37	c.351C>T	CCDS485.1																																																																																				0.498	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		38	42	0	0	0	1	0	38	42				
IL1RN	3557	broad.mit.edu	37	2	113885246	113885246	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:113885246C>T	ENST00000409930.3	+	1	109	c.45C>T	c.(43-45)ctC>ctT	p.L15L	IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000354115.2_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	15					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	TCACTCTCCTCCTCTTCCTGT	0.537									Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000409930.3																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10						c.(43-45)ctC>ctT		interleukin 1 receptor antagonist	Anakinra(DB00026)						79.0	77.0	78.0					2																	113885246		2203	4300	6503	SO:0001819	synonymous_variant	3557	Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Lichen Sclerosis, Familial	immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113885246C>T	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	6000	protein-coding gene	gene with protein product	"""interleukin-1 receptor antagonist protein"", ""intracellular interleukin-1 receptor antagonist"""	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.45C>T	2.37:g.113885246C>T						IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000354115.2_Intron	p.L15L	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN			1	109	+			15					A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Silent	SNP	ENST00000409930.3	37	c.45C>T	CCDS46396.1																																																																																				0.537	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330802.1	NM_173841		20	33	0	0	0	1	0	20	33				
PKHD1	5314	broad.mit.edu	37	6	51524373	51524373	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:51524373G>A	ENST00000371117.3	-	61	10826	c.10551C>T	c.(10549-10551)ccC>ccT	p.P3517P		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3517					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAACCAGAGTGGGTGGAATAA	0.443																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10549-10551)ccC>ccT		polycystic kidney and hepatic disease 1 (autosomal recessive)							72.0	70.0	71.0					6																	51524373		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524373G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10551C>T	6.37:g.51524373G>A							p.P3517P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	10826	-	Lung NSC(77;0.0605)		3517					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10551C>T	CCDS4935.1																																																																																				0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	26	0	0	0	1	0	14	26				
CCL24	6369	broad.mit.edu	37	7	75442721	75442721	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:75442721G>A	ENST00000416943.1	-	3	187	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S	CCL24_ENST00000222902.2_Missense_Mutation_p.P32S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	32					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3						ATGCAGCAGGGAGAGGGGATG	0.557																																						ENST00000416943.1																			0				endometrium(1)|lung(2)	3						c.(94-96)Ccc>Tcc		chemokine (C-C motif) ligand 24							69.0	71.0	71.0					7																	75442721		2203	4300	6503	SO:0001583	missense	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75442721G>A	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.94C>T	7.37:g.75442721G>A	ENSP00000400533:p.Pro32Ser					CCL24_ENST00000222902.2_Missense_Mutation_p.P32S	p.P32S	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN			3	187	-			32					B2R5K2	Missense_Mutation	SNP	ENST00000416943.1	37	c.94C>T	CCDS34670.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.870472	0.00542	.	.	ENSG00000106178	ENST00000222902;ENST00000416943	T;T	0.03524	3.9;3.9	3.61	-6.58	0.01836	Chemokine interleukin-8-like domain (3);	0.440546	0.19552	N	0.111543	T	0.00608	0.0020	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	10	0.07175	T	0.84	.	0.575	0.00702	0.2307:0.1457:0.1947:0.4289	.	32	O00175	CCL24_HUMAN	S	32	ENSP00000222902:P32S;ENSP00000400533:P32S	ENSP00000222902:P32S	P	-	1	0	CCL24	75280657	0.434000	0.25570	0.004000	0.12327	0.007000	0.05969	0.435000	0.21510	-1.245000	0.02513	-2.563000	0.00173	CCC		0.557	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		23	67	0	0	0	1	0	23	67				
EPPK1	83481	broad.mit.edu	37	8	144942786	144942786	+	Missense_Mutation	SNP	C	C	T	rs191532254	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144942786C>T	ENST00000525985.1	-	2	4707	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K				P58107	EPIPL_HUMAN	epiplakin 1	1546						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTCAGCTCGTCCAGCGTC	0.632													C|||	3	0.000599042	0.0008	0.0	5008	,	,		20512	0.0		0.0	False		,,,				2504	0.002					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4636-4638)Gag>Aag		epiplakin 1							22.0	24.0	24.0					8																	144942786		2085	4211	6296	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942786C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4636G>A	8.37:g.144942786C>T	ENSP00000436337:p.Glu1546Lys						p.E1546K			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4707	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1546					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4636G>A		3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	7.651	0.682864	0.14907	.	.	ENSG00000227184	ENST00000525985	T	0.66638	-0.22	4.41	4.41	0.53225	.	.	.	.	.	T	0.40398	0.1115	N	0.05280	-0.08	0.21386	N	0.999705	D	0.71674	0.998	P	0.48368	0.575	T	0.28522	-1.0041	9	0.06625	T	0.88	.	14.5607	0.68133	0.0:1.0:0.0:0.0	.	1546	E9PPU0	.	K	1546	ENSP00000436337:E1546K	ENSP00000436337:E1546K	E	-	1	0	EPPK1	145014774	0.000000	0.05858	0.087000	0.20705	0.056000	0.15407	0.050000	0.14120	2.280000	0.76307	0.591000	0.81541	GAG		0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	6	0	0	0	1	0	5	6				
AUTS2	26053	broad.mit.edu	37	7	70249984	70249984	+	Missense_Mutation	SNP	C	C	T	rs34479874		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:70249984C>T	ENST00000342771.4	+	16	2524	c.2203C>T	c.(2203-2205)Ctc>Ttc	p.L735F	AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	735										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAGCAACTTCCTCAACCCTGC	0.517																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(2203-2205)Ctc>Ttc		autism susceptibility candidate 2							107.0	91.0	97.0					7																	70249984		2203	4300	6503	SO:0001583	missense	26053							g.chr7:70249984C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2203C>T	7.37:g.70249984C>T	ENSP00000344087:p.Leu735Phe					AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F	p.L735F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	16	2524	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	735					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2203C>T	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294758	0.95546	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.53206	0.67;0.63	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.66913	-0.5803	9	.	.	.	-27.5929	20.3732	0.98896	0.0:1.0:0.0:0.0	.	187;711;735	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	F	711;735	ENSP00000385263:L711F;ENSP00000344087:L735F	.	L	+	1	0	AUTS2	69887920	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	6.986000	0.76200	2.809000	0.96659	0.650000	0.86243	CTC		0.517	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			39	40	0	0	0	1	0	39	40				
ZNF766	90321	broad.mit.edu	37	19	52794329	52794329	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:52794329C>T	ENST00000439461.1	+	4	1328	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.H444Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.H444Y|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CCTTGCAAATCATCAGAGAAT	0.413																																						ENST00000439461.1																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(1285-1287)Cat>Tat		zinc finger protein 766							98.0	102.0	101.0					19																	52794329		2203	4300	6503	SO:0001583	missense	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52794329C>T	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1285C>T	19.37:g.52794329C>T	ENSP00000409652:p.His429Tyr					CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Missense_Mutation_p.H444Y|ZNF766_ENST00000593612.1_Missense_Mutation_p.H444Y|ZNF766_ENST00000599581.1_3'UTR	p.H429Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	1328	+			429					B2RNE0|Q7Z326	Missense_Mutation	SNP	ENST00000439461.1	37	c.1285C>T	CCDS46163.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023950	0.54683	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	D;D	0.86769	-2.17;-2.17	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94361	0.8187	M	0.94021	3.485	0.32428	N	0.54837	D;D	0.89917	1.0;1.0	D;D	0.78314	0.94;0.991	D	0.94193	0.7443	9	0.87932	D	0	.	11.7007	0.51569	0.0:1.0:0.0:0.0	.	444;429	G3XAE0;Q5HY98	.;ZN766_HUMAN	Y	429;444	ENSP00000409652:H429Y;ENSP00000352005:H444Y	ENSP00000352005:H444Y	H	+	1	0	ZNF766	57486141	1.000000	0.71417	0.005000	0.12908	0.003000	0.03518	6.291000	0.72719	1.280000	0.44463	0.603000	0.83216	CAT		0.413	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		30	48	0	0	0	1	0	30	48				
CXorf22	170063	broad.mit.edu	37	X	35994002	35994002	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:35994002G>A	ENST00000297866.5	+	15	2751	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	895										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAGGAAGAGGGATAGCATTTT	0.333																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2683-2685)ggG>ggA		chromosome X open reading frame 22							141.0	129.0	133.0					X																	35994002		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35994002G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2685G>A	X.37:g.35994002G>A							p.G895G	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			15	2751	+			895					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.2685G>A	CCDS14237.2																																																																																				0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		74	129	0	0	0	1	0	74	129				
ATRX	546	broad.mit.edu	37	X	76889054	76889054	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:76889054C>T	ENST00000373344.5	-	18	5170	c.4956G>A	c.(4954-4956)gaG>gaA	p.E1652E	ATRX_ENST00000395603.3_Splice_Site_p.E1614E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1652	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATAAGTTACCTCAAGCTTCT	0.279			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e18+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						39.0	39.0	39.0					X																	76889054		2202	4292	6494	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889054C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4956+1G>A	X.37:g.76889054C>T						ATRX_ENST00000395603.3_Splice_Site_p.E1614_splice|ATRX_ENST00000480283.1_5'UTR	p.E1652_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5170	-			1652			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	c.4956_splice	CCDS14434.1																																																																																				0.279	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Silent	34	58	0	0	0	1	0	34	58				
NPHP4	261734	broad.mit.edu	37	1	6007209	6007209	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6007209G>A	ENST00000378156.4	-	9	1339	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	358					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAGCTGGAAGATGACCG	0.572																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(1072-1074)ttC>ttT		nephronophthisis 4							84.0	87.0	86.0					1																	6007209		2091	4205	6296	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6007209G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1074C>T	1.37:g.6007209G>A						NPHP4_ENST00000478423.2_5'UTR	p.F358F	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	9	1339	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	358					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.1074C>T	CCDS44052.1																																																																																				0.572	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			27	26	0	0	0	1	0	27	26				
PPP1R13L	10848	broad.mit.edu	37	19	45885896	45885896	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45885896G>A	ENST00000418234.2	-	12	2415	c.2337C>T	c.(2335-2337)ttC>ttT	p.F779F	PPP1R13L_ENST00000360957.5_Silent_p.F779F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	779	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCCCTCGCGGAAGGACAGCT	0.682																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2335-2337)ttC>ttT		protein phosphatase 1, regulatory subunit 13 like							55.0	46.0	49.0					19																	45885896		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885896G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2337C>T	19.37:g.45885896G>A						PPP1R13L_ENST00000360957.5_Silent_p.F779F	p.F779F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2415	-		all_neural(266;0.224)|Ovarian(192;0.231)	779			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2337C>T	CCDS33050.1																																																																																				0.682	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		24	30	0	0	0	1	0	24	30				
CFAP221	200373	broad.mit.edu	37	2	120395869	120395869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:120395869C>T	ENST00000413369.3	+	20	2096	c.2009C>T	c.(2008-2010)cCt>cTt	p.P670L	PCDP1_ENST00000602047.1_Missense_Mutation_p.P384L	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GTAATGCATCCTCTGACCTAT	0.463																																						ENST00000602047.1																			0											c.(1150-1152)cCt>cTt									159.0	157.0	158.0					2																	120395869		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120395869C>T																												ENST00000413369.3:c.2009C>T	2.37:g.120395869C>T	ENSP00000393222:p.Pro670Leu					PCDP1_ENST00000413369.3_Missense_Mutation_p.P670L	p.P384L			Q4G0U5	PCDP1_HUMAN			21	2263	+	Colorectal(110;0.196)		670						Missense_Mutation	SNP	ENST00000413369.3	37	c.1151C>T	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.60|17.60	3.429469|3.429469	0.62844|0.62844	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972|ENST00000295220;ENST00000413369	.|T	.|0.37752	.|1.18	5.4|5.4	3.53|3.53	0.40419|0.40419	.|.	.|0.408592	.|0.22902	.|N	.|0.054248	T|T	0.46678|0.46678	0.1405|0.1405	L|L	0.49778|0.49778	1.585|1.585	0.45634|0.45634	D|D	0.998567|0.998567	.|D	.|0.71674	.|0.998	.|D	.|0.68621	.|0.959	T|T	0.42464|0.42464	-0.9450|-0.9450	5|10	.|0.87932	.|D	.|0	-15.4362|-15.4362	6.0063|6.0063	0.19549|0.19549	0.1888:0.7177:0.0:0.0935|0.1888:0.7177:0.0:0.0935	.|.	.|670	.|Q4G0U5	.|PCDP1_HUMAN	F|L	229|384;670	.|ENSP00000393222:P670L	.|ENSP00000295220:P384L	L|P	+|+	1|2	0|0	AC069154.2|AC069154.2	120112339|120112339	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.795000|0.795000	0.44927|0.44927	1.885000|1.885000	0.39678|0.39678	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.463	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			68	114	0	0	0	1	0	68	114				
L1CAM	3897	broad.mit.edu	37	X	153130378	153130378	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153130378C>T	ENST00000370060.1	-	23	3133	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	L1CAM_ENST00000370055.1_Missense_Mutation_p.D977N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D982N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D984N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D984N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D982N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D977N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	982	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGAGATCGGTCAGGTTG	0.622																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2944-2946)Gat>Aat		L1 cell adhesion molecule							152.0	132.0	139.0					X																	153130378		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153130378C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2944G>A	X.37:g.153130378C>T	ENSP00000359077:p.Asp982Asn					L1CAM_ENST00000370055.1_Missense_Mutation_p.D977N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D984N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D977N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D984N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D982N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D982N	p.D982N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			23	3133	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		982			Fibronectin type-III 4.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2944G>A	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	1.538	-0.542506	0.04053	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.17	1.06	0.20224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.304446	0.26742	N	0.022728	T	0.23054	0.0557	N	0.10707	0.03	0.19945	N	0.99994	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.28267	-1.0049	10	0.02654	T	1	.	7.8909	0.29677	0.0:0.3361:0.0:0.6639	.	977;982;982	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	N	982;984;982;984;977;977;982	ENSP00000359077:D982N;ENSP00000438430:D984N;ENSP00000359074:D982N;ENSP00000439645:D984N;ENSP00000354712:D977N;ENSP00000359072:D977N;ENSP00000355380:D982N	ENSP00000355380:D982N	D	-	1	0	L1CAM	152783572	1.000000	0.71417	0.974000	0.42286	0.412000	0.31113	0.763000	0.26517	0.186000	0.20125	-0.395000	0.06472	GAT		0.622	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		110	143	0	0	0	1	0	110	143				
APOBR	55911	broad.mit.edu	37	16	28508178	28508178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:28508178C>T	ENST00000431282.1	+	3	1799	c.1789C>T	c.(1789-1791)Ccc>Tcc	p.P597S	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.P606S|APOBR_ENST00000328423.5_Missense_Mutation_p.P597S|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	597	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGAGGCAGGTCCCAGGCACGC	0.612																																						ENST00000564831.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						c.(1816-1818)Ccc>Tcc		apolipoprotein B receptor							6.0	7.0	7.0					16																	28508178		1966	4094	6060	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28508178C>T	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1789C>T	16.37:g.28508178C>T	ENSP00000416094:p.Pro597Ser					APOBR_ENST00000328423.5_Missense_Mutation_p.P597S|APOBR_ENST00000431282.1_Missense_Mutation_p.P597S	p.P606S	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN			2	1849	+			597			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1816C>T		.	.	.	.	.	.	.	.	.	.	C	10.62	1.402708	0.25291	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	D;D	0.84442	-1.85;-1.85	4.67	-1.32	0.09201	.	.	.	.	.	T	0.71829	0.3386	L	0.34521	1.04	0.09310	N	1	B;B	0.33044	0.395;0.22	B;B	0.29353	0.101;0.042	T	0.60203	-0.7309	9	0.56958	D	0.05	0.9787	3.2048	0.06662	0.3108:0.4137:0.0:0.2756	.	597;597	Q0VD83;Q9NS13	APOBR_HUMAN;.	S	597	ENSP00000327669:P597S;ENSP00000416094:P597S	ENSP00000327669:P597S	P	+	1	0	APOBR	28415679	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.412000	0.07519	0.461000	0.40582	CCC		0.612	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	1	0	0	0	1	0	3	1				
BCAN	63827	broad.mit.edu	37	1	156621425	156621425	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:156621425G>A	ENST00000329117.5	+	7	1577	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G414E	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	414	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGGAGGACGGAGGAGGTGGA	0.562																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1240-1242)gGa>gAa		brevican							90.0	89.0	89.0					1																	156621425		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156621425G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1241G>A	1.37:g.156621425G>A	ENSP00000331210:p.Gly414Glu					BCAN_ENST00000361588.5_Missense_Mutation_p.G414E|RP11-284F21.7_ENST00000448869.1_RNA	p.G414E	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			7	1577	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		414			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1241G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885280	0.17540	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.13089	2.62;3.32	5.17	2.17	0.27698	.	0.664572	0.13614	N	0.374887	T	0.01661	0.0053	L	0.27053	0.805	0.09310	N	0.999999	B;P	0.35272	0.361;0.493	B;B	0.33620	0.075;0.167	T	0.39603	-0.9606	10	0.05525	T	0.97	-4.6526	2.5543	0.04756	0.1483:0.2825:0.4239:0.1453	.	414;414	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	E	353;414;414	ENSP00000331210:G414E;ENSP00000354925:G414E	ENSP00000255029:G353E	G	+	2	0	BCAN	154888049	0.010000	0.17322	0.783000	0.31826	0.984000	0.73092	0.796000	0.26986	0.731000	0.32448	0.655000	0.94253	GGA		0.562	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		41	57	0	0	0	1	0	41	57				
EP400	57634	broad.mit.edu	37	12	132549426	132549426	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:132549426C>T	ENST00000333577.4	+	49	8765	c.8656C>T	c.(8656-8658)Cgg>Tgg	p.R2886W	EP400_ENST00000389561.2_Missense_Mutation_p.R2850W|EP400_ENST00000389562.2_Missense_Mutation_p.R2849W|EP400_ENST00000332482.4_Missense_Mutation_p.R2813W|EP400_ENST00000330386.6_Missense_Mutation_p.R2769W			Q96L91	EP400_HUMAN	E1A binding protein p400	2886					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGTGGCCCGGCTCGTAAG	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8656-8658)Cgg>Tgg		E1A binding protein p400							11.0	17.0	15.0					12																	132549426		2173	4282	6455	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132549426C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8656C>T	12.37:g.132549426C>T	ENSP00000333602:p.Arg2886Trp					EP400_ENST00000389561.2_Missense_Mutation_p.R2850W|EP400_ENST00000330386.6_Missense_Mutation_p.R2769W|EP400_ENST00000389562.2_Missense_Mutation_p.R2849W|EP400_ENST00000332482.4_Missense_Mutation_p.R2813W	p.R2886W			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	49	8765	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2886					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.8656C>T		.	.	.	.	.	.	.	.	.	.	C	15.00	2.703647	0.48412	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.95412	-3.7;-3.69;-3.55;-3.6;-3.6	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	L	0.34521	1.04	0.35170	D	0.771484	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.999;0.999;0.999	D	0.99915	1.1222	10	0.87932	D	0	.	17.8679	0.88801	0.0:1.0:0.0:0.0	.	2886;2850;2769;2849	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	W	2886;2850;2849;2813;2769;2850	ENSP00000333602:R2886W;ENSP00000374212:R2850W;ENSP00000374213:R2849W;ENSP00000331737:R2813W;ENSP00000330620:R2769W	ENSP00000330620:R2769W	R	+	1	2	EP400	131115379	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.885000	0.48570	2.331000	0.79229	0.555000	0.69702	CGG		0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	18	0	0	0	1	0	6	18				
CHIT1	1118	broad.mit.edu	37	1	203194943	203194943	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:203194943C>T	ENST00000367229.1	-	3	145	c.111G>A	c.(109-111)ggG>ggA	p.G37G	CHIT1_ENST00000535569.1_Silent_p.G47G|CHIT1_ENST00000255427.3_Silent_p.G37G|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	37					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCGAGCCTCCCCCTGTCTGT	0.582																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(109-111)ggG>ggA		chitinase 1 (chitotriosidase)							109.0	99.0	103.0					1																	203194943		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194943C>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.111G>A	1.37:g.203194943C>T						CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.G47G|CHIT1_ENST00000255427.3_Silent_p.G37G	p.G37G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			3	145	-			37					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.111G>A	CCDS1436.1																																																																																				0.582	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		15	21	0	0	0	1	0	15	21				
ST8SIA3	51046	broad.mit.edu	37	18	55020183	55020183	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:55020183G>A	ENST00000324000.3	+	1	2140	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	36					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCTGAAAAAGGAGAACATCTT	0.592																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(106-108)Gag>Aag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							79.0	78.0	78.0					18																	55020183		2203	4300	6503	SO:0001583	missense	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020183G>A	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.106G>A	18.37:g.55020183G>A	ENSP00000320431:p.Glu36Lys						p.E36K	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	2140	+			36					A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	ENST00000324000.3	37	c.106G>A	CCDS32834.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385842	0.82792	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.47869	0.83	4.55	4.55	0.56014	.	0.104988	0.64402	D	0.000005	T	0.32882	0.0844	N	0.22421	0.69	0.58432	D	0.999993	B	0.26635	0.155	B	0.18871	0.023	T	0.10730	-1.0617	10	0.17832	T	0.49	.	16.1123	0.81271	0.0:0.0:1.0:0.0	.	36	O43173	SIA8C_HUMAN	K	143;36	ENSP00000320431:E36K	ENSP00000320431:E36K	E	+	1	0	ST8SIA3	53171181	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.500000	0.90498	2.088000	0.63022	0.491000	0.48974	GAG		0.592	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		29	51	0	0	0	1	0	29	51				
EPHA3	2042	broad.mit.edu	37	3	89390208	89390208	+	Silent	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:89390208C>A	ENST00000336596.2	+	4	1182	c.957C>A	c.(955-957)tcC>tcA	p.S319S	EPHA3_ENST00000452448.2_Silent_p.S319S|EPHA3_ENST00000494014.1_Silent_p.S319S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	319	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCTCCATCCATGGCTTGTA	0.438										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(955-957)tcC>tcA		EPH receptor A3							149.0	149.0	149.0					3																	89390208		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390208C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.957C>A	3.37:g.89390208C>A		TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Silent_p.S319S|EPHA3_ENST00000494014.1_Silent_p.S319S	p.S319S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1182	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	319			Cys-rich.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.957C>A	CCDS2922.1																																																																																				0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		36	69	1	0	2.51541e-25	1	2.57239e-25	36	69				
WIZ	58525	broad.mit.edu	37	19	15535767	15535767	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15535767G>A	ENST00000389282.4	-	8	4470	c.4257C>T	c.(4255-4257)caC>caT	p.H1419H	WIZ_ENST00000599910.2_Silent_p.H736H|WIZ_ENST00000545156.1_Silent_p.H733H|WIZ_ENST00000263381.7_Silent_p.H562H|WIZ_ENST00000599686.3_Silent_p.H603H			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1419					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTGCCGCAGGTGTGCCCGTG	0.667																																						ENST00000389282.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(4255-4257)caC>caT		widely interspaced zinc finger motifs							11.0	13.0	12.0					19																	15535767		2055	4195	6250	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15535767G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4257C>T	19.37:g.15535767G>A						WIZ_ENST00000545156.1_Silent_p.H733H|WIZ_ENST00000263381.6_Silent_p.H562H|WIZ_ENST00000599910.1_Silent_p.H736H|WIZ_ENST00000599686.2_Silent_p.H603H	p.H1419H			O95785	WIZ_HUMAN			8	4470	-			1419					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.4257C>T																																																																																					0.667	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		7	6	0	0	0	1	0	7	6				
AFF2	2334	broad.mit.edu	37	X	147744217	147744217	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:147744217C>T	ENST00000370460.2	+	3	1448	c.969C>T	c.(967-969)ctC>ctT	p.L323L	AFF2_ENST00000342251.3_Silent_p.L319L|AFF2_ENST00000370457.5_Silent_p.L319L|AFF2_ENST00000370458.1_Silent_p.L319L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	323					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGAACACTCTTGGATGGAA	0.433																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(967-969)ctC>ctT		AF4/FMR2 family, member 2							58.0	53.0	54.0					X																	147744217		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744217C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.969C>T	X.37:g.147744217C>T						AFF2_ENST00000370458.1_Silent_p.L319L|AFF2_ENST00000342251.3_Silent_p.L319L|AFF2_ENST00000370457.5_Silent_p.L319L	p.L323L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1448	+	Acute lymphoblastic leukemia(192;6.56e-05)		323					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.969C>T	CCDS14684.1																																																																																				0.433	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		55	50	0	0	0	1	0	55	50				
TGFBR1	7046	broad.mit.edu	37	9	101900209	101900209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:101900209C>T	ENST00000374994.4	+	4	760	c.643C>T	c.(643-645)Cga>Tga	p.R215*	TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R138*|TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R219*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R146*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TGGCAAAGGTCGATTTGGAGA	0.408																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(643-645)Cga>Tga		transforming growth factor, beta receptor 1							150.0	148.0	148.0					9																	101900209		2203	4300	6503	SO:0001587	stop_gained	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900209C>T		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.643C>T	9.37:g.101900209C>T	ENSP00000364133:p.Arg215*					TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R219*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R146*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R138*	p.R215*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			4	760	+		Acute lymphoblastic leukemia(62;0.0559)	215			Protein kinase.		Q6IR47|Q706C0|Q706C1	Nonsense_Mutation	SNP	ENST00000374994.4	37	c.643C>T	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356380	0.82243	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	.	.	.	5.59	3.7	0.42460	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7466	0.62879	0.281:0.719:0.0:0.0	.	.	.	.	X	215;215;138;219;69;146	.	.	R	+	1	2	TGFBR1	100940030	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	4.837000	0.62796	0.686000	0.31488	-0.188000	0.12872	CGA		0.408	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			30	10	0	0	0	1	0	30	10				
PEAK1	79834	broad.mit.edu	37	15	77473953	77473953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:77473953G>A	ENST00000560626.2	-	4	791	c.316C>T	c.(316-318)Cga>Tga	p.R106*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R106*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R106*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	106					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCTCTGTTTCGGTTCCACCCT	0.423																																						ENST00000560626.2																			0											c.(316-318)Cga>Tga		pseudopodium-enriched atypical kinase 1							209.0	202.0	204.0					15																	77473953		1944	4140	6084	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473953G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.316C>T	15.37:g.77473953G>A	ENSP00000452796:p.Arg106*					PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R106*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R106*	p.R106*			Q9H792	PEAK1_HUMAN			4	791	-			106					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.316C>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	G	37	6.083111	0.97267	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.76	5.76	0.90799	.	0.201361	0.17461	U	0.173455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7838	19.9664	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000309230:R106X	R	-	1	2	AC087465.1	75261008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.379000	0.79691	2.724000	0.93272	0.650000	0.86243	CGA		0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			59	88	0	0	0	1	0	59	88				
C1orf110	339512	broad.mit.edu	37	1	162824805	162824805	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:162824805C>T	ENST00000367910.1	-	4	779	c.659G>A	c.(658-660)gGg>gAg	p.G220E	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	220										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TCCAGTGTTCCCATCTGGCTT	0.463																																						ENST00000367910.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(658-660)gGg>gAg		chromosome 1 open reading frame 110							165.0	153.0	157.0					1																	162824805		1954	4164	6118	SO:0001583	missense	339512							g.chr1:162824805C>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.659G>A	1.37:g.162824805C>T	ENSP00000356886:p.Gly220Glu					C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron	p.G220E	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN			4	779	-			220					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.659G>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237789	0.22711	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.09	-2.7	0.06004	.	1.631300	0.03254	N	0.182241	T	0.06872	0.0175	L	0.27053	0.805	0.30482	N	0.77224	B	0.09022	0.002	B	0.10450	0.005	T	0.14839	-1.0458	8	0.23891	T	0.37	2.7745	1.0019	0.01479	0.1486:0.3526:0.1624:0.3364	.	220	Q86UF4	CA110_HUMAN	E	220	.	ENSP00000356886:G220E	G	-	2	0	C1orf110	161091429	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.345000	0.02637	-0.556000	0.06134	-0.140000	0.14226	GGG		0.463	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		40	36	0	0	0	1	0	40	36				
RIMS2	9699	broad.mit.edu	37	8	105257206	105257206	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:105257206G>A	ENST00000436393.2	+	24	3692	c.3451G>A	c.(3451-3453)Gaa>Aaa	p.E1151K	RIMS2_ENST00000339750.2_Missense_Mutation_p.E69K|RIMS2_ENST00000507740.1_Missense_Mutation_p.E947K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E972K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1195					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGCCGTGGAAATGAGGAA	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2839-2841)Gaa>Aaa		regulating synaptic membrane exocytosis 2							130.0	136.0	134.0					8																	105257206		2024	4188	6212	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257206G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3451G>A	8.37:g.105257206G>A	ENSP00000390665:p.Glu1151Lys	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.E1151K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E972K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E69K	p.E947K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	3075	+			1195					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2839G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.864988	0.91511	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.23950	2.47;2.18;2.22;2.08;2.57;1.9;1.88	5.05	5.05	0.67936	.	.	.	.	.	T	0.47600	0.1454	L	0.58510	1.815	0.80722	D	1	D;D;P;P;P	0.58268	0.982;0.982;0.917;0.928;0.928	D;D;D;P;P	0.67548	0.952;0.952;0.915;0.632;0.632	T	0.29458	-1.0011	9	0.41790	T	0.15	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1195;1151;972;947;1133	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	K	1170;1133;1195;972;947;1140;1151;69;69	ENSP00000384892:E1133K;ENSP00000262231:E972K;ENSP00000423559:E947K;ENSP00000386228:E1140K;ENSP00000390665:E1151K;ENSP00000428478:E69K;ENSP00000342051:E69K	ENSP00000262231:E972K	E	+	1	0	RIMS2	105326382	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.860000	0.86993	2.623000	0.88846	0.650000	0.86243	GAA		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		51	86	0	0	0	1	0	51	86				
GATA5	140628	broad.mit.edu	37	20	61039979	61039979	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:61039979A>G	ENST00000252997.2	-	7	1168	c.1107T>C	c.(1105-1107)ttT>ttC	p.F369F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	369					blood coagulation (GO:0007596)|cellular response to BMP stimulus (GO:0071773)|intestinal epithelial cell differentiation (GO:0060575)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			AGGGGAAGGCAAAGTCCTCAG	0.672																																						ENST00000252997.2																			0				kidney(1)|lung(3)|ovary(1)|stomach(1)	6						c.(1105-1107)ttT>ttC		GATA binding protein 5							31.0	33.0	32.0					20																	61039979		2203	4300	6503	SO:0001819	synonymous_variant	140628				blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:61039979A>G	BC047790, BC117356	CCDS13499.1	20q13.33	2013-07-17	2001-11-28		ENSG00000130700	ENSG00000130700		"""GATA zinc finger domain containing"""	15802	protein-coding gene	gene with protein product		611496	"""GATA-binding protein 5"""			9566909	Standard	NM_080473		Approved	bB379O24.1, GATAS	uc002ycx.1	Q9BWX5	OTTHUMG00000032919	ENST00000252997.2:c.1107T>C	20.37:g.61039979A>G							p.F369F	NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.08e-06)		7	1168	-	Breast(26;2.05e-08)		369					D9ZGF7|Q17RE2|Q86VU4	Silent	SNP	ENST00000252997.2	37	c.1107T>C	CCDS13499.1																																																																																				0.672	GATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080038.2	NM_080473		15	38	0	0	0	1	0	15	38				
PPP1R3F	89801	broad.mit.edu	37	X	49142332	49142332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:49142332G>A	ENST00000055335.6	+	4	1196	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E65K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E48K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	394					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCCCGCAGAAGAAGGTGATGT	0.607																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1180-1182)Gaa>Aaa		protein phosphatase 1, regulatory subunit 3F							49.0	46.0	47.0					X																	49142332		2203	4300	6503	SO:0001583	missense	89801					integral to membrane		g.chrX:49142332G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1180G>A	X.37:g.49142332G>A	ENSP00000055335:p.Glu394Lys					PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E65K	p.E394K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN			4	1196	+	Ovarian(276;0.236)		394					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1180G>A	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192464	0.58017	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60672	0.6;0.6;0.17;0.6;0.6	5.27	2.39	0.29439	.	0.144157	0.32244	N	0.006374	T	0.35653	0.0939	L	0.27053	0.805	0.26715	N	0.970891	B;B;B	0.28713	0.22;0.22;0.141	B;B;B	0.25614	0.062;0.062;0.031	T	0.09975	-1.0650	10	0.25751	T	0.34	-2.378	4.668	0.12675	0.1822:0.1956:0.6222:0.0	.	65;79;394	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	48;65;394;48;48	ENSP00000420687:E48K;ENSP00000415548:E65K;ENSP00000055335:E394K;ENSP00000417535:E48K;ENSP00000365359:E48K	ENSP00000055335:E394K	E	+	1	0	PPP1R3F	49029276	1.000000	0.71417	0.999000	0.59377	0.849000	0.48306	2.155000	0.42301	0.958000	0.37956	0.529000	0.55759	GAA		0.607	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		17	36	0	0	0	1	0	17	36				
NHLH2	4808	broad.mit.edu	37	1	116380887	116380887	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:116380887G>T	ENST00000369506.1	-	1	5651	c.107C>A	c.(106-108)tCg>tAg	p.S36*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.S36*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	36					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCAGGTCCGACACGCTGCC	0.716																																						ENST00000369506.1																			0				prostate(1)	1						c.(106-108)tCg>tAg		nescient helix loop helix 2							7.0	9.0	8.0					1																	116380887		2142	4216	6358	SO:0001587	stop_gained	4808				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:116380887G>T		CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"""Basic helix-loop-helix proteins"""	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.107C>A	1.37:g.116380887G>T	ENSP00000358519:p.Ser36*					NHLH2_ENST00000320238.3_Nonsense_Mutation_p.S36*	p.S36*			Q02577	HEN2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	5651	-	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)	36					Q5T1P6	Nonsense_Mutation	SNP	ENST00000369506.1	37	c.107C>A	CCDS885.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518169	0.98332	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	.	.	.	4.31	4.31	0.51392	.	0.197142	0.34700	N	0.003760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5932	16.7906	0.85589	0.0:0.0:1.0:0.0	.	.	.	.	X	36	.	ENSP00000322087:S36X	S	-	2	0	NHLH2	116182410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.958000	0.56737	1.948000	0.56530	0.561000	0.74099	TCG		0.716	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033090.1	NM_005599		5	7	1	0	0.184627	1	0.184683	5	7				
IDO1	3620	broad.mit.edu	37	8	39785653	39785653	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:39785653C>T	ENST00000518237.1	+	10	1800	c.1161C>T	c.(1159-1161)ttC>ttT	p.F387F	IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	387					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TAATGAATTTCCTGAAGACTG	0.418																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(1159-1161)ttC>ttT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						54.0	50.0	51.0					8																	39785653		1874	4116	5990	SO:0001819	synonymous_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39785653C>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.1161C>T	8.37:g.39785653C>T						IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA	p.F387F	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			10	1800	+			387					Q540B4	Silent	SNP	ENST00000518237.1	37	c.1161C>T	CCDS47847.1																																																																																				0.418	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		5	9	0	0	0	1	0	5	9				
ZNF585A	199704	broad.mit.edu	37	19	37643441	37643441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37643441G>A	ENST00000356958.4	-	5	1618	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	ZNF585A_ENST00000392157.2_Missense_Mutation_p.H399Y|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H399Y|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATGAACATGGAGTTGCGAC	0.403																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1360-1362)Cat>Tat		zinc finger protein 585A							126.0	121.0	122.0					19																	37643441		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643441G>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1360C>T	19.37:g.37643441G>A	ENSP00000349440:p.His454Tyr					ZNF585A_ENST00000292841.5_Missense_Mutation_p.H399Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H399Y|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron	p.H454Y			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1618	-			454					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1360C>T		.	.	.	.	.	.	.	.	.	.	G	0.819	-0.749332	0.03065	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.36157	1.27;1.27;1.27	2.72	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38605	N	0.001633	T	0.40067	0.1102	L	0.38649	1.16	0.09310	N	0.999999	D	0.76494	0.999	D	0.71870	0.975	T	0.07083	-1.0791	10	0.31617	T	0.26	.	6.0925	0.20003	0.0:0.0:0.6966:0.3034	.	454	Q6P3V2	Z585A_HUMAN	Y	454;399;399	ENSP00000349440:H454Y;ENSP00000292841:H399Y;ENSP00000375998:H399Y	ENSP00000292841:H399Y	H	-	1	0	ZNF585A	42335281	0.000000	0.05858	0.051000	0.19133	0.683000	0.39861	-1.372000	0.02570	1.517000	0.48917	0.561000	0.74099	CAT		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		62	118	0	0	0	1	0	62	118				
CDH4	1002	broad.mit.edu	37	20	60498647	60498647	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498647C>T	ENST00000360469.5	+	10	1601	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S	CDH4_ENST00000543233.1_Missense_Mutation_p.P431S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CAACGAGGCTCCCTACTTCCC	0.617																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1513-1515)Ccc>Tcc		cadherin 4, type 1, R-cadherin (retinal)							82.0	70.0	74.0					20																	60498647		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498647C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1513C>T	20.37:g.60498647C>T	ENSP00000353656:p.Pro505Ser					CDH4_ENST00000543233.1_Missense_Mutation_p.P431S	p.P505S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1601	+			505			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1513C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063524	0.76187	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.84800	-1.9;-1.9	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.94023	0.8085	M	0.93241	3.395	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	D	0.95679	0.8730	9	.	.	.	.	17.6758	0.88230	0.0:1.0:0.0:0.0	.	505	P55283	CADH4_HUMAN	S	505;413;431	ENSP00000353656:P505S;ENSP00000443301:P431S	.	P	+	1	0	CDH4	59932042	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.535000	0.82014	2.162000	0.67917	0.543000	0.68304	CCC		0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		7	24	0	0	0	1	0	7	24				
PHF13	148479	broad.mit.edu	37	1	6680240	6680240	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:6680240C>T	ENST00000377648.4	+	3	901	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	173					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCTGGGACTCCGATACTCCCT	0.587																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(517-519)tcC>tcT		PHD finger protein 13																																				SO:0001819	synonymous_variant	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680240C>T	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.519C>T	1.37:g.6680240C>T						PHF13_ENST00000495385.1_Intron	p.S173S	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	901	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	173					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Silent	SNP	ENST00000377648.4	37	c.519C>T	CCDS85.1																																																																																				0.587	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		11	23	0	0	0	1	0	11	23				
NSFL1C	55968	broad.mit.edu	37	20	1424429	1424429	+	Silent	SNP	G	G	A	rs6079152		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:1424429G>A	ENST00000216879.4	-	9	1945	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	NSFL1C_ENST00000353088.2_Silent_p.L329L|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Silent_p.L249L|NSFL1C_ENST00000476071.1_Silent_p.L362L|NSFL1C_ENST00000350991.4_Silent_p.L362L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	360	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCATTGAGCAGGTTGGCTTCC	0.597																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1078-1080)Ctg>Ttg		NSFL1 (p97) cofactor (p47)							80.0	71.0	74.0					20																	1424429		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1424429G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.1078C>T	20.37:g.1424429G>A						NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L362L|NSFL1C_ENST00000350991.4_Silent_p.L362L|NSFL1C_ENST00000353088.2_Silent_p.L329L|NSFL1C_ENST00000381658.4_Silent_p.L249L	p.L360L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			9	1945	-			360			UBX.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.1078C>T	CCDS13015.1																																																																																				0.597	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		14	24	0	0	0	1	0	14	24				
SORBS1	10580	broad.mit.edu	37	10	97194428	97194428	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:97194428G>A	ENST00000361941.3	-	3	149	c.123C>T	c.(121-123)atC>atT	p.I41I	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371247.2_Silent_p.I41I|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000393949.1_Silent_p.I41I|SORBS1_ENST00000371246.2_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Silent_p.I41I	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.I41I(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCACAGGAATGATTTTAACAG	0.463																																						ENST00000371247.2																			2	Substitution - coding silent(2)	p.I41I(2)	lung(2)	NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(121-123)atC>atT		sorbin and SH3 domain containing 1							108.0	111.0	110.0					10																	97194428		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97194428G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.123C>T	10.37:g.97194428G>A						SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000361941.3_Silent_p.I41I|SORBS1_ENST00000393949.1_Silent_p.I41I|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000354106.3_Silent_p.I41I|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.I41I	p.I41I			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	5	312	-		Colorectal(252;0.0429)	41						Silent	SNP	ENST00000361941.3	37	c.123C>T	CCDS31255.1																																																																																				0.463	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			16	51	0	0	0	1	0	16	51				
CDH13	1012	broad.mit.edu	37	16	83159027	83159027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:83159027G>A	ENST00000566620.1	+	4	694	c.404G>A	c.(403-405)aGa>aAa	p.R135K	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000565636.1_Missense_Mutation_p.R135K|CDH13_ENST00000446376.2_Missense_Mutation_p.R135K|CDH13_ENST00000268613.10_Missense_Mutation_p.R182K|CDH13_ENST00000431540.3_Missense_Mutation_p.R135K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	135					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCTGTCCCAAGACAAAAGAGG	0.383																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(403-405)aGa>aAa		cadherin 13							77.0	73.0	74.0					16																	83159027		1817	4083	5900	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83159027G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.404G>A	16.37:g.83159027G>A	ENSP00000454435:p.Arg135Lys					CDH13_ENST00000565636.1_Missense_Mutation_p.R135K|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Missense_Mutation_p.R135K|CDH13_ENST00000431540.3_Missense_Mutation_p.R135K|CDH13_ENST00000268613.10_Missense_Mutation_p.R182K|CDH13_ENST00000428848.3_Intron	p.R135K	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	4	694	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	135					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.404G>A	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579768	0.86645	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000431540;ENST00000446376	T;T;T;T	0.62788	0.0;0.68;0.0;0.0	5.22	5.22	0.72569	Cadherin-like (1);	.	.	.	.	T	0.69611	0.3130	N	0.24115	0.695	0.23371	N	0.997818	D;D;P	0.89917	1.0;0.984;0.956	D;D;P	0.91635	0.999;0.956;0.899	T	0.64807	-0.6320	9	0.87932	D	0	.	16.6408	0.85098	0.0:0.0:1.0:0.0	.	182;135;135	B7Z9B1;A8W477;P55290	.;.;CAD13_HUMAN	K	182;135;135;135	ENSP00000268613:R182K;ENSP00000394557:R135K;ENSP00000408632:R135K;ENSP00000388804:R135K	ENSP00000268613:R182K	R	+	2	0	CDH13	81716528	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.703000	0.68340	2.595000	0.87683	0.563000	0.77884	AGA		0.383	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		16	17	0	0	0	1	0	16	17				
ATP10B	23120	broad.mit.edu	37	5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	rs534112987		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		19769	0.001		0.0	False		,,,				2504	0.0					ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(4360-4362)cGa>cAa		ATPase, class V, type 10B							132.0	126.0	128.0					5																	159992485		2026	4198	6224	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:159992485C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4361G>A	5.37:g.159992485C>T	ENSP00000313600:p.Arg1454Gln						p.R1454Q	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	5207	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1454					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.4361G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285426	0.80803	.	.	ENSG00000118322	ENST00000327245	T	0.49432	0.78	5.46	5.46	0.80206	.	0.000000	0.50627	D	0.000102	T	0.65176	0.2666	M	0.62723	1.935	0.31934	N	0.611763	D	0.89917	1.0	D	0.76575	0.988	T	0.70081	-0.4970	9	.	.	.	.	14.7921	0.69851	0.0:1.0:0.0:0.0	.	1454	O94823	AT10B_HUMAN	Q	1454	ENSP00000313600:R1454Q	.	R	-	2	0	ATP10B	159925063	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	4.086000	0.57664	2.559000	0.86315	0.563000	0.77884	CGA		0.532	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		33	62	0	0	0	1	0	33	62				
FSHR	2492	broad.mit.edu	37	2	49247274	49247274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:49247274C>T	ENST00000406846.2	-	3	369	c.250G>A	c.(250-252)Gag>Aag	p.E84K	FSHR_ENST00000346173.3_Missense_Mutation_p.E84K|FSHR_ENST00000304421.4_Missense_Mutation_p.E84K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	84					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCTATCACCTCCAAGACATCA	0.403									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(250-252)Gag>Aag		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						259.0	265.0	263.0					2																	49247274		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49247274C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.250G>A	2.37:g.49247274C>T	ENSP00000384708:p.Glu84Lys					FSHR_ENST00000346173.3_Missense_Mutation_p.E84K|FSHR_ENST00000304421.4_Missense_Mutation_p.E84K	p.E84K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	369	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	84					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.250G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565499	0.45694	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.3	4.42	0.53409	.	0.070277	0.64402	D	0.000007	D	0.89567	0.6752	L	0.41961	1.31	0.80722	D	1	B;D;B	0.89917	0.028;1.0;0.119	B;D;B	0.91635	0.025;0.999;0.081	D	0.88110	0.2825	9	.	.	.	.	11.1777	0.48610	0.1833:0.8167:0.0:0.0	.	84;84;84	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	84	ENSP00000384708:E84K;ENSP00000333908:E84K;ENSP00000306780:E84K;ENSP00000415504:E84K	.	E	-	1	0	FSHR	49100778	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	4.211000	0.58507	1.439000	0.47511	-0.188000	0.12872	GAG		0.403	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			119	179	0	0	0	1	0	119	179				
YARS	8565	broad.mit.edu	37	1	33282827	33282827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:33282827G>A	ENST00000373477.4	-	1	927	c.19C>T	c.(19-21)Cct>Tct	p.P7S	S100PBP_ENST00000398243.3_5'Flank|S100PBP_ENST00000373475.5_5'Flank|S100PBP_ENST00000373476.1_5'Flank	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	7					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCTCTTCAGGGCTGGGAGCG	0.657																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(19-21)Cct>Tct		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						97.0	93.0	95.0					1																	33282827		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33282827G>A	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.19C>T	1.37:g.33282827G>A	ENSP00000362576:p.Pro7Ser						p.P7S	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			1	927	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	7					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.19C>T	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.845945	0.71603	.	.	ENSG00000134684	ENST00000373477	T	0.71579	-0.58	5.23	4.32	0.51571	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.046113	0.85682	N	0.000000	T	0.65176	0.2666	M	0.80422	2.495	0.80722	D	1	P	0.37176	0.586	B	0.25987	0.065	T	0.65220	-0.6221	10	0.11182	T	0.66	-4.5122	14.0207	0.64553	0.0733:0.0:0.9267:0.0	.	7	P54577	SYYC_HUMAN	S	7	ENSP00000362576:P7S	ENSP00000362576:P7S	P	-	1	0	YARS	33055414	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.266000	0.65525	1.351000	0.45789	0.561000	0.74099	CCT		0.657	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		51	52	0	0	0	1	0	51	52				
NOC3L	64318	broad.mit.edu	37	10	96093937	96093937	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:96093937G>A	ENST00000371361.3	-	21	2500	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	NOC3L_ENST00000371350.1_Silent_p.H800H|NOC3L_ENST00000543788.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	800					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCCTCTACTAGTGTAGTGATG	0.333																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(2398-2400)caC>caT		nucleolar complex associated 3 homolog (S. cerevisiae)							81.0	83.0	82.0					10																	96093937		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96093937G>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2400C>T	10.37:g.96093937G>A						NOC3L_ENST00000543788.1_Intron|NOC3L_ENST00000371350.1_Silent_p.H800H	p.H800H	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			21	2500	-		Colorectal(252;0.0897)	800					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.2400C>T	CCDS7433.1																																																																																				0.333	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		16	36	0	0	0	1	0	16	36				
ADCK2	90956	broad.mit.edu	37	7	140394569	140394569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:140394569C>T	ENST00000072869.4	+	8	2025	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000204307.5_5'Flank|ADCK2_ENST00000476491.1_Intron|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	616	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GCAGCGAGGCCCTTCCTCCTC	0.622																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1846-1848)cCc>cTc		aarF domain containing kinase 2							103.0	93.0	96.0					7																	140394569		2203	4300	6503	SO:0001583	missense	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394569C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1847C>T	7.37:g.140394569C>T	ENSP00000072869:p.Pro616Leu					NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	p.P616L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			8	2025	+	Melanoma(164;0.00956)		616			Protein kinase.		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	c.1847C>T	CCDS5861.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843966	0.91197	.	.	ENSG00000133597	ENST00000072869;ENST00000473512	T;T	0.32023	1.47;1.47	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76656	-0.2879	10	0.87932	D	0	-25.6152	18.3148	0.90217	0.0:1.0:0.0:0.0	.	616	Q7Z695	ADCK2_HUMAN	L	616;213	ENSP00000072869:P616L;ENSP00000420288:P213L	ENSP00000072869:P616L	P	+	2	0	ADCK2	140041038	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.413000	0.80104	2.312000	0.78011	0.561000	0.74099	CCC		0.622	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		39	41	0	0	0	1	0	39	41				
ALOX5	240	broad.mit.edu	37	10	45938939	45938939	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:45938939C>T	ENST00000374391.2	+	11	1580	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Silent_p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	509	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGGACTTCGTGAACGATG	0.687																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1525-1527)ttC>ttT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						56.0	52.0	53.0					10																	45938939		2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45938939C>T	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1527C>T	10.37:g.45938939C>T						ALOX5_ENST00000542434.1_Silent_p.F509F	p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			11	1580	+		Lung SC(717;0.0257)	509			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.1527C>T	CCDS7212.1																																																																																				0.687	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			15	24	0	0	0	1	0	15	24				
CDHR5	53841	broad.mit.edu	37	11	618799	618799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:618799C>T	ENST00000358353.3	-	14	2082	c.1760G>A	c.(1759-1761)gGa>gAa	p.G587E	IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.G587E|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	587	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTGCTGGTTCCCATACTGGG	0.667																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1759-1761)gGa>gAa		cadherin-related family member 5							103.0	110.0	108.0					11																	618799		2202	4300	6502	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618799C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1760G>A	11.37:g.618799C>T	ENSP00000351118:p.Gly587Glu					CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G587E	p.G587E			Q9HBB8	CDHR5_HUMAN			14	2082	-			587			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1760G>A	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495369	0.26774	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.51325	0.71;0.71	2.42	-1.15	0.09709	.	.	.	.	.	T	0.45617	0.1351	L	0.29908	0.895	0.09310	N	1	D;D	0.67145	0.996;0.996	P;P	0.60541	0.876;0.876	T	0.39014	-0.9634	9	0.30854	T	0.27	-0.4355	7.0496	0.25065	0.184:0.2699:0.5461:0.0	.	581;587	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	E	587	ENSP00000380676:G587E;ENSP00000351118:G587E	ENSP00000351118:G587E	G	-	2	0	CDHR5	608799	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.329000	0.19698	-0.226000	0.09899	-0.305000	0.09177	GGA		0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		63	121	0	0	0	1	0	63	121				
KCNK1	3775	broad.mit.edu	37	1	233807018	233807018	+	Splice_Site	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:233807018T>C	ENST00000366621.3	+	3	921	c.753T>C	c.(751-753)tgT>tgC	p.C251C	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135C	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	251					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CTCACACAGGTTACCTGCTAC	0.423																																						ENST00000366621.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11						c.e3-1		potassium channel, subfamily K, member 1	Ibutilide(DB00308)|Quinidine(DB00908)						131.0	126.0	128.0					1																	233807018		2203	4300	6503	SO:0001630	splice_region_variant	3775					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr1:233807018T>C	U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.752-1T>C	1.37:g.233807018T>C						KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice	p.C251_splice	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN			3	921	+		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)	251					Q13307|Q5T5E8	Splice_Site	SNP	ENST00000366621.3	37	c.751_splice	CCDS1599.1																																																																																				0.423	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1	NM_002245	Silent	22	68	0	0	0	1	0	22	68				
C12orf42	374470	broad.mit.edu	37	12	103695916	103695916	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:103695916A>G	ENST00000378113.2	-	6	1278	c.1053T>C	c.(1051-1053)tcT>tcC	p.S351S	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Silent_p.S284S|C12orf42_ENST00000548883.1_Silent_p.S351S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	351										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CCACCGGCCTAGAAAGGGCCT	0.537																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(850-852)tcT>tcC		chromosome 12 open reading frame 42							53.0	59.0	57.0					12																	103695916		1855	4093	5948	SO:0001819	synonymous_variant	374470							g.chr12:103695916A>G	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1053T>C	12.37:g.103695916A>G						C12orf42_ENST00000548883.1_Silent_p.S351S|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.S351S	p.S284S			Q96LP6	CL042_HUMAN			9	1348	-			351					Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	c.852T>C	CCDS44963.1																																																																																				0.537	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		80	18	0	0	0	1	0	80	18				
NLRP10	338322	broad.mit.edu	37	11	7982492	7982492	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:7982492G>A	ENST00000328600.2	-	2	828	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	223	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L223F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGAAAAGGAGCTGCTCC	0.547																																						ENST00000328600.2																			1	Substitution - Missense(1)	p.L223F(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(667-669)Ctt>Ttt		NLR family, pyrin domain containing 10							38.0	40.0	39.0					11																	7982492		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982492G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.667C>T	11.37:g.7982492G>A	ENSP00000327763:p.Leu223Phe						p.L223F	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	828	-			223			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.667C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523634	0.27299	.	.	ENSG00000182261	ENST00000328600	D	0.86694	-2.16	5.25	-1.51	0.08664	NACHT nucleoside triphosphatase (1);	0.214988	0.23760	N	0.044831	D	0.89217	0.6652	M	0.64676	1.99	0.09310	N	0.999999	D	0.59357	0.985	D	0.64410	0.925	T	0.81892	-0.0724	10	0.87932	D	0	.	9.002	0.36088	0.0:0.1254:0.2393:0.6352	.	223	Q86W26	NAL10_HUMAN	F	223	ENSP00000327763:L223F	ENSP00000327763:L223F	L	-	1	0	NLRP10	7939068	0.002000	0.14202	0.024000	0.17045	0.002000	0.02628	-0.056000	0.11787	-0.011000	0.14247	-0.182000	0.12963	CTT		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		20	28	0	0	0	1	0	20	28				
TET1	80312	broad.mit.edu	37	10	70332448	70332448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:70332448C>T	ENST00000373644.4	+	2	562	c.353C>T	c.(352-354)cCc>cTc	p.P118L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	118					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTCTCCCAACCCCCACTGGTC	0.458																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(352-354)cCc>cTc		tet methylcytosine dioxygenase 1							59.0	57.0	58.0					10																	70332448		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332448C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.353C>T	10.37:g.70332448C>T	ENSP00000362748:p.Pro118Leu						p.P118L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	562	+			118					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.353C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399167	0.62177	.	.	ENSG00000138336	ENST00000373644	T	0.06528	3.29	5.24	4.31	0.51392	.	0.136240	0.34088	N	0.004272	T	0.09158	0.0226	L	0.27053	0.805	0.26943	N	0.966218	D	0.59357	0.985	P	0.50970	0.655	T	0.05225	-1.0898	10	0.72032	D	0.01	.	12.8878	0.58053	0.0:0.83:0.17:0.0	.	118	Q8NFU7	TET1_HUMAN	L	118	ENSP00000362748:P118L	ENSP00000362748:P118L	P	+	2	0	TET1	70002454	0.112000	0.22096	0.833000	0.33012	0.990000	0.78478	2.178000	0.42519	1.156000	0.42514	0.563000	0.77884	CCC		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		33	44	0	0	0	1	0	33	44				
ZIM2	23619	broad.mit.edu	37	19	57286732	57286732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57286732C>T	ENST00000391708.3	-	12	1450	c.908G>A	c.(907-909)gGa>gAa	p.G303E	ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GGGATCCTTTCCTAGAGGATC	0.453																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(907-909)gGa>gAa		zinc finger, imprinted 2							119.0	114.0	116.0					19																	57286732		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286732C>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.908G>A	19.37:g.57286732C>T	ENSP00000375589:p.Gly303Glu					ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E	p.G303E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1450	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.908G>A	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720643	0.48728	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04317	3.65;3.65	3.89	0.45	0.16624	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	.	.	.	B	0.21606	0.058	B	0.20184	0.028	T	0.37911	-0.9685	8	0.49607	T	0.09	.	2.8917	0.05678	0.3745:0.3962:0.0:0.2293	.	303	Q9NZV7	ZIM2_HUMAN	E	303	ENSP00000375589:G303E;ENSP00000221722:G303E	ENSP00000221722:G303E	G	-	2	0	ZIM2	61978544	0.000000	0.05858	0.131000	0.22000	0.731000	0.41821	-0.337000	0.07852	0.176000	0.19873	0.655000	0.94253	GGA		0.453	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			26	37	0	0	0	1	0	26	37				
HNF4A	3172	broad.mit.edu	37	20	43056986	43056986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:43056986G>A	ENST00000316099.4	+	9	1230	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	HNF4A_ENST00000415691.2_Missense_Mutation_p.D381N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D359N|HNF4A_ENST00000316673.4_Missense_Mutation_p.D359N	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCCAGCGATGCACCCCA	0.592																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1141-1143)Gat>Aat		hepatocyte nuclear factor 4, alpha							109.0	83.0	92.0					20																	43056986		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056986G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1141G>A	20.37:g.43056986G>A	ENSP00000312987:p.Asp381Asn					HNF4A_ENST00000415691.1_Missense_Mutation_p.D381N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D359N	p.D381N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	1230	+		Myeloproliferative disorder(115;0.0122)	381					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1141G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513242	0.96402	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.93	5.93	0.95920	.	3.241510	0.01138	N	0.006125	D	0.82683	0.5090	L	0.47716	1.5	0.80722	D	1	D;D;P;D;D	0.63046	0.985;0.964;0.88;0.964;0.992	P;P;B;P;P	0.58721	0.707;0.467;0.382;0.595;0.844	T	0.67749	-0.5590	10	0.36615	T	0.2	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	374;381;381;359;359	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	N	359;359;381;411;381	ENSP00000315180:D359N;ENSP00000396216:D359N;ENSP00000312987:D381N;ENSP00000412111:D381N	ENSP00000312987:D381N	D	+	1	0	HNF4A	42490400	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.837000	0.99465	2.814000	0.96858	0.563000	0.77884	GAT		0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			26	51	0	0	0	1	0	26	51				
CDH11	1009	broad.mit.edu	37	16	65022213	65022213	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:65022213G>A	ENST00000268603.4	-	7	1461	c.846C>T	c.(844-846)gtC>gtT	p.V282V	CDH11_ENST00000566827.1_Silent_p.V156V|CDH11_ENST00000394156.3_Silent_p.V282V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCCCAGGGACGGCTGCTT	0.398			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(844-846)gtC>gtT		cadherin 11, type 2, OB-cadherin (osteoblast)							175.0	161.0	165.0					16																	65022213		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022213G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.846C>T	16.37:g.65022213G>A		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.V282V|CDH11_ENST00000566827.1_Silent_p.V156V	p.V282V			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1299	-		Ovarian(137;0.0973)	282			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.846C>T	CCDS10803.1																																																																																				0.398	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		36	74	0	0	0	1	0	36	74				
LHCGR	3973	broad.mit.edu	37	2	48915041	48915041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:48915041C>T	ENST00000294954.7	-	11	1916	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K|LHCGR_ENST00000401907.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	632					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGAAATCTCTTTGGAATGT	0.358																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1894-1896)aGa>aAa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						85.0	90.0	88.0					2																	48915041		2203	4298	6501	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915041C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1895G>A	2.37:g.48915041C>T	ENSP00000294954:p.Arg632Lys					LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K	p.R632K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1916	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	632					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1895G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014828	0.54468	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.95447	-3.71;-3.71;-3.71	5.92	5.05	0.67936	.	0.091723	0.64402	N	0.000001	D	0.96765	0.8944	M	0.64404	1.975	0.41077	D	0.985496	D	0.59767	0.986	D	0.69654	0.965	D	0.96542	0.9401	9	.	.	.	.	14.0743	0.64880	0.0:0.928:0.0:0.072	.	632	P22888	LSHR_HUMAN	K	570;632;605	ENSP00000344301:R570K;ENSP00000294954:R632K;ENSP00000386033:R605K	.	R	-	2	0	LHCGR	48768545	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.201000	0.51059	1.503000	0.48686	0.585000	0.79938	AGA		0.358	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		46	70	0	0	0	1	0	46	70				
PCDHGB2	56103	broad.mit.edu	37	5	140740139	140740139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140740139C>T	ENST00000522605.1	+	1	437	c.437C>T	c.(436-438)aCt>aTt	p.T146I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAATCCACTAAGCCAGGT	0.373																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(436-438)aCt>aTt									64.0	62.0	63.0					5																	140740139		1848	4087	5935	SO:0001583	missense	56103							g.chr5:140740139C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.437C>T	5.37:g.140740139C>T	ENSP00000429018:p.Thr146Ile					PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.T146I	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	437	+								Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.437C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	9.072	0.997087	0.19043	.	.	ENSG00000253910	ENST00000522605	T	0.52295	0.67	5.41	3.5	0.40072	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38532	0.1044	L	0.39692	1.235	0.23997	N	0.996229	B;P	0.37276	0.03;0.589	B;B	0.35727	0.02;0.209	T	0.30060	-0.9991	9	0.59425	D	0.04	.	10.4167	0.44327	0.1372:0.7881:0.0:0.0748	.	146;146	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	I	146	ENSP00000429018:T146I	ENSP00000429018:T146I	T	+	2	0	PCDHGB2	140720323	0.000000	0.05858	0.997000	0.53966	0.207000	0.24258	0.602000	0.24134	2.685000	0.91497	0.563000	0.77884	ACT		0.373	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		30	37	0	0	0	1	0	30	37				
JAKMIP2	9832	broad.mit.edu	37	5	147023718	147023718	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147023718G>A	ENST00000265272.5	-	7	1594	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	376						Golgi apparatus (GO:0005794)		p.S376Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCATTCAGAGATTTTAATTT	0.373																																						ENST00000265272.5																			1	Substitution - Missense(1)	p.S376Y(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(1126-1128)tCt>tTt		janus kinase and microtubule interacting protein 2							121.0	117.0	119.0					5																	147023718		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147023718G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1127C>T	5.37:g.147023718G>A	ENSP00000265272:p.Ser376Phe					JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F	p.S376F	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1594	-			376					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.1127C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826655	0.90955	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35973	1.28;1.28;1.29	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.74348	0.983;0.983;0.983;0.983	T	0.66685	-0.5861	10	0.87932	D	0	.	19.7462	0.96252	0.0:0.0:1.0:0.0	.	334;376;376;376	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	F	376;376;334;376	ENSP00000421398:S376F;ENSP00000265272:S376F;ENSP00000328989:S334F	ENSP00000265272:S376F	S	-	2	0	JAKMIP2	147003911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	TCT		0.373	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		25	45	0	0	0	1	0	25	45				
PDS5B	23047	broad.mit.edu	37	13	33315221	33315221	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:33315221C>T	ENST00000315596.10	+	22	2596	c.2410C>T	c.(2410-2412)Cca>Tca	p.P804S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	804					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTTTTAGCTTCCAGGGAAAAA	0.303																																						ENST00000315596.10																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(2410-2412)Cca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							81.0	73.0	76.0					13																	33315221		1795	4055	5850	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33315221C>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2410C>T	13.37:g.33315221C>T	ENSP00000313851:p.Pro804Ser						p.P804S	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	22	2596	+		Lung SC(185;0.0367)	804					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.2410C>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108124	0.56291	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	N	0.22421	0.69	0.80722	D	1	B	0.21753	0.06	B	0.23716	0.048	T	0.44544	-0.9321	9	0.09338	T	0.73	-9.9633	19.0003	0.92830	0.0:1.0:0.0:0.0	.	804	Q9NTI5	PDS5B_HUMAN	S	804	.	ENSP00000313851:P804S	P	+	1	0	PDS5B	32213221	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.324000	0.59228	2.735000	0.93741	0.655000	0.94253	CCA		0.303	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		24	50	0	0	0	1	0	24	50				
PAN2	9924	broad.mit.edu	37	12	56721345	56721345	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:56721345T>C	ENST00000425394.2	-	6	1098	c.722A>G	c.(721-723)gAc>gGc	p.D241G	PAN2_ENST00000548043.1_Missense_Mutation_p.D241G|PAN2_ENST00000257931.5_Missense_Mutation_p.D241G|PAN2_ENST00000440411.3_Missense_Mutation_p.D241G	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CACATCAAAGTCTGACAGACT	0.488																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(721-723)gAc>gGc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							88.0	87.0	87.0					12																	56721345		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721345T>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.722A>G	12.37:g.56721345T>C	ENSP00000401721:p.Asp241Gly					PAN2_ENST00000440411.3_Missense_Mutation_p.D241G|PAN2_ENST00000548043.1_Missense_Mutation_p.D241G|PAN2_ENST00000257931.5_Missense_Mutation_p.D241G	p.D241G	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			6	1098	-			241						Missense_Mutation	SNP	ENST00000425394.2	37	c.722A>G	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365000	0.82463	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;1.33	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.85859	2.78	0.80722	D	1	D;D;D	0.58970	0.965;0.984;0.966	P;P;P	0.57371	0.819;0.768;0.492	T	0.74565	-0.3623	10	0.46703	T	0.11	-16.2074	14.4245	0.67204	0.0:0.0:0.0:1.0	.	241;241;241	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	G	241;241;241;241;102	ENSP00000401721:D241G;ENSP00000388231:D241G;ENSP00000257931:D241G;ENSP00000449861:D241G;ENSP00000449092:D102G	ENSP00000257931:D241G	D	-	2	0	PAN2	55007612	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	7.986000	0.88173	2.099000	0.63709	0.533000	0.62120	GAC		0.488	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		25	46	0	0	0	1	0	25	46				
TNPO2	30000	broad.mit.edu	37	19	12817449	12817449	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12817449G>A	ENST00000592287.1	-	13	1539	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	TNPO2_ENST00000441499.1_Silent_p.P477P|TNPO2_ENST00000450764.2_Silent_p.P477P|TNPO2_ENST00000588216.1_Silent_p.P477P|SNORD41_ENST00000386967.1_RNA|TNPO2_ENST00000356861.5_Silent_p.P477P|TNPO2_ENST00000425528.1_Silent_p.P477P	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	477					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCATCAGGGGCTTGAGGT	0.632																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1429-1431)ccC>ccT		transportin 2							48.0	50.0	49.0					19																	12817449		2186	4283	6469	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12817449G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1431C>T	19.37:g.12817449G>A						TNPO2_ENST00000592287.1_Silent_p.P477P|TNPO2_ENST00000356861.5_Silent_p.P477P|TNPO2_ENST00000441499.1_Silent_p.P477P|TNPO2_ENST00000588216.1_Silent_p.P477P|TNPO2_ENST00000450764.2_Silent_p.P477P	p.P477P			O14787	TNPO2_HUMAN			14	1788	-			477					O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.1431C>T	CCDS45991.1																																																																																				0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		14	25	0	0	0	1	0	14	25				
FAM208B	54906	broad.mit.edu	37	10	5782359	5782359	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:5782359C>T	ENST00000328090.5	+	13	2851	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	742																	GTGATGACTCCGTTAAGATCA	0.448																																						ENST00000328090.5																			0											c.(2224-2226)tcC>tcT		family with sequence similarity 208, member B							71.0	67.0	68.0					10																	5782359		1949	4147	6096	SO:0001819	synonymous_variant	54906							g.chr10:5782359C>T	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2226C>T	10.37:g.5782359C>T						RP11-336A10.2_ENST00000411512.2_RNA	p.S742S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			13	2851	+			742					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.2226C>T	CCDS41485.1																																																																																				0.448	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		34	45	0	0	0	1	0	34	45				
PRKG1	5592	broad.mit.edu	37	10	54032216	54032216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:54032216G>A	ENST00000401604.2	+	12	1527	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	PRKG1_ENST00000373980.4_Missense_Mutation_p.E460K|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.E433K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.E163K			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTAGGTGGAGAGCTCTGGAC	0.343																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(1378-1380)Gag>Aag		protein kinase, cGMP-dependent, type I							130.0	127.0	128.0					10																	54032216		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54032216G>A		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1333G>A	10.37:g.54032216G>A	ENSP00000384200:p.Glu445Lys					PRKG1_ENST00000373975.2_Missense_Mutation_p.E163K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.E445K|PRKG1_ENST00000373985.1_Missense_Mutation_p.E433K|PRKG1-AS1_ENST00000426785.2_RNA	p.E460K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	12	1795	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	445			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1378G>A	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	36	5.866117	0.97043	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.08720	3.06;3.06;3.06	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41236	0.1150	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.996	T	0.44019	-0.9355	10	0.87932	D	0	-24.5636	20.2672	0.98462	0.0:0.0:1.0:0.0	.	163;460;445	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	K	445;433;460;163;57	ENSP00000384200:E445K;ENSP00000363097:E433K;ENSP00000363092:E460K	ENSP00000327642:E163K	E	+	1	0	PRKG1	53702222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.467000	0.97671	2.894000	0.99253	0.591000	0.81541	GAG		0.343	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				26	45	0	0	0	1	0	26	45				
MARCH4	57574	broad.mit.edu	37	2	217148396	217148396	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:217148396A>G	ENST00000273067.4	-	2	2339	c.573T>C	c.(571-573)ccT>ccC	p.P191P		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	191						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)		TGATGAGGCAAGGCTGGTGTG	0.587																																						ENST00000273067.4																			0				breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20						c.(571-573)ccT>ccC		membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase							71.0	64.0	66.0					2																	217148396		2203	4300	6503	SO:0001819	synonymous_variant	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217148396A>G	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.573T>C	2.37:g.217148396A>G							p.P191P	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)	2	2339	-		Renal(323;0.0854)	191					Q4KMN7|Q86WR8	Silent	SNP	ENST00000273067.4	37	c.573T>C	CCDS33376.1																																																																																				0.587	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		23	8	0	0	0	1	0	23	8				
CCDC33	80125	broad.mit.edu	37	15	74536395	74536395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:74536395C>T	ENST00000398814.3	+	2	522	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	CCDC33_ENST00000321288.5_Missense_Mutation_p.P234S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	234										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						TCACCTGTCTCCCTCTAAGAA	0.587																																						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.(700-702)Ccc>Tcc		coiled-coil domain containing 33							70.0	76.0	74.0					15																	74536395		1980	4131	6111	SO:0001583	missense	80125						protein binding	g.chr15:74536395C>T	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.91C>T	15.37:g.74536395C>T	ENSP00000381795:p.Pro31Ser					CCDC33_ENST00000398814.3_Missense_Mutation_p.P31S	p.P234S			Q8N5R6	CCD33_HUMAN			4	700	+			234			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	ENST00000398814.3	37	c.700C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943924	0.34283	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	T;T	0.38240	1.15;1.15	4.75	2.83	0.33086	.	.	.	.	.	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.30851	0.297	B	0.34779	0.189	T	0.26395	-1.0104	9	0.25751	T	0.34	.	6.3123	0.21171	0.0:0.7108:0.1875:0.1017	.	31	Q8N5R6-6	.	S	234;31	ENSP00000325012:P234S;ENSP00000381795:P31S	ENSP00000325012:P234S	P	+	1	0	CCDC33	72323448	0.193000	0.23313	0.720000	0.30636	0.531000	0.34715	1.556000	0.36288	0.420000	0.25954	0.561000	0.74099	CCC		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		42	47	0	0	0	1	0	42	47				
APC	324	broad.mit.edu	37	5	112175429	112175429	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:112175429A>C	ENST00000457016.1	+	16	4518	c.4138A>C	c.(4138-4140)Acc>Ccc	p.T1380P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1380P|APC_ENST00000257430.4_Missense_Mutation_p.T1380P			P25054	APC_HUMAN	adenomatous polyposis coli	1380	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.Y1376fs*41(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGTTCAGGAGACCCCACTCAT	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		8	Deletion - Frameshift(4)|Insertion - Frameshift(3)|Unknown(1)	p.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.Y1376fs*41(1)	large_intestine(6)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4138-4140)Acc>Ccc		adenomatous polyposis coli							97.0	92.0	94.0					5																	112175429		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175429A>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4138A>C	5.37:g.112175429A>C	ENSP00000413133:p.Thr1380Pro	TSP Lung(16;0.13)				CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1380P|APC_ENST00000257430.4_Missense_Mutation_p.T1380P	p.T1380P			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4518	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1380			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4138A>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.486268	0.63962	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95069	-3.6;-3.6;-3.6	6.17	5.0	0.66597	.	0.094216	0.64402	D	0.000001	D	0.95921	0.8672	L	0.58810	1.83	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	D	0.94988	0.8132	9	.	.	.	-20.4372	12.5659	0.56310	0.8752:0.0:0.0:0.1248	.	1382;1380	Q4LE70;P25054	.;APC_HUMAN	P	1380	ENSP00000413133:T1380P;ENSP00000257430:T1380P;ENSP00000427089:T1380P	.	T	+	1	0	APC	112203328	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.962000	0.93254	1.126000	0.42016	0.533000	0.62120	ACC		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		24	59	0	0	0	1	0	24	59				
ABCC1	4363	broad.mit.edu	37	16	16215871	16215871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:16215871G>A	ENST00000399410.3	+	24	3605	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K|ABCC1_ENST00000399408.2_Missense_Mutation_p.E1154K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1144	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GAAGCGCCTCGAGTCGGTCAG	0.617																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3460-3462)Gag>Aag		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						32.0	36.0	34.0					16																	16215871		2139	4268	6407	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16215871G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3430G>A	16.37:g.16215871G>A	ENSP00000382342:p.Glu1144Lys					ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K	p.E1154K			P33527	MRP1_HUMAN			25	3635	+			1144			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.3460G>A	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112630	0.94339	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.36	4.41	0.53225	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045211	0.85682	N	0.000000	D	0.96617	0.8896	H	0.96111	3.77	0.54753	D	0.999981	D;D;D;D;D;D	0.89917	0.989;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.882;0.999;0.997;0.996;0.999;0.999	D	0.97231	0.9884	10	0.87932	D	0	-36.1219	12.784	0.57493	0.0784:0.0:0.9216:0.0	.	1029;1144;1088;1085;1144;1154	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	K	1144;1154;1088;1085;1144;1029;828	ENSP00000382342:E1144K;ENSP00000382340:E1154K;ENSP00000263019:E1088K;ENSP00000263017:E1085K;ENSP00000263014:E1144K;ENSP00000263016:E1029K	ENSP00000263014:E1144K	E	+	1	0	ABCC1	16123372	1.000000	0.71417	0.813000	0.32504	0.765000	0.43378	9.828000	0.99408	1.262000	0.44165	0.561000	0.74099	GAG		0.617	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		14	32	0	0	0	1	0	14	32				
OR4A16	81327	broad.mit.edu	37	11	55110910	55110910	+	Silent	SNP	A	A	G	rs201952971	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:55110910A>G	ENST00000314721.2	+	1	284	c.234A>G	c.(232-234)aaA>aaG	p.K78K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTCACCCAAATTGATGATAG	0.453																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(232-234)aaA>aaG		olfactory receptor, family 4, subfamily A, member 16		A		0,4402		0,0,2201	200.0	181.0	188.0		234	-2.3	0.0	11		188	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4A16	NM_001005274.1		0,1,6496	GG,GA,AA		0.0116,0.0,0.0077		78/329	55110910	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110910A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.234A>G	11.37:g.55110910A>G							p.K78K	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	284	+			78					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.234A>G	CCDS31499.1																																																																																				0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		75	130	0	0	0	1	0	75	130				
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	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"""		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(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	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)Cct>Tct	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577106		2203	4300	6503	SO:0001583	missense	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.chr17:7577106G>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.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	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_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	p.P278S	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)	8	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	6	0	0	0	1	0	25	6				
UNC5D	137970	broad.mit.edu	37	8	35453130	35453130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:35453130G>A	ENST00000404895.2	+	4	853	c.525G>A	c.(523-525)atG>atA	p.M175I	UNC5D_ENST00000416672.1_Missense_Mutation_p.M175I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M170I|UNC5D_ENST00000287272.2_Missense_Mutation_p.M175I|UNC5D_ENST00000420357.1_Missense_Mutation_p.M175I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	175	Ig-like C2-type.				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)		TTGAAGGCATGATTGTACTGC	0.517																																						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.(523-525)atG>atA		unc-5 homolog D (C. elegans)							139.0	130.0	133.0					8																	35453130		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35453130G>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.525G>A	8.37:g.35453130G>A	ENSP00000385143:p.Met175Ile					UNC5D_ENST00000420357.1_Missense_Mutation_p.M175I|UNC5D_ENST00000404895.2_Missense_Mutation_p.M175I|UNC5D_ENST00000416672.1_Missense_Mutation_p.M175I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M170I	p.M175I			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	4	545	+			175			Ig-like C2-type.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.525G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	33	5.280159	0.95489	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.93	5.93	0.95920	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	L	0.41632	1.29	0.80722	D	1	D;D	0.62365	0.991;0.988	D;P	0.69479	0.964;0.906	T	0.76849	-0.2807	10	0.62326	D	0.03	-26.4487	19.9285	0.97112	0.0:0.0:1.0:0.0	.	170;175	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	I	175;175;175;175;170	ENSP00000385143:M175I;ENSP00000392739:M175I;ENSP00000287272:M175I;ENSP00000412652:M175I;ENSP00000394303:M170I	ENSP00000287272:M175I	M	+	3	0	UNC5D	35572672	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.052000	0.93855	2.818000	0.97014	0.591000	0.81541	ATG		0.517	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			42	70	0	0	0	1	0	42	70				
LRP5	4041	broad.mit.edu	37	11	68207319	68207319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:68207319C>T	ENST00000294304.7	+	21	4529	c.4423C>T	c.(4423-4425)Cgg>Tgg	p.R1475W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1475					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCTACGACCGGAACCACGT	0.721																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4423-4425)Cgg>Tgg		low density lipoprotein receptor-related protein 5							14.0	17.0	16.0					11																	68207319		2191	4284	6475	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68207319C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4423C>T	11.37:g.68207319C>T	ENSP00000294304:p.Arg1475Trp						p.R1475W	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			21	4529	+			1475					Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4423C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307037	0.81247	.	.	ENSG00000162337	ENST00000294304	D	0.95588	-3.75	4.76	4.76	0.60689	.	0.000000	0.46145	U	0.000303	D	0.97232	0.9095	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.97229	0.9883	10	0.87932	D	0	.	11.0034	0.47620	0.32:0.68:0.0:0.0	.	1475;1475	Q9UES7;O75197	.;LRP5_HUMAN	W	1475	ENSP00000294304:R1475W	ENSP00000294304:R1475W	R	+	1	2	LRP5	67963895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.129000	0.31381	2.511000	0.84671	0.555000	0.69702	CGG		0.721	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		5	5	0	0	0	1	0	5	5				
OTOA	146183	broad.mit.edu	37	16	21698771	21698771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21698771G>A	ENST00000286149.4	+	7	438	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000388958.3_Missense_Mutation_p.R146Q			Q7RTW8	OTOAN_HUMAN	otoancorin	146					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGAGAGATTCGAGAACGAGCC	0.522																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(436-438)cGa>cAa		otoancorin							119.0	112.0	114.0					16																	21698771		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698771G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.437G>A	16.37:g.21698771G>A	ENSP00000286149:p.Arg146Gln					OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q	p.R146Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	7	438	+			146					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.437G>A		.	.	.	.	.	.	.	.	.	.	G	9.785	1.176257	0.21704	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12672	2.66;2.66;2.66	4.91	0.669	0.17918	.	0.243669	0.33895	N	0.004449	T	0.13114	0.0318	M	0.66939	2.045	0.58432	D	0.99999	B;B	0.33120	0.398;0.398	B;B	0.26094	0.066;0.046	T	0.06445	-1.0826	10	0.87932	D	0	-9.0875	8.84	0.35135	0.3327:0.0:0.6673:0.0	.	67;146	B3KWU3;E9PF51	.;.	Q	146;146;67	ENSP00000373610:R146Q;ENSP00000286149:R146Q;ENSP00000373608:R67Q	ENSP00000286149:R146Q	R	+	2	0	OTOA	21606272	0.872000	0.30054	0.660000	0.29694	0.033000	0.12548	1.094000	0.30951	0.143000	0.18926	-0.133000	0.14855	CGA		0.522	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			44	80	0	0	0	1	0	44	80				
UPF3B	65109	broad.mit.edu	37	X	118971739	118971739	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:118971739C>T	ENST00000276201.2	-	10	1352	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	UPF3B_ENST00000345865.2_Missense_Mutation_p.R415K|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	428	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TATTCGATCTCTCTTGACCAC	0.378																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1282-1284)aGa>aAa		UPF3 regulator of nonsense transcripts homolog B (yeast)							183.0	166.0	171.0					X																	118971739		2203	4300	6503	SO:0001583	missense	65109				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118971739C>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1283G>A	X.37:g.118971739C>T	ENSP00000276201:p.Arg428Lys					UPF3B_ENST00000345865.2_Missense_Mutation_p.R415K	p.R428K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			10	1352	-			428			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.1283G>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241854	0.22796	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.76968	-1.02;-1.06	5.77	4.9	0.64082	.	0.080622	0.85682	D	0.000000	T	0.61800	0.2376	N	0.25332	0.735	0.45541	D	0.998493	B;B	0.23128	0.08;0.048	B;B	0.18561	0.022;0.018	T	0.55655	-0.8107	10	0.05833	T	0.94	.	12.7944	0.57551	0.0:0.9202:0.0:0.0798	.	415;428	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	428;415	ENSP00000276201:R428K;ENSP00000245418:R415K	ENSP00000276201:R428K	R	-	2	0	UPF3B	118855767	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.922000	0.40045	1.207000	0.43291	0.526000	0.51066	AGA		0.378	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			35	84	0	0	0	1	0	35	84				
OR10G9	219870	broad.mit.edu	37	11	123894352	123894352	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123894352C>T	ENST00000375024.1	+	1	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L211L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTGCTTTCTCCTGATAGTGC	0.567																																						ENST00000375024.1																			1	Substitution - coding silent(1)	p.L211L(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(631-633)ctC>ctT		olfactory receptor, family 10, subfamily G, member 9							243.0	208.0	220.0					11																	123894352		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894352C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.633C>T	11.37:g.123894352C>T							p.L211L	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	633	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	211						Silent	SNP	ENST00000375024.1	37	c.633C>T	CCDS31703.1																																																																																				0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		41	66	0	0	0	1	0	41	66				
PTBP1	5725	broad.mit.edu	37	19	803562	803562	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:803562G>A	ENST00000349038.4	+	3	114	c.41G>A	c.(40-42)cGg>cAg	p.R14Q	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Splice_Site_p.R14Q|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Splice_Site_p.R14Q	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	14					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTGCAGCGGGGATCTGAC	0.632																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.e3-1		polypyrimidine tract binding protein 1							124.0	114.0	117.0					19																	803562		2203	4300	6503	SO:0001630	splice_region_variant	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803562G>A	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.40-1G>A	19.37:g.803562G>A						PTBP1_ENST00000394601.4_Splice_Site_p.R14_splice|PTBP1_ENST00000349038.4_Splice_Site_p.R14_splice|PTBP1_ENST00000350092.4_Intron	p.R14_splice	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	464	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	14					Q9BUQ0	Splice_Site	SNP	ENST00000349038.4	37	c.39_splice	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960669	0.74016	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.55234	0.53;0.55;0.87	4.2	3.16	0.36331	.	0.130124	0.49916	N	0.000140	T	0.65616	0.2708	M	0.73598	2.24	0.80722	D	1	P;D;D	0.63046	0.936;0.992;0.964	B;P;P	0.59115	0.295;0.852;0.609	T	0.69068	-0.5243	10	0.87932	D	0	-25.3583	10.9387	0.47260	0.0946:0.0:0.9054:0.0	.	14;14;14	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	Q	14	ENSP00000349428:R14Q;ENSP00000408096:R14Q;ENSP00000014112:R14Q	ENSP00000014112:R14Q	R	+	2	0	PTBP1	754562	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	9.130000	0.94437	0.903000	0.36546	-0.259000	0.10710	CGG		0.632	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1		Missense_Mutation	29	18	0	0	0	1	0	29	18				
AVPR1B	553	broad.mit.edu	37	1	206224958	206224958	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:206224958C>T	ENST00000367126.4	+	1	983	c.518C>T	c.(517-519)tCc>tTc	p.S173F	RP11-38J22.3_ENST00000425896.1_RNA	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	173					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTCATTTTTTCCCTGCGGGAG	0.652																																						ENST00000367126.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(517-519)tCc>tTc		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						36.0	39.0	38.0					1																	206224958		2199	4284	6483	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206224958C>T	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.518C>T	1.37:g.206224958C>T	ENSP00000356094:p.Ser173Phe						p.S173F	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		1	983	+			173					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.518C>T	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792704	0.90453	.	.	ENSG00000198049	ENST00000367126	T	0.73047	-0.71	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.88959	0.6579	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90729	0.4641	10	0.66056	D	0.02	-29.462	19.7287	0.96174	0.0:1.0:0.0:0.0	.	173	P47901	V1BR_HUMAN	F	173	ENSP00000356094:S173F	ENSP00000356094:S173F	S	+	2	0	AVPR1B	204391581	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	6.092000	0.71414	2.751000	0.94390	0.514000	0.50259	TCC		0.652	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		20	34	0	0	0	1	0	20	34				
SEPT8	23176	broad.mit.edu	37	5	132098220	132098220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:132098220G>A	ENST00000378719.2	-	5	889	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	SEPT8_ENST00000296873.7_Missense_Mutation_p.P218S|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378701.1_Missense_Mutation_p.P216S|SEPT8_ENST00000378721.4_Missense_Mutation_p.P216S|SEPT8_ENST00000378706.1_Missense_Mutation_p.P218S|SEPT8_ENST00000458488.2_Missense_Mutation_p.P218S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P158S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P158S	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	218	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCCGTGGGGAACTGGTAG	0.582																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(652-654)Ccc>Tcc		septin 8							128.0	126.0	127.0					5																	132098220		2097	4254	6351	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132098220G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.652C>T	5.37:g.132098220G>A	ENSP00000367991:p.Pro218Ser					SEPT8_ENST00000458488.2_Missense_Mutation_p.P218S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P158S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P158S|SEPT8_ENST00000378706.1_Missense_Mutation_p.P218S|SEPT8_ENST00000378701.1_Missense_Mutation_p.P216S|SEPT8_ENST00000378719.2_Missense_Mutation_p.P218S|SEPT8_ENST00000378721.4_Missense_Mutation_p.P216S	p.P218S	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	935	-		all_cancers(142;0.0751)|Breast(839;0.198)	218					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.652C>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968251	0.92855	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.98	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	1.0;1.0;0.986;1.0	T	0.82452	-0.0450	10	0.72032	D	0.01	.	14.9506	0.71071	0.068:0.0:0.932:0.0	.	216;216;218;218	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	S	218;216;218;158;218;158;216;218	ENSP00000367991:P218S;ENSP00000367993:P216S;ENSP00000296873:P218S;ENSP00000399840:P158S;ENSP00000367978:P218S;ENSP00000367971:P158S;ENSP00000367973:P216S;ENSP00000394766:P218S	ENSP00000296873:P218S	P	-	1	0	SEPT8	132126119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	1.540000	0.49301	0.591000	0.81541	CCC		0.582	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		17	44	0	0	0	1	0	17	44				
JAG1	182	broad.mit.edu	37	20	10625548	10625548	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:10625548G>A	ENST00000254958.5	-	18	2822	c.2307C>T	c.(2305-2307)gtC>gtT	p.V769V	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.V610V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	769	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTTCCTTGCAGACGCACGTAA	0.592									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2305-2307)gtC>gtT		jagged 1							157.0	160.0	159.0					20																	10625548		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10625548G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2307C>T	20.37:g.10625548G>A						JAG1_ENST00000423891.2_Silent_p.V610V	p.V769V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			18	2822	-			769			EGF-like 14.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2307C>T	CCDS13112.1																																																																																				0.592	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		87	124	0	0	0	1	0	87	124				
IRS4	8471	broad.mit.edu	37	X	107977792	107977792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107977792C>T	ENST00000372129.2	-	1	1859	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	595					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCCCACTTCCTGAGCCTTTG	0.537																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1783-1785)Gga>Aga		insulin receptor substrate 4							194.0	195.0	195.0					X																	107977792		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977792C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1783G>A	X.37:g.107977792C>T	ENSP00000361202:p.Gly595Arg						p.G595R	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1859	-			595						Missense_Mutation	SNP	ENST00000372129.2	37	c.1783G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557735	0.13436	.	.	ENSG00000133124	ENST00000372129	T	0.32515	1.45	4.52	1.56	0.23342	.	0.183840	0.26840	N	0.022224	T	0.24928	0.0605	M	0.63843	1.955	0.23903	N	0.99651	B	0.12013	0.005	B	0.10450	0.005	T	0.17410	-1.0370	10	0.39692	T	0.17	-4.8429	3.8415	0.08917	0.0:0.5719:0.1969:0.2312	.	595	O14654	IRS4_HUMAN	R	595	ENSP00000361202:G595R	ENSP00000361202:G595R	G	-	1	0	IRS4	107864448	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	0.976000	0.29462	0.458000	0.26988	0.600000	0.82982	GGA		0.537	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		107	195	0	0	0	1	0	107	195				
BRSK1	84446	broad.mit.edu	37	19	55820079	55820079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:55820079C>T	ENST00000309383.1	+	18	2439	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	BRSK1_ENST00000590333.1_Missense_Mutation_p.S737F|BRSK1_ENST00000326848.7_Missense_Mutation_p.S416F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	721					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GACCAGCCCTCCGTGCAGGCC	0.721																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(2161-2163)tCc>tTc		BR serine/threonine kinase 1							30.0	27.0	28.0					19																	55820079		2203	4299	6502	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55820079C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2162C>T	19.37:g.55820079C>T	ENSP00000310649:p.Ser721Phe					BRSK1_ENST00000326848.7_Missense_Mutation_p.S416F|BRSK1_ENST00000590333.1_Missense_Mutation_p.S737F	p.S721F	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	18	2439	+		Renal(1328;0.245)	721					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.2162C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	14.34	2.505361	0.44558	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73469	-0.75;1.77	4.63	4.63	0.57726	.	0.380496	0.24571	N	0.037400	T	0.65091	0.2658	L	0.36672	1.1	0.20074	N	0.999934	P;P	0.39157	0.531;0.662	B;B	0.33042	0.075;0.157	T	0.65545	-0.6142	10	0.72032	D	0.01	.	16.72	0.85408	0.0:1.0:0.0:0.0	.	721;737	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	F	721;416;416	ENSP00000310649:S721F;ENSP00000320853:S416F	ENSP00000310649:S721F	S	+	2	0	BRSK1	60511891	0.034000	0.19679	0.998000	0.56505	0.997000	0.91878	2.297000	0.43593	2.319000	0.78375	0.544000	0.68410	TCC		0.721	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		9	15	0	0	0	1	0	9	15				
IGF1R	3480	broad.mit.edu	37	15	99456351	99456351	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:99456351C>T	ENST00000268035.6	+	8	2279	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	IGF1R_ENST00000558762.1_Silent_p.L556L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	556	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACGTGGACCTCCCGCCCAACA	0.547																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1666-1668)ctC>ctT		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						85.0	70.0	75.0					15																	99456351		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99456351C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1668C>T	15.37:g.99456351C>T						IGF1R_ENST00000558762.1_Silent_p.L556L	p.L556L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		8	2279	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		556			Fibronectin type-III 1.		B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.1668C>T	CCDS10378.1																																																																																				0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		28	30	0	0	0	1	0	28	30				
ZC3H7A	29066	broad.mit.edu	37	16	11845266	11845266	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:11845266C>T	ENST00000396516.2	-	22	3020	c.2823G>A	c.(2821-2823)aaG>aaA	p.K941K	ZC3H7A_ENST00000575984.1_Silent_p.K137K|ZC3H7A_ENST00000355758.4_Silent_p.K941K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	941						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGAGCTTCATCTTTAGGGCAT	0.363																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2821-2823)aaG>aaA		zinc finger CCCH-type containing 7A							158.0	137.0	144.0					16																	11845266		2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11845266C>T	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2823G>A	16.37:g.11845266C>T						ZC3H7A_ENST00000575984.1_Silent_p.K137K|ZC3H7A_ENST00000355758.4_Silent_p.K941K	p.K941K			Q8IWR0	Z3H7A_HUMAN			22	3020	-			941					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.2823G>A	CCDS10550.1																																																																																				0.363	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		23	32	0	0	0	1	0	23	32				
TBC1D25	4943	broad.mit.edu	37	X	48418193	48418193	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48418193C>T	ENST00000376771.4	+	6	1238	c.897C>T	c.(895-897)caC>caT	p.H299H	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Silent_p.H45H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACCGGGCCCACCCCTACTATG	0.637																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(895-897)caC>caT		TBC1 domain family, member 25							37.0	32.0	34.0					X																	48418193		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48418193C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.897C>T	X.37:g.48418193C>T						TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.H45H	p.H299H	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1238	+			299			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.897C>T	CCDS35242.1																																																																																				0.637	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		13	38	0	0	0	1	0	13	38				
UBXN8	7993	broad.mit.edu	37	8	30620834	30620834	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:30620834G>A	ENST00000519246.1	+	0	814							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						ATGTCCTGAGGAGAAGGTTTT	0.408																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8							206.0	187.0	193.0					8																	30620834		1879	4115	5994			7993				single fertilization			g.chr8:30620834G>A	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30620834G>A										O00124	UBXN8_HUMAN			0	814	+								Q7Z6F2	RNA	SNP	ENST00000519246.1	37																																																																																						0.408	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		11	30	0	0	0	1	0	11	30				
PCDHGA2	56113	broad.mit.edu	37	5	140718947	140718947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140718947G>A	ENST00000394576.2	+	1	409	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTAGAGGAACTGGAGCT	0.418																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(409-411)Gaa>Aaa									71.0	72.0	71.0					5																	140718947		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718947G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.409G>A	5.37:g.140718947G>A	ENSP00000378077:p.Glu137Lys					PCDHGA1_ENST00000517417.1_Intron	p.E137K	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	409	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.409G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.149636	0.37923	.	.	ENSG00000081853	ENST00000394576	T	0.20881	2.04	5.26	4.38	0.52667	Cadherin (2);Cadherin-like (1);	0.175858	0.26539	U	0.023806	T	0.23611	0.0571	L	0.58583	1.82	0.09310	N	1	B;B	0.23490	0.086;0.027	B;B	0.32762	0.152;0.033	T	0.10753	-1.0616	10	0.46703	T	0.11	.	9.3361	0.38051	0.2143:0.0:0.7857:0.0	.	137;137	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	137	ENSP00000378077:E137K	ENSP00000378077:E137K	E	+	1	0	PCDHGA2	140699131	0.000000	0.05858	0.997000	0.53966	0.896000	0.52359	0.251000	0.18257	2.629000	0.89072	0.655000	0.94253	GAA		0.418	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		30	49	0	0	0	1	0	30	49				
TMEM168	64418	broad.mit.edu	37	7	112424024	112424024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:112424024C>T	ENST00000312814.6	-	2	1417	c.857G>A	c.(856-858)aGa>aAa	p.R286K	TMEM168_ENST00000454074.1_Missense_Mutation_p.R286K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	286						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GTGAGTGTCTCTAAGTTTGAA	0.343																																						ENST00000312814.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(856-858)aGa>aAa		transmembrane protein 168							126.0	144.0	138.0					7																	112424024		2203	4297	6500	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424024C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.857G>A	7.37:g.112424024C>T	ENSP00000323068:p.Arg286Lys					TMEM168_ENST00000454074.1_Missense_Mutation_p.R286K	p.R286K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1417	-			286					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.857G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	9.537	1.112399	0.20795	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.229134	0.52532	D	0.000066	T	0.56307	0.1976	L	0.34521	1.04	0.80722	D	1	B	0.18310	0.027	B	0.17433	0.018	T	0.46205	-0.9208	9	0.38643	T	0.18	-23.5488	20.6397	0.99537	0.0:1.0:0.0:0.0	.	286	Q9H0V1	TM168_HUMAN	K	286	.	ENSP00000323068:R286K	R	-	2	0	TMEM168	112211260	0.172000	0.23043	1.000000	0.80357	0.998000	0.95712	3.314000	0.51943	2.880000	0.98712	0.650000	0.86243	AGA		0.343	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		85	172	0	0	0	1	0	85	172				
OLFM3	118427	broad.mit.edu	37	1	102270264	102270264	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:102270264G>A	ENST00000338858.5	-	6	966	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.L303F			Q96PB7	NOE3_HUMAN	olfactomedin 3	323	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CGTTGGGCAAGCACTCTCCCC	0.438																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(907-909)Ctt>Ttt		olfactomedin 3							105.0	98.0	100.0					1																	102270264		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270264G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.967C>T	1.37:g.102270264G>A	ENSP00000345192:p.Leu323Phe					OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L323F|OLFM3_ENST00000462354.1_5'UTR	p.L303F	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1120	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	323			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.907C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.197215	0.38806	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.91124	-2.79;-2.79	5.53	5.53	0.82687	Olfactomedin-like (3);	0.119590	0.56097	D	0.000023	D	0.93983	0.8073	M	0.75447	2.3	0.80722	D	1	P;P	0.49447	0.924;0.624	P;B	0.60609	0.877;0.428	D	0.93173	0.6568	10	0.48119	T	0.1	.	19.4576	0.94900	0.0:0.0:1.0:0.0	.	303;323	Q5T3V6;Q96PB7	.;NOE3_HUMAN	F	174;303;323	ENSP00000359121:L303F;ENSP00000345192:L323F	ENSP00000345192:L323F	L	-	1	0	OLFM3	102042852	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	2.456000	0.44997	2.613000	0.88420	0.650000	0.86243	CTT		0.438	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			19	33	0	0	0	1	0	19	33				
SMARCA4	6597	broad.mit.edu	37	19	11152077	11152077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:11152077C>T	ENST00000429416.3	+	31	4546	c.4265C>T	c.(4264-4266)tCc>tTc	p.S1422F	SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1392F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1392F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1389F|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1454F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1422F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1389F	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1422					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGGCTCCTCCACCCCGACC	0.647			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4360-4362)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							34.0	40.0	38.0					19																	11152077		2203	4299	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152077C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4265C>T	19.37:g.11152077C>T	ENSP00000395654:p.Ser1422Phe					SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1392F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1392F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1389F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1422F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1389F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1422F	p.S1454F	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			31	4645	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1422					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4361C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178720	0.57692	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.87887	-2.31;-2.25;-2.31;-2.25;-2.26;-2.27	4.44	4.44	0.53790	.	0.303028	0.31612	N	0.007351	T	0.72787	0.3504	N	0.08118	0	0.39087	D	0.961022	B;B;B;P;B;P	0.44578	0.0;0.0;0.0;0.838;0.41;0.553	B;B;B;B;B;B	0.39299	0.001;0.001;0.001;0.296;0.048;0.157	T	0.77262	-0.2653	10	0.49607	T	0.09	-32.917	9.7398	0.40411	0.0:0.9028:0.0:0.0971	.	1392;1389;1389;1454;1392;1422	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	F	1422;1454;1456;1422;1389;1389;1392;1392	ENSP00000395654:S1422F;ENSP00000350720:S1454F;ENSP00000343896:S1422F;ENSP00000392837:S1389F;ENSP00000397783:S1392F;ENSP00000414727:S1392F	ENSP00000343896:S1422F	S	+	2	0	SMARCA4	11013077	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.494000	0.66905	2.308000	0.77769	0.467000	0.42956	TCC		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		19	11	0	0	0	1	0	19	11				
ANGPTL5	253935	broad.mit.edu	37	11	101776514	101776514	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:101776514C>T	ENST00000334289.3	-	4	901	c.306G>A	c.(304-306)atG>atA	p.M102I		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	102						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTTGCTCATCCATCATATTCC	0.303																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(304-306)atG>atA		angiopoietin-like 5							145.0	140.0	142.0					11																	101776514		2202	4297	6499	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101776514C>T	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.306G>A	11.37:g.101776514C>T	ENSP00000335255:p.Met102Ile						p.M102I	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	4	901	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	102					A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.306G>A	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569177	0.45798	.	.	ENSG00000187151	ENST00000334289;ENST00000534527	T;T	0.55413	0.52;0.69	5.14	5.14	0.70334	.	0.074183	0.85682	D	0.000000	T	0.48333	0.1494	L	0.50333	1.59	0.39913	D	0.974053	B	0.27229	0.172	B	0.16289	0.015	T	0.45833	-0.9234	10	0.33940	T	0.23	.	18.5846	0.91183	0.0:1.0:0.0:0.0	.	102	Q86XS5	ANGL5_HUMAN	I	102	ENSP00000335255:M102I;ENSP00000433562:M102I	ENSP00000335255:M102I	M	-	3	0	ANGPTL5	101281724	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.880000	0.48530	2.558000	0.86282	0.591000	0.81541	ATG		0.303	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		12	17	0	0	0	1	0	12	17				
ANKRD33	341405	broad.mit.edu	37	12	52283227	52283227	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:52283227G>A	ENST00000340970.4	+	4	564	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	ANKRD33_ENST00000301190.6_Missense_Mutation_p.G200R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	65					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GGACCAGCGGGGGCTCACGGC	0.657																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(598-600)Ggg>Agg		ankyrin repeat domain 33							48.0	47.0	48.0					12																	52283227		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52283227G>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.193G>A	12.37:g.52283227G>A	ENSP00000344690:p.Gly65Arg					ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R	p.G200R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	4	825	+			65					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.598G>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915725	0.92178	.	.	ENSG00000167612	ENST00000301190;ENST00000340970	T;T	0.79247	-1.25;-1.25	4.68	4.68	0.58851	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90300	0.4329	10	0.87932	D	0	0.4596	14.9705	0.71229	0.0:0.0:1.0:0.0	.	65;200	Q7Z3H0;Q7Z3H0-2	ANR33_HUMAN;.	R	200;65	ENSP00000301190:G200R;ENSP00000344690:G65R	ENSP00000301190:G200R	G	+	1	0	ANKRD33	50569494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.487000	0.90454	2.594000	0.87642	0.655000	0.94253	GGG		0.657	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		25	37	0	0	0	1	0	25	37				
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:40675132G>A	ENST00000249776.8	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000416151.2_Silent_p.R32R|KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000608100.1_5'Flank	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577																																						ENST00000416151.2																			0											c.(94-96)cgG>cgA		kinetochore-localized astrin/SPAG5 binding protein							47.0	52.0	50.0					15																	40675132		1854	4099	5953	SO:0001819	synonymous_variant	90417							g.chr15:40675132G>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.96G>A	15.37:g.40675132G>A						KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R	p.R32R	NM_001142761.1	NP_001136233.1					1	211	+									Silent	SNP	ENST00000249776.8	37	c.96G>A	CCDS42021.1																																																																																				0.577	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		34	38	0	0	0	1	0	34	38				
GGN	199720	broad.mit.edu	37	19	38876799	38876799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:38876799C>T	ENST00000334928.6	-	3	1235	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCCGCCAGCCCCGTTGAAGCG	0.697																																						ENST00000334928.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1102-1104)gGg>gAg		gametogenetin							26.0	29.0	28.0					19																	38876799		2196	4296	6492	SO:0001583	missense	199720				cell differentiation|multicellular organismal development|spermatogenesis			g.chr19:38876799C>T	AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1103G>A	19.37:g.38876799C>T	ENSP00000334940:p.Gly368Glu					AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	p.G368E	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	1235	-	all_cancers(60;3.4e-06)		368			Interaction with GGNBP1 (By similarity).|Pro-rich.		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	ENST00000334928.6	37	c.1103G>A	CCDS12516.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310143	0.40895	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	2.24	0.28232	.	0.207411	0.23943	N	0.043023	T	0.45377	0.1339	L	0.29908	0.895	0.30143	N	0.80374	D;D	0.76494	0.996;0.999	P;D	0.66351	0.904;0.943	T	0.42310	-0.9459	9	0.62326	D	0.03	-7.5517	8.0462	0.30551	0.0:0.7478:0.2522:0.0	.	285;368	Q86UU5-2;Q86UU5	.;GGN_HUMAN	E	368	.	ENSP00000334940:G368E	G	-	2	0	GGN	43568639	0.019000	0.18553	0.834000	0.33040	0.823000	0.46562	0.751000	0.26348	0.546000	0.28920	0.462000	0.41574	GGG		0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459205.1	NM_152657		3	9	0	0	0	1	0	3	9				
GRIK1	2897	broad.mit.edu	37	21	31015183	31015183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:31015183C>T	ENST00000399907.1	-	7	1472	c.1061G>A	c.(1060-1062)tGg>tAg	p.W354*	GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399914.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	354					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCGAGGCGCCATGGCTTATG	0.582																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1060-1062)tGg>tAg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						104.0	83.0	90.0					21																	31015183		2203	4300	6503	SO:0001587	stop_gained	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31015183C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1061G>A	21.37:g.31015183C>T	ENSP00000382791:p.Trp354*					GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354*	p.W354*			P39086	GRIK1_HUMAN			7	1582	-			354					Q13001|Q86SU9	Nonsense_Mutation	SNP	ENST00000399907.1	37	c.1061G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	38	6.895316	0.97916	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.478	0.90800	0.0:1.0:0.0:0.0	.	.	.	.	X	354;354;354;354;354;298;354;354;354;354	.	ENSP00000311646:W354X	W	-	2	0	GRIK1	29937054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.251000	0.78297	2.688000	0.91661	0.655000	0.94253	TGG		0.582	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			30	14	0	0	0	1	0	30	14				
RBM5	10181	broad.mit.edu	37	3	50131164	50131164	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:50131164A>T	ENST00000347869.3	+	4	370	c.195A>T	c.(193-195)gaA>gaT	p.E65D	RBM5_ENST00000469838.1_Missense_Mutation_p.E65D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	65					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGAGCGTGAAAGAAGGAACA	0.443																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(193-195)gaA>gaT		RNA binding motif protein 5							280.0	223.0	242.0					3																	50131164		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50131164A>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.195A>T	3.37:g.50131164A>T	ENSP00000343054:p.Glu65Asp					RBM5_ENST00000469838.1_Missense_Mutation_p.E65D	p.E65D	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	370	+			65					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.195A>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415320	0.62511	.	.	ENSG00000003756	ENST00000347869;ENST00000469838;ENST00000404526;ENST00000441305;ENST00000437500;ENST00000417905;ENST00000543047;ENST00000539538	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.88	4.75	0.60458	.	0.047315	0.85682	D	0.000000	T	0.24547	0.0595	N	0.25647	0.755	0.43879	D	0.99649	P;P	0.50819	0.635;0.939	B;B	0.39660	0.122;0.306	T	0.02457	-1.1156	9	.	.	.	-21.1462	5.457	0.16596	0.762:0.0:0.238:0.0	.	65;65	P52756;E1CJT4	RBM5_HUMAN;.	D	65;65;65;65;65;65;64;64	ENSP00000343054:E65D;ENSP00000419534:E65D;ENSP00000390711:E65D;ENSP00000406119:E65D	.	E	+	3	2	RBM5	50106168	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.942000	0.56614	2.258000	0.74832	0.519000	0.50382	GAA		0.443	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		44	88	0	0	0	1	0	44	88				
ZSCAN21	7589	broad.mit.edu	37	7	99654655	99654655	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:99654655C>T	ENST00000292450.4	+	2	190	c.26C>T	c.(25-27)gCc>gTc	p.A9V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9V|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	9					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CTAGGCATGGCCCCAGTTCTG	0.527																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(25-27)gCc>gTc		zinc finger and SCAN domain containing 21							151.0	164.0	160.0					7																	99654655		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654655C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.26C>T	7.37:g.99654655C>T	ENSP00000292450:p.Ala9Val					ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9V|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9V|ZSCAN21_ENST00000477297.1_3'UTR	p.A9V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	190	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		9					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.26C>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271811	0.59649	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.06608	4.07;3.28;4.07;4.09	5.43	4.55	0.56014	.	0.191196	0.25975	N	0.027116	T	0.08447	0.0210	L	0.27053	0.805	0.28172	N	0.928512	B;P	0.51537	0.084;0.946	B;P	0.50270	0.031;0.636	T	0.13899	-1.0492	10	0.31617	T	0.26	.	12.6085	0.56538	0.0:0.8335:0.1665:0.0	.	9;9	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	V	9	ENSP00000441212:A9V;ENSP00000292450:A9V;ENSP00000390960:A9V;ENSP00000404207:A9V	ENSP00000292450:A9V	A	+	2	0	ZSCAN21	99492591	0.933000	0.31639	0.990000	0.47175	0.492000	0.33523	2.755000	0.47540	1.428000	0.47296	-0.165000	0.13383	GCC		0.527	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		72	171	0	0	0	1	0	72	171				
SEC24C	9632	broad.mit.edu	37	10	75530092	75530092	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:75530092G>A	ENST00000339365.2	+	22	3079	c.2917G>A	c.(2917-2919)Gag>Aag	p.E973K	SEC24C_ENST00000540668.1_Missense_Mutation_p.E221K|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.E973K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E221K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.E854K|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	973					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGCCTCTGAAGAGCGTCTAAG	0.493																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2917-2919)Gag>Aag		SEC24 family member C							230.0	236.0	234.0					10																	75530092		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530092G>A	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2917G>A	10.37:g.75530092G>A	ENSP00000343405:p.Glu973Lys					SEC24C_ENST00000540668.1_Missense_Mutation_p.E221K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E221K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.E854K|SEC24C_ENST00000345254.4_Missense_Mutation_p.E973K	p.E973K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			22	3079	+	Prostate(51;0.0112)		973					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2917G>A	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031296	0.93575	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.81	5.81	0.92471	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.78456	2.415	0.80722	D	1	P;P	0.43938	0.484;0.822	B;P	0.46585	0.144;0.521	T	0.55866	-0.8073	10	0.62326	D	0.03	-19.1857	20.0702	0.97718	0.0:0.0:1.0:0.0	.	854;973	E7EP00;P53992	.;SC24C_HUMAN	K	221;973;221;973;854	ENSP00000446174:E221K;ENSP00000321845:E973K;ENSP00000445023:E221K;ENSP00000343405:E973K;ENSP00000402913:E854K	ENSP00000343405:E973K	E	+	1	0	SEC24C	75200098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.701000	0.98710	2.733000	0.93635	0.655000	0.94253	GAG		0.493	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			118	152	0	0	0	1	0	118	152				
ZNF671	79891	broad.mit.edu	37	19	58232399	58232399	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58232399T>C	ENST00000317398.6	-	4	1150	c.1055A>G	c.(1054-1056)cAa>cGa	p.Q352R	ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q254R|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCCGGAGATTTGTCTAAAGAA	0.443																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1054-1056)cAa>cGa		zinc finger protein 671							74.0	69.0	71.0					19																	58232399		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232399T>C		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1055A>G	19.37:g.58232399T>C	ENSP00000321848:p.Gln352Arg					ZNF671_ENST00000335820.3_Missense_Mutation_p.Q254R|AC003006.7_ENST00000599221.1_Intron	p.Q352R	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1150	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	352					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1055A>G	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323168	0.41096	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.14766	2.48;2.48	1.88	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.20767	0.031	T	0.41787	-0.9489	9	0.22109	T	0.4	.	5.5367	0.17016	0.0:0.5674:0.2006:0.232	.	352	Q8TAW3	ZN671_HUMAN	R	352;254	ENSP00000321848:Q352R;ENSP00000338670:Q254R	ENSP00000321848:Q352R	Q	-	2	0	ZNF671	62924211	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	-2.583000	0.00904	-0.809000	0.04381	0.383000	0.25322	CAA		0.443	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		25	43	0	0	0	1	0	25	43				
OR51A7	119687	broad.mit.edu	37	11	4928829	4928829	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:4928829C>T	ENST00000359350.4	+	1	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S77Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTCTCCTCCCTTCCTACC	0.453																																						ENST00000359350.4																			1	Substitution - Missense(1)	p.S77Y(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(229-231)tCc>tTc		olfactory receptor, family 51, subfamily A, member 7							158.0	137.0	144.0					11																	4928829		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928829C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.230C>T	11.37:g.4928829C>T	ENSP00000352305:p.Ser77Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S77F	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	230	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	77					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.230C>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815557	0.32145	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00449	7.37	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	T	0.00552	0.0018	L	0.55990	1.75	0.09310	N	1	P	0.35944	0.529	B	0.40477	0.33	T	0.53330	-0.8454	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	77	Q8NH64	O51A7_HUMAN	F	77;77;66	ENSP00000352305:S77F	ENSP00000352305:S77F	S	+	2	0	OR51A7	4885405	0.000000	0.05858	0.454000	0.27019	0.730000	0.41778	0.196000	0.17176	2.596000	0.87737	0.655000	0.94253	TCC		0.453	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		41	58	0	0	0	1	0	41	58				
CDC34	997	broad.mit.edu	37	19	536323	536323	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:536323C>A	ENST00000215574.4	+	3	563	c.345C>A	c.(343-345)aaC>aaA	p.N115K		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	115					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGTGGAACCCCACGCAGA	0.642																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(343-345)aaC>aaA		cell division cycle 34							53.0	56.0	55.0					19																	536323		2194	4298	6492	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:536323C>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.345C>A	19.37:g.536323C>A	ENSP00000215574:p.Asn115Lys						p.N115K	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	563	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	115					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.345C>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451081	0.43531	.	.	ENSG00000099804	ENST00000215574	T	0.37058	1.22	5.19	3.08	0.35506	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	N	0.25380	0.74	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.33979	-0.9847	10	0.87932	D	0	-15.3595	7.5898	0.28015	0.0:0.7417:0.0:0.2583	.	115	P49427	UB2R1_HUMAN	K	115	ENSP00000215574:N115K	ENSP00000215574:N115K	N	+	3	2	CDC34	487323	0.997000	0.39634	1.000000	0.80357	0.191000	0.23601	0.472000	0.22116	1.197000	0.43143	-0.142000	0.14014	AAC		0.642	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		7	4	1	0	2.17888e-05	1	2.18805e-05	7	4				
CLTC	1213	broad.mit.edu	37	17	57760370	57760370	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:57760370T>G	ENST00000269122.3	+	24	4142	c.3868T>G	c.(3868-3870)Tat>Gat	p.Y1290D	CLTC_ENST00000393043.1_Missense_Mutation_p.Y1290D|CLTC_ENST00000579456.1_Missense_Mutation_p.Y227D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCAACTACTATCAGGTATT	0.368			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(3868-3870)Tat>Gat		clathrin, heavy chain (Hc)							126.0	119.0	121.0					17																	57760370		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57760370T>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3868T>G	17.37:g.57760370T>G	ENSP00000269122:p.Tyr1290Asp					CLTC_ENST00000393043.1_Missense_Mutation_p.Y1290D|CLTC_ENST00000579456.1_Missense_Mutation_p.Y227D	p.Y1290D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			24	4142	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1290			Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.3868T>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770761	0.69992	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.28454	1.61;1.61	5.59	5.59	0.84812	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.114265	0.64402	D	0.000008	T	0.66458	0.2791	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.76637	-0.2886	10	0.87932	D	0	-31.1671	15.7603	0.78073	0.0:0.0:0.0:1.0	.	1290;1290	Q00610;Q00610-2	CLH1_HUMAN;.	D	1290	ENSP00000269122:Y1290D;ENSP00000376763:Y1290D	ENSP00000269122:Y1290D	Y	+	1	0	CLTC	55115152	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.040000	0.89188	2.132000	0.65825	0.379000	0.24179	TAT		0.368	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		33	45	0	0	0	1	0	33	45				
TEX2	55852	broad.mit.edu	37	17	62232279	62232279	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:62232279G>A	ENST00000583097.1	-	9	3025	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S	TEX2_ENST00000581812.1_5'UTR|TEX2_ENST00000258991.3_Silent_p.S958S|TEX2_ENST00000584379.1_Silent_p.S951S			Q8IWB9	TEX2_HUMAN	testis expressed 2	951					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGCCAGCGCTGGAGGATTCCT	0.627																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2872-2874)tcC>tcT		testis expressed 2							56.0	51.0	53.0					17																	62232279		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62232279G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2853C>T	17.37:g.62232279G>A						TEX2_ENST00000584379.1_Silent_p.S951S|TEX2_ENST00000583097.1_Silent_p.S951S|TEX2_ENST00000581812.1_5'UTR	p.S958S			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	9	2958	-			951					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2874C>T																																																																																					0.627	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		24	36	0	0	0	1	0	24	36				
TGM3	7053	broad.mit.edu	37	20	2308919	2308919	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:2308919T>A	ENST00000381458.5	+	9	1304	c.1241T>A	c.(1240-1242)gTg>gAg	p.V414E		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	414					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AAGAATTCCGTGAACAGTCAC	0.542																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1240-1242)gTg>gAg		transglutaminase 3	L-Glutamine(DB00130)						135.0	101.0	112.0					20																	2308919		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308919T>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1241T>A	20.37:g.2308919T>A	ENSP00000370867:p.Val414Glu						p.V414E	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			9	1304	+			414					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1241T>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	T	2.336	-0.352242	0.05173	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.81247	-1.47	5.24	1.67	0.24075	.	1.750060	0.03211	N	0.176259	T	0.73385	0.3580	L	0.61218	1.895	0.09310	N	1	B	0.17038	0.02	B	0.09377	0.004	T	0.50233	-0.8852	10	0.02654	T	1	.	4.359	0.11192	0.0:0.2066:0.1942:0.5991	.	414	Q08188	TGM3_HUMAN	E	414	ENSP00000370867:V414E	ENSP00000370867:V414E	V	+	2	0	TGM3	2256919	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.448000	0.06820	0.123000	0.18342	0.533000	0.62120	GTG		0.542	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		34	38	0	0	0	1	0	34	38				
BCL2L14	79370	broad.mit.edu	37	12	12232649	12232649	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:12232649T>C	ENST00000308721.5	+	2	616	c.410T>C	c.(409-411)gTg>gCg	p.V137A	BCL2L14_ENST00000396367.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000589718.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000266434.4_Missense_Mutation_p.V137A|BCL2L14_ENST00000586576.1_Missense_Mutation_p.V170A|BCL2L14_ENST00000396369.1_Missense_Mutation_p.V137A	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	137					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTTCTAACGTGGAGCAGTGC	0.522																																						ENST00000266434.4																			0				large_intestine(1)|lung(2)|skin(3)	6						c.(409-411)gTg>gCg		BCL2-like 14 (apoptosis facilitator)							103.0	99.0	101.0					12																	12232649		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232649T>C	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.410T>C	12.37:g.12232649T>C	ENSP00000309132:p.Val137Ala					BCL2L14_ENST00000586576.1_Missense_Mutation_p.V170A|BCL2L14_ENST00000308721.5_Missense_Mutation_p.V137A|BCL2L14_ENST00000396369.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000589718.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000396367.1_Missense_Mutation_p.V137A	p.V137A	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	605	+		Prostate(47;0.0872)	137					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.410T>C	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314951	0.23908	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	3.81	0.0815	0.14425	.	0.842297	0.10089	N	0.717348	T	0.30198	0.0757	M	0.65975	2.015	0.09310	N	1	B;P	0.37663	0.301;0.604	B;B	0.35182	0.056;0.197	T	0.21211	-1.0252	8	.	.	.	-6.7236	2.9891	0.05978	0.3709:0.1096:0.0:0.5196	.	137;137	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	A	137	.	.	V	+	2	0	BCL2L14	12123916	0.097000	0.21791	0.047000	0.18901	0.000000	0.00434	0.061000	0.14366	0.011000	0.14865	-1.729000	0.00701	GTG		0.522	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		45	85	0	0	0	1	0	45	85				
DUSP27	92235	broad.mit.edu	37	1	167095284	167095284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:167095284G>A	ENST00000361200.2	+	6	1082	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306R|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	306					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGCATGCTCGGGGCCAGAGT	0.657																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(916-918)Ggg>Agg		dual specificity phosphatase 27 (putative)																																				SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095284G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.916G>A	1.37:g.167095284G>A	ENSP00000354483:p.Gly306Arg					DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306R	p.G306R			Q5VZP5	DUS27_HUMAN			6	1082	+			306					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.916G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539108	0.45176	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03441	3.93;3.93;3.93	4.6	2.65	0.31530	.	21.334100	0.00166	N	0.000000	T	0.08670	0.0215	M	0.69823	2.125	0.39662	D	0.970623	D	0.89917	1.0	P	0.62184	0.899	T	0.04915	-1.0918	10	0.72032	D	0.01	-28.9137	9.8321	0.40948	0.0769:0.1404:0.7827:0.0	.	306	Q5VZP5	DUS27_HUMAN	R	306	ENSP00000354483:G306R;ENSP00000271385:G306R;ENSP00000404874:G306R	ENSP00000271385:G306R	G	+	1	0	DUSP27	165361908	1.000000	0.71417	0.004000	0.12327	0.120000	0.20174	4.335000	0.59298	0.618000	0.30179	-0.271000	0.10264	GGG		0.657	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		6	14	0	0	0	1	0	6	14				
NCKAP5	344148	broad.mit.edu	37	2	133486462	133486462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:133486462C>T	ENST00000409261.1	-	18	5880	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E	NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E|NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1836										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAGCATATCCGAATGATGA	0.542																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(5506-5508)gGa>gAa		NCK-associated protein 5							205.0	210.0	208.0					2																	133486462		2000	4166	6166	SO:0001583	missense	344148						protein binding	g.chr2:133486462C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5507G>A	2.37:g.133486462C>T	ENSP00000387128:p.Gly1836Glu					NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E	p.G1836E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			18	5880	-			1836					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5507G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263337	0.01445	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.38887	3.13;1.11;3.13;1.11	4.55	2.23	0.28157	.	0.615614	0.11854	N	0.523056	T	0.13243	0.0321	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30995	-0.9959	10	0.02654	T	1	.	7.1415	0.25558	0.0:0.1819:0.0:0.8181	.	517;1836	O14513-2;O14513	.;NCKP5_HUMAN	E	1836;517;1836;517;517	ENSP00000387128:G1836E;ENSP00000386952:G517E;ENSP00000380603:G1836E;ENSP00000385692:G517E	ENSP00000380603:G1836E	G	-	2	0	NCKAP5	133202932	0.007000	0.16637	0.032000	0.17829	0.052000	0.14988	1.666000	0.37460	0.511000	0.28236	-0.469000	0.05056	GGA		0.542	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		89	137	0	0	0	1	0	89	137				
CDH4	1002	broad.mit.edu	37	20	60498648	60498648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:60498648C>T	ENST00000360469.5	+	10	1602	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	CDH4_ENST00000543233.1_Missense_Mutation_p.P431L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AACGAGGCTCCCTACTTCCCC	0.622																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1513-1515)cCc>cTc		cadherin 4, type 1, R-cadherin (retinal)							82.0	71.0	75.0					20																	60498648		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498648C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1514C>T	20.37:g.60498648C>T	ENSP00000353656:p.Pro505Leu					CDH4_ENST00000543233.1_Missense_Mutation_p.P431L	p.P505L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1602	+			505			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1514C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963927	0.92791	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.84800	-1.9;-1.9	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	H	0.98901	4.365	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.98096	1.0412	9	.	.	.	.	17.6758	0.88230	0.0:1.0:0.0:0.0	.	505	P55283	CADH4_HUMAN	L	505;413;431	ENSP00000353656:P505L;ENSP00000443301:P431L	.	P	+	2	0	CDH4	59932043	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.535000	0.82014	2.162000	0.67917	0.543000	0.68304	CCC		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		8	24	0	0	0	1	0	8	24				
NRXN1	9378	broad.mit.edu	37	2	51255103	51255103	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:51255103G>A	ENST00000406316.2	-	2	1785	c.309C>T	c.(307-309)ctC>ctT	p.L103L	NRXN1_ENST00000405472.3_Silent_p.L103L|NRXN1_ENST00000406859.3_Silent_p.L103L|NRXN1_ENST00000402717.3_Silent_p.L103L|NRXN1_ENST00000401669.2_Silent_p.L103L|NRXN1_ENST00000404971.1_Silent_p.L103L|NRXN1_ENST00000405581.1_Silent_p.L103L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	103	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTCGGCCAGGAGCGTCGCAG	0.662																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(307-309)ctC>ctT		neurexin 1							19.0	23.0	22.0					2																	51255103		2048	4187	6235	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51255103G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.309C>T	2.37:g.51255103G>A						NRXN1_ENST00000405472.3_Silent_p.L103L|NRXN1_ENST00000401669.2_Silent_p.L103L|NRXN1_ENST00000405581.1_Silent_p.L103L|NRXN1_ENST00000402717.3_Silent_p.L103L|NRXN1_ENST00000406859.3_Silent_p.L103L|NRXN1_ENST00000406316.2_Silent_p.L103L	p.L103L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1648	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	103			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.309C>T	CCDS54360.1																																																																																				0.662	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	17	0	0	0	1	0	11	17				
ZNF569	148266	broad.mit.edu	37	19	37904541	37904541	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:37904541G>A	ENST00000316950.6	-	6	1576	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZNF569_ENST00000392149.2_Missense_Mutation_p.S340F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S181F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	340					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAGCAAGGGATGCAATTCG	0.388																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1018-1020)tCc>tTc		zinc finger protein 569							122.0	118.0	119.0					19																	37904541		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904541G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1019C>T	19.37:g.37904541G>A	ENSP00000325018:p.Ser340Phe					ZNF569_ENST00000392149.2_Missense_Mutation_p.S340F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S181F	p.S340F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1576	-			340					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1019C>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775557	0.31411	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.07567	3.18;3.18	3.97	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.214975	0.23768	N	0.044760	T	0.09113	0.0225	M	0.64676	1.99	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.17433	0.018;0.012	T	0.22871	-1.0204	10	0.59425	D	0.04	.	5.5064	0.16856	0.0992:0.0:0.4278:0.473	.	181;340	Q17RR6;Q5MCW4	.;ZN569_HUMAN	F	340;181	ENSP00000325018:S340F;ENSP00000375993:S181F	ENSP00000325018:S340F	S	-	2	0	ZNF569	42596381	0.000000	0.05858	0.342000	0.25602	0.962000	0.63368	-0.331000	0.07914	0.410000	0.25675	0.655000	0.94253	TCC		0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		44	84	0	0	0	1	0	44	84				
CDH10	1008	broad.mit.edu	37	5	24488040	24488040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488040C>T	ENST00000264463.4	-	12	2606	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	700					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTAGGAGTCCTCCGAGGAAT	0.493										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2098-2100)aGg>aAg		cadherin 10, type 2 (T2-cadherin)							77.0	83.0	81.0					5																	24488040		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488040C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2099G>A	5.37:g.24488040C>T	ENSP00000264463:p.Arg700Lys	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.R700K	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2606	-			700					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2099G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758718	0.49468	.	.	ENSG00000040731	ENST00000264463	T	0.75938	-0.98	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.092335	0.64402	D	0.000002	T	0.68559	0.3014	L	0.38733	1.17	0.37896	D	0.930871	B	0.11235	0.004	B	0.24006	0.05	T	0.64863	-0.6307	10	0.30854	T	0.27	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	700	Q9Y6N8	CAD10_HUMAN	K	700	ENSP00000264463:R700K	ENSP00000264463:R700K	R	-	2	0	CDH10	24523797	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.888000	0.69758	2.580000	0.87095	0.655000	0.94253	AGG		0.493	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		33	43	0	0	0	1	0	33	43				
OR56B4	196335	broad.mit.edu	37	11	6129110	6129110	+	Silent	SNP	C	C	T	rs142825875		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:6129110C>T	ENST00000316529.3	+	1	197	c.102C>T	c.(100-102)tcC>tcT	p.S34S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGGCTCTCCCTGCCCCTGA	0.502																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(100-102)tcC>tcT		olfactory receptor, family 56, subfamily B, member 4							82.0	73.0	76.0					11																	6129110		2201	4296	6497	SO:0001819	synonymous_variant	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129110C>T	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.102C>T	11.37:g.6129110C>T							p.S34S	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	197	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	34					Q6IFD7	Silent	SNP	ENST00000316529.3	37	c.102C>T	CCDS31406.1																																																																																				0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		22	35	0	0	0	1	0	22	35				
CCDC105	126402	broad.mit.edu	37	19	15124552	15124552	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:15124552G>A	ENST00000292574.3	+	2	721	c.639G>A	c.(637-639)atG>atA	p.M213I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	213						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAGGAAAATGGAGAGAGATA	0.498																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(637-639)atG>atA		coiled-coil domain containing 105							74.0	68.0	70.0					19																	15124552		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15124552G>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.639G>A	19.37:g.15124552G>A	ENSP00000292574:p.Met213Ile						p.M213I	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			2	721	+			213					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.639G>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095031	0.20471	.	.	ENSG00000160994	ENST00000292574	T	0.02525	4.26	3.82	2.78	0.32641	.	0.433802	0.20332	N	0.094409	T	0.04588	0.0125	M	0.65975	2.015	0.24126	N	0.995788	B	0.29481	0.245	B	0.31946	0.138	T	0.25398	-1.0133	10	0.54805	T	0.06	-14.9644	7.0485	0.25059	0.1257:0.0:0.8743:0.0	.	213	Q8IYK2	CC105_HUMAN	I	213	ENSP00000292574:M213I	ENSP00000292574:M213I	M	+	3	0	CCDC105	14985552	1.000000	0.71417	0.970000	0.41538	0.406000	0.30931	3.086000	0.50159	0.825000	0.34637	-0.339000	0.08088	ATG		0.498	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		8	20	0	0	0	1	0	8	20				
CYFIP1	23191	broad.mit.edu	37	15	22990141	22990141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:22990141C>T	ENST00000313077.7	+	24	2886	c.2761C>T	c.(2761-2763)Ctc>Ttc	p.L921F	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L921F|CYFIP1_ENST00000435939.2_Missense_Mutation_p.L490F	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CTGCCGGCTTCTCGGCTACCA	0.557																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2761-2763)Ctc>Ttc		cytoplasmic FMR1 interacting protein 1							91.0	86.0	88.0					15																	22990141		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22990141C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2761C>T	15.37:g.22990141C>T	ENSP00000324549:p.Leu921Phe					CYFIP1_ENST00000560848.1_Missense_Mutation_p.L921F|CYFIP1_ENST00000435939.2_Missense_Mutation_p.L490F	p.L921F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	24	2886	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	921						Missense_Mutation	SNP	ENST00000313077.7	37	c.2761C>T	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885318	0.72410	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.34472	1.36;1.36	4.8	4.8	0.61643	.	0.000000	0.56097	D	0.000030	T	0.67524	0.2902	M	0.89214	3.015	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.851	D;D;P	0.83275	0.996;0.974;0.698	T	0.75722	-0.3218	10	0.87932	D	0	-23.2113	18.2285	0.89926	0.0:1.0:0.0:0.0	.	949;490;921	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	F	921;949;490	ENSP00000324549:L921F;ENSP00000405956:L490F	ENSP00000324549:L921F	L	+	1	0	CYFIP1	20541582	1.000000	0.71417	0.584000	0.28653	0.148000	0.21650	5.921000	0.70028	2.372000	0.80975	0.563000	0.77884	CTC		0.557	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		31	35	0	0	0	1	0	31	35				
TONSL	4796	broad.mit.edu	37	8	145661199	145661199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:145661199G>A	ENST00000409379.3	-	17	2646	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	873					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTCGGGCACGGGGCCTGCTC	0.697																																						ENST00000409379.3																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						c.(2617-2619)Cgt>Tgt		tonsoku-like, DNA repair protein							42.0	51.0	48.0					8																	145661199		2196	4292	6488	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661199G>A		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2617C>T	8.37:g.145661199G>A	ENSP00000386239:p.Arg873Cys					AC084125.4_ENST00000544423.1_RNA	p.R873C	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN			17	2646	-			873					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2617C>T	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409740	0.62399	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.47528	0.84	4.27	0.0621	0.14343	.	1.605780	0.03563	N	0.227336	T	0.37461	0.1004	L	0.36672	1.1	0.09310	N	0.999999	D	0.63880	0.993	B	0.44315	0.446	T	0.33954	-0.9848	10	0.62326	D	0.03	-4.0043	0.7952	0.01065	0.221:0.1882:0.3974:0.1934	.	873	Q96HA7	TONSL_HUMAN	C	873;872	ENSP00000386239:R873C	ENSP00000386239:R873C	R	-	1	0	TONSL	145632007	0.000000	0.05858	0.003000	0.11579	0.655000	0.38815	0.429000	0.21412	0.421000	0.25980	0.313000	0.20887	CGT		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		47	84	0	0	0	1	0	47	84				
ZNF544	27300	broad.mit.edu	37	19	58758137	58758137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758137G>A	ENST00000596652.1	+	5	455	c.221G>A	c.(220-222)aGg>aAg	p.R74K	ZNF544_ENST00000333581.5_Missense_Mutation_p.R74K|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599227.1_Silent_p.Q62Q|ZNF544_ENST00000594384.1_Silent_p.Q62Q|ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Missense_Mutation_p.R74K|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000596825.1_Silent_p.Q62Q|ZNF544_ENST00000269829.4_Missense_Mutation_p.R74K|ZNF544_ENST00000595981.1_Missense_Mutation_p.R74K|ZNF544_ENST00000600044.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GACCTGTGCAGGGCAGAGCAG	0.567																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(220-222)aGg>aAg		zinc finger protein 544							101.0	94.0	96.0					19																	58758137		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58758137G>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.221G>A	19.37:g.58758137G>A	ENSP00000469635:p.Arg74Lys					ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Missense_Mutation_p.R74K|ZNF544_ENST00000596825.1_Silent_p.Q62Q|ZNF544_ENST00000333581.5_Missense_Mutation_p.R74K|ZNF544_ENST00000599227.1_Silent_p.Q62Q|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Missense_Mutation_p.R74K|ZNF544_ENST00000594384.1_Silent_p.Q62Q|ZNF544_ENST00000596652.1_Missense_Mutation_p.R74K|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR	p.R74K	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	695	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	74			KRAB.		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.221G>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	9.033	0.987815	0.18966	.	.	ENSG00000198131	ENST00000269829;ENST00000333581	T;T	0.06449	3.3;5.57	1.8	0.661	0.17874	Krueppel-associated box (2);	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	P	0.51933	0.949	B	0.43575	0.424	T	0.42582	-0.9443	9	0.18276	T	0.48	.	5.9882	0.19446	0.0:0.0:0.448:0.552	.	74	Q6NX49	ZN544_HUMAN	K	74	ENSP00000269829:R74K;ENSP00000329320:R74K	ENSP00000269829:R74K	R	+	2	0	ZNF544	63449949	0.000000	0.05858	0.005000	0.12908	0.078000	0.17371	-1.516000	0.02250	0.284000	0.22305	0.407000	0.27541	AGG		0.567	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		25	56	0	0	0	1	0	25	56				
HELZ2	85441	broad.mit.edu	37	20	62193940	62193940	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62193940G>A	ENST00000467148.1	-	8	6304	c.6235C>T	c.(6235-6237)Ccg>Tcg	p.P2079S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P1510S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2079					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACCTCTTCCGGAACCTTCTCC	0.662																																						ENST00000467148.1																			0											c.(6235-6237)Ccg>Tcg		helicase with zinc finger 2, transcriptional coactivator							18.0	14.0	15.0					20																	62193940		2185	4280	6465	SO:0001583	missense	85441							g.chr20:62193940G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6235C>T	20.37:g.62193940G>A	ENSP00000417401:p.Pro2079Ser					HELZ2_ENST00000427522.2_Missense_Mutation_p.P1510S	p.P2079S	NM_001037335.2	NP_001032412.2					8	6304	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.6235C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480094	0.63849	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.83075	-1.68;-1.56	4.32	4.32	0.51571	.	0.263784	0.38058	N	0.001833	D	0.87346	0.6154	M	0.70275	2.135	0.58432	D	0.999999	D;P	0.54047	0.964;0.532	P;B	0.52514	0.701;0.348	D	0.89703	0.3906	10	0.87932	D	0	-15.5305	16.7909	0.85589	0.0:0.0:1.0:0.0	.	2079;1510	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	1510;2079	ENSP00000393257:P1510S;ENSP00000417401:P2079S	ENSP00000393257:P1510S	P	-	1	0	RP4-697K14.7	61664384	1.000000	0.71417	0.988000	0.46212	0.200000	0.23975	8.777000	0.91781	1.963000	0.57068	0.313000	0.20887	CCG		0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		5	9	0	0	0	1	0	5	9				
TSG101	7251	broad.mit.edu	37	11	18505527	18505527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18505527C>T	ENST00000251968.3	-	8	1148	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	TSG101_ENST00000357193.3_Missense_Mutation_p.E140K|TSG101_ENST00000536719.1_Missense_Mutation_p.E245K	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	245					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CGATCCATTTCCTCCTTCATC	0.522																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(733-735)Gaa>Aaa		tumor susceptibility 101							295.0	283.0	287.0					11																	18505527		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505527C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.733G>A	11.37:g.18505527C>T	ENSP00000251968:p.Glu245Lys					TSG101_ENST00000357193.3_Missense_Mutation_p.E140K|TSG101_ENST00000251968.3_Missense_Mutation_p.E245K	p.E245K			Q99816	TS101_HUMAN			8	867	-			245					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.733G>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379105	0.42207	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.25912	1.77;1.77;1.77	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	N	0.17800	0.525	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.08046	-1.0741	10	0.09843	T	0.71	-23.9362	17.7611	0.88465	0.0:1.0:0.0:0.0	.	245	Q99816	TS101_HUMAN	K	245;245;140	ENSP00000438471:E245K;ENSP00000251968:E245K;ENSP00000349721:E140K	ENSP00000251968:E245K	E	-	1	0	TSG101	18462103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.175000	0.77632	2.629000	0.89072	0.561000	0.74099	GAA		0.522	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		79	204	0	0	0	1	0	79	204				
LAMB3	3914	broad.mit.edu	37	1	209791282	209791282	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:209791282G>A	ENST00000356082.4	-	20	3155	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S	LAMB3_ENST00000391911.1_Silent_p.S1007S|LAMB3_ENST00000367030.3_Silent_p.S1007S	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1007	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TAAGCCGAAGGGAGCGGCTGG	0.567																																						ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3019-3021)tcC>tcT		laminin, beta 3							95.0	89.0	91.0					1																	209791282		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791282G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3021C>T	1.37:g.209791282G>A						LAMB3_ENST00000356082.4_Silent_p.S1007S|LAMB3_ENST00000367030.3_Silent_p.S1007S	p.S1007S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3410	-			1007			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.3021C>T	CCDS1487.1																																																																																				0.567	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		19	53	0	0	0	1	0	19	53				
TECPR1	25851	broad.mit.edu	37	7	97861194	97861194	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:97861194G>A	ENST00000447648.2	-	13	2195	c.1896C>T	c.(1894-1896)gcC>gcT	p.A632A	TECPR1_ENST00000379795.3_Silent_p.A633A|TECPR1_ENST00000542604.1_Silent_p.A562A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	632	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCTCCAGGGCCAAGCGCA	0.662																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1894-1896)gcC>gcT		tectonin beta-propeller repeat containing 1							60.0	69.0	66.0					7																	97861194		2124	4234	6358	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97861194G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1896C>T	7.37:g.97861194G>A						TECPR1_ENST00000379795.3_Silent_p.A633A|TECPR1_ENST00000542604.1_Silent_p.A562A	p.A632A			Q7Z6L1	TCPR1_HUMAN			13	2195	-			632			PH.		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.1896C>T	CCDS47648.1																																																																																				0.662	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		27	40	0	0	0	1	0	27	40				
ZNF334	55713	broad.mit.edu	37	20	45130155	45130155	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:45130155G>A	ENST00000347606.4	-	5	2005	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	ZNF334_ENST00000593880.1_Missense_Mutation_p.S631F|ZNF334_ENST00000457685.2_Missense_Mutation_p.S570F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	608					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(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGGCAGAAGGATTTCCCACA	0.428																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1708-1710)tCc>tTc		zinc finger protein 334							136.0	129.0	131.0					20																	45130155		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130155G>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1823C>T	20.37:g.45130155G>A	ENSP00000255129:p.Ser608Phe					ZNF334_ENST00000593880.1_Missense_Mutation_p.S631F|ZNF334_ENST00000347606.4_Missense_Mutation_p.S608F	p.S570F			Q9HCZ1	ZN334_HUMAN			6	3032	-		Myeloproliferative disorder(115;0.0122)	608					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1709C>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992763	0.35131	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08370	3.1;3.1	3.23	2.16	0.27623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.54863	1.705	0.09310	N	0.999994	D;D;D	0.56287	0.975;0.975;0.975	P;P;P	0.48334	0.574;0.574;0.574	T	0.14254	-1.0479	9	0.42905	T	0.14	.	8.5839	0.33646	0.0:0.3856:0.6144:0.0	.	570;608;631	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	F	570;608	ENSP00000402582:S570F;ENSP00000255129:S608F	ENSP00000255129:S608F	S	-	2	0	ZNF334	44563562	0.000000	0.05858	0.986000	0.45419	0.989000	0.77384	-0.017000	0.12590	1.798000	0.52647	0.591000	0.81541	TCC		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			41	75	0	0	0	1	0	41	75				
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000604262.1_5'UTR|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000412791.1_5'Flank	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607																																						ENST00000285848.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(169-171)Ctt>Ttt		oxidase (cytochrome c) assembly 1-like							91.0	103.0	99.0					14																	23235899		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235899C>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.169C>T	14.37:g.23235899C>T	ENSP00000285848:p.Leu57Phe					OXA1L_ENST00000604262.1_5'UTR	p.L57F	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	169	+	all_cancers(95;8.44e-05)		0					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.169C>T	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589901	0.46214	.	.	ENSG00000155463	ENST00000285848	T	0.34667	1.35	5.05	3.24	0.37175	.	0.215770	0.29417	N	0.012216	T	0.22360	0.0539	N	0.24115	0.695	0.45318	D	0.998314	B	0.30033	0.266	B	0.29524	0.103	T	0.04961	-1.0915	10	0.45353	T	0.12	-8.6814	7.5586	0.27839	0.0:0.8091:0.0:0.1909	.	57	Q2M1J6	.	F	57	ENSP00000285848:L57F	ENSP00000285848:L57F	L	+	1	0	OXA1L	22305739	0.001000	0.12720	0.115000	0.21578	0.593000	0.36681	-0.032000	0.12266	0.715000	0.32103	0.655000	0.94253	CTT		0.607	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		60	100	0	0	0	1	0	60	100				
GRM2	2912	broad.mit.edu	37	3	51749464	51749464	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:51749464G>A	ENST00000395052.3	+	4	1909	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	559					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTGCCCCAGGAGTACATCCG	0.622																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1675-1677)Gag>Aag		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						42.0	39.0	40.0					3																	51749464		2202	4294	6496	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51749464G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1675G>A	3.37:g.51749464G>A	ENSP00000378492:p.Glu559Lys					GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	p.E559K	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	1909	+			559					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.1675G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	8.605	0.887793	0.17540	.	.	ENSG00000164082	ENST00000395052	D	0.90069	-2.61	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	L	0.28504	0.86	0.80722	D	1	B	0.24483	0.104	B	0.19148	0.024	T	0.78239	-0.2281	10	0.23302	T	0.38	.	19.3413	0.94342	0.0:0.0:1.0:0.0	.	559	Q14416	GRM2_HUMAN	K	559	ENSP00000378492:E559K	ENSP00000378492:E559K	E	+	1	0	GRM2	51724504	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	7.967000	0.87967	2.664000	0.90586	0.561000	0.74099	GAG		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			30	40	0	0	0	1	0	30	40				
NYNRIN	57523	broad.mit.edu	37	14	24884423	24884423	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:24884423C>T	ENST00000382554.3	+	9	3786	c.3468C>T	c.(3466-3468)tcC>tcT	p.S1156S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1156					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCCAACTCCCAGCTGCCCT	0.647																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(3466-3468)tcC>tcT		NYN domain and retroviral integrase containing							49.0	56.0	54.0					14																	24884423		2111	4218	6329	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24884423C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.3468C>T	14.37:g.24884423C>T							p.S1156S	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			9	3786	+			1156					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.3468C>T	CCDS45090.1																																																																																				0.647	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			23	50	0	0	0	1	0	23	50				
KRT38	8687	broad.mit.edu	37	17	39596463	39596463	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:39596463C>T	ENST00000246646.3	-	2	524	c.525G>A	c.(523-525)ctG>ctA	p.L175L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	175	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTTGTACAATCAGCCTGGCAT	0.547																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(523-525)ctG>ctA		keratin 38							112.0	89.0	97.0					17																	39596463		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39596463C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.525G>A	17.37:g.39596463C>T							p.L175L	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			2	524	-		Breast(137;0.000496)	175			Coil 1B.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.525G>A	CCDS11392.1																																																																																				0.547	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		15	22	0	0	0	1	0	15	22				
LIMS2	55679	broad.mit.edu	37	2	128415076	128415076	+	Silent	SNP	G	G	A	rs538621019		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:128415076G>A	ENST00000355119.4	-	2	237	c.72C>T	c.(70-72)ccC>ccT	p.P24P	LIMS2_ENST00000410011.1_Silent_p.P19P|LIMS2_ENST00000324938.5_Silent_p.P48P|LIMS2_ENST00000409808.2_Silent_p.P19P|LIMS2_ENST00000409455.1_Silent_p.P19P|LIMS2_ENST00000545738.2_Silent_p.P46P	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	24	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)		TGCGCTCGGCGGGGGAGAAGC	0.637																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(55-57)ccC>ccT		LIM and senescent cell antigen-like domains 2							76.0	70.0	72.0					2																	128415076		2203	4300	6503	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128415076G>A	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.72C>T	2.37:g.128415076G>A						LIMS2_ENST00000409808.2_Silent_p.P19P|LIMS2_ENST00000355119.4_Silent_p.P24P|LIMS2_ENST00000545738.2_Silent_p.P46P|LIMS2_ENST00000324938.5_Silent_p.P48P|LIMS2_ENST00000410011.1_Silent_p.P19P	p.P19P			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	2	692	-	Colorectal(110;0.1)		24			LIM zinc-binding 1.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.57C>T	CCDS54395.1																																																																																				0.637	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		53	62	0	0	0	1	0	53	62				
GPR157	80045	broad.mit.edu	37	1	9188805	9188805	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9188805G>A	ENST00000377411.4	-	1	424	c.282C>T	c.(280-282)ttC>ttT	p.F94F	GPR157_ENST00000414642.2_Silent_p.F94F	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGTCCAGAAGAAGGAGCTGG	0.652																																						ENST00000377411.4																			0				lung(4)|prostate(1)	5						c.(280-282)ttC>ttT		G protein-coupled receptor 157							31.0	28.0	29.0					1																	9188805		2203	4299	6502	SO:0001819	synonymous_variant	80045					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:9188805G>A	AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.282C>T	1.37:g.9188805G>A						GPR157_ENST00000414642.2_Silent_p.F94F	p.F94F	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)	1	424	-	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	94					A2A334|Q8WWB8|Q9HA73	Silent	SNP	ENST00000377411.4	37	c.282C>T	CCDS100.2	.	.	.	.	.	.	.	.	.	.	g	13.55	2.271837	0.40194	.	.	ENSG00000180758	ENST00000377408	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	T	0.75824	0.3902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80377	-0.1408	5	0.87932	D	0	-39.8953	16.2653	0.82574	0.0:0.0:1.0:0.0	.	.	.	.	F	91	.	ENSP00000366625:S91F	S	-	2	0	GPR157	9111392	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.568000	0.73987	2.154000	0.67381	0.457000	0.33378	TCT		0.652	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980		10	11	0	0	0	1	0	10	11				
ZC3HC1	51530	broad.mit.edu	37	7	129691187	129691187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:129691187C>T	ENST00000358303.4	-	1	104	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7E|ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	7					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AAACGCTTGTCCCTCACAGGG	0.577																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(19-21)gGa>gAa		zinc finger, C3HC-type containing 1							48.0	50.0	50.0					7																	129691187		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129691187C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.20G>A	7.37:g.129691187C>T	ENSP00000351052:p.Gly7Glu					ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7E|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7E	p.G7E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			1	104	-	Melanoma(18;0.0435)		7					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.20G>A	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373246	0.24857	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000481503;ENST00000480193	T;T;T	0.47177	1.45;0.88;0.85	5.2	0.0456	0.14231	.	0.481828	0.20522	N	0.090690	T	0.21590	0.0520	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05616	-1.0874	10	0.15952	T	0.53	-3.9404	5.0669	0.14587	0.0:0.3926:0.1615:0.446	.	7	Q86WB0	NIPA_HUMAN	E	7	ENSP00000351052:G7E;ENSP00000353933:G7E;ENSP00000418533:G7E	ENSP00000351052:G7E	G	-	2	0	ZC3HC1	129478423	0.000000	0.05858	0.185000	0.23176	0.295000	0.27426	-0.241000	0.08940	0.091000	0.17302	0.561000	0.74099	GGA		0.577	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		24	61	0	0	0	1	0	24	61				
AP3B2	8120	broad.mit.edu	37	15	83334306	83334306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:83334306C>T	ENST00000261722.3	-	16	2081	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G593D|AP3B2_ENST00000535359.1_Missense_Mutation_p.G625D	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	625					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)			GGACAGTGAGCCCAGCTGGAA	0.612																																						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.(1873-1875)gGc>gAc		adaptor-related protein complex 3, beta 2 subunit							84.0	95.0	91.0					15																	83334306		2147	4270	6417	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.chr15:83334306C>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.1874G>A	15.37:g.83334306C>T	ENSP00000261722:p.Gly625Asp					AP3B2_ENST00000535359.1_Missense_Mutation_p.G625D|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G593D	p.G625D	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		16	2081	-			625					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1874G>A	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259533	0.95368	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.74209	-0.62;-0.6;-0.82	5.76	5.76	0.90799	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	M	0.88570	2.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.991	D	0.90358	0.4371	10	0.87932	D	0	-25.0679	19.5608	0.95371	0.0:1.0:0.0:0.0	.	593;625;625	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	D	625;593;625	ENSP00000261722:G625D;ENSP00000438721:G593D;ENSP00000440984:G625D	ENSP00000261722:G625D	G	-	2	0	AP3B2	81131361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.732000	0.84908	2.720000	0.93068	0.591000	0.81541	GGC		0.612	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			34	51	0	0	0	1	0	34	51				
ALLC	55821	broad.mit.edu	37	2	3730584	3730584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:3730584G>A	ENST00000252505.3	+	7	593	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	163					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)		CTTAAGCCAGGAAACCCTGCT	0.413										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.(430-432)gGa>gAa		allantoicase							161.0	164.0	163.0					2																	3730584		1940	4141	6081	SO:0001583	missense	55821						allantoicase activity	g.chr2:3730584G>A	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.431G>A	2.37:g.3730584G>A	ENSP00000252505:p.Gly144Glu	HNSCC(21;0.051)					p.G144E	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)	7	593	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	163					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.431G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406664	0.62399	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.44	4.56	0.56223	Allantoicase domain (1);Galactose-binding domain-like (1);	0.048437	0.85682	D	0.000000	T	0.81034	0.4739	M	0.88241	2.94	0.48288	D	0.999621	D	0.89917	1.0	D	0.97110	1.0	D	0.84265	0.0485	9	0.72032	D	0.01	-28.1981	12.2802	0.54759	0.0832:0.0:0.9168:0.0	.	163	Q8N6M5	ALLC_HUMAN	E	144	.	ENSP00000252505:G144E	G	+	2	0	ALLC	3708459	1.000000	0.71417	0.159000	0.22649	0.686000	0.39977	6.853000	0.75435	1.431000	0.47355	-0.229000	0.12294	GGA		0.413	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			74	111	0	0	0	1	0	74	111				
GPRASP2	114928	broad.mit.edu	37	X	101971499	101971499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101971499C>T	ENST00000535209.1	+	4	2533	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000543253.1_Nonsense_Mutation_p.R568*			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	568						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.R568*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CCGGGAAATTCGAGAGCATCT	0.483																																						ENST00000543253.1																			1	Substitution - Nonsense(1)	p.R568*(1)	large_intestine(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1702-1704)Cga>Tga		G protein-coupled receptor associated sorting protein 2							99.0	94.0	96.0					X																	101971499		2203	4300	6503	SO:0001587	stop_gained	114928							g.chrX:101971499C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1702C>T	X.37:g.101971499C>T	ENSP00000437394:p.Arg568*					GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568*	p.R568*	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2621	+								D3DXA0|Q8NAB4	Nonsense_Mutation	SNP	ENST00000535209.1	37	c.1702C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	42	9.193336	0.99096	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	.	.	.	4.33	3.46	0.39613	.	0.000000	0.39615	N	0.001319	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5543	0.33471	0.229:0.771:0.0:0.0	.	.	.	.	X	568	.	ENSP00000339057:R568X	R	+	1	2	GPRASP2	101858155	1.000000	0.71417	0.989000	0.46669	0.815000	0.46073	0.913000	0.28611	1.162000	0.42619	0.600000	0.82982	CGA		0.483	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		65	93	0	0	0	1	0	65	93				
PPEF2	5470	broad.mit.edu	37	4	76797634	76797634	+	Missense_Mutation	SNP	G	G	A	rs138339033		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:76797634G>A	ENST00000286719.7	-	11	1482	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	376	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCGCTGCAGGGGATGCTGGAG	0.657																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1126-1128)Ccc>Tcc		protein phosphatase, EF-hand calcium binding domain 2		G	SER/PRO	0,4406		0,0,2203	37.0	38.0	38.0		1126	5.0	1.0	4	dbSNP_134	38	1,8599		0,1,4299	no	missense	PPEF2	NM_006239.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	376/754	76797634	1,13005	2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76797634G>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1126C>T	4.37:g.76797634G>A	ENSP00000286719:p.Pro376Ser						p.P376S	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		11	1482	-			376			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1126C>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588917	0.66105	0.0	1.16E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.39787	1.06	5.02	5.02	0.67125	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	1.650040	0.03142	N	0.166783	T	0.35941	0.0949	N	0.00368	-1.59	0.40204	D	0.977549	D;D	0.76494	0.975;0.999	P;D	0.72338	0.796;0.977	T	0.60637	-0.7224	10	0.27082	T	0.32	-5.5414	15.8132	0.78581	0.0:0.0:1.0:0.0	.	376;376	O14830-2;O14830	.;PPE2_HUMAN	S	376	ENSP00000286719:P376S	ENSP00000286719:P376S	P	-	1	0	PPEF2	77016658	0.982000	0.34865	0.997000	0.53966	0.278000	0.26855	1.488000	0.35551	2.349000	0.79799	0.491000	0.48974	CCC		0.657	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		11	16	0	0	0	1	0	11	16				
UNC79	57578	broad.mit.edu	37	14	94103625	94103625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:94103625G>A	ENST00000393151.2	+	33	5897	c.5897G>A	c.(5896-5898)gGa>gAa	p.G1966E	UNC79_ENST00000553484.1_Missense_Mutation_p.G1988E|UNC79_ENST00000256339.4_Missense_Mutation_p.G1789E|UNC79_ENST00000555664.1_Missense_Mutation_p.G1927E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1966					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						gacctggagggacagccattg	0.502																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5962-5964)gGa>gAa		unc-79 homolog (C. elegans)							140.0	101.0	114.0					14																	94103625		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94103625G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5897G>A	14.37:g.94103625G>A	ENSP00000376858:p.Gly1966Glu					UNC79_ENST00000256339.4_Missense_Mutation_p.G1789E|UNC79_ENST00000555664.1_Missense_Mutation_p.G1927E|UNC79_ENST00000393151.2_Missense_Mutation_p.G1966E	p.G1988E			Q9P2D8	UNC79_HUMAN			34	6117	+			1966					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5963G>A		.	.	.	.	.	.	.	.	.	.	G	16.74	3.206766	0.58343	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.32;2.18;2.17	5.34	5.34	0.76211	.	0.131937	0.48286	D	0.000184	T	0.15089	0.0364	N	0.14661	0.345	0.44061	D	0.996807	B	0.26845	0.161	B	0.29077	0.098	T	0.05818	-1.0862	10	0.51188	T	0.08	-2.7782	14.731	0.69383	0.0:0.0:1.0:0.0	.	1988	C9JQL1	.	E	1789;1927;1988;1966;1988	ENSP00000256339:G1789E;ENSP00000450868:G1927E;ENSP00000451360:G1988E;ENSP00000376858:G1966E	ENSP00000256339:G1789E	G	+	2	0	KIAA1409	93173378	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.306000	0.59117	2.937000	0.99478	0.650000	0.86243	GGA		0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		23	41	0	0	0	1	0	23	41				
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	C	T	rs377125285		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:18069767C>T	ENST00000205890.5	+	61	10218	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3294	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9880-9882)Cgg>Tgg		myosin XVA		C	TRP/ARG	1,4229		0,1,2114	113.0	124.0	120.0		9880	5.5	1.0	17		120	0,8470		0,0,4235	no	missense	MYO15A	NM_016239.3	101	0,1,6349	TT,TC,CC		0.0,0.0236,0.0079	probably-damaging	3294/3531	18069767	1,12699	2115	4235	6350	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18069767C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9880C>T	17.37:g.18069767C>T	ENSP00000205890:p.Arg3294Trp					MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron	p.R3294W	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			61	10218	+	all_neural(463;0.228)		3294			FERM.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.9880C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493420	0.44352	2.36E-4	0.0	ENSG00000091536	ENST00000205890;ENST00000418233	D	0.89617	-2.54	5.48	5.48	0.80851	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.94215	0.8143	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.876;0.999;0.991	D	0.94418	0.7638	9	0.62326	D	0.03	.	14.21	0.65759	0.1494:0.8506:0.0:0.0	.	283;558;3294;301	B4DLV9;B4DFC7;Q9UKN7;Q8TCK0	.;.;MYO15_HUMAN;.	W	3294;283	ENSP00000205890:R3294W	ENSP00000205890:R3294W	R	+	1	2	MYO15A	18010492	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.548000	0.53670	2.564000	0.86499	0.491000	0.48974	CGG		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		60	75	0	0	0	1	0	60	75				
LVRN	206338	broad.mit.edu	37	5	115350198	115350198	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:115350198A>G	ENST00000357872.4	+	16	2548	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		808						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AACTTTTCGCAAAATGGGTGG	0.368																																						ENST00000357872.4																			0											c.(2422-2424)gcA>gcG									102.0	97.0	99.0					5																	115350198		2202	4300	6502	SO:0001819	synonymous_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115350198A>G																												ENST00000357872.4:c.2424A>G	5.37:g.115350198A>G						AQPEP_ENST00000515454.1_3'UTR	p.A808A	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			16	2548	+			808					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.2424A>G	CCDS4124.1																																																																																				0.368	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			22	36	0	0	0	1	0	22	36				
MTMR3	8897	broad.mit.edu	37	22	30416043	30416043	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:30416043G>A	ENST00000401950.2	+	17	2737	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	MTMR3_ENST00000333027.3_Missense_Mutation_p.E799K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.E663K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E799K|MTMR3_ENST00000406629.1_Missense_Mutation_p.E799K|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	799					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GTTTCGAATAGAAGAGATTGC	0.527																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2395-2397)Gaa>Aaa		myotubularin related protein 3							92.0	91.0	91.0					22																	30416043		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416043G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2395G>A	22.37:g.30416043G>A	ENSP00000384651:p.Glu799Lys					MTMR3_ENST00000401950.2_Missense_Mutation_p.E799K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E799K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E799K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E663K	p.E799K	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2723	+			799					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2395G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	4.166	0.029276	0.08054	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92805	-2.92;-2.89;-3.11;-2.94;-2.89	4.2	2.12	0.27331	.	1.590480	0.03104	N	0.161485	D	0.83963	0.5368	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14012	0.009;0.005;0.009	B;B;B	0.12837	0.005;0.002;0.008	T	0.72316	-0.4330	10	0.25751	T	0.34	.	4.5651	0.12180	0.4159:0.0:0.584:0.0	.	799;799;799	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	K	799;799;663;799;799	ENSP00000384651:E799K;ENSP00000331649:E799K;ENSP00000318070:E663K;ENSP00000307271:E799K;ENSP00000384077:E799K	ENSP00000318070:E663K	E	+	1	0	MTMR3	28746043	0.203000	0.23435	0.012000	0.15200	0.010000	0.07245	2.187000	0.42602	1.115000	0.41800	0.563000	0.77884	GAA		0.527	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		36	41	0	0	0	1	0	36	41				
OR6X1	390260	broad.mit.edu	37	11	123624347	123624347	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:123624347C>T	ENST00000327930.2	-	1	906	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCTTCACCTCCTTGTTTCTA	0.403																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(880-882)Gag>Aag		olfactory receptor, family 6, subfamily X, member 1							112.0	123.0	120.0					11																	123624347		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624347C>T	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.880G>A	11.37:g.123624347C>T	ENSP00000333724:p.Glu294Lys						p.E294K	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	906	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	294					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.880G>A	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074551	0.55646	.	.	ENSG00000221931	ENST00000327930	T	0.38077	1.16	3.96	3.96	0.45880	.	.	.	.	.	T	0.50257	0.1605	L	0.46947	1.48	0.46011	D	0.998819	D	0.76494	0.999	D	0.67103	0.949	T	0.52682	-0.8543	9	0.62326	D	0.03	-11.0071	13.5894	0.61951	0.0:1.0:0.0:0.0	.	294	Q8NH79	OR6X1_HUMAN	K	294	ENSP00000333724:E294K	ENSP00000333724:E294K	E	-	1	0	OR6X1	123129557	0.997000	0.39634	0.985000	0.45067	0.986000	0.74619	2.983000	0.49345	2.072000	0.62099	0.650000	0.86243	GAG		0.403	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		45	54	0	0	0	1	0	45	54				
IGHV4-59	28392	broad.mit.edu	37	14	107083436	107083436	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:107083436G>A	ENST00000455737.1	-	0	207									immunoglobulin heavy variable 4-59																		GGGGCTGCCGGATCCAGCTCC	0.572																																						ENST00000455737.1																			0																				89.0	92.0	91.0					14																	107083436		1868	4105	5973			28392							g.chr14:107083436G>A	L10088		14q32.33	2012-02-08			ENSG00000224373	ENSG00000224373		"""Immunoglobulins / IGH locus"""	5654	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151973		14.37:g.107083436G>A														0	207	-									RNA	SNP	ENST00000455737.1	37																																																																																						0.572	IGHV4-59-002	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324620.1	NG_001019		43	60	0	0	0	1	0	43	60				
MUM1	84939	broad.mit.edu	37	19	1360624	1360624	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:1360624C>T	ENST00000415183.3	+	4	733	c.707C>T	c.(706-708)tCa>tTa	p.S236L	MUM1_ENST00000311401.5_Missense_Mutation_p.S167L|MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	235					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCCCTTTCAGAGGACGAC	0.577																																						ENST00000311401.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(499-501)tCa>tTa		melanoma associated antigen (mutated) 1							67.0	66.0	66.0					19																	1360624		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1360624C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.707C>T	19.37:g.1360624C>T	ENSP00000394925:p.Ser236Leu					MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000415183.3_Missense_Mutation_p.S236L	p.S167L			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	886	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	235					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.500C>T		.	.	.	.	.	.	.	.	.	.	C	10.86	1.470564	0.26423	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183;ENST00000542512	T;T;T	0.27890	1.67;1.64;1.65	4.49	2.31	0.28768	.	2.862850	0.00984	N	0.003438	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	P;P;P;P	0.39551	0.51;0.678;0.642;0.51	B;B;B;B	0.38458	0.142;0.235;0.274;0.142	T	0.21999	-1.0229	10	0.62326	D	0.03	.	5.8286	0.18568	0.0:0.6966:0.1979:0.1055	.	236;236;167;235	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	236;167;236;165	ENSP00000345789:S236L;ENSP00000309135:S167L;ENSP00000394925:S236L	ENSP00000309135:S167L	S	+	2	0	MUM1	1311624	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.483000	0.22292	0.595000	0.29777	0.650000	0.86243	TCA		0.577	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		34	19	0	0	0	1	0	34	19				
HDAC2	3066	broad.mit.edu	37	6	114267235	114267235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:114267235G>A	ENST00000519065.1	-	9	1295	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	HDAC2_ENST00000398283.2_Missense_Mutation_p.R401C|HDAC2_ENST00000519108.1_Missense_Mutation_p.R277C|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277C			Q92769	HDAC2_HUMAN	histone deacetylase 2	307	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	GCAACATTACGGATTGTGTAG	0.378																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(919-921)Cgt>Tgt		histone deacetylase 2	Vorinostat(DB02546)						149.0	144.0	146.0					6																	114267235		1952	4132	6084	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114267235G>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.919C>T	6.37:g.114267235G>A	ENSP00000430432:p.Arg307Cys					HDAC2_ENST00000398283.2_Missense_Mutation_p.R401C|HDAC2_ENST00000519108.1_Missense_Mutation_p.R277C|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277C	p.R307C			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	9	1295	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	307			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.919C>T	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891817	0.72524	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.98	5.98	0.97165	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.88194	0.6371	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.941;0.961	D	0.91376	0.5123	10	0.87932	D	0	-13.7078	15.2004	0.73132	0.0:0.0:0.8592:0.1408	.	277;307	B3KRS5;Q92769	.;HDAC2_HUMAN	C	307;401;277;277	ENSP00000430432:R307C;ENSP00000381331:R401C;ENSP00000430008:R277C;ENSP00000357621:R277C	ENSP00000357621:R277C	R	-	1	0	HDAC2	114373928	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	6.459000	0.73513	2.838000	0.97847	0.591000	0.81541	CGT		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			51	39	0	0	0	1	0	51	39				
GBF1	8729	broad.mit.edu	37	10	104136133	104136133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:104136133G>A	ENST00000369983.3	+	31	4248	c.3988G>A	c.(3988-3990)Ggc>Agc	p.G1330S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1330					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGGCAGGCCGGGCAAGATACA	0.537																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(3988-3990)Ggc>Agc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							131.0	108.0	116.0					10																	104136133		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104136133G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3988G>A	10.37:g.104136133G>A	ENSP00000359000:p.Gly1330Ser						p.G1330S	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	31	4248	+		Colorectal(252;0.0236)	1330					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3988G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	8.450	0.852875	0.17106	.	.	ENSG00000107862	ENST00000369983	T	0.09255	3.0	5.55	5.55	0.83447	.	0.303004	0.37393	N	0.002116	T	0.06188	0.0160	N	0.05441	-0.05	0.47698	D	0.99949	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.11329	0.001;0.001;0.006	T	0.43669	-0.9377	10	0.15952	T	0.53	-16.5794	14.5263	0.67892	0.0:0.0:0.8537:0.1463	.	1330;1330;1330	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	1330	ENSP00000359000:G1330S	ENSP00000359000:G1330S	G	+	1	0	GBF1	104126123	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.024000	0.57218	2.894000	0.99253	0.655000	0.94253	GGC		0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			43	68	0	0	0	1	0	43	68				
CDK5	1020	broad.mit.edu	37	7	150751520	150751520	+	Missense_Mutation	SNP	G	G	A	rs374928837		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:150751520G>A	ENST00000485972.1	-	10	1364	c.683C>T	c.(682-684)cCc>cTc	p.P228L	CDK5_ENST00000297518.4_Missense_Mutation_p.P196L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		GGTCATAGAGGGCCACTGCTC	0.597																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(682-684)cCc>cTc		cyclin-dependent kinase 5		G	LEU/PRO,LEU/PRO	0,4208		0,0,2104	83.0	87.0	86.0		587,683	4.9	1.0	7		86	1,8441		0,1,4220	no	missense,missense	CDK5	NM_001164410.1,NM_004935.3	98,98	0,1,6324	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	196/261,228/293	150751520	1,12649	2104	4221	6325	SO:0001583	missense	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150751520G>A	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"""Cyclin-dependent kinases"""	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.683C>T	7.37:g.150751520G>A	ENSP00000419782:p.Pro228Leu					CDK5_ENST00000297518.4_Missense_Mutation_p.P196L	p.P228L	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	10	1364	-		Breast(660;0.159)|Ovarian(593;0.182)	228			Protein kinase.		A1XKG3	Missense_Mutation	SNP	ENST00000485972.1	37	c.683C>T	CCDS47748.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012543	0.75161	0.0	1.18E-4	ENSG00000164885	ENST00000485972;ENST00000297518	T;T	0.66099	-0.19;-0.19	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128562	0.53938	D	0.000059	T	0.73961	0.3654	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76427	-0.2963	10	0.87932	D	0	-4.0752	15.6443	0.77036	0.0:0.0:1.0:0.0	.	228	Q00535	CDK5_HUMAN	L	228;196	ENSP00000419782:P228L;ENSP00000297518:P196L	ENSP00000297518:P196L	P	-	2	0	CDK5	150382453	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	3.791000	0.55469	2.559000	0.86315	0.650000	0.86243	CCC		0.597	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			19	34	0	0	0	1	0	19	34				
ZNF883	169834	broad.mit.edu	37	9	115760065	115760065	+	lincRNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760065C>T	ENST00000427548.1	-	0	1748							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGGTTTTTCCACATTCAGTA	0.398																																						ENST00000427548.1																			0													zinc finger protein 883							100.0	99.0	99.0					9																	115760065		2158	4281	6439			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760065C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760065C>T										P0CG24	ZN883_HUMAN			0	1748	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.398	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		30	8	0	0	0	1	0	30	8				
TBL2	26608	broad.mit.edu	37	7	72985161	72985161	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:72985161G>A	ENST00000305632.5	-	7	1261	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	TBL2_ENST00000432538.1_Silent_p.S304S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	340							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCGTTGGGGGAGAGGGCCA	0.617																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(1018-1020)tcC>tcT		transducin (beta)-like 2							62.0	65.0	64.0					7																	72985161		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72985161G>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1020C>T	7.37:g.72985161G>A						TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.S304S	p.S340S	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			7	1261	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	340					Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.1020C>T	CCDS5551.1																																																																																				0.617	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		44	90	0	0	0	1	0	44	90				
AHNAK	79026	broad.mit.edu	37	11	62290619	62290619	+	Missense_Mutation	SNP	G	G	A	rs551324364		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:62290619G>A	ENST00000378024.4	-	5	11544	c.11270C>T	c.(11269-11271)cCc>cTc	p.P3757L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3757					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGACTTTGGGGCCCTTCAG	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11269-11271)cCc>cTc		AHNAK nucleoprotein							126.0	129.0	128.0					11																	62290619		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290619G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11270C>T	11.37:g.62290619G>A	ENSP00000367263:p.Pro3757Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P3757L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11544	-		Melanoma(852;0.155)	3757					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11270C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	17.97	3.517346	0.64634	.	.	ENSG00000124942	ENST00000378024	T	0.25912	1.77	5.33	5.33	0.75918	.	0.181406	0.26820	N	0.022337	T	0.67277	0.2876	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79586	-0.1742	10	0.72032	D	0.01	-6.8964	18.6223	0.91326	0.0:0.0:1.0:0.0	.	3757	Q09666	AHNK_HUMAN	L	3757	ENSP00000367263:P3757L	ENSP00000367263:P3757L	P	-	2	0	AHNAK	62047195	1.000000	0.71417	0.331000	0.25455	0.010000	0.07245	5.658000	0.68003	2.493000	0.84123	0.579000	0.79373	CCC		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		64	86	0	0	0	1	0	64	86				
DLGAP2	9228	broad.mit.edu	37	8	1626530	1626530	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:1626530C>T	ENST00000421627.2	+	9	2333	c.2199C>T	c.(2197-2199)acC>acT	p.T733T	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	812					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCACCCCCACCCAGTACAGCG	0.627																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(2197-2199)acC>acT		discs, large (Drosophila) homolog-associated protein 2							47.0	56.0	53.0					8																	1626530		2052	4172	6224	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1626530C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2199C>T	8.37:g.1626530C>T						DLGAP2_ENST00000524065.1_3'UTR	p.T733T	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	9	2333	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	812					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.2199C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	8.689	0.906999	0.17833	.	.	ENSG00000198010	ENST00000520901	.	.	.	5.32	0.865	0.19074	.	.	.	.	.	T	0.52741	0.1753	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37572	-0.9700	4	.	.	.	-14.6432	6.0159	0.19603	0.1212:0.5413:0.2636:0.0739	.	.	.	.	L	736	.	.	P	+	2	0	DLGAP2	1613937	0.996000	0.38824	0.974000	0.42286	0.799000	0.45148	0.403000	0.20982	-0.143000	0.11334	0.650000	0.86243	CCC		0.627	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		17	32	0	0	0	1	0	17	32				
TAS2R46	259292	broad.mit.edu	37	12	11214525	11214525	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:11214525C>A	ENST00000533467.1	-	1	368	c.369G>T	c.(367-369)agG>agT	p.R123S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCTTAACTCTCCTCTTTAAGT	0.353																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(367-369)agG>agT		taste receptor, type 2, member 46							92.0	96.0	95.0					12																	11214525		2026	4207	6233	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214525C>A	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.369G>T	12.37:g.11214525C>A	ENSP00000436450:p.Arg123Ser					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.R123S	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	368	-			123					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.369G>T	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	C	9.608	1.130552	0.21041	.	.	ENSG00000226761	ENST00000533467	T	0.40756	1.02	2.54	2.54	0.30619	.	.	.	.	.	T	0.42810	0.1219	M	0.69248	2.105	0.09310	N	1	B	0.28026	0.198	B	0.31337	0.128	T	0.40136	-0.9579	9	0.48119	T	0.1	.	10.8266	0.46635	0.0:1.0:0.0:0.0	.	123	P59540	T2R46_HUMAN	S	123	ENSP00000436450:R123S	ENSP00000436450:R123S	R	-	3	2	TAS2R46	11105792	0.002000	0.14202	0.004000	0.12327	0.109000	0.19521	0.008000	0.13197	1.451000	0.47736	0.194000	0.17425	AGG		0.353	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		36	56	1	0	6.84511e-11	1	6.91549e-11	36	56				
ZCCHC18	644353	broad.mit.edu	37	X	103359851	103359851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:103359851C>T	ENST00000537356.3	+	2	2463	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	350							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										ACCCGCTGTTCATATTGTGGG	0.493																																						ENST00000537356.2																			0											c.(1048-1050)tCa>tTa		zinc finger, CCHC domain containing 18							91.0	76.0	81.0					X																	103359851		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359851C>T	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.1049C>T	X.37:g.103359851C>T	ENSP00000473824:p.Ser350Leu					SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron	p.S350L	NM_001143978.1	NP_001137450.1	P0CG32	ZCC18_HUMAN			1	1049	+			350						Missense_Mutation	SNP	ENST00000537356.3	37	c.1049C>T																																																																																					0.493	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		6	12	0	0	0	1	0	6	12				
COL11A1	1301	broad.mit.edu	37	1	103488354	103488354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103488354G>A	ENST00000370096.3	-	8	1501	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.P358S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P409S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	397	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTCATTAGGGGGGCTTGTT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1225-1227)Cct>Tct		collagen, type XI, alpha 1							88.0	89.0	89.0					1																	103488354		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488354G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1189C>T	1.37:g.103488354G>A	ENSP00000359114:p.Pro397Ser					COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.P397S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P358S	p.P409S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1542	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	397			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1225C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	5.198	0.222131	0.09863	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87256	-2.21;-0.49;-2.23;-0.5	5.41	2.04	0.26737	.	0.544159	0.20499	N	0.091130	T	0.56001	0.1956	N	0.20530	0.585	0.31074	N	0.712723	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.24764	-1.0151	10	0.16896	T	0.51	.	7.8854	0.29646	0.1084:0.0:0.1893:0.7023	.	358;409;397	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	S	397;409;358;409	ENSP00000359114:P397S;ENSP00000351163:P409S;ENSP00000302551:P358S;ENSP00000408640:P409S	ENSP00000302551:P358S	P	-	1	0	COL11A1	103260942	1.000000	0.71417	0.994000	0.49952	0.759000	0.43091	2.910000	0.48766	0.129000	0.18514	-0.196000	0.12772	CCT		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		20	47	0	0	0	1	0	20	47				
OPRM1	4988	broad.mit.edu	37	6	154412608	154412608	+	Splice_Site	SNP	G	G	A	rs201410932		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:154412608G>A	ENST00000330432.7	+	3	1401		c.e3+1		OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000428397.2_Missense_Mutation_p.V389I|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site|OPRM1_ENST00000229768.5_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TAATCATCAGGTACGCAGTCT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		18961	0.0		0.0	False		,,,				2504	0.001					ENST00000428397.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1165-1167)Gta>Ata		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						33.0	34.0	34.0					6																	154412608		1788	3873	5661	SO:0001630	splice_region_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412608G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1164+1G>A	6.37:g.154412608G>A						OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000330432.7_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site|OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000229768.5_Splice_Site	p.V389I	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1361	+		Ovarian(120;0.196)	389					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.1165G>A	CCDS55070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094658|4.094658	0.76870|0.76870	.|.	.|.	ENSG00000112038|ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236|ENST00000428397	.|T	.|0.70045	.|-0.45	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44414	.|0.1292	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12013	.|0.005;0.001	.|B;B	.|0.09377	.|0.004;0.004	.|T	.|0.36114	.|-0.9761	.|7	.|.	.|.	.|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;389	.|Q6UPP1;P35372-2	.|.;.	.|I	-1|389	.|ENSP00000411903:V389I	.|.	.|V	+|+	.|1	.|0	OPRM1|OPRM1	154454301|154454301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	9.504000|9.504000	0.97986|0.97986	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	.|GTA		0.403	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914	Intron	15	14	0	0	0	1	0	15	14				
ASXL3	80816	broad.mit.edu	37	18	31324490	31324490	+	Nonsense_Mutation	SNP	C	C	T	rs199978752		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:31324490C>T	ENST00000269197.5	+	12	4678	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1560					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACAAGTCTCCGAGAATTACC	0.488											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4678-4680)Cga>Tga		additional sex combs like 3 (Drosophila)							31.0	30.0	30.0					18																	31324490		1923	4145	6068	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324490C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4678C>T	18.37:g.31324490C>T	ENSP00000269197:p.Arg1560*		OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.R1560*	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4678	+			1560					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.4678C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	42	9.190739	0.99094	.	.	ENSG00000141431	ENST00000269197	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	X	1560	.	ENSP00000269197:R1560X	R	+	1	2	ASXL3	29578488	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	2.082000	0.41605	2.941000	0.99782	0.655000	0.94253	CGA		0.488	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	15	0	0	0	1	0	12	15				
TMEM201	199953	broad.mit.edu	37	1	9662281	9662281	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:9662281G>A	ENST00000340381.6	+	6	1120	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	TMEM201_ENST00000340305.5_Missense_Mutation_p.A371T|TMEM201_ENST00000377376.4_Missense_Mutation_p.A371T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	371					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCACGGCGGCTGTGGCCAC	0.652																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(1111-1113)Gct>Act		transmembrane protein 201							34.0	30.0	31.0					1																	9662281		2201	4300	6501	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9662281G>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1111G>A	1.37:g.9662281G>A	ENSP00000344503:p.Ala371Thr					TMEM201_ENST00000377376.4_Missense_Mutation_p.A371T|TMEM201_ENST00000340381.6_Missense_Mutation_p.A371T	p.A371T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	6	1120	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	371					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.1111G>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.07|16.07	3.017325|3.017325	0.54576|0.54576	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	4.75|4.75	3.83|3.83	0.44106|0.44106	.|.	0.136212|.	0.48767|.	D|.	0.000163|.	T|T	0.52517|0.52517	0.1739|0.1739	L|L	0.36672|0.36672	1.1|1.1	0.48696|0.48696	D|D	0.999692|0.999692	B;B|.	0.26120|.	0.142;0.028|.	B;B|.	0.28784|.	0.094;0.021|.	T|T	0.44452|0.44452	-0.9327|-0.9327	9|5	0.72032|.	D|.	0.01|.	-2.5976|-2.5976	10.1096|10.1096	0.42555|0.42555	0.0928:0.0:0.9072:0.0|0.0928:0.0:0.9072:0.0	.|.	371;371|.	E9PBR6;Q5SNT2-2|.	.;.|.	T|D	371|280	.|.	ENSP00000344772:A371T|.	A|G	+|+	1|2	0|0	TMEM201|TMEM201	9584868|9584868	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.666000|0.666000	0.39218|0.39218	6.891000|6.891000	0.75639|0.75639	1.012000|1.012000	0.39366|0.39366	0.457000|0.457000	0.33378|0.33378	GCT|GGC		0.652	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		20	16	0	0	0	1	0	20	16				
GPR124	25960	broad.mit.edu	37	8	37688263	37688263	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:37688263C>T	ENST00000412232.2	+	7	767	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	GPR124_ENST00000315215.7_Missense_Mutation_p.P252S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	252	Ig-like.				central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCACCTCATCCCGTCCCTACG	0.657																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(754-756)Ccg>Tcg		G protein-coupled receptor 124							77.0	50.0	59.0					8																	37688263		2201	4299	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37688263C>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.754C>T	8.37:g.37688263C>T	ENSP00000406367:p.Pro252Ser					GPR124_ENST00000412232.2_Missense_Mutation_p.P252S	p.P252S			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	1117	+			252			Ig-like.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.754C>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	33	5.239610	0.95240	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.62105	0.06;0.05	5.19	5.19	0.71726	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.81328	-0.0982	10	0.56958	D	0.05	-17.5596	18.7204	0.91691	0.0:1.0:0.0:0.0	.	252;252	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	245;252;252	ENSP00000323508:P252S;ENSP00000406367:P252S	ENSP00000323508:P252S	P	+	1	0	GPR124	37807421	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.754000	0.85163	2.429000	0.82318	0.655000	0.94253	CCG		0.657	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	9	0	0	0	1	0	6	9				
MIR143HG	728264	broad.mit.edu	37	5	148810267	148810267	+	lincRNA	SNP	C	C	T	rs190323149		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148810267C>T	ENST00000602964.1	+	0	16796				MIR145_ENST00000384967.1_lincRNA|MIR143_ENST00000385300.1_RNA					MIR143 host gene (non-protein coding)																		GATGGGGATTCCTGGAAATAC	0.577											OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19509	0.001		0.0	False		,,,				2504	0.0					ENST00000384967.1																			0																				51.0	52.0	52.0					5																	148810267		1568	3582	5150			406937							g.chr5:148810267C>T			5q32	2013-02-13			ENSG00000249669	ENSG00000249669		"""Long non-coding RNAs"""	42872	non-coding RNA	RNA, long non-coding							Standard	NR_105059		Approved				OTTHUMG00000163464		5.37:g.148810267C>T			OREG0016915	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1720			NR_029686.1						0	59	+									RNA	SNP	ENST00000602964.1	37																																																																																						0.577	MIR143HG-009	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468028.1			13	12	0	0	0	1	0	13	12				
CD38	952	broad.mit.edu	37	4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:15835885A>G	ENST00000226279.3	+	4	682	c.545A>G	c.(544-546)aAc>aGc	p.N182S		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	182					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(544-546)aAc>aGc		CD38 molecule							96.0	93.0	94.0					4																	15835885		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835885A>G	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.545A>G	4.37:g.15835885A>G	ENSP00000226279:p.Asn182Ser						p.N182S	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			4	682	+			182					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.545A>G	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.297|8.297	0.819016|0.819016	0.16607|0.16607	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000226279;ENST00000510674|ENST00000540195	T;T|.	0.15487|.	2.42;2.42|.	5.31|5.31	-1.76|-1.76	0.08006|0.08006	.|.	0.627818|.	0.17906|.	N|.	0.158037|.	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	B|.	0.12630|.	0.006|.	B|.	0.09377|.	0.004|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|6	0.37606|0.41790	T|T	0.19|0.15	-14.0866|-14.0866	1.128|1.128	0.01739|0.01739	0.471:0.146:0.2424:0.1406|0.471:0.146:0.2424:0.1406	.|.	182|.	P28907|.	CD38_HUMAN|.	S|A	182;70|137	ENSP00000226279:N182S;ENSP00000423047:N70S|.	ENSP00000226279:N182S|ENSP00000442176:T137A	N|T	+|+	2|1	0|0	CD38|CD38	15444983|15444983	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.055000|-0.055000	0.11807|0.11807	-0.434000|-0.434000	0.07275|0.07275	-1.597000|-1.597000	0.00832|0.00832	AAC|ACA		0.388	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		14	56	0	0	0	1	0	14	56				
EHHADH	1962	broad.mit.edu	37	3	184910064	184910064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:184910064G>A	ENST00000231887.3	-	7	2197	c.2122C>T	c.(2122-2124)Ccc>Tcc	p.P708S	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.P612S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	708					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TCTTTCAGGGGAGGGTTTCCC	0.448																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(2122-2124)Ccc>Tcc		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						72.0	79.0	77.0					3																	184910064		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910064G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2122C>T	3.37:g.184910064G>A	ENSP00000231887:p.Pro708Ser					EHHADH_ENST00000456310.1_Missense_Mutation_p.P612S	p.P708S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	2197	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		708					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.2122C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063586	0.76187	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.88586	-2.4;-2.4	5.91	5.91	0.95273	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81743	-0.0793	10	0.02654	T	1	-17.2227	20.2985	0.98592	0.0:0.0:1.0:0.0	.	708	Q08426	ECHP_HUMAN	S	708;612	ENSP00000231887:P708S;ENSP00000387746:P612S	ENSP00000231887:P708S	P	-	1	0	EHHADH	186392758	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.472000	0.80996	2.793000	0.96121	0.655000	0.94253	CCC		0.448	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			29	63	0	0	0	1	0	29	63				
FFAR4	338557	broad.mit.edu	37	10	95347060	95347060	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:95347060C>T	ENST00000371483.4	+	4	884	c.828C>T	c.(826-828)ttC>ttT	p.F276F	FFAR4_ENST00000371481.4_Silent_p.F260F|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	276					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										AGCAGGACTTCCGGCTCTTCC	0.547																																						ENST00000371483.4																			0											c.(826-828)ttC>ttT		free fatty acid receptor 4							127.0	118.0	121.0					10																	95347060		2203	4300	6503	SO:0001819	synonymous_variant	338557							g.chr10:95347060C>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.828C>T	10.37:g.95347060C>T						FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F260F	p.F276F	NM_181745.3	NP_859529.2					4	884	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.828C>T	CCDS31248.1																																																																																				0.547	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		43	63	0	0	0	1	0	43	63				
ZNF883	169834	broad.mit.edu	37	9	115760001	115760001	+	lincRNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:115760001G>A	ENST00000427548.1	-	0	1812							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ACACTGGTAGGATTTTTCCTC	0.403																																						ENST00000427548.1																			0													zinc finger protein 883							95.0	95.0	95.0					9																	115760001		2141	4270	6411			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760001G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760001G>A										P0CG24	ZN883_HUMAN			0	1812	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.403	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		31	9	0	0	0	1	0	31	9				
PIK3CA	5290	broad.mit.edu	37	3	178937429	178937429	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:178937429A>G	ENST00000263967.3	+	12	1974	c.1817A>G	c.(1816-1818)tAc>tGc	p.Y606C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	606	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GACTGTAATTACCCAGATCCT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1816-1818)tAc>tGc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							66.0	60.0	62.0					3																	178937429		1817	4070	5887	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178937429A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1817A>G	3.37:g.178937429A>G	ENSP00000263967:p.Tyr606Cys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Y606C	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		12	1974	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		606			PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1817A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	18.71	3.683001	0.68157	.	.	ENSG00000121879	ENST00000263967	T	0.69306	-0.39	5.97	5.97	0.96955	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.124271	0.56097	D	0.000027	T	0.80065	0.4555	M	0.74389	2.26	0.80722	D	1	D	0.62365	0.991	P	0.61533	0.89	T	0.81212	-0.1035	10	0.52906	T	0.07	-11.989	16.4534	0.84003	1.0:0.0:0.0:0.0	.	606	P42336	PK3CA_HUMAN	C	606	ENSP00000263967:Y606C	ENSP00000263967:Y606C	Y	+	2	0	PIK3CA	180420123	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	2.546000	0.45778	2.285000	0.76669	0.477000	0.44152	TAC		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	32	0	0	0	1	0	10	32				
TRIT1	54802	broad.mit.edu	37	1	40313665	40313665	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40313665C>T	ENST00000316891.5	-	6	822	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E270K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000545233.1_Missense_Mutation_p.E24K|TRIT1_ENST00000537223.1_Silent_p.R3R|TRIT1_ENST00000537440.1_Silent_p.R3R|TRIT1_ENST00000441669.2_Missense_Mutation_p.E188K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	270					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACCTATTTTCCGAAACATTC	0.423																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(808-810)Gaa>Aaa		tRNA isopentenyltransferase 1							108.0	102.0	104.0					1																	40313665		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40313665C>T	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.808G>A	1.37:g.40313665C>T	ENSP00000321810:p.Glu270Lys					TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Silent_p.R3R|TRIT1_ENST00000537223.1_Silent_p.R3R|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_Missense_Mutation_p.E24K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E188K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E270K	p.E270K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	822	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	270					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.808G>A	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	9.732	1.162528	0.21538	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233	T;T	0.44881	0.91;0.92	5.97	5.07	0.68467	.	0.303176	0.41001	N	0.000966	T	0.29423	0.0733	L	0.40543	1.245	0.53688	D	0.999973	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.09377	0.002;0.001;0.004	T	0.09335	-1.0679	10	0.10636	T	0.68	-13.3353	8.4485	0.32856	0.0:0.7361:0.1274:0.1365	.	270;270;188	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	K	270;188;182;270;270;163;24	ENSP00000321810:E270K;ENSP00000361905:E270K	ENSP00000046894:E270K	E	-	1	0	TRIT1	40086252	0.814000	0.29104	0.883000	0.34634	0.127000	0.20565	1.501000	0.35693	1.541000	0.49316	0.655000	0.94253	GAA		0.423	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		14	29	0	0	0	1	0	14	29				
FGFR4	2264	broad.mit.edu	37	5	176520154	176520154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176520154G>A	ENST00000292408.4	+	9	1318	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	358					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GACCCCACATGGACCGCAGCA	0.642										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1072-1074)tGg>tAg		fibroblast growth factor receptor 4	Palifermin(DB00039)						48.0	39.0	42.0					5																	176520154		2202	4300	6502	SO:0001587	stop_gained	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520154G>A	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1073G>A	5.37:g.176520154G>A	ENSP00000292408:p.Trp358*	TSP Lung(9;0.080)				FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358*	p.W358*	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1318	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	358					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Nonsense_Mutation	SNP	ENST00000292408.4	37	c.1073G>A	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581165	0.86748	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000377207	.	.	.	5.18	5.18	0.71444	.	1.475670	0.03659	N	0.242312	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	7.8322	0.29349	0.0819:0.0:0.7559:0.1622	.	.	.	.	X	358;358;358;586	.	ENSP00000292408:W358X	W	+	2	0	FGFR4	176452760	0.987000	0.35691	0.946000	0.38457	0.022000	0.10575	2.561000	0.45905	2.424000	0.82194	0.561000	0.74099	TGG		0.642	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			14	16	0	0	0	1	0	14	16				
PDGFD	80310	broad.mit.edu	37	11	103866937	103866937	+	Silent	SNP	G	G	A	rs186220250		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:103866937G>A	ENST00000393158.2	-	3	545	c.366C>T	c.(364-366)acC>acT	p.T122T	PDGFD_ENST00000302251.5_Silent_p.T116T			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	122	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAATGGTACTGGTTTCGGATA	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18887	0.0		0.0	False		,,,				2504	0.0					ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(346-348)acC>acT		platelet derived growth factor D		G	,	3,4401	6.2+/-15.9	0,3,2199	130.0	119.0	123.0		366,348	0.4	1.0	11		123	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	PDGFD	NM_025208.4,NM_033135.3	,	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	,	122/371,116/365	103866937	3,12999	2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103866937G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.366C>T	11.37:g.103866937G>A						PDGFD_ENST00000393158.2_Silent_p.T122T	p.T116T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	3	799	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	122			CUB.		A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.348C>T	CCDS41703.1																																																																																				0.338	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		16	33	0	0	0	1	0	16	33				
EFCAB6	64800	broad.mit.edu	37	22	44028010	44028010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44028010G>A	ENST00000262726.7	-	19	2460	c.2207C>T	c.(2206-2208)cCt>cTt	p.P736L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	736					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAGCCTCCTAGGGAAAAGCTT	0.567																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2206-2208)cCt>cTt		EF-hand calcium binding domain 6							111.0	112.0	111.0					22																	44028010		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44028010G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2207C>T	22.37:g.44028010G>A	ENSP00000262726:p.Pro736Leu					EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584L	p.P736L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			19	2460	-		Ovarian(80;0.0247)|all_neural(38;0.025)	736					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2207C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279125	0.40294	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.06687	3.27;3.27	4.61	3.59	0.41128	EF-hand-like domain (1);	0.336197	0.26704	N	0.022930	T	0.17789	0.0427	L	0.46157	1.445	0.80722	D	1	D;P	0.89917	1.0;0.73	D;B	0.87578	0.998;0.257	T	0.03043	-1.1079	10	0.25751	T	0.34	-24.8156	8.8295	0.35076	0.1034:0.0:0.8966:0.0	.	584;736	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	L	584;736	ENSP00000379533:P584L;ENSP00000262726:P736L	ENSP00000262726:P736L	P	-	2	0	EFCAB6	42359343	0.993000	0.37304	0.847000	0.33407	0.521000	0.34408	2.737000	0.47393	1.280000	0.44463	0.655000	0.94253	CCT		0.567	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		49	82	0	0	0	1	0	49	82				
SPDEF	25803	broad.mit.edu	37	6	34512014	34512014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:34512014C>T	ENST00000374037.3	-	2	633	c.219G>A	c.(217-219)tgG>tgA	p.W73*	SPDEF_ENST00000544425.1_Nonsense_Mutation_p.W73*	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	73					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCTTGGCTGCCCAGCTGCTGT	0.672																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(217-219)tgG>tgA		SAM pointed domain containing ETS transcription factor							33.0	36.0	35.0					6																	34512014		2203	4299	6502	SO:0001587	stop_gained	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34512014C>T	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.219G>A	6.37:g.34512014C>T	ENSP00000363149:p.Trp73*					SPDEF_ENST00000544425.1_Nonsense_Mutation_p.W73*	p.W73*	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	633	-			73					B4DWH8|F5H778	Nonsense_Mutation	SNP	ENST00000374037.3	37	c.219G>A	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	C	37	6.299897	0.97453	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	.	.	.	5.12	5.12	0.69794	.	0.692432	0.14333	N	0.326223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6176	0.91308	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000363149:W73X	W	-	3	0	SPDEF	34619992	1.000000	0.71417	0.986000	0.45419	0.310000	0.27922	4.519000	0.60517	2.385000	0.81259	0.585000	0.79938	TGG		0.672	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		26	8	0	0	0	1	0	26	8				
PTPRS	5802	broad.mit.edu	37	19	5238951	5238951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:5238951G>A	ENST00000587303.1	-	12	1927	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	PTPRS_ENST00000588012.1_Missense_Mutation_p.R597W|PTPRS_ENST00000372412.4_Missense_Mutation_p.R611W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R597W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R597W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R597W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R610W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R606W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	610	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTGCGCTGCCGCACCACGGGG	0.721																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1831-1833)Cgg>Tgg		protein tyrosine phosphatase, receptor type, S							37.0	35.0	36.0					19																	5238951		2202	4297	6499	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5238951G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1828C>T	19.37:g.5238951G>A	ENSP00000467537:p.Arg610Trp					PTPRS_ENST00000587303.1_Missense_Mutation_p.R610W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R597W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R597W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R606W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R610W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R597W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R597W|PTPRS_ENST00000588552.1_5'UTR	p.R611W			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	13	2064	-			610			Fibronectin type-III 3.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1831C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575700	0.45902	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	3.3	0.762	0.18454	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.467340	0.18795	U	0.130951	T	0.65026	0.2652	M	0.72894	2.215	0.09310	N	1	D;D;D;D;D;D	0.89917	0.997;0.987;0.997;1.0;0.995;0.998	P;P;P;D;P;P	0.66497	0.827;0.827;0.827;0.944;0.586;0.719	T	0.55661	-0.8106	10	0.41790	T	0.15	.	10.7366	0.46128	0.0:0.0:0.4763:0.5237	.	610;597;601;597;610;623	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	623;611;610;610;610;606;597;610;601;597	ENSP00000361489:R611W;ENSP00000349932:R610W;ENSP00000262963:R606W;ENSP00000269907:R597W;ENSP00000327313:R597W	ENSP00000262963:R606W	R	-	1	2	PTPRS	5189951	0.002000	0.14202	0.766000	0.31476	0.610000	0.37248	0.025000	0.13577	0.536000	0.28733	0.305000	0.20034	CGG		0.721	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			19	17	0	0	0	1	0	19	17				
NPR2	4882	broad.mit.edu	37	9	35800800	35800800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800800C>T	ENST00000342694.2	+	6	1568	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	438					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACAATCCCCCCTGTGCCTTT	0.582																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1312-1314)cCc>cTc		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						115.0	96.0	103.0					9																	35800800		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800800C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1313C>T	9.37:g.35800800C>T	ENSP00000341083:p.Pro438Leu						p.P438L	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1568	+	all_epithelial(49;0.161)		438					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1313C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465636	0.43839	.	.	ENSG00000159899	ENST00000342694	T	0.42513	0.97	4.71	4.71	0.59529	.	0.000000	0.44902	D	0.000417	T	0.42832	0.1220	M	0.72479	2.2	0.80722	D	1	B;B	0.25609	0.13;0.059	B;B	0.25884	0.064;0.029	T	0.36456	-0.9747	10	0.13108	T	0.6	.	16.8305	0.85943	0.0:1.0:0.0:0.0	.	438;438	P20594-2;P20594	.;ANPRB_HUMAN	L	438	ENSP00000341083:P438L	ENSP00000341083:P438L	P	+	2	0	NPR2	35790800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.936000	0.48971	2.448000	0.82819	0.563000	0.77884	CCC		0.582	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			29	17	0	0	0	1	0	29	17				
CDK15	65061	broad.mit.edu	37	2	202677255	202677255	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:202677255G>A	ENST00000374598.4	+	4	418	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CDK15_ENST00000410091.3_Missense_Mutation_p.E89K|CDK15_ENST00000450471.2_Missense_Mutation_p.E140K|CDK15_ENST00000434439.1_Missense_Mutation_p.E140K|CDK15_ENST00000260967.2_Missense_Mutation_p.E89K|CDK15_ENST00000488419.1_3'UTR			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAATGCAGAGGAAGGAGTCCC	0.408																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(418-420)Gaa>Aaa		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						141.0	134.0	136.0					2																	202677255		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202677255G>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.418G>A	2.37:g.202677255G>A	ENSP00000363726:p.Glu140Lys					CDK15_ENST00000434439.1_Missense_Mutation_p.E140K|CDK15_ENST00000374598.4_Missense_Mutation_p.E140K|CDK15_ENST00000260967.2_Missense_Mutation_p.E89K|CDK15_ENST00000410091.3_Missense_Mutation_p.E89K|CDK15_ENST00000488419.1_3'UTR	p.E140K	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			4	504	+			140			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.418G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.339229	0.95783	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.77091	-0.2716	10	0.87932	D	0	-18.1081	19.9123	0.97029	0.0:0.0:1.0:0.0	.	140;140;140	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	K	89;89;140;140;140	ENSP00000386901:E89K;ENSP00000260967:E89K;ENSP00000406472:E140K;ENSP00000412775:E140K;ENSP00000363726:E140K	ENSP00000260967:E89K	E	+	1	0	CDK15	202385500	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	2.801000	0.96364	0.650000	0.86243	GAA		0.408	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			37	52	0	0	0	1	0	37	52				
STT3A	3703	broad.mit.edu	37	11	125478115	125478115	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:125478115C>T	ENST00000529196.1	+	10	1098	c.892C>T	c.(892-894)Ctt>Ttt	p.L298F	STT3A_ENST00000531491.1_Missense_Mutation_p.L206F|STT3A_ENST00000392708.4_Missense_Mutation_p.L298F			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	298					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATTTGAAGTTCTTTTCCGGAG	0.498																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(892-894)Ctt>Ttt		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							135.0	127.0	130.0					11																	125478115		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125478115C>T	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.892C>T	11.37:g.125478115C>T	ENSP00000436962:p.Leu298Phe					STT3A_ENST00000531491.1_Missense_Mutation_p.L206F|STT3A_ENST00000529196.1_Missense_Mutation_p.L298F	p.L298F	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	9	1051	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	298					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.892C>T	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339656	0.60963	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.48642	1.525	0.80722	D	1	B;B;B	0.22746	0.074;0.041;0.022	B;B;B	0.30716	0.098;0.097;0.119	T	0.60177	-0.7314	9	0.35671	T	0.21	-18.4238	19.0733	0.93148	0.0:1.0:0.0:0.0	.	206;206;298	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	F	298;298;206	.	ENSP00000376472:L298F	L	+	1	0	STT3A	124983325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.049000	0.57397	2.600000	0.87896	0.655000	0.94253	CTT		0.498	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		39	71	0	0	0	1	0	39	71				
ZNF878	729747	broad.mit.edu	37	19	12155188	12155188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12155188T>A	ENST00000547628.1	-	4	1165	c.1028A>T	c.(1027-1029)aAa>aTa	p.K343I	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.K390I	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCACACATTTTTTACATTC	0.388																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1168-1170)aAa>aTa		zinc finger protein 878							54.0	60.0	58.0					19																	12155188		2175	4289	6464	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155188T>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1028A>T	19.37:g.12155188T>A	ENSP00000447931:p.Lys343Ile					ZNF878_ENST00000547628.1_Missense_Mutation_p.K343I|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	p.K390I			C9JN71	ZN878_HUMAN			5	1168	-			343						Missense_Mutation	SNP	ENST00000547628.1	37	c.1169A>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	T	6.376	0.437475	0.12104	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.04194	3.68	1.29	0.0583	0.14327	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03783	0.0107	N	0.16307	0.4	0.09310	N	1	P	0.47034	0.889	B	0.44133	0.442	T	0.42361	-0.9456	9	0.62326	D	0.03	.	6.1367	0.20237	0.0:0.0:0.2597:0.7402	.	343	C9JN71	ZN878_HUMAN	I	343;390	ENSP00000447931:K343I	ENSP00000447931:K343I	K	-	2	0	AC022415.4;ZNF878	12016188	0.000000	0.05858	0.001000	0.08648	0.189000	0.23516	0.376000	0.20535	-0.282000	0.09128	0.254000	0.18369	AAA		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		21	43	0	0	0	1	0	21	43				
COL4A5	1287	broad.mit.edu	37	X	107823795	107823795	+	Silent	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823795T>G	ENST00000361603.2	+	14	1057	c.813T>G	c.(811-813)ccT>ccG	p.P271P	COL4A5_ENST00000328300.6_Silent_p.P271P	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	271	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTCCTGGACCTCCAGGGATAC	0.433									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(811-813)ccT>ccG		collagen, type IV, alpha 5							130.0	116.0	121.0					X																	107823795		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107823795T>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.813T>G	X.37:g.107823795T>G						COL4A5_ENST00000361603.2_Silent_p.P271P	p.P271P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			14	1057	+			271			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.813T>G	CCDS14543.1																																																																																				0.433	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			46	85	0	0	0	1	0	46	85				
MAN2A2	4122	broad.mit.edu	37	15	91448716	91448716	+	Missense_Mutation	SNP	G	G	A	rs200739221	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:91448716G>A	ENST00000559717.1	+	3	827	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	MAN2A2_ENST00000360468.3_Missense_Mutation_p.R123Q|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	123					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGGGGGGCCGGGGTCAGAAG	0.632																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(367-369)cGg>cAg		mannosidase, alpha, class 2A, member 2							29.0	34.0	32.0					15																	91448716		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91448716G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.368G>A	15.37:g.91448716G>A	ENSP00000452948:p.Arg123Gln					MAN2A2_ENST00000559717.1_Missense_Mutation_p.R123Q	p.R123Q	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		2	386	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		123					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.368G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496719	0.26861	.	.	ENSG00000196547	ENST00000360468	T	0.76968	-1.06	5.69	-1.27	0.09347	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.493291	0.23165	N	0.051199	T	0.58538	0.2129	L	0.29908	0.895	0.34573	D	0.713677	B;B	0.18741	0.03;0.0	B;B	0.13407	0.009;0.001	T	0.49293	-0.8955	10	0.15499	T	0.54	-18.6209	8.0098	0.30347	0.5479:0.1112:0.3409:0.0	.	123;123	P49641-1;P49641	.;MA2A2_HUMAN	Q	123	ENSP00000353655:R123Q	ENSP00000353655:R123Q	R	+	2	0	MAN2A2	89249720	0.053000	0.20554	0.961000	0.40146	0.993000	0.82548	0.406000	0.21032	-0.147000	0.11254	0.549000	0.68633	CGG		0.632	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		15	19	0	0	0	1	0	15	19				
RBBP5	5929	broad.mit.edu	37	1	205069075	205069075	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069075G>A	ENST00000264515.6	-	8	1011	c.870C>T	c.(868-870)ctC>ctT	p.L290L	RBBP5_ENST00000367164.1_Silent_p.L290L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	290					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCGTCCCATGGAGAATCTTCA	0.463																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(868-870)ctC>ctT		retinoblastoma binding protein 5							132.0	136.0	135.0					1																	205069075		2203	4300	6503	SO:0001819	synonymous_variant	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205069075G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.870C>T	1.37:g.205069075G>A						RBBP5_ENST00000367164.1_Silent_p.L290L	p.L290L	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		8	1011	-	Breast(84;0.0505)		290					A8K272|Q7Z6D8|Q8NDZ7	Silent	SNP	ENST00000264515.6	37	c.870C>T	CCDS30983.1																																																																																				0.463	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		37	110	0	0	0	1	0	37	110				
ZNF391	346157	broad.mit.edu	37	6	27369165	27369165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:27369165G>A	ENST00000244576.4	+	3	1561	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	339					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(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						AATGACTGTGGAAAAGCCTTC	0.403																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1015-1017)gGa>gAa		zinc finger protein 391							58.0	59.0	59.0					6																	27369165		2012	4220	6232	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369165G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.1016G>A	6.37:g.27369165G>A	ENSP00000244576:p.Gly339Glu						p.G339E	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	1561	+			339					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.1016G>A	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	4.334	0.061380	0.08339	.	.	ENSG00000124613	ENST00000244576	T	0.07114	3.22	3.91	2.93E-4	0.14042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	M	0.76938	2.355	0.21652	N	0.999606	B	0.26845	0.161	B	0.25759	0.063	T	0.31223	-0.9951	9	0.59425	D	0.04	.	7.3629	0.26756	0.4102:0.0:0.5898:0.0	.	339	Q9UJN7	ZN391_HUMAN	E	339	ENSP00000244576:G339E	ENSP00000244576:G339E	G	+	2	0	ZNF391	27477144	0.937000	0.31787	0.304000	0.25085	0.139000	0.21198	1.255000	0.32909	-0.422000	0.07405	-0.262000	0.10625	GGA		0.403	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		27	17	0	0	0	1	0	27	17				
CD79A	973	broad.mit.edu	37	19	42383095	42383095	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:42383095C>T	ENST00000221972.3	+	2	300	c.115C>T	c.(115-117)Cca>Tca	p.P39S	CD79A_ENST00000444740.2_Missense_Mutation_p.P39S	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	39	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACAAGGTCCCAGCATCATT	0.632			"""O, S"""		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"""O, S"""	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(115-117)Cca>Tca		CD79a molecule, immunoglobulin-associated alpha							59.0	50.0	53.0					19																	42383095		2203	4300	6503	SO:0001583	missense	973				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383095C>T	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.115C>T	19.37:g.42383095C>T	ENSP00000221972:p.Pro39Ser					CD79A_ENST00000444740.2_Missense_Mutation_p.P39S	p.P39S	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			2	300	+			39			Ig-like C2-type.		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.115C>T	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084543	0.55861	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.68025	-0.3	4.53	3.48	0.39840	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106388	0.39341	N	0.001387	T	0.80270	0.4592	M	0.84156	2.68	0.09310	N	1	D;D	0.69078	0.997;0.993	D;P	0.70016	0.967;0.782	T	0.71062	-0.4701	10	0.66056	D	0.02	-7.5596	10.7566	0.46241	0.0:0.8081:0.1919:0.0	.	39;39	P11912;A0N775	CD79A_HUMAN;.	S	39	ENSP00000221972:P39S	ENSP00000221972:P39S	P	+	1	0	CD79A	47074935	0.069000	0.21087	0.009000	0.14445	0.022000	0.10575	3.577000	0.53885	1.495000	0.48549	0.650000	0.86243	CCA		0.632	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			21	33	0	0	0	1	0	21	33				
SIGLEC8	27181	broad.mit.edu	37	19	51961241	51961241	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:51961241C>T	ENST00000321424.3	-	1	467	c.401G>A	c.(400-402)aGt>aAt	p.S134N	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S134N|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S134N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	134					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGATTTGTAACTCCATTTCAT	0.502																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(400-402)aGt>aAt		sialic acid binding Ig-like lectin 8							121.0	123.0	122.0					19																	51961241		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961241C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.401G>A	19.37:g.51961241C>T	ENSP00000321077:p.Ser134Asn					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S134N|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S134N	p.S134N	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	467	-		all_neural(266;0.0199)	134					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.401G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.269447	0.00259	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.44083	0.93;0.93;1.74	2.56	-5.13	0.02884	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.721305	0.10965	N	0.614531	T	0.12944	0.0314	N	0.03050	-0.425	0.09310	N	1	B;B;B	0.31485	0.325;0.0;0.003	B;B;B	0.31390	0.129;0.001;0.008	T	0.17077	-1.0381	10	0.25106	T	0.35	.	2.0185	0.03504	0.1459:0.429:0.1467:0.2784	.	134;134;134	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	N	134	ENSP00000389142:S134N;ENSP00000321077:S134N;ENSP00000339448:S134N	ENSP00000321077:S134N	S	-	2	0	SIGLEC8	56653053	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.472000	0.06623	-1.987000	0.00982	-0.506000	0.04501	AGT		0.502	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		43	87	0	0	0	1	0	43	87				
FAT3	120114	broad.mit.edu	37	11	92088500	92088500	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:92088500G>A	ENST00000298047.6	+	1	3239	c.3222G>A	c.(3220-3222)agG>agA	p.R1074R	FAT3_ENST00000525166.1_Silent_p.R924R|FAT3_ENST00000409404.2_Silent_p.R1074R|FAT3_ENST00000541502.1_Silent_p.R1074R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1074	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCCGGAAGGGATGGAGAGA	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(3220-3222)agG>agA		FAT atypical cadherin 3							108.0	105.0	106.0					11																	92088500		2073	4212	6285	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088500G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3222G>A	11.37:g.92088500G>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000541502.1_Silent_p.R1074R|FAT3_ENST00000525166.1_Silent_p.R924R|FAT3_ENST00000409404.2_Silent_p.R1074R	p.R1074R			Q8TDW7	FAT3_HUMAN			1	3239	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1074			Cadherin 10.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.3222G>A																																																																																					0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		19	25	0	0	0	1	0	19	25				
ARR3	407	broad.mit.edu	37	X	69502097	69502097	+	IGR	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:69502097G>A	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Nonsense_Mutation_p.W10*|RAB41_ENST00000276066.4_Nonsense_Mutation_p.W10*	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACGAGGCCTGGATGGAGGCCG	0.572																																						ENST00000374473.2																			0				breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						c.(28-30)tgG>tgA		RAB41, member RAS oncogene family							83.0	68.0	73.0					X																	69502097		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502097G>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502097G>A						RAB41_ENST00000276066.4_Nonsense_Mutation_p.W10*	p.W10*			Q5JT25	RAB41_HUMAN			1	76	+			10					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Nonsense_Mutation	SNP	ENST00000307959.8	37	c.30G>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124420	0.37533	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	.	.	.	3.32	-0.945	0.10388	.	0.359286	0.17664	U	0.166207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.2172	0.59867	0.0:0.501:0.499:0.0	.	.	.	.	X	10	.	ENSP00000276066:W10X	W	+	3	0	RAB41	69418822	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.090000	0.15025	-0.346000	0.08312	-0.218000	0.12543	TGG		0.572	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		36	54	0	0	0	1	0	36	54				
EZH1	2145	broad.mit.edu	37	17	40879703	40879703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:40879703G>A	ENST00000428826.2	-	4	317	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	EZH1_ENST00000415827.2_Nonsense_Mutation_p.Q66*|EZH1_ENST00000590078.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.P7L|EZH1_ENST00000585893.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.Q66*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	66					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAACAGGTTGGACACGAAGC	0.423																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(196-198)Caa>Taa		enhancer of zeste homolog 1 (Drosophila)							94.0	96.0	95.0					17																	40879703		2203	4300	6503	SO:0001587	stop_gained	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40879703G>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.196C>T	17.37:g.40879703G>A	ENSP00000404658:p.Gln66*					EZH1_ENST00000590078.1_5'UTR|EZH1_ENST00000592743.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.Q66*|EZH1_ENST00000435174.1_Missense_Mutation_p.P7L	p.Q66*			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	4	317	-		Breast(137;0.00104)	66					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	ENST00000428826.2	37	c.196C>T	CCDS32659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.447348|5.447348	0.96205|0.96205	.|.	.|.	ENSG00000108799|ENSG00000108799	ENST00000435174|ENST00000264646;ENST00000428826;ENST00000415827	D|.	0.93659|.	-3.26|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.70254|.	0.3203|.	.|.	.|.	.|.	0.49687|0.49687	D|D	0.999814|0.999814	B|.	0.17038|.	0.02|.	B|.	0.21360|.	0.034|.	T|.	0.66909|.	-0.5804|.	8|.	0.66056|0.29301	D|T	0.02|0.29	.|.	17.5467|17.5467	0.87864|0.87864	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	7|.	Q92800-5|.	.|.	L|X	7|69;66;66	ENSP00000404071:P7L|.	ENSP00000404071:P7L|ENSP00000264646:Q69X	P|Q	-|-	2|1	0|0	EZH1|EZH1	38133229|38133229	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.977000|0.977000	0.68977|0.68977	8.613000|8.613000	0.90913|0.90913	2.539000|2.539000	0.85634|0.85634	0.557000|0.557000	0.71058|0.71058	CCA|CAA		0.423	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		33	54	0	0	0	1	0	33	54				
DNAJC13	23317	broad.mit.edu	37	3	132207165	132207165	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:132207165C>T	ENST00000260818.6	+	30	3539	c.3291C>T	c.(3289-3291)atC>atT	p.I1097I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1097				I -> T (in Ref. 6; BAC86133). {ECO:0000305}.	osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGACCCTATCCTTGTTGAGA	0.338																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3289-3291)atC>atT		DnaJ (Hsp40) homolog, subfamily C, member 13							92.0	85.0	88.0					3																	132207165		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132207165C>T	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3291C>T	3.37:g.132207165C>T							p.I1097I	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			30	3539	+			1097	I -> T (in Ref. 6; BAC86133).				Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.3291C>T	CCDS33857.1																																																																																				0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		20	36	0	0	0	1	0	20	36				
SLC27A5	10998	broad.mit.edu	37	19	59010871	59010871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:59010871C>T	ENST00000263093.2	-	7	1764	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468E|SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	552					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAAGGTGTCCCCGAGGCGGTC	0.667																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1654-1656)gGg>gAg		solute carrier family 27 (fatty acid transporter), member 5							41.0	41.0	41.0					19																	59010871		2203	4299	6502	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010871C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1655G>A	19.37:g.59010871C>T	ENSP00000263093:p.Gly552Glu					SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468E	p.G552E	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1764	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	552					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1655G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219468	0.95139	.	.	ENSG00000083807	ENST00000263093	T	0.50001	0.76	5.26	5.26	0.73747	AMP-dependent synthetase/ligase (1);	0.053037	0.85682	D	0.000000	T	0.80088	0.4559	H	0.97852	4.09	0.50313	D	0.999867	D	0.89917	1.0	D	0.91635	0.999	D	0.86967	0.2095	10	0.87932	D	0	-24.5005	14.7386	0.69437	0.0:1.0:0.0:0.0	.	552	Q9Y2P5	S27A5_HUMAN	E	552	ENSP00000263093:G552E	ENSP00000263093:G552E	G	-	2	0	SLC27A5	63702683	1.000000	0.71417	0.450000	0.26969	0.983000	0.72400	6.947000	0.75959	2.628000	0.89032	0.462000	0.41574	GGG		0.667	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		15	23	0	0	0	1	0	15	23				
EFCAB6	64800	broad.mit.edu	37	22	44022347	44022347	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:44022347T>C	ENST00000262726.7	-	20	2698	c.2445A>G	c.(2443-2445)gaA>gaG	p.E815E	EFCAB6_ENST00000396231.2_Silent_p.E663E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	815					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTTGAGGCGCTTCATCTGTTC	0.478																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2443-2445)gaA>gaG		EF-hand calcium binding domain 6							89.0	82.0	84.0					22																	44022347		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44022347T>C	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2445A>G	22.37:g.44022347T>C						EFCAB6_ENST00000396231.2_Silent_p.E663E	p.E815E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			20	2698	-		Ovarian(80;0.0247)|all_neural(38;0.025)	815					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.2445A>G	CCDS14049.1																																																																																				0.478	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		10	32	0	0	0	1	0	10	32				
GRK6	2870	broad.mit.edu	37	5	176859793	176859793	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:176859793C>T	ENST00000355472.5	+	5	594	c.426C>T	c.(424-426)ttC>ttT	p.F142F	GRK6_ENST00000528793.1_Silent_p.F142F|GRK6_ENST00000355958.5_Silent_p.F142F|GRK6_ENST00000507633.1_Silent_p.F142F|GRK6_ENST00000393576.3_Silent_p.F142F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	142	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACCTTTTCCAGGAACTCA	0.637																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(424-426)ttC>ttT		G protein-coupled receptor kinase 6							23.0	26.0	25.0					5																	176859793		2202	4300	6502	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859793C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.426C>T	5.37:g.176859793C>T						GRK6_ENST00000528793.1_Silent_p.F142F|GRK6_ENST00000355958.5_Silent_p.F142F|GRK6_ENST00000393576.3_Silent_p.F142F|GRK6_ENST00000507633.1_Silent_p.F142F	p.F142F	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	594	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	142			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.426C>T	CCDS34303.1																																																																																				0.637	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		5	13	0	0	0	1	0	5	13				
ATP2A2	488	broad.mit.edu	37	12	110783811	110783811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:110783811C>T	ENST00000539276.2	+	19	2856	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	ATP2A2_ENST00000395494.2_Missense_Mutation_p.S889F|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	916					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCAGCTTGTCCGAAAACCAG	0.572																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38	GRCh37	CM011281	ATP2A2	M		c.(2665-2667)tCc>tTc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							182.0	137.0	152.0					12																	110783811		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783811C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2747C>T	12.37:g.110783811C>T	ENSP00000440045:p.Ser916Phe					ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F	p.S889F			P16615	AT2A2_HUMAN			18	3229	+			916					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2666C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309316	0.81247	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.96885	-4.16;-4.16;-4.16	6.17	6.17	0.99709	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.128057	0.64402	D	0.000008	D	0.98874	0.9619	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.986;0.992	D	0.98911	1.0780	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	889;916;916	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	F	916;889;916	ENSP00000311186:S916F;ENSP00000378872:S889F;ENSP00000440045:S916F	ENSP00000311186:S916F	S	+	2	0	ATP2A2	109268194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC		0.572	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		29	84	0	0	0	1	0	29	84				
ZFP69	339559	broad.mit.edu	37	1	40961128	40961128	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40961128C>T	ENST00000372706.1	+	6	1984	c.978C>T	c.(976-978)ccC>ccT	p.P326P	ZFP69_ENST00000372705.3_Silent_p.P326P|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GTGAGAAACCCTTTGAATGTG	0.433																																						ENST00000372706.1																			0											c.(976-978)ccC>ccT		ZFP69 zinc finger protein							76.0	71.0	73.0					1																	40961128		2203	4300	6503	SO:0001819	synonymous_variant	339559							g.chr1:40961128C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.978C>T	1.37:g.40961128C>T						RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.P326P	p.P326P							6	1984	+								Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.978C>T	CCDS30686.1																																																																																				0.433	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		26	24	0	0	0	1	0	26	24				
KIAA0319	9856	broad.mit.edu	37	6	24596622	24596622	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596622C>T	ENST00000378214.3	-	3	804	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G85S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGATGGGGCCCATCTTCTTG	0.597																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(253-255)Ggc>Agc		KIAA0319							56.0	63.0	61.0					6																	24596622		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596622C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.280G>A	6.37:g.24596622C>T	ENSP00000367459:p.Gly94Ser					KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94S	p.G85S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	895	-			94			MANSC.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.253G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225819	0.39300	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06371	3.33;3.34;3.31;3.33;3.33	3.9	2.09	0.27110	Seven cysteines (1);Seven cysteines, N-terminal (1);	0.826220	0.10721	N	0.641753	T	0.03178	0.0093	L	0.57536	1.79	0.18873	N	0.999981	P;P;P	0.42692	0.51;0.787;0.518	B;B;B	0.41510	0.185;0.359;0.129	T	0.40270	-0.9572	10	0.39692	T	0.17	-7.893	9.1935	0.37213	0.0:0.8209:0.0:0.1791	.	94;85;94	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	S	94;85;49;94;94	ENSP00000439700:G94S;ENSP00000442403:G85S;ENSP00000401086:G49S;ENSP00000367459:G94S;ENSP00000437656:G94S	ENSP00000367459:G94S	G	-	1	0	KIAA0319	24704601	0.752000	0.28338	0.125000	0.21846	0.982000	0.71751	2.594000	0.46189	0.304000	0.22809	0.514000	0.50259	GGC		0.597	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		26	19	0	0	0	1	0	26	19				
MYH1	4619	broad.mit.edu	37	17	10401082	10401082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:10401082G>A	ENST00000226207.5	-	31	4428	c.4334C>T	c.(4333-4335)gCc>gTc	p.A1445V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1445			A -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGTCCAGGGCGGCACAGGC	0.448																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4333-4335)gCc>gTc		myosin, heavy chain 1, skeletal muscle, adult							129.0	124.0	126.0					17																	10401082		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10401082G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4334C>T	17.37:g.10401082G>A	ENSP00000226207:p.Ala1445Val					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.A1445V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			31	4428	-			1445		A -> T (in a breast cancer sample; somatic mutation).			Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4334C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588643	0.46110	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.83755	-1.76	5.65	5.65	0.86999	Myosin tail (1);	0.000000	0.42964	U	0.000638	D	0.91026	0.7177	H	0.95328	3.655	0.46901	D	0.999246	B	0.24920	0.114	B	0.37091	0.241	D	0.89324	0.3642	10	0.48119	T	0.1	.	20.073	0.97731	0.0:0.0:1.0:0.0	.	1445	P12882	MYH1_HUMAN	V	1445;534	ENSP00000226207:A1445V	ENSP00000226207:A1445V	A	-	2	0	MYH1	10341807	0.711000	0.27906	0.994000	0.49952	0.681000	0.39784	2.306000	0.43673	2.811000	0.96726	0.655000	0.94253	GCC		0.448	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		34	68	0	0	0	1	0	34	68				
CDH5	1003	broad.mit.edu	37	16	66436580	66436580	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:66436580G>A	ENST00000341529.3	+	12	2011	c.1863G>A	c.(1861-1863)cgG>cgA	p.R621R	CDH5_ENST00000539168.1_Silent_p.R60R	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	621					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCTTCCTGCGGCGGCGGCTCC	0.706																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1861-1863)cgG>cgA		cadherin 5, type 2 (vascular endothelium)							10.0	12.0	11.0					16																	66436580		2125	4162	6287	SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436580G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1863G>A	16.37:g.66436580G>A						CDH5_ENST00000539168.1_Silent_p.R60R	p.R621R	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2011	+		Ovarian(137;0.0955)	621					Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.1863G>A	CCDS10804.1																																																																																				0.706	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		9	7	0	0	0	1	0	9	7				
KCNMB1	3779	broad.mit.edu	37	5	169805801	169805801	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:169805801G>A	ENST00000274629.4	-	4	925	c.483C>T	c.(481-483)ctC>ctT	p.L161L	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	161					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TGGGCCAGAAGAGGGAGAAGA	0.607																																						ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(481-483)ctC>ctT		potassium large conductance calcium-activated channel, subfamily M, beta member 1							80.0	80.0	80.0					5																	169805801		2203	4300	6503	SO:0001819	synonymous_variant	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805801G>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.483C>T	5.37:g.169805801G>A						KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	p.L161L	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	925	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	161					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Silent	SNP	ENST00000274629.4	37	c.483C>T	CCDS4373.1																																																																																				0.607	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			33	27	0	0	0	1	0	33	27				
ZNF544	27300	broad.mit.edu	37	19	58758138	58758138	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:58758138G>A	ENST00000596652.1	+	5	456	c.222G>A	c.(220-222)agG>agA	p.R74R	ZNF544_ENST00000333581.5_Silent_p.R74R|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599227.1_Missense_Mutation_p.G63S|ZNF544_ENST00000594384.1_Missense_Mutation_p.G63S|ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Silent_p.R74R|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000596825.1_Missense_Mutation_p.G63S|ZNF544_ENST00000269829.4_Silent_p.R74R|ZNF544_ENST00000595981.1_Silent_p.R74R|ZNF544_ENST00000600044.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACCTGTGCAGGGCAGAGCAGG	0.572																																						ENST00000599227.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(187-189)Ggc>Agc		zinc finger protein 544							101.0	94.0	96.0					19																	58758138		2203	4300	6503	SO:0001819	synonymous_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58758138G>A	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.222G>A	19.37:g.58758138G>A						ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Silent_p.R74R|ZNF544_ENST00000596825.1_Missense_Mutation_p.G63S|ZNF544_ENST00000333581.5_Silent_p.R74R|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Silent_p.R74R|ZNF544_ENST00000269829.4_Silent_p.R74R|ZNF544_ENST00000594384.1_Missense_Mutation_p.G63S|ZNF544_ENST00000596652.1_Silent_p.R74R|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR	p.G63S			Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	771	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	0			KRAB.		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.187G>A	CCDS12973.1																																																																																				0.572	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		25	56	0	0	0	1	0	25	56				
MAGEA11	4110	broad.mit.edu	37	X	148797757	148797757	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:148797757G>A	ENST00000355220.5	+	5	713	c.611G>A	c.(610-612)gGg>gAg	p.G204E	MAGEA11_ENST00000333104.4_Missense_Mutation_p.G175E	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	204						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GAAAAGGAGGGGCCAAGTACC	0.498																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(610-612)gGg>gAg		melanoma antigen family A, 11							94.0	87.0	89.0					X																	148797757		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797757G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.611G>A	X.37:g.148797757G>A	ENSP00000347358:p.Gly204Glu					MAGEA11_ENST00000333104.4_Missense_Mutation_p.G175E	p.G204E	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	713	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		204					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.611G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	9.641	1.139042	0.21205	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.04156	3.69;3.69;3.69	0.871	0.871	0.19107	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.10208	0.0250	M	0.66378	2.025	0.09310	N	1	B;B	0.24721	0.033;0.11	B;B	0.41135	0.236;0.348	T	0.37103	-0.9720	8	0.38643	T	0.18	.	.	.	.	.	175;204	G5E962;P43364	.;MAGAB_HUMAN	E	175;175;204	ENSP00000391496:G175E;ENSP00000328177:G175E;ENSP00000347358:G204E	ENSP00000328177:G175E	G	+	2	0	MAGEA11	148576648	0.000000	0.05858	0.136000	0.22124	0.316000	0.28119	-0.130000	0.10498	0.704000	0.31869	0.429000	0.28392	GGG		0.498	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		64	58	0	0	0	1	0	64	58				
MROH7	374977	broad.mit.edu	37	1	55175835	55175835	+	Missense_Mutation	SNP	C	C	T	rs200978433		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:55175835C>T	ENST00000421030.2	+	24	4232	c.3947C>T	c.(3946-3948)tCc>tTc	p.S1316F	MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.S834F|MROH7_ENST00000409996.1_Missense_Mutation_p.S884F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1316						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCACTGGGCTCCTGGAAGATG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18829	0.0		0.001	False		,,,				2504	0.0					ENST00000421030.2																			0											c.(3946-3948)tCc>tTc		maestro heat-like repeat family member 7							38.0	39.0	39.0					1																	55175835		1965	4151	6116	SO:0001583	missense	374977							g.chr1:55175835C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3947C>T	1.37:g.55175835C>T	ENSP00000396622:p.Ser1316Phe					MROH7_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.S834F|MROH7_ENST00000409996.1_Missense_Mutation_p.S884F	p.S1316F	NM_001039464.2	NP_001034553.2					24	4232	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.3947C>T	CCDS41342.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	18.03	3.531295	0.64972	.	.	ENSG00000184313	ENST00000421030;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.17854	4.36;4.22;4.11;2.25	5.21	3.28	0.37604	.	.	.	.	.	T	0.16214	0.0390	L	0.51422	1.61	0.29319	N	0.867471	B;B	0.24368	0.102;0.004	B;B	0.23852	0.049;0.005	T	0.15435	-1.0437	9	0.87932	D	0	.	6.4355	0.21821	0.1795:0.7268:0.0:0.0937	.	1316;1315	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	F	1316;884;834;385	ENSP00000396622:S1316F;ENSP00000387048:S884F;ENSP00000401130:S834F;ENSP00000360336:S385F	ENSP00000360336:S385F	S	+	2	0	HEATR8	54948423	0.758000	0.28405	0.798000	0.32154	0.996000	0.88848	0.919000	0.28692	0.535000	0.28714	0.586000	0.80456	TCC		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		7	21	0	0	0	1	0	7	21				
TTN	7273	broad.mit.edu	37	2	179596984	179596984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179596984G>A	ENST00000591111.1	-	55	15985	c.15761C>T	c.(15760-15762)cCt>cTt	p.P5254L	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P4327L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P5571L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12073	Ig-like 33.				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)			TTTAATTGGAGGGGTACCAGT	0.428																																						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.(16711-16713)cCt>cTt		titin							127.0	123.0	124.0					2																	179596984		1873	4130	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596984G>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.15761C>T	2.37:g.179596984G>A	ENSP00000465570:p.Pro5254Leu					TTN_ENST00000342992.6_Missense_Mutation_p.P4327L|TTN_ENST00000591111.1_Missense_Mutation_p.P5254L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.P5571L	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)		57	16936	-			5254			Ig-like 36.		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.16712C>T		.	.	.	.	.	.	.	.	.	.	G	14.08	2.429883	0.43122	.	.	ENSG00000155657	ENST00000342992	T	0.74526	-0.85	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91556	0.7333	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92893	0.6333	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5254	Q8WZ42	TITIN_HUMAN	L	4327	ENSP00000343764:P4327L	ENSP00000343764:P4327L	P	-	2	0	TTN	179305229	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.705000	0.74644	2.941000	0.99782	0.655000	0.94253	CCT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	87	0	0	0	1	0	33	87				
MDC1	9656	broad.mit.edu	37	6	30671662	30671662	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:30671662G>A	ENST00000376406.3	-	10	5945	c.5298C>T	c.(5296-5298)tcC>tcT	p.S1766S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.S1502S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1766	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGCTGTAAGGGATTCAGCTG	0.532								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5296-5298)tcC>tcT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							73.0	68.0	70.0					6																	30671662		2203	4300	6503	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671662G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5298C>T	6.37:g.30671662G>A						MDC1_ENST00000376405.2_Silent_p.S1502S|MDC1-AS1_ENST00000442150.1_RNA	p.S1766S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5945	-			1766			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.5298C>T	CCDS34384.1																																																																																				0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		30	24	0	0	0	1	0	30	24				
YES1	7525	broad.mit.edu	37	18	724563	724563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:724563G>A	ENST00000584307.1	-	12	1663	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L	YES1_ENST00000314574.4_Missense_Mutation_p.P498L|YES1_ENST00000577961.1_Missense_Mutation_p.P503L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GAGGGATTCTGGACAGCCCTG	0.418																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1492-1494)cCa>cTa		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						94.0	94.0	94.0					18																	724563		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:724563G>A	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1493C>T	18.37:g.724563G>A	ENSP00000462468:p.Pro498Leu					YES1_ENST00000577961.1_Missense_Mutation_p.P503L|YES1_ENST00000314574.4_Missense_Mutation_p.P498L	p.P498L			P07947	YES_HUMAN			12	1663	-			498			Protein kinase.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.1493C>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563002	0.86335	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.12147	2.71	4.95	4.95	0.65309	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59107	-0.7516	10	0.87932	D	0	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	498	P07947	YES_HUMAN	L	498	ENSP00000324740:P498L	ENSP00000324740:P498L	P	-	2	0	YES1	714563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.510000	0.98004	2.468000	0.83385	0.591000	0.81541	CCA		0.418	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		32	41	0	0	0	1	0	32	41				
FCRL4	83417	broad.mit.edu	37	1	157545400	157545400	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:157545400C>T	ENST00000271532.1	-	12	1597	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	488					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				ACTGAGACATCCTGAAATGGA	0.428																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.e12-1		Fc receptor-like 4							161.0	146.0	151.0					1																	157545400		2203	4300	6503	SO:0001630	splice_region_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157545400C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1462-1G>A	1.37:g.157545400C>T						FCRL4_ENST00000448509.2_5'UTR	p.D488_splice	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			12	1597	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	488					Q96PJ3|Q96RE0	Splice_Site	SNP	ENST00000271532.1	37	c.1461_splice	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455671	0.12283	.	.	ENSG00000163518	ENST00000271532	T	0.19669	2.13	4.35	-6.83	0.01693	.	3.040060	0.02159	N	0.058639	T	0.04588	0.0125	L	0.36672	1.1	0.09310	N	1	B	0.23735	0.09	B	0.21360	0.034	T	0.18398	-1.0338	10	0.38643	T	0.18	.	6.3789	0.21523	0.1933:0.1514:0.5717:0.0837	.	488	Q96PJ5	FCRL4_HUMAN	N	488	ENSP00000271532:D488N	ENSP00000271532:D488N	D	-	1	0	FCRL4	155812024	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.647000	0.00404	-1.833000	0.01195	-0.302000	0.09304	GAT		0.428	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282	Missense_Mutation	11	47	0	0	0	1	0	11	47				
ZNF146	7705	broad.mit.edu	37	19	36727789	36727789	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:36727789C>T	ENST00000443387.2	+	4	1439	c.447C>T	c.(445-447)atC>atT	p.I149I	ZNF146_ENST00000456324.1_Silent_p.I149I|ZNF565_ENST00000355114.5_Intron	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	149					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					ATGAGAAAATCCATATTGGAG	0.423																																						ENST00000456324.1																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(445-447)atC>atT		zinc finger protein 146							76.0	80.0	79.0					19																	36727789		2203	4300	6503	SO:0001819	synonymous_variant	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727789C>T	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.447C>T	19.37:g.36727789C>T						ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Silent_p.I149I	p.I149I	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN			3	1896	+	Esophageal squamous(110;0.162)		149					Q2TB94	Silent	SNP	ENST00000443387.2	37	c.447C>T	CCDS12492.1																																																																																				0.423	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		27	36	0	0	0	1	0	27	36				
IGHV3-20	28445	broad.mit.edu	37	14	106668031	106668031	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:106668031C>T	ENST00000390606.2	-	0	64				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		GCCCAAACTCCATGGCGAGTC	0.507																																						ENST00000390606.2																			0																				126.0	116.0	119.0					14																	106668031		1863	4103	5966			28445							g.chr14:106668031C>T	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106668031C>T														0	64	-									RNA	SNP	ENST00000390606.2	37																																																																																						0.507	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		62	95	0	0	0	1	0	62	95				
CASR	846	broad.mit.edu	37	3	121981200	121981200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:121981200G>A	ENST00000490131.1	+	4	1690	c.1318G>A	c.(1318-1320)Ggg>Agg	p.G440R	CASR_ENST00000296154.5_Missense_Mutation_p.G440R|CASR_ENST00000498619.1_Missense_Mutation_p.G440R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	440					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGCTTACCTGGGAGAGGGCT	0.448																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1318-1320)Ggg>Agg		calcium-sensing receptor	Cinacalcet(DB01012)						97.0	97.0	97.0					3																	121981200		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121981200G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1318G>A	3.37:g.121981200G>A	ENSP00000418685:p.Gly440Arg					CASR_ENST00000296154.5_Missense_Mutation_p.G440R|CASR_ENST00000490131.1_Missense_Mutation_p.G440R	p.G440R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	1756	+			440					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1318G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927330	0.73327	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.86297	-2.1;-2.1;-2.1	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91898	0.5529	10	0.51188	T	0.08	.	18.9806	0.92754	0.0:0.0:1.0:0.0	.	440;440	E7ENE0;P41180	.;CASR_HUMAN	R	440	ENSP00000418685:G440R;ENSP00000420194:G440R;ENSP00000296154:G440R	ENSP00000296154:G440R	G	+	1	0	CASR	123463890	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GGG		0.448	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		37	56	0	0	0	1	0	37	56				
SMC2	10592	broad.mit.edu	37	9	106891979	106891979	+	Silent	SNP	T	T	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:106891979T>C	ENST00000286398.7	+	21	3132	c.2844T>C	c.(2842-2844)ttT>ttC	p.F948F	SMC2_ENST00000303219.8_Silent_p.F948F|SMC2_ENST00000374787.3_Silent_p.F948F|SMC2_ENST00000374793.3_Silent_p.F948F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	948					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GACACCTCTTTGGCCAACCCA	0.373																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2842-2844)ttT>ttC		structural maintenance of chromosomes 2							130.0	141.0	138.0					9																	106891979		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106891979T>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2844T>C	9.37:g.106891979T>C						SMC2_ENST00000303219.8_Silent_p.F948F|SMC2_ENST00000374793.3_Silent_p.F948F|SMC2_ENST00000374787.3_Silent_p.F948F	p.F948F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			21	3132	+			948					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.2844T>C	CCDS35086.1																																																																																				0.373	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			84	22	0	0	0	1	0	84	22				
ENPP2	5168	broad.mit.edu	37	8	120577144	120577144	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:120577144C>T	ENST00000075322.6	-	23	2241	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	ENPP2_ENST00000259486.6_Missense_Mutation_p.R780K|ENPP2_ENST00000427067.2_Missense_Mutation_p.R749K|ENPP2_ENST00000522826.1_Missense_Mutation_p.R753K|ENPP2_ENST00000522167.1_Missense_Mutation_p.R363K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	728					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTCCATTTCTTTCCGAAGC	0.358																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2245-2247)aGa>aAa		ectonucleotide pyrophosphatase/phosphodiesterase 2							188.0	153.0	165.0					8																	120577144		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120577144C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2183G>A	8.37:g.120577144C>T	ENSP00000075322:p.Arg728Lys					ENPP2_ENST00000259486.6_Missense_Mutation_p.R780K|ENPP2_ENST00000522826.1_Missense_Mutation_p.R753K|ENPP2_ENST00000075322.6_Missense_Mutation_p.R728K|ENPP2_ENST00000522167.1_Missense_Mutation_p.R363K	p.R749K			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	2426	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		728					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2246G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282977	0.59867	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.52	5.52	0.82312	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.091123	0.85682	D	0.000000	T	0.59404	0.2191	L	0.43646	1.37	0.50813	D	0.999892	B;B;B;B;B	0.25048	0.117;0.055;0.099;0.095;0.028	B;B;B;B;B	0.28011	0.085;0.085;0.044;0.039;0.044	T	0.54977	-0.8212	10	0.39692	T	0.17	.	19.4383	0.94807	0.0:1.0:0.0:0.0	.	266;753;728;780;363	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	780;749;363;753;728	ENSP00000259486:R780K;ENSP00000403315:R749K;ENSP00000429476:R363K;ENSP00000428291:R753K;ENSP00000075322:R728K	ENSP00000075322:R728K	R	-	2	0	ENPP2	120646325	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	3.941000	0.56607	2.589000	0.87451	0.655000	0.94253	AGA		0.358	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			18	46	0	0	0	1	0	18	46				
ZNF317	57693	broad.mit.edu	37	19	9271436	9271436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:9271436G>A	ENST00000247956.6	+	7	1420	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ZNF317_ENST00000360385.3_Missense_Mutation_p.R340H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AAAGCCTTCCGCTGGAAGTCC	0.542																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1114-1116)cGc>cAc		zinc finger protein 317							43.0	42.0	42.0					19																	9271436		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271436G>A	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1115G>A	19.37:g.9271436G>A	ENSP00000247956:p.Arg372His					ZNF317_ENST00000360385.3_Missense_Mutation_p.R340H	p.R372H	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1420	+			372					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1115G>A	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794389	0.31777	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.07567	3.18;3.18	2.92	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36555	N	0.002531	T	0.13372	0.0324	L	0.51853	1.615	0.19300	N	0.999971	D;D	0.71674	0.996;0.998	P;P	0.59703	0.647;0.862	T	0.07966	-1.0745	10	0.33141	T	0.24	-12.1136	4.2578	0.10726	0.137:0.2398:0.6232:0.0	.	340;372	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	H	372;340	ENSP00000247956:R372H;ENSP00000353554:R340H	ENSP00000247956:R372H	R	+	2	0	ZNF317	9132436	0.001000	0.12720	0.159000	0.22649	0.700000	0.40528	0.052000	0.14163	0.810000	0.34279	0.491000	0.48974	CGC		0.542	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		16	9	0	0	0	1	0	16	9				
RPS6KA2	6196	broad.mit.edu	37	6	166833431	166833431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:166833431C>T	ENST00000265678.4	-	18	1982	c.1759G>A	c.(1759-1761)Ggc>Agc	p.G587S	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498S|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.G612S|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498S|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595S	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	587	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GCATCATAGCCTTGACGCTTC	0.557																																						ENST00000510118.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1834-1836)Ggc>Agc		ribosomal protein S6 kinase, 90kDa, polypeptide 2							186.0	122.0	144.0					6																	166833431		2203	4300	6503	SO:0001583	missense	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166833431C>T	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1759G>A	6.37:g.166833431C>T	ENSP00000265678:p.Gly587Ser					RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595S|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498S|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498S|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G587S|RPS6KA2_ENST00000509742.1_5'UTR	p.G612S			Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	20	2174	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	587			Protein kinase 2.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	c.1834G>A	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799260	0.70567	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	3.25	3.25	0.37280	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	N	0.11255	0.115	0.80722	D	1	D;D;D	0.89917	0.994;0.993;1.0	D;D;D	0.78314	0.966;0.915;0.991	T	0.64537	-0.6384	10	0.66056	D	0.02	.	13.63	0.62189	0.0:1.0:0.0:0.0	.	612;595;587	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	S	587;612;595;498;498	ENSP00000265678:G587S;ENSP00000422435:G612S;ENSP00000427015:G595S;ENSP00000422484:G498S;ENSP00000386050:G498S	ENSP00000265678:G587S	G	-	1	0	RPS6KA2	166753421	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	6.989000	0.76219	1.670000	0.50864	0.305000	0.20034	GGC		0.557	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		21	13	0	0	0	1	0	21	13				
IDUA	3425	broad.mit.edu	37	4	981720	981720	+	Silent	SNP	G	G	A	rs531374958		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:981720G>A	ENST00000247933.4	+	2	370	c.282G>A	c.(280-282)ctG>ctA	p.L94L	IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	94					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)			ACTGGCTGCTGGAGCTTGTCA	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		15557	0.0		0.0	False		,,,				2504	0.001					ENST00000247933.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(280-282)ctG>ctA		iduronidase, alpha-L-	Laronidase(DB00090)						24.0	19.0	20.0					4																	981720		2180	4280	6460	SO:0001819	synonymous_variant	3425				disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity	g.chr4:981720G>A	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.282G>A	4.37:g.981720G>A						IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron	p.L94L	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		2	370	+			94					B3KWK6	Silent	SNP	ENST00000247933.4	37	c.282G>A	CCDS3343.1																																																																																				0.682	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000201812.1	NM_000203		3	11	0	0	0	1	0	3	11				
CSMD3	114788	broad.mit.edu	37	8	113697867	113697867	+	Silent	SNP	C	C	T	rs144040661		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113697867C>T	ENST00000297405.5	-	15	2494	c.2250G>A	c.(2248-2250)acG>acA	p.T750T	CSMD3_ENST00000352409.3_Silent_p.T750T|CSMD3_ENST00000455883.2_Silent_p.T646T|CSMD3_ENST00000343508.3_Silent_p.T710T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	750	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T750T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGAGATTATCGTCCAGATGC	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			2	Substitution - coding silent(2)	p.T750T(2)	skin(2)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2248-2250)acG>acA		CUB and Sushi multiple domains 3							98.0	105.0	103.0					8																	113697867		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113697867C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2250G>A	8.37:g.113697867C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.T710T|CSMD3_ENST00000455883.2_Silent_p.T646T|CSMD3_ENST00000352409.3_Silent_p.T750T	p.T750T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2494	-			750			CUB 4.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2250G>A	CCDS6315.1																																																																																				0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		39	64	0	0	0	1	0	39	64				
SPTA1	6708	broad.mit.edu	37	1	158627453	158627453	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:158627453C>T	ENST00000368147.4	-	19	2799	c.2619G>A	c.(2617-2619)agG>agA	p.R873R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	873					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTCTTGACCCTAGAGGCCA	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2617-2619)agG>agA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							129.0	122.0	124.0					1																	158627453		1948	4161	6109	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627453C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2619G>A	1.37:g.158627453C>T						SPTA1_ENST00000368147.3_Silent_p.R873R	p.R873R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			19	2799	-	all_hematologic(112;0.0378)		873					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2619G>A	CCDS41423.1																																																																																				0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		20	71	0	0	0	1	0	20	71				
IRX4	50805	broad.mit.edu	37	5	1880924	1880924	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:1880924A>C	ENST00000505790.1	-	4	778	c.322T>G	c.(322-324)Tcg>Gcg	p.S108A	IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000513692.1_Missense_Mutation_p.S108A|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCAGATCCCGAACCATCCTTG	0.637																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(322-324)Tcg>Gcg		iroquois homeobox 4							70.0	77.0	75.0					5																	1880924		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1880924A>C	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.322T>G	5.37:g.1880924A>C	ENSP00000423161:p.Ser108Ala					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000513692.1_Missense_Mutation_p.S108A	p.S108A	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	778	-			108					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.322T>G	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	A	0.208	-1.039352	0.02013	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.02	4.03	-8.07	0.01098	.	0.428141	0.20794	U	0.085571	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40664	-0.9551	10	0.09590	T	0.72	-0.9	0.3503	0.00348	0.3284:0.1435:0.2617:0.2664	.	108	P78413	IRX4_HUMAN	A	108	ENSP00000231357:S108A;ENSP00000423161:S108A;ENSP00000424235:S108A;ENSP00000421772:S108A	ENSP00000231357:S108A	S	-	1	0	IRX4	1933924	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.495000	0.06443	-1.605000	0.01593	-2.030000	0.00424	TCG		0.637	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		22	65	0	0	0	1	0	22	65				
RP1	6101	broad.mit.edu	37	8	55541534	55541534	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:55541534G>A	ENST00000220676.1	+	4	5240	c.5092G>A	c.(5092-5094)Gag>Aag	p.E1698K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1698					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAATTCCAGGAGGAAAGACA	0.403																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5092-5094)Gag>Aag		retinitis pigmentosa 1 (autosomal dominant)							168.0	170.0	169.0					8																	55541534		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541534G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5092G>A	8.37:g.55541534G>A	ENSP00000220676:p.Glu1698Lys						p.E1698K	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5240	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1698						Missense_Mutation	SNP	ENST00000220676.1	37	c.5092G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164359	0.57476	.	.	ENSG00000104237	ENST00000220676	T	0.25250	1.81	5.84	4.05	0.47172	.	0.127041	0.35124	N	0.003432	T	0.28167	0.0695	L	0.59436	1.845	0.09310	N	1	P	0.49635	0.926	P	0.44597	0.454	T	0.15694	-1.0428	10	0.87932	D	0	.	9.4837	0.38917	0.0718:0.2702:0.658:0.0	.	1698	P56715	RP1_HUMAN	K	1698	ENSP00000220676:E1698K	ENSP00000220676:E1698K	E	+	1	0	RP1	55704087	0.858000	0.29795	0.707000	0.30419	0.832000	0.47134	1.755000	0.38379	0.798000	0.33994	0.655000	0.94253	GAG		0.403	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		47	79	0	0	0	1	0	47	79				
GRID1	2894	broad.mit.edu	37	10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	rs377669879		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RP11-93H12.4_ENST00000474115.2_RNA|RN7SKP238_ENST00000516483.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.001					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2128-2130)Cgg>Tgg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257.0	236.0	243.0		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA	p.R710W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2213	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		120	143	0	0	0	1	0	120	143				
RASL10A	10633	broad.mit.edu	37	22	29708407	29708407	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:29708407C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P429L|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000403764.1_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCCCGCCGCCCCTCCGGACCC	0.672																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1285-1287)cCc>cTc		growth arrest-specific 2 like 1							20.0	25.0	23.0					22																	29708407		1935	4127	6062	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708407C>T	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708407C>T						GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR	p.P429L			Q99501	GA2L1_HUMAN			6	1436	+			656					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1286C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303899	0.23736	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.44083	0.93	4.18	3.17	0.36434	.	.	.	.	.	T	0.31136	0.0787	.	.	.	0.80722	D	1	B;B;B	0.17667	0.023;0.023;0.023	B;B;B	0.19666	0.014;0.026;0.026	T	0.20207	-1.0282	8	0.87932	D	0	-3.2086	4.9071	0.13804	0.2099:0.6813:0.0:0.1089	.	429;656;656	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	L	655;429	ENSP00000383995:P429L	ENSP00000332834:P655L	P	+	2	0	GAS2L1	28038407	0.260000	0.24053	0.802000	0.32245	0.225000	0.24961	0.640000	0.24705	0.981000	0.38548	0.491000	0.48974	CCC		0.672	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			12	19	0	0	0	1	0	12	19				
ABHD8	79575	broad.mit.edu	37	19	17403623	17403623	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:17403623G>A	ENST00000247706.3	-	5	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	MRPL34_ENST00000595444.1_Silent_p.R58R|MRPL34_ENST00000600434.1_5'UTR	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	389							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGAGCTTCAGGAATGCCAGGA	0.622																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1165-1167)ttC>ttT		abhydrolase domain containing 8							57.0	46.0	49.0					19																	17403623		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17403623G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1167C>T	19.37:g.17403623G>A						MRPL34_ENST00000595444.1_Silent_p.R58R|MRPL34_ENST00000600434.1_5'UTR	p.F389F	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			5	1406	-			389					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1167C>T	CCDS12355.1																																																																																				0.622	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		10	15	0	0	0	1	0	10	15				
SPARCL1	8404	broad.mit.edu	37	4	88414792	88414792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:88414792C>T	ENST00000282470.6	-	4	1630	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	SPARCL1_ENST00000503414.1_Missense_Mutation_p.R262K|SPARCL1_ENST00000418378.1_Missense_Mutation_p.R387K	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	387					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TACTTTTTCTCTTTGCTCCTC	0.433																																						ENST00000418378.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(1159-1161)aGa>aAa		SPARC-like 1 (hevin)							72.0	76.0	74.0					4																	88414792		2203	4300	6503	SO:0001583	missense	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414792C>T	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1160G>A	4.37:g.88414792C>T	ENSP00000282470:p.Arg387Lys					SPARCL1_ENST00000282470.6_Missense_Mutation_p.R387K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R262K	p.R387K	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1731	-			387					B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	c.1160G>A	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	C	7.294	0.611692	0.14066	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	D;D;D	0.89123	-2.47;-2.47;-2.47	4.32	0.189	0.15119	.	0.467631	0.19660	N	0.108986	T	0.73249	0.3563	L	0.29908	0.895	0.09310	N	1	B;B	0.21452	0.056;0.001	B;B	0.15870	0.014;0.002	T	0.54529	-0.8280	10	0.07482	T	0.82	-6.4939	0.814	0.01098	0.177:0.3965:0.1868:0.2398	.	387;387	Q8N4S1;Q14515	.;SPRL1_HUMAN	K	387;387;262;262	ENSP00000282470:R387K;ENSP00000414856:R387K;ENSP00000422903:R262K	ENSP00000282470:R387K	R	-	2	0	SPARCL1	88633816	0.007000	0.16637	0.001000	0.08648	0.040000	0.13550	-0.148000	0.10219	-0.004000	0.14419	0.655000	0.94253	AGA		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2			14	38	0	0	0	1	0	14	38				
TTYH3	80727	broad.mit.edu	37	7	2686531	2686531	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:2686531G>A	ENST00000258796.7	+	2	373	c.168G>A	c.(166-168)ctG>ctA	p.L56L	TTYH3_ENST00000403167.1_5'Flank|TTYH3_ENST00000407643.1_Silent_p.L56L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	56					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCTCGCCCTGGACCTCCTCT	0.711																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(166-168)ctG>ctA		tweety family member 3							28.0	27.0	27.0					7																	2686531		2194	4294	6488	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2686531G>A		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.168G>A	7.37:g.2686531G>A						TTYH3_ENST00000407643.1_Silent_p.L56L	p.L56L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	2	373	+		Ovarian(82;0.0112)	56					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.168G>A	CCDS34588.1																																																																																				0.711	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		12	12	0	0	0	1	0	12	12				
CSMD3	114788	broad.mit.edu	37	8	113277674	113277674	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:113277674A>G	ENST00000297405.5	-	60	9898	c.9654T>C	c.(9652-9654)aaT>aaC	p.N3218N	CSMD3_ENST00000352409.3_Silent_p.N3148N|CSMD3_ENST00000455883.2_Silent_p.N3049N|CSMD3_ENST00000343508.3_Silent_p.N3178N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3218	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATGTGCCATTAATTGTAC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Deletion - In frame(1)	p.T3214_W3221del(1)	breast(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9652-9654)aaT>aaC		CUB and Sushi multiple domains 3							170.0	150.0	157.0					8																	113277674		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113277674A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9654T>C	8.37:g.113277674A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.N3178N|CSMD3_ENST00000455883.2_Silent_p.N3049N|CSMD3_ENST00000352409.3_Silent_p.N3148N	p.N3218N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			60	9898	-			3218			Sushi 24.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9654T>C	CCDS6315.1																																																																																				0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		37	82	0	0	0	1	0	37	82				
MGAM	8972	broad.mit.edu	37	7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141727464C>T	ENST00000549489.2	+	10	1245	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000475668.2_Missense_Mutation_p.R384C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(1150-1152)Cgt>Tgt		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						63.0	61.0	62.0					7																	141727464		1859	4104	5963	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141727464C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.1150C>T	7.37:g.141727464C>T	ENSP00000447378:p.Arg384Cys					MGAM_ENST00000549489.2_Missense_Mutation_p.R384C	p.R384C			O43451	MGA_HUMAN			10	1204	+	Melanoma(164;0.0272)		384			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.1150C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353232	0.82132	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92911	-3.13	5.55	4.66	0.58398	Glycoside hydrolase, superfamily (1);	0.000000	0.53938	D	0.000045	D	0.97207	0.9087	H	0.96430	3.82	0.52501	D	0.999957	D	0.89917	1.0	D	0.97110	1.0	D	0.98143	1.0437	10	0.87932	D	0	.	13.5189	0.61555	0.1572:0.8428:0.0:0.0	.	384	O43451	MGA_HUMAN	C	384;384;261	ENSP00000447378:R384C	ENSP00000316431:R261C	R	+	1	0	MGAM	141373933	1.000000	0.71417	0.880000	0.34516	0.740000	0.42216	5.535000	0.67173	1.553000	0.49476	0.655000	0.94253	CGT		0.453	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	38	0	0	0	1	0	19	38				
CAPN6	827	broad.mit.edu	37	X	110494250	110494250	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:110494250C>T	ENST00000324068.1	-	8	1220	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	CAPN6_ENST00000541758.1_Silent_p.K96K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	351	Domain III.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATTCCAGCTCCTTTCGGCCAA	0.502																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1051-1053)aaG>aaA		calpain 6							340.0	299.0	313.0					X																	110494250		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494250C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1053G>A	X.37:g.110494250C>T						CAPN6_ENST00000541758.1_Silent_p.K96K	p.K351K	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1220	-			351			Domain III.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1053G>A	CCDS14555.1																																																																																				0.502	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			215	230	0	0	0	1	0	215	230				
CAMTA1	23261	broad.mit.edu	37	1	7724812	7724812	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:7724812C>T	ENST00000303635.7	+	9	2412	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	CAMTA1_ENST00000439411.2_Silent_p.I735I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	735					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGTCCCCATCCTCCCGGGCA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2203-2205)atC>atT		calmodulin binding transcription activator 1							54.0	65.0	61.0					1																	7724812		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724812C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2205C>T	1.37:g.7724812C>T						CAMTA1_ENST00000439411.2_Silent_p.I735I	p.I735I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2412	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	735					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.2205C>T	CCDS30576.1																																																																																				0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		34	43	0	0	0	1	0	34	43				
RP1L1	94137	broad.mit.edu	37	8	10469726	10469726	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:10469726G>A	ENST00000382483.3	-	4	2105	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	628					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGTGGAAGGGGTGGAAGAG	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(1882-1884)Cct>Tct		retinitis pigmentosa 1-like 1							38.0	44.0	42.0					8																	10469726		2036	4183	6219	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10469726G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1882C>T	8.37:g.10469726G>A	ENSP00000371923:p.Pro628Ser						p.P628S	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2105	-			628					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1882C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	8.257	0.810291	0.16537	.	.	ENSG00000183638	ENST00000382483	T	0.04194	3.68	4.45	-0.263	0.12954	.	2.388480	0.02400	U	0.080500	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	P	0.43477	0.808	B	0.39027	0.288	T	0.51196	-0.8736	10	0.38643	T	0.18	1.4514	13.5005	0.61452	0.0:0.6395:0.3605:0.0	.	628	A6NKC6	.	S	628	ENSP00000371923:P628S	ENSP00000371923:P628S	P	-	1	0	RP1L1	10507136	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.569000	0.05902	0.033000	0.15463	0.455000	0.32223	CCT		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			32	40	0	0	0	1	0	32	40				
NRROS	375387	broad.mit.edu	37	3	196387579	196387579	+	Silent	SNP	C	C	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:196387579C>G	ENST00000328557.4	+	3	1268	c.1065C>G	c.(1063-1065)tcC>tcG	p.S355S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	355					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTTCCCTCTCCCACCTGAACC	0.602																																						ENST00000328557.4																			0											c.(1063-1065)tcC>tcG		negative regulator of reactive oxygen species							91.0	93.0	92.0					3																	196387579		2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196387579C>G	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1065C>G	3.37:g.196387579C>G							p.S355S	NM_198565.1	NP_940967.1					3	1268	+									Silent	SNP	ENST00000328557.4	37	c.1065C>G	CCDS3319.1																																																																																				0.602	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		34	70	0	0	0	1	0	34	70				
KMT2D	8085	broad.mit.edu	37	12	49416621	49416621	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:49416621A>T	ENST00000301067.7	-	51	16089	c.16090T>A	c.(16090-16092)Tat>Aat	p.Y5364N		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5364					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGCTCTGATATGCCTTAGAC	0.542																																						ENST00000301067.7																			0											c.(16090-16092)Tat>Aat		lysine (K)-specific methyltransferase 2D							107.0	116.0	113.0					12																	49416621		2113	4235	6348	SO:0001583	missense	8085							g.chr12:49416621A>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16090T>A	12.37:g.49416621A>T	ENSP00000301067:p.Tyr5364Asn						p.Y5364N	NM_003482.3	NP_003473.3					51	16089	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16090T>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244719	0.39697	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	T;D	0.96073	-1.26;-3.9	5.31	5.31	0.75309	.	0.000000	0.32671	N	0.005799	D	0.93657	0.7974	N	0.03608	-0.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95692	0.8741	10	0.87932	D	0	.	14.5512	0.68068	1.0:0.0:0.0:0.0	.	5364	O14686	MLL2_HUMAN	N	5364;45	ENSP00000301067:Y5364N;ENSP00000435714:Y45N	ENSP00000301067:Y5364N	Y	-	1	0	MLL2	47702888	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.339000	0.96797	2.152000	0.67230	0.482000	0.46254	TAT		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			16	18	0	0	0	1	0	16	18				
SPTY2D1	144108	broad.mit.edu	37	11	18637344	18637344	+	Silent	SNP	G	G	A	rs144589695	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:18637344G>A	ENST00000336349.5	-	3	712	c.477C>T	c.(475-477)ccC>ccT	p.P159P	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	159										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CACTTTTAAGGGGGACCTTTG	0.453																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(475-477)ccC>ccT		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)		G		6,4392	11.4+/-27.6	0,6,2193	104.0	105.0	105.0		477	4.7	1.0	11	dbSNP_134	105	0,8586		0,0,4293	no	coding-synonymous	SPTY2D1	NM_194285.2		0,6,6486	AA,AG,GG		0.0,0.1364,0.0462		159/686	18637344	6,12978	2199	4293	6492	SO:0001819	synonymous_variant	144108							g.chr11:18637344G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.477C>T	11.37:g.18637344G>A						SPTY2D1_ENST00000543776.1_5'UTR	p.P159P	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	712	-			159					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Silent	SNP	ENST00000336349.5	37	c.477C>T	CCDS31441.1																																																																																				0.453	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		32	58	0	0	0	1	0	32	58				
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:125509700C>T	ENST00000341446.8	+	3	571	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627																																						ENST00000341446.8																			0				large_intestine(1)|lung(8)|ovary(1)	10						c.(478-480)atC>atT		BRI3 binding protein							132.0	99.0	111.0					12																	125509700		2203	4300	6503	SO:0001819	synonymous_variant	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509700C>T	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.480C>T	12.37:g.125509700C>T							p.I160I	NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	571	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		160						Silent	SNP	ENST00000341446.8	37	c.480C>T	CCDS9262.1																																																																																				0.627	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626		17	88	0	0	0	1	0	17	88				
ARHGAP29	9411	broad.mit.edu	37	1	94654438	94654438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:94654438C>T	ENST00000260526.6	-	15	1818	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	546					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCGCTGCTCCCTCCAGTGCTC	0.368																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1636-1638)Ggg>Agg		Rho GTPase activating protein 29							99.0	100.0	99.0					1																	94654438		2203	4299	6502	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94654438C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1636G>A	1.37:g.94654438C>T	ENSP00000260526:p.Gly546Arg					ARHGAP29_ENST00000482481.1_5'UTR	p.G546R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	15	1818	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	546					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1636G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925208	0.92319	.	.	ENSG00000137962	ENST00000260526	T	0.26518	1.73	5.64	5.64	0.86602	.	0.000000	0.38058	N	0.001840	T	0.47746	0.1462	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.43861	-0.9365	10	0.87932	D	0	-19.6935	18.8715	0.92317	0.0:1.0:0.0:0.0	.	546;546	F8VWZ8;Q52LW3	.;RHG29_HUMAN	R	546	ENSP00000260526:G546R	ENSP00000260526:G546R	G	-	1	0	ARHGAP29	94427026	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.550000	0.73905	2.937000	0.99478	0.650000	0.86243	GGG		0.368	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		19	84	0	0	0	1	0	19	84				
NXF2	56001	broad.mit.edu	37	X	101581424	101581424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:101581424C>T	ENST00000372758.1	+	27	2727	c.1877C>T	c.(1876-1878)tCc>tTc	p.S626F	NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000330252.5_Missense_Mutation_p.S626F|NXF2_ENST00000372757.1_Missense_Mutation_p.S626F|NXF2_ENST00000395088.2_Missense_Mutation_p.S626F			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	626					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						AAGCAAATCTCCTAAAAGGAG	0.498																																						ENST00000395088.2																			0				endometrium(2)|lung(2)	4						c.(1876-1878)tCc>tTc		nuclear RNA export factor 2							122.0	131.0	128.0					X																	101581424		1194	2853	4047	SO:0001583	missense	56001				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding	g.chrX:101581424C>T	AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"""cancer/testis antigen 39"", ""TAP like protein 2"""	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.1877C>T	X.37:g.101581424C>T	ENSP00000361844:p.Ser626Phe					NXF2_ENST00000330252.5_Missense_Mutation_p.S626F|NXF2_ENST00000372758.1_Missense_Mutation_p.S626F|NXF2_ENST00000372757.1_Missense_Mutation_p.S626F|NXF2_ENST00000372763.1_3'UTR	p.S626F			Q9GZY0	NXF2_HUMAN			34	3749	+			626					Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	ENST00000372758.1	37	c.1877C>T	CCDS14497.1	.	.	.	.	.	.	.	.	.	.	.	9.488	1.099997	0.20552	.	.	ENSG00000185554	ENST00000395088;ENST00000330252;ENST00000372758;ENST00000372757	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	2.5	2.5	0.30297	.	.	.	.	.	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	B	0.34147	0.438	B	0.35413	0.202	T	0.15037	-1.0451	9	0.72032	D	0.01	.	7.7806	0.29062	0.0:1.0:0.0:0.0	.	626	Q9GZY0	NXF2_HUMAN	F	626	ENSP00000378523:S626F;ENSP00000331471:S626F;ENSP00000361844:S626F;ENSP00000361843:S626F	ENSP00000331471:S626F	S	+	2	0	NXF2	101468080	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.182000	0.16900	1.541000	0.49316	0.414000	0.27820	TCC		0.498	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057618.1	NM_017809		29	153	0	0	0	1	0	29	153				
FRYL	285527	broad.mit.edu	37	4	48542845	48542845	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:48542845G>A	ENST00000503238.1	-	43	5819	c.5820C>T	c.(5818-5820)aaC>aaT	p.N1940N	FRYL_ENST00000537810.1_Silent_p.N1940N|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.N1940N|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1940					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATCTCAAAGAGTTACTTCTTG	0.418																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5818-5820)aaC>aaT		FRY-like							123.0	114.0	117.0					4																	48542845		1886	4107	5993	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542845G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5820C>T	4.37:g.48542845G>A						FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.N1940N|FRYL_ENST00000503238.1_Silent_p.N1940N|FRYL_ENST00000264319.7_5'UTR	p.N1940N	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			46	6424	-			1940					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.5820C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	0.124	-1.122079	0.01785	.	.	ENSG00000075539	ENST00000514617	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.71273	0.3320	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68131	-0.5490	4	.	.	.	.	14.3908	0.66978	0.075:0.0:0.925:0.0	.	.	.	.	F	810	.	.	L	-	1	0	FRYL	48237602	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	4.272000	0.58908	2.937000	0.99478	0.650000	0.86243	CTC		0.418	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			19	27	0	0	0	1	0	19	27				
ZDHHC2	51201	broad.mit.edu	37	8	17065601	17065601	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:17065601G>A	ENST00000262096.8	+	8	1425	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	244					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|recycling endosome membrane (GO:0055038)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ATCTACATTAGGTGAGTATCC	0.348																																						ENST00000262096.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8						c.e8+1		zinc finger, DHHC-type containing 2							96.0	82.0	86.0					8																	17065601		1847	4102	5949	SO:0001630	splice_region_variant	51201					integral to membrane	acyltransferase activity|zinc ion binding	g.chr8:17065601G>A	AB023584	CCDS47810.1	8p22	2008-05-15			ENSG00000104219	ENSG00000104219		"""Zinc fingers, DHHC-type"""	18469	protein-coding gene	gene with protein product						10918388	Standard	NM_016353		Approved	ZNF372	uc003wxe.3	Q9UIJ5	OTTHUMG00000163860	ENST00000262096.8:c.730+1G>A	8.37:g.17065601G>A							p.E244_splice	NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN		Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)	8	1425	+			244					D3DSP5	Splice_Site	SNP	ENST00000262096.8	37	c.730_splice	CCDS47810.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515742	0.96402	.	.	ENSG00000104219	ENST00000262096	T	0.37411	1.2	5.34	5.34	0.76211	.	.	.	.	.	T	0.77025	0.4070	H	0.98612	4.28	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.85766	0.1352	9	0.87932	D	0	-2.8599	19.939	0.97151	0.0:0.0:1.0:0.0	.	244	Q9UIJ5	ZDHC2_HUMAN	K	244	ENSP00000262096:E244K	ENSP00000262096:E244K	E	+	1	0	ZDHHC2	17109972	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.420000	0.97426	2.890000	0.99128	0.650000	0.86243	GAG		0.348	ZDHHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376014.2	NM_016353	Missense_Mutation	4	2	0	0	0	1	0	4	2				
DRC1	92749	broad.mit.edu	37	2	26667171	26667171	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:26667171C>T	ENST00000288710.2	+	9	1184	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	370					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGTCTCTAACCTCGGACTACA	0.428																																						ENST00000288710.2																			0											c.(1108-1110)acC>acT		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							113.0	100.0	104.0					2																	26667171		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26667171C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1110C>T	2.37:g.26667171C>T						DRC1_ENST00000483675.1_3'UTR	p.T370T	NM_145038.2	NP_659475.2					9	1184	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1110C>T	CCDS1723.1																																																																																				0.428	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		28	28	0	0	0	1	0	28	28				
MED12	9968	broad.mit.edu	37	X	70349587	70349587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:70349587C>T	ENST00000374080.3	+	27	3781	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	MED12_ENST00000374102.1_Missense_Mutation_p.P1250L|MED12_ENST00000333646.6_Missense_Mutation_p.P1250L			Q93074	MED12_HUMAN	mediator complex subunit 12	1250					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAAGAACTTCCAGAGGAGGAG	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3748-3750)cCa>cTa		mediator complex subunit 12							36.0	42.0	40.0					X																	70349587		2137	4224	6361	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349587C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3749C>T	X.37:g.70349587C>T	ENSP00000363193:p.Pro1250Leu		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.P1250L|MED12_ENST00000374080.3_Missense_Mutation_p.P1250L	p.P1250L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			27	3948	+	Renal(35;0.156)		1250					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3749C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	10.48	1.363167	0.24684	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.56941	0.43;0.43;0.43;0.44	5.38	5.38	0.77491	.	0.337402	0.32473	N	0.006058	T	0.30324	0.0761	N	0.08118	0	0.43360	D	0.995436	B;B;B;B	0.15930	0.001;0.015;0.012;0.001	B;B;B;B	0.18263	0.008;0.003;0.021;0.003	T	0.15065	-1.0450	10	0.25106	T	0.35	-8.9276	9.5057	0.39044	0.0:0.8574:0.0:0.1426	.	1250;1097;1250;1250	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1250;1250;1250;1250;1218	ENSP00000333125:P1250L;ENSP00000363215:P1250L;ENSP00000363193:P1250L;ENSP00000414203:P1218L	ENSP00000333125:P1250L	P	+	2	0	MED12	70266312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.778000	0.55371	2.401000	0.81631	0.468000	0.43344	CCA		0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		5	10	0	0	0	1	0	5	10				
MUC5B	727897	broad.mit.edu	37	11	1266767	1266767	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266767C>T	ENST00000529681.1	+	31	8715	c.8657C>T	c.(8656-8658)cCc>cTc	p.P2886L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2889L	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACAGCTACCCCATGCCGGGG	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8665-8667)cCc>cTc		mucin 5B, oligomeric mucus/gel-forming							9.0	12.0	11.0					11																	1266767		1665	3808	5473	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266767C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8657C>T	11.37:g.1266767C>T	ENSP00000436812:p.Pro2886Leu					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2886L	p.P2889L			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8724	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2886	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8666C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.808	0.715008	0.15306	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.26810	1.71;1.71	4.04	4.04	0.47022	.	.	.	.	.	T	0.63954	0.2555	H	0.95850	3.73	0.09310	N	1	D;D	0.76494	0.996;0.999	D;D	0.72982	0.967;0.979	T	0.63148	-0.6702	9	0.87932	D	0	.	14.741	0.69455	0.0:1.0:0.0:0.0	.	3469;2889	A7Y9J9;E9PBJ0	.;.	L	2886;2889;2858;2846	ENSP00000436812:P2886L;ENSP00000415793:P2889L	ENSP00000343037:P2858L	P	+	2	0	MUC5B	1223343	0.004000	0.15560	0.036000	0.18154	0.003000	0.03518	1.265000	0.33027	1.978000	0.57642	0.430000	0.28490	CCC		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	46	0	0	0	1	0	22	46				
MYEF2	50804	broad.mit.edu	37	15	48470331	48470331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:48470331G>A	ENST00000324324.7	-	1	383	c.104C>T	c.(103-105)cCc>cTc	p.P35L	MYEF2_ENST00000267836.6_Missense_Mutation_p.P35L	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	35					myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CGCCTCCGCGGGGTGCGGCTC	0.716																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(103-105)cCc>cTc		myelin expression factor 2							6.0	6.0	6.0					15																	48470331		2126	4185	6311	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48470331G>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.104C>T	15.37:g.48470331G>A	ENSP00000316950:p.Pro35Leu					MYEF2_ENST00000267836.6_Missense_Mutation_p.P35L	p.P35L	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	1	383	-		all_lung(180;0.00217)	35					A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.104C>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352769	0.61293	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.21361	2.58;2.01	4.17	3.17	0.36434	.	0.430964	0.22798	N	0.055508	T	0.16854	0.0405	L	0.36672	1.1	0.45295	D	0.998292	P;P	0.40731	0.728;0.608	B;B	0.40477	0.33;0.177	T	0.02275	-1.1184	10	0.72032	D	0.01	-2.2919	8.2144	0.31503	0.0:0.0:0.7424:0.2576	.	35;35	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	L	35	ENSP00000316950:P35L;ENSP00000267836:P35L	ENSP00000267836:P35L	P	-	2	0	MYEF2	46257623	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.071000	0.41500	2.136000	0.66102	0.655000	0.94253	CCC		0.716	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		3	4	0	0	0	1	0	3	4				
DRAXIN	374946	broad.mit.edu	37	1	11775176	11775176	+	Splice_Site	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11775176G>A	ENST00000294485.5	+	6	983	c.848G>A	c.(847-849)gGg>gAg	p.G283E		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GTGTTGGCAGGGACTTGCTGC	0.602																																						ENST00000294485.5																			0											c.e6-1		dorsal inhibitory axon guidance protein							130.0	104.0	113.0					1																	11775176		2203	4300	6503	SO:0001630	splice_region_variant	374946							g.chr1:11775176G>A	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.848-1G>A	1.37:g.11775176G>A							p.G283_splice	NM_198545.3	NP_940947.3					6	983	+									Splice_Site	SNP	ENST00000294485.5	37	c.847_splice	CCDS135.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469914	0.84533	.	.	ENSG00000162490	ENST00000294485	T	0.73681	-0.77	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86894	0.2050	9	.	.	.	.	17.1232	0.86707	0.0:0.0:1.0:0.0	.	283	Q8NBI3	DRAXI_HUMAN	E	283	ENSP00000294485:G283E	.	G	+	2	0	C1orf187	11697763	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	9.118000	0.94355	2.273000	0.75805	0.561000	0.74099	GGG		0.602	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545	Missense_Mutation	26	31	0	0	0	1	0	26	31				
CBX6	23466	broad.mit.edu	37	22	39263055	39263055	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:39263055G>A	ENST00000407418.3	-	5	521	c.398C>T	c.(397-399)cCc>cTc	p.P133L	CBX6_ENST00000216083.6_Missense_Mutation_p.P115L			O95503	CBX6_HUMAN	chromobox homolog 6	133					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GCGGGGCAGGGGACGGCGGGA	0.711																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(397-399)cCc>cTc		chromobox homolog 6							9.0	9.0	9.0					22																	39263055		2021	4025	6046	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39263055G>A		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.398C>T	22.37:g.39263055G>A	ENSP00000384490:p.Pro133Leu					CBX6_ENST00000216083.6_Missense_Mutation_p.P115L	p.P133L			O95503	CBX6_HUMAN			5	521	-	Melanoma(58;0.04)		133					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.398C>T	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821021	0.90873	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.13	4.13	0.48395	.	1.598150	0.03733	N	0.253714	T	0.72463	0.3463	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61277	-0.7095	9	0.87932	D	0	.	16.5945	0.84792	0.0:0.0:1.0:0.0	.	133	O95503	CBX6_HUMAN	L	133;115	.	ENSP00000216083:P115L	P	-	2	0	CBX6	37593001	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.608000	0.90895	2.138000	0.66242	0.407000	0.27541	CCC		0.711	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		9	10	0	0	0	1	0	9	10				
ITGA2B	3674	broad.mit.edu	37	17	42458336	42458336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:42458336G>A	ENST00000262407.5	-	13	1335	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F	ITGA2B_ENST00000377068.3_Missense_Mutation_p.S120F|ITGA2B_ENST00000353281.4_Missense_Mutation_p.S435F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	435					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGGACCTGGGAGGGACGTGA	0.642																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1303-1305)tCc>tTc		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						85.0	78.0	81.0					17																	42458336		2203	4300	6503	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458336G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1304C>T	17.37:g.42458336G>A	ENSP00000262407:p.Ser435Phe					ITGA2B_ENST00000377068.3_Missense_Mutation_p.S120F|ITGA2B_ENST00000353281.4_Missense_Mutation_p.S435F	p.S435F	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1335	-		Prostate(33;0.0181)	435					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1304C>T	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133236	0.77662	.	.	ENSG00000005961	ENST00000262407;ENST00000353281;ENST00000377068	T;T;T	0.73897	-0.79;-0.79;-0.79	5.49	4.51	0.55191	.	0.000000	0.34879	N	0.003604	D	0.88658	0.6496	H	0.94734	3.575	0.47153	D	0.999333	D	0.89917	1.0	D	0.77557	0.99	D	0.90574	0.4524	10	0.87932	D	0	.	10.7295	0.46087	0.0:0.143:0.709:0.148	.	435	P08514	ITA2B_HUMAN	F	435;435;120	ENSP00000262407:S435F;ENSP00000340536:S435F;ENSP00000366268:S120F	ENSP00000262407:S435F	S	-	2	0	ITGA2B	39813862	0.003000	0.15002	0.988000	0.46212	0.930000	0.56654	0.760000	0.26475	1.522000	0.49001	0.655000	0.94253	TCC		0.642	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	56	0	0	0	1	0	21	56				
MORN4	118812	broad.mit.edu	37	10	99376133	99376133	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:99376133G>A	ENST00000307450.6	-	5	491	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.P168S|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	110										large_intestine(1)|lung(1)|stomach(2)	4						TCATTGCGGGGGATTCCATGA	0.498																																						ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(502-504)Ccc>Tcc		MORN repeat containing 4							52.0	50.0	51.0					10																	99376133		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376133G>A	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.328C>T	10.37:g.99376133G>A	ENSP00000307636:p.Pro110Ser					PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.P110S|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron	p.P168S			Q8NDC4	MORN4_HUMAN			4	501	-			110					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.502C>T	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354778	0.82243	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.41758	0.99;0.99	5.03	5.03	0.67393	.	0.230772	0.45606	D	0.000342	T	0.63189	0.2490	M	0.69823	2.125	0.58432	D	0.999999	D;P	0.76494	0.999;0.888	D;B	0.71656	0.974;0.243	T	0.58880	-0.7558	10	0.28530	T	0.3	-8.5111	18.5536	0.91075	0.0:0.0:1.0:0.0	.	168;110	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	S	110;110;168	ENSP00000307636:P110S;ENSP00000335498:P168S	ENSP00000307636:P110S	P	-	1	0	MORN4	99366123	1.000000	0.71417	0.679000	0.29978	0.841000	0.47740	7.689000	0.84165	2.622000	0.88805	0.561000	0.74099	CCC		0.498	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		15	37	0	0	0	1	0	15	37				
COL11A1	1301	broad.mit.edu	37	1	103483419	103483419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:103483419C>T	ENST00000370096.3	-	11	1682	c.1370G>A	c.(1369-1371)gGt>gAt	p.G457D	COL11A1_ENST00000512756.1_Missense_Mutation_p.G341D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G418D|COL11A1_ENST00000358392.2_Missense_Mutation_p.G469D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	457	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGTAGACCTGGAGGACC	0.403																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1405-1407)gGt>gAt		collagen, type XI, alpha 1							99.0	102.0	101.0					1																	103483419		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483419C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1370G>A	1.37:g.103483419C>T	ENSP00000359114:p.Gly457Asp					COL11A1_ENST00000512756.1_Missense_Mutation_p.G341D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G457D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G418D	p.G469D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1723	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	457			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1406G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741304	0.69304	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.99694	0.9884	H	0.96691	3.865	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;0.996;0.998;0.998	D	0.97603	1.0124	10	0.66056	D	0.02	.	18.8525	0.92238	0.0:1.0:0.0:0.0	.	341;418;469;457	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	D	457;469;418;341;469	ENSP00000359114:G457D;ENSP00000351163:G469D;ENSP00000302551:G418D;ENSP00000426533:G341D;ENSP00000408640:G469D	ENSP00000302551:G418D	G	-	2	0	COL11A1	103256007	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.573000	0.74009	2.614000	0.88457	0.650000	0.86243	GGT		0.403	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		19	71	0	0	0	1	0	19	71				
RTN4RL1	146760	broad.mit.edu	37	17	1840275	1840275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:1840275G>A	ENST00000331238.6	-	2	1320	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GACACACAGGGGACAGCGGAG	0.682																																					GBM(68;949 1139 14865 32798 38342)	ENST00000331238.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						c.(841-843)Ccc>Tcc		reticulon 4 receptor-like 1							12.0	14.0	13.0					17																	1840275		2051	4199	6250	SO:0001583	missense	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1840275G>A	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.841C>T	17.37:g.1840275G>A	ENSP00000330631:p.Pro281Ser						p.P281S	NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN			2	859	-			281			LRRCT.			Missense_Mutation	SNP	ENST00000331238.6	37	c.841C>T	CCDS45569.1	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473043	0.12461	.	.	ENSG00000185924	ENST00000331238	T	0.02177	4.41	4.94	3.95	0.45737	Cysteine-rich flanking region, C-terminal (1);	0.196962	0.25247	N	0.032056	T	0.02119	0.0066	L	0.39898	1.24	0.28566	N	0.910858	B	0.23990	0.095	B	0.24394	0.053	T	0.38866	-0.9641	10	0.09843	T	0.71	.	8.3916	0.32531	0.0:0.1313:0.441:0.4277	.	281	Q86UN2	R4RL1_HUMAN	S	281	ENSP00000330631:P281S	ENSP00000330631:P281S	P	-	1	0	RTN4RL1	1787025	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	4.463000	0.60128	1.278000	0.44430	0.644000	0.83932	CCC		0.682	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		3	10	0	0	0	1	0	3	10				
PTPN18	26469	broad.mit.edu	37	2	131117186	131117186	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:131117186C>T	ENST00000175756.5	+	5	482	c.381C>T	c.(379-381)atC>atT	p.I127I	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	127	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCTAGGTGATCCTGATGGCCT	0.587																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(379-381)atC>atT		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							117.0	94.0	102.0					2																	131117186		2203	4300	6503	SO:0001819	synonymous_variant	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131117186C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.381C>T	2.37:g.131117186C>T						PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	p.I127I	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			5	482	+	Colorectal(110;0.1)		127			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	c.381C>T	CCDS2161.1																																																																																				0.587	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			8	30	0	0	0	1	0	8	30				
LLGL2	3993	broad.mit.edu	37	17	73565309	73565309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:73565309C>T	ENST00000392550.3	+	14	1601	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	LLGL2_ENST00000577200.1_Missense_Mutation_p.S495F|LLGL2_ENST00000167462.5_Missense_Mutation_p.S495F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	495					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGGTGGGCTCCTTTGACCCC	0.657																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1483-1485)tCc>tTc		lethal giant larvae homolog 2 (Drosophila)							54.0	59.0	57.0					17																	73565309		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73565309C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1484C>T	17.37:g.73565309C>T	ENSP00000376333:p.Ser495Phe					LLGL2_ENST00000167462.5_Missense_Mutation_p.S495F|LLGL2_ENST00000577200.1_Missense_Mutation_p.S495F	p.S495F	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		14	1601	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		495					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1484C>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753467	0.31046	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.18016	2.24;2.24	5.29	4.33	0.51752	WD40 repeat-like-containing domain (1);	0.144538	0.64402	N	0.000004	T	0.31358	0.0794	L	0.58101	1.795	0.42251	D	0.991975	B;P;D;P;P	0.54601	0.171;0.944;0.967;0.942;0.904	B;P;P;P;P	0.56751	0.137;0.642;0.805;0.6;0.514	T	0.03008	-1.1083	10	0.39692	T	0.17	-3.8589	13.9064	0.63839	0.0:0.9264:0.0:0.0736	.	122;484;484;495;495	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	F	495;495;484	ENSP00000167462:S495F;ENSP00000376333:S495F	ENSP00000167462:S495F	S	+	2	0	LLGL2	71076904	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.276000	0.65580	1.234000	0.43709	0.555000	0.69702	TCC		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		25	53	0	0	0	1	0	25	53				
SPINK5	11005	broad.mit.edu	37	5	147513428	147513428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:147513428C>T	ENST00000256084.7	+	32	3206	c.3164C>T	c.(3163-3165)aCc>aTc	p.T1055I	SPINK5_ENST00000359874.3_Missense_Mutation_p.T1085I	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1055					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAACCACCGCAGCCAGC	0.512																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(3253-3255)aCc>aTc		serine peptidase inhibitor, Kazal type 5							72.0	87.0	82.0					5																	147513428		2131	4244	6375	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147513428C>T	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3164C>T	5.37:g.147513428C>T	ENSP00000256084:p.Thr1055Ile					SPINK5_ENST00000256084.7_Missense_Mutation_p.T1055I	p.T1085I	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	3327	+			1055					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.3254C>T	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382211	0.24944	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.42131	0.99;0.98	4.93	0.815	0.18763	.	1.337170	0.05267	N	0.516902	T	0.35189	0.0923	L	0.57536	1.79	0.09310	N	1	B;B	0.31077	0.307;0.172	B;B	0.26416	0.069;0.015	T	0.17930	-1.0353	10	0.29301	T	0.29	-2.4845	3.8562	0.08976	0.3301:0.4787:0.0:0.1912	.	1085;1055	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	I	1085;1055	ENSP00000352936:T1085I;ENSP00000256084:T1055I	ENSP00000256084:T1055I	T	+	2	0	SPINK5	147493621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.080000	0.11339	0.011000	0.14865	0.650000	0.86243	ACC		0.512	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		21	38	0	0	0	1	0	21	38				
LDB3	11155	broad.mit.edu	37	10	88441437	88441437	+	Missense_Mutation	SNP	C	C	T	rs45487699	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:88441437C>T	ENST00000361373.4	+	4	587	c.566C>T	c.(565-567)tCg>tTg	p.S189L	LDB3_ENST00000372056.4_Missense_Mutation_p.S189L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.S189L|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.S189L|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.S189L	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCGGGCTCGAGCCAGCCG	0.672													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16024	0.0		0.002	False		,,,				2504	0.0					ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25	GRCh37	CM033943	ldb3z4	M	rs45487699	c.(565-567)tCg>tTg		LIM domain binding 3		C	,,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	35.0	42.0	40.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,566,566,566,566	3.8	0.0	10	dbSNP_127	40	2,8598	2.2+/-6.3	0,2,4298	yes	intron,intron,missense,missense,missense,missense	LDB3	NM_001080114.1,NM_001080116.1,NM_007078.2,NM_001171611.1,NM_001171610.1,NM_001080115.1	,,145,145,145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,benign,benign,benign,benign	,,189/728,189/399,189/733,189/331	88441437	2,13004	2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88441437C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.566C>T	10.37:g.88441437C>T	ENSP00000355296:p.Ser189Leu					LDB3_ENST00000263066.6_Intron|LDB3_ENST00000361373.4_Missense_Mutation_p.S189L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.S189L|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.S189L|LDB3_ENST00000372056.4_Missense_Mutation_p.S189L	p.S189L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			5	711	+			189		S -> L (in CMD1C; dbSNP:rs45487699).				Missense_Mutation	SNP	ENST00000361373.4	37	c.566C>T	CCDS7377.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	C	10.43	1.346972	0.24426	0.0	2.33E-4	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000372056;ENST00000310944;ENST00000361373;ENST00000542786	T;T;T;T;T	0.52754	0.85;1.0;1.21;0.65;1.13	5.67	3.82	0.43975	ZASP (1);	1.126740	0.07118	N	0.843398	T	0.40670	0.1126	L	0.60455	1.87	0.09310	N	1	B;B;P;B;P	0.44006	0.002;0.252;0.685;0.002;0.824	B;B;B;B;B	0.35655	0.001;0.108;0.051;0.001;0.207	T	0.29366	-1.0014	10	0.37606	T	0.19	.	5.4859	0.16749	0.1613:0.6754:0.0:0.1632	rs45487699	189;189;189;189;189	B4E3K3;F5H0C2;O75112-4;O75112;O75112-5	.;.;.;LDB3_HUMAN;.	L	189	ENSP00000401437:S189L;ENSP00000361126:S189L;ENSP00000311913:S189L;ENSP00000355296:S189L;ENSP00000438866:S189L	ENSP00000311913:S189L	S	+	2	0	LDB3	88431417	0.998000	0.40836	0.002000	0.10522	0.096000	0.18686	3.018000	0.49625	0.741000	0.32674	0.655000	0.94253	TCG		0.672	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			29	41	0	0	0	1	0	29	41				
GFPT2	9945	broad.mit.edu	37	5	179731940	179731940	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:179731940C>T	ENST00000253778.8	-	17	1844		c.e17-1			NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTTAATTTTCTGGAAACAGG	0.547																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.e17-1		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						91.0	94.0	93.0					5																	179731940		2032	4205	6237	SO:0001630	splice_region_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179731940C>T	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1675-1G>A	5.37:g.179731940C>T								NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	1844	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)						Q53XM2|Q9BWS4	Splice_Site	SNP	ENST00000253778.8	37		CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874245	0.91664	.	.	ENSG00000131459	ENST00000253778	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GFPT2	179664546	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.711000	0.84669	2.768000	0.95171	0.561000	0.74099	.		0.547	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110	Intron	42	72	0	0	0	1	0	42	72				
KIF13A	63971	broad.mit.edu	37	6	17781111	17781111	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:17781111G>A	ENST00000259711.6	-	31	3801	c.3696C>T	c.(3694-3696)tcC>tcT	p.S1232S	KIF13A_ENST00000378814.5_Silent_p.S1219S|KIF13A_ENST00000378816.5_Silent_p.S1232S|KIF13A_ENST00000378843.2_Silent_p.S1219S|KIF13A_ENST00000378826.2_Silent_p.S1232S	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1232					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGCACCGAGGAATCCCAAG	0.448																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3655-3657)tcC>tcT		kinesin family member 13A							101.0	99.0	99.0					6																	17781111		1934	4140	6074	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17781111G>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3696C>T	6.37:g.17781111G>A						KIF13A_ENST00000378816.5_Silent_p.S1232S|KIF13A_ENST00000378826.2_Silent_p.S1232S|KIF13A_ENST00000378843.2_Silent_p.S1219S|KIF13A_ENST00000259711.6_Silent_p.S1232S	p.S1219S	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		30	3656	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1232					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.3657C>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139256	0.21205	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.58	1.48	0.22813	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14476	-1.0471	4	.	.	.	.	4.167	0.10312	0.3523:0.3242:0.3235:0.0	.	.	.	.	L	626	.	.	P	-	2	0	KIF13A	17889090	0.998000	0.40836	0.997000	0.53966	0.949000	0.60115	0.432000	0.21461	0.375000	0.24679	0.561000	0.74099	CCT		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			24	15	0	0	0	1	0	24	15				
ROS1	6098	broad.mit.edu	37	6	117718196	117718196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:117718196G>A	ENST00000368508.3	-	7	859	c.661C>T	c.(661-663)Cca>Tca	p.P221S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P230S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	221	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTCCACCTGGGAATTGAGGT	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(661-663)Cca>Tca		c-ros oncogene 1 , receptor tyrosine kinase							114.0	115.0	115.0					6																	117718196		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718196G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.661C>T	6.37:g.117718196G>A	ENSP00000357494:p.Pro221Ser					ROS1_ENST00000368507.3_Missense_Mutation_p.P230S|GOPC_ENST00000467125.1_Intron	p.P221S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	859	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	221			Fibronectin type-III 2.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.661C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372919	0.82573	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.56776	0.44;0.44	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000005	T	0.62816	0.2459	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64123	-0.6481	10	0.72032	D	0.01	.	18.8015	0.92018	0.0:0.0:1.0:0.0	.	221	P08922	ROS1_HUMAN	S	221;230	ENSP00000357494:P221S;ENSP00000357493:P230S	ENSP00000357493:P230S	P	-	1	0	ROS1	117824889	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.152000	0.77419	2.760000	0.94817	0.650000	0.86243	CCA		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			61	36	0	0	0	1	0	61	36				
DDX46	9879	broad.mit.edu	37	5	134153240	134153240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:134153240C>T	ENST00000354283.4	+	20	2800	c.2665C>T	c.(2665-2667)Ccc>Tcc	p.P889S	DDX46_ENST00000452510.2_Missense_Mutation_p.P890S			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	889					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATTCTGGCTCCCACTGTTTC	0.438																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2668-2670)Ccc>Tcc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							81.0	77.0	78.0					5																	134153240		2203	4300	6503	SO:0001583	missense	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134153240C>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2665C>T	5.37:g.134153240C>T	ENSP00000346236:p.Pro889Ser					DDX46_ENST00000354283.4_Missense_Mutation_p.P889S	p.P890S	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		20	2826	+			889					O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	ENST00000354283.4	37	c.2668C>T	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411599	0.62399	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.26067	1.76;1.76	5.8	5.8	0.92144	.	0.048728	0.85682	D	0.000000	T	0.32315	0.0825	M	0.62723	1.935	0.80722	D	1	B	0.23490	0.086	B	0.24394	0.053	T	0.03969	-1.0988	10	0.33141	T	0.24	-7.314	20.0706	0.97721	0.0:1.0:0.0:0.0	.	889	Q7L014	DDX46_HUMAN	S	890;889	ENSP00000416534:P890S;ENSP00000346236:P889S	ENSP00000346236:P889S	P	+	1	0	DDX46	134181139	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.764000	0.85297	2.744000	0.94065	0.655000	0.94253	CCC		0.438	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		12	26	0	0	0	1	0	12	26				
MS4A5	64232	broad.mit.edu	37	11	60201298	60201298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:60201298C>T	ENST00000300190.2	+	4	486	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	134						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TGGAATCATTCTCCTCACATT	0.368																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(400-402)Ctc>Ttc		membrane-spanning 4-domains, subfamily A, member 5							188.0	179.0	182.0					11																	60201298		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60201298C>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.400C>T	11.37:g.60201298C>T	ENSP00000300190:p.Leu134Phe					MS4A5_ENST00000534071.1_3'UTR	p.L134F	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			4	486	+			134					Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.400C>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826994	0.32329	.	.	ENSG00000166930	ENST00000300190	T	0.03301	3.98	4.08	4.08	0.47627	.	0.510764	0.18377	N	0.143072	T	0.12347	0.0300	L	0.56340	1.77	0.35768	D	0.820657	D	0.89917	1.0	D	0.91635	0.999	T	0.14420	-1.0473	10	0.30078	T	0.28	-15.0529	11.9845	0.53140	0.0:1.0:0.0:0.0	.	134	Q9H3V2	MS4A5_HUMAN	F	134	ENSP00000300190:L134F	ENSP00000300190:L134F	L	+	1	0	MS4A5	59957874	0.975000	0.34042	0.999000	0.59377	0.232000	0.25224	1.750000	0.38329	2.293000	0.77203	0.655000	0.94253	CTC		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			42	63	0	0	0	1	0	42	63				
NPR2	4882	broad.mit.edu	37	9	35800799	35800799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:35800799C>T	ENST00000342694.2	+	6	1567	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	438					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGACAATCCCCCCTGTGCCTT	0.582																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1312-1314)Ccc>Tcc		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						117.0	98.0	105.0					9																	35800799		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35800799C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1312C>T	9.37:g.35800799C>T	ENSP00000341083:p.Pro438Ser						p.P438S	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		6	1567	+	all_epithelial(49;0.161)		438					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1312C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313006	0.23908	.	.	ENSG00000159899	ENST00000342694	T	0.39056	1.1	4.71	4.71	0.59529	.	0.000000	0.44902	D	0.000417	T	0.41050	0.1142	M	0.72479	2.2	0.58432	D	0.999994	B;B	0.29805	0.257;0.026	B;B	0.29524	0.103;0.029	T	0.37033	-0.9723	10	0.07030	T	0.85	.	16.8305	0.85943	0.0:1.0:0.0:0.0	.	438;438	P20594-2;P20594	.;ANPRB_HUMAN	S	438	ENSP00000341083:P438S	ENSP00000341083:P438S	P	+	1	0	NPR2	35790799	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.880000	0.48530	2.448000	0.82819	0.563000	0.77884	CCC		0.582	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			29	17	0	0	0	1	0	29	17				
TRAF3	7187	broad.mit.edu	37	14	103369698	103369698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:103369698C>T	ENST00000560371.1	+	10	1284	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	TRAF3_ENST00000539721.1_Missense_Mutation_p.S273F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S331F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S356F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S331F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	356					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGCGTGGAGTCCCTCCAGAAC	0.632																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1066-1068)tCc>tTc		TNF receptor-associated factor 3							86.0	83.0	84.0					14																	103369698		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103369698C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1067C>T	14.37:g.103369698C>T	ENSP00000454207:p.Ser356Phe					TRAF3_ENST00000539721.1_Missense_Mutation_p.S273F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S356F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S331F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S331F	p.S356F	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	10	1284	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	356					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1067C>T	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852394	0.71719	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.78595	-1.19;-1.19;1.49	4.53	4.53	0.55603	.	0.297662	0.36740	N	0.002423	T	0.78898	0.4356	N	0.24115	0.695	0.58432	D	0.999998	P;B;P	0.44281	0.831;0.045;0.604	P;B;B	0.55999	0.789;0.017;0.396	T	0.82053	-0.0648	10	0.62326	D	0.03	-9.8395	17.6388	0.88129	0.0:1.0:0.0:0.0	.	273;331;356	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	F	356;331;356;273	ENSP00000376500:S356F;ENSP00000328003:S331F;ENSP00000445998:S273F	ENSP00000328003:S331F	S	+	2	0	TRAF3	102439451	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	2.787000	0.47798	2.242000	0.73789	0.655000	0.94253	TCC		0.632	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		30	53	0	0	0	1	0	30	53				
IFT80	57560	broad.mit.edu	37	3	159995110	159995110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:159995110G>A	ENST00000326448.7	-	18	2515	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F	IFT80_ENST00000496589.1_Missense_Mutation_p.L558F|IFT80_ENST00000483465.1_Missense_Mutation_p.L558F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L866F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	695					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAGTTGTAGAGATTAATATTG	0.363																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2083-2085)Ctc>Ttc		intraflagellar transport 80 homolog (Chlamydomonas)							107.0	109.0	108.0					3																	159995110		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159995110G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.2083C>T	3.37:g.159995110G>A	ENSP00000312778:p.Leu695Phe					IFT80_ENST00000483465.1_Missense_Mutation_p.L558F|IFT80_ENST00000496589.1_Missense_Mutation_p.L558F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L866F	p.L695F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		18	2515	-			695					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.2083C>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152511	0.78001	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.89343	-2.5;-2.5;-2.5	5.47	5.47	0.80525	.	0.000000	0.52532	U	0.000069	D	0.92958	0.7759	M	0.85859	2.78	0.58432	D	0.999999	D	0.57899	0.981	P	0.55161	0.77	D	0.93638	0.6962	10	0.72032	D	0.01	-18.5552	12.6395	0.56702	0.0755:0.0:0.9245:0.0	.	695	Q9P2H3	IFT80_HUMAN	F	695;558;558	ENSP00000312778:L695F;ENSP00000418196:L558F;ENSP00000420646:L558F	ENSP00000312778:L695F	L	-	1	0	IFT80	161477804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.428000	0.80296	2.544000	0.85801	0.655000	0.94253	CTC		0.363	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		39	55	0	0	0	1	0	39	55				
ZNF354A	6940	broad.mit.edu	37	5	178140027	178140027	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:178140027G>A	ENST00000335815.2	-	5	1049	c.852C>T	c.(850-852)tcC>tcT	p.S284S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTTTATAAAGGGATGTACTGA	0.378																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(850-852)tcC>tcT		zinc finger protein 354A							78.0	81.0	80.0					5																	178140027		2203	4300	6503	SO:0001819	synonymous_variant	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178140027G>A	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.852C>T	5.37:g.178140027G>A							p.S284S	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1049	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	284					Q9UNJ8	Silent	SNP	ENST00000335815.2	37	c.852C>T	CCDS4438.1																																																																																				0.378	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		32	53	0	0	0	1	0	32	53				
WBP5	51186	broad.mit.edu	37	X	102612735	102612735	+	Silent	SNP	A	A	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:102612735A>C	ENST00000372661.3	+	3	434	c.123A>C	c.(121-123)gcA>gcC	p.A41A	WBP5_ENST00000372656.3_Silent_p.A41A	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WBP5_HUMAN	WW domain binding protein 5	41	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGGCCAAAGCAAAAGGAACTT	0.418																																						ENST00000372661.3																			0				breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						c.(121-123)gcA>gcC		WW domain binding protein 5							124.0	104.0	111.0					X																	102612735		2203	4300	6503	SO:0001819	synonymous_variant	51186							g.chrX:102612735A>C	BC023544	CCDS14507.1	Xq22.2	2014-03-21			ENSG00000185222	ENSG00000185222			30084	protein-coding gene	gene with protein product	"""pp21 homolog"""					16221301	Standard	NM_001006612		Approved	DKFZp313K1940, TCEAL9, WEX6	uc004ekg.3	Q9UHQ7	OTTHUMG00000022097	ENST00000372661.3:c.123A>C	X.37:g.102612735A>C						WBP5_ENST00000372656.3_Silent_p.A41A	p.A41A	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN			3	434	+			41			Glu-rich.		B2R5H6	Silent	SNP	ENST00000372661.3	37	c.123A>C	CCDS14507.1																																																																																				0.418	WBP5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057706.1	NM_016303		33	44	0	0	0	1	0	33	44				
OR9A4	130075	broad.mit.edu	37	7	141618868	141618868	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:141618868C>T	ENST00000548136.1	+	1	252	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	65						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)					CCTCGGCCACCTCTCTGCCCT	0.483																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(193-195)Ctc>Ttc		olfactory receptor, family 9, subfamily A, member 4							137.0	143.0	141.0					7																	141618868		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618868C>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.193C>T	7.37:g.141618868C>T	ENSP00000448789:p.Leu65Phe					MGAM_ENST00000497554.1_Intron	p.L65F	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	252	+	Melanoma(164;0.0171)		65					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.193C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	0.510	-0.866972	0.02590	.	.	ENSG00000258083	ENST00000548136	T	0.00483	7.09	3.8	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.75150	2.29	0.38009	D	0.934476	P	0.50066	0.931	P	0.45037	0.467	T	0.64922	-0.6293	9	0.02654	T	1	-24.1427	10.4456	0.44493	0.1947:0.8053:0.0:0.0	.	65	Q8NGU2	OR9A4_HUMAN	F	65	ENSP00000448789:L65F	ENSP00000386148:L65F	L	+	1	0	OR9A4	141265337	0.633000	0.27181	0.563000	0.28383	0.034000	0.12701	0.450000	0.21762	2.121000	0.65114	0.655000	0.94253	CTC		0.483	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		50	123	0	0	0	1	0	50	123				
PARK7	11315	broad.mit.edu	37	1	8022903	8022903	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:8022903G>A	ENST00000493678.1	+	2	125	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	PARK7_ENST00000377491.1_Missense_Mutation_p.V20I|PARK7_ENST00000377488.1_Missense_Mutation_p.V20I|PARK7_ENST00000338639.5_Missense_Mutation_p.V20I|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Missense_Mutation_p.V20I			Q99497	PARK7_HUMAN	parkinson protein 7	20					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		AATGGAGACGGTCATCCCTGT	0.363																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(58-60)Gtc>Atc		parkinson protein 7							91.0	86.0	88.0					1																	8022903		2203	4300	6503	SO:0001583	missense	11315				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8022903G>A	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.58G>A	1.37:g.8022903G>A	ENSP00000418770:p.Val20Ile					PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.V20I|PARK7_ENST00000377491.1_Missense_Mutation_p.V20I|PARK7_ENST00000377493.5_Missense_Mutation_p.V20I|PARK7_ENST00000338639.5_Missense_Mutation_p.V20I	p.V20I			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	2	125	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	20					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.58G>A	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602880	0.46423	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.64659	0.2618	N	0.21373	0.66	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.60260	-0.7298	10	0.30854	T	0.27	.	13.3706	0.60711	0.0:0.0:1.0:0.0	.	20	Q99497	PARK7_HUMAN	I	20	ENSP00000340278:V20I;ENSP00000418770:V20I;ENSP00000366711:V20I;ENSP00000366708:V20I	ENSP00000340278:V20I	V	+	1	0	PARK7	7945490	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	8.319000	0.89992	2.292000	0.77174	0.585000	0.79938	GTC		0.363	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		45	14	0	0	0	1	0	45	14				
CNDP1	84735	broad.mit.edu	37	18	72250826	72250826	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:72250826G>A	ENST00000358821.3	+	11	1567	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	CNDP1_ENST00000582365.1_Missense_Mutation_p.D404N	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	447						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TATGATCCGGGATGGATCCAC	0.488																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1210-1212)Gat>Aat		carnosine dipeptidase 1 (metallopeptidase M20 family)							164.0	142.0	149.0					18																	72250826		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72250826G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1339G>A	18.37:g.72250826G>A	ENSP00000351682:p.Asp447Asn					CNDP1_ENST00000358821.3_Missense_Mutation_p.D447N	p.D404N			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1276	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	447					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1210G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	34	5.405486	0.96051	.	.	ENSG00000150656	ENST00000358821	T	0.50277	0.75	5.62	5.62	0.85841	.	0.047770	0.85682	D	0.000000	T	0.66944	0.2841	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68473	-0.5399	10	0.87932	D	0	-32.1742	18.4328	0.90632	0.0:0.0:1.0:0.0	.	447	Q96KN2	CNDP1_HUMAN	N	447	ENSP00000351682:D447N	ENSP00000351682:D447N	D	+	1	0	CNDP1	70401806	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.503000	0.97984	2.633000	0.89246	0.655000	0.94253	GAT		0.488	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		29	52	0	0	0	1	0	29	52				
SLC6A1	6529	broad.mit.edu	37	3	11067193	11067193	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:11067193G>A	ENST00000287766.4	+	8	1194	c.773G>A	c.(772-774)gGa>gAa	p.G258E	SLC6A1_ENST00000536032.1_Missense_Mutation_p.G80E	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	258					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTCTTCCGTGGAGTGACGCTG	0.582																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(772-774)gGa>gAa		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						154.0	114.0	127.0					3																	11067193		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067193G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.773G>A	3.37:g.11067193G>A	ENSP00000287766:p.Gly258Glu					SLC6A1_ENST00000536032.1_Missense_Mutation_p.G80E	p.G258E	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	8	1194	+		Ovarian(110;0.0392)	258					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.773G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596194	0.86953	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.79653	-1.29;-1.29	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000004	D	0.91016	0.7174	H	0.99211	4.47	0.80722	D	1	B	0.21753	0.06	B	0.33690	0.168	D	0.91520	0.5234	10	0.87932	D	0	.	18.2427	0.89973	0.0:0.0:1.0:0.0	.	258	P30531	SC6A1_HUMAN	E	258;80	ENSP00000287766:G258E;ENSP00000445171:G80E	ENSP00000287766:G258E	G	+	2	0	SLC6A1	11042193	1.000000	0.71417	0.982000	0.44146	0.962000	0.63368	9.477000	0.97925	2.547000	0.85894	0.491000	0.48974	GGA		0.582	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		12	33	0	0	0	1	0	12	33				
MYO5C	55930	broad.mit.edu	37	15	52517151	52517151	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:52517151T>G	ENST00000261839.7	-	28	3554	c.3393A>C	c.(3391-3393)ttA>ttC	p.L1131F		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1131						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCTCATTTAAATGTTCCA	0.338																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3391-3393)ttA>ttC		myosin VC							118.0	112.0	114.0					15																	52517151		1824	4075	5899	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52517151T>G	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3393A>C	15.37:g.52517151T>G	ENSP00000261839:p.Leu1131Phe						p.L1131F	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	28	3554	-			1131					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3393A>C	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473091	0.63737	.	.	ENSG00000128833	ENST00000261839	T	0.35048	1.33	5.89	0.885	0.19188	.	0.089061	0.42682	D	0.000665	T	0.41143	0.1146	L	0.38175	1.15	0.80722	D	1	D	0.64830	0.994	D	0.67382	0.951	T	0.13629	-1.0502	10	0.49607	T	0.09	.	6.5408	0.22378	0.0:0.1909:0.1194:0.6897	.	1131	Q9NQX4	MYO5C_HUMAN	F	1131	ENSP00000261839:L1131F	ENSP00000261839:L1131F	L	-	3	2	MYO5C	50304443	1.000000	0.71417	0.995000	0.50966	0.769000	0.43574	1.052000	0.30429	-0.096000	0.12329	-0.316000	0.08728	TTA		0.338	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		24	31	0	0	0	1	0	24	31				
OR51V1	283111	broad.mit.edu	37	11	5221712	5221712	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:5221712G>A	ENST00000321255.1	-	1	218	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCAGCATGGACAGGAAGT	0.527																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(217-219)tcC>tcT		olfactory receptor, family 51, subfamily V, member 1							106.0	89.0	95.0					11																	5221712		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221712G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.219C>T	11.37:g.5221712G>A							p.S73S	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	218	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	73						Silent	SNP	ENST00000321255.1	37	c.219C>T	CCDS31375.1																																																																																				0.527	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		31	50	0	0	0	1	0	31	50				
OR8B2	26595	broad.mit.edu	37	11	124252876	124252876	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:124252876G>A	ENST00000375013.2	-	1	382	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	122						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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCCACATAGCGATCATATGCC	0.413																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(364-366)Cgc>Tgc		olfactory receptor, family 8, subfamily B, member 2							60.0	60.0	60.0					11																	124252876		2201	4297	6498	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252876G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.364C>T	11.37:g.124252876G>A	ENSP00000364152:p.Arg122Cys						p.R122C	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	382	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	122					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.364C>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.211807	0.58452	.	.	ENSG00000204293	ENST00000375013	T	0.77358	-1.09	4.2	1.18	0.20946	GPCR, rhodopsin-like superfamily (1);	0.103551	0.43919	D	0.000518	D	0.85111	0.5622	M	0.81179	2.53	0.44579	D	0.997545	D	0.89917	1.0	D	0.79784	0.993	T	0.82709	-0.0323	10	0.66056	D	0.02	.	7.5341	0.27700	0.0814:0.0:0.6294:0.2892	.	122	Q96RD0	OR8B2_HUMAN	C	122	ENSP00000364152:R122C	ENSP00000364152:R122C	R	-	1	0	OR8B2	123758086	0.992000	0.36948	0.986000	0.45419	0.774000	0.43823	1.160000	0.31761	0.157000	0.19338	0.400000	0.26472	CGC		0.413	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		10	28	0	0	0	1	0	10	28				
TBC1D26	353149	broad.mit.edu	37	17	15638708	15638708	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:15638708G>A	ENST00000437605.2	+	3	296	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.G16S	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	16							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CCAGGGGCAAGGCAATATCAT	0.582																																						ENST00000437605.2																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7						c.(46-48)Ggc>Agc		TBC1 domain family, member 26							117.0	121.0	120.0					17																	15638708		1957	4140	6097	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15638708G>A		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.46G>A	17.37:g.15638708G>A	ENSP00000410111:p.Gly16Ser					AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.G16S	p.G16S	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	3	296	+			16					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.46G>A	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	g	5.384	0.256095	0.10185	.	.	ENSG00000214946	ENST00000437605	T	0.29142	1.58	0.641	0.641	0.17759	.	0.311042	0.28865	U	0.013881	T	0.30603	0.0770	L	0.34521	1.04	0.09310	N	1	P;D	0.58268	0.941;0.982	P;P	0.55615	0.607;0.78	T	0.08391	-1.0724	9	0.40728	T	0.16	.	.	.	.	.	16;16	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	S	16	ENSP00000410111:G16S	ENSP00000410111:G16S	G	+	1	0	TBC1D26	15579433	0.011000	0.17503	0.012000	0.15200	0.013000	0.08279	0.871000	0.28023	0.604000	0.29930	0.467000	0.42956	GGC		0.582	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		44	59	0	0	0	1	0	44	59				
UBR4	23352	broad.mit.edu	37	1	19440289	19440289	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:19440289G>T	ENST00000375254.3	-	77	11388	c.11361C>A	c.(11359-11361)tcC>tcA	p.S3787S	UBR4_ENST00000375226.2_Silent_p.S3763S|UBR4_ENST00000375267.2_Silent_p.S3787S|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Silent_p.S3780S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3787					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCAGAAGTGGAGCTGATGC	0.512											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11359-11361)tcC>tcA		ubiquitin protein ligase E3 component n-recognin 4							125.0	121.0	122.0					1																	19440289		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19440289G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11361C>A	1.37:g.19440289G>T			OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	733	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375254.3_Silent_p.S3787S|UBR4_ENST00000375217.2_Silent_p.S3780S|UBR4_ENST00000375226.2_Silent_p.S3763S	p.S3787S			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	77	11364	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3787					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.11361C>A	CCDS189.1																																																																																				0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		78	36	1	0	1.10345e-40	1	1.12949e-40	78	36				
PCDHA13	56136	broad.mit.edu	37	5	140263184	140263184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140263184G>A	ENST00000289272.2	+	1	1331	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G444E|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCGGTGGGGGTGGCCGAC	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1330-1332)gGg>gAg									74.0	79.0	77.0					5																	140263184		2203	4297	6500	SO:0001583	missense	56136							g.chr5:140263184G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1331G>A	5.37:g.140263184G>A	ENSP00000289272:p.Gly444Glu					PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G444E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.G444E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1331	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1331G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	0.315	-0.965614	0.02249	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.47528	0.84;0.84	5.19	0.825	0.18824	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.08492	0.0211	N	0.00071	-2.275	0.19575	N	0.999966	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.001	T	0.41805	-0.9488	9	0.02654	T	1	.	5.4034	0.16308	0.5358:0.2393:0.2249:0.0	.	444;444;444	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	444	ENSP00000386821:G444E;ENSP00000289272:G444E	ENSP00000289272:G444E	G	+	2	0	PCDHA13	140243368	0.000000	0.05858	1.000000	0.80357	0.954000	0.61252	-1.167000	0.03126	0.786000	0.33708	-0.459000	0.05422	GGG		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		65	100	0	0	0	1	0	65	100				
SRGAP3	9901	broad.mit.edu	37	3	9055173	9055173	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:9055173C>T	ENST00000383836.3	-	17	2393	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	SRGAP3_ENST00000360413.3_Missense_Mutation_p.A632T|SRGAP3_ENST00000433332.3_5'Flank|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	656	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGCAGATGGCCAGGTTGTAG	0.542			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1966-1968)Gcc>Acc		SLIT-ROBO Rho GTPase activating protein 3							116.0	105.0	109.0					3																	9055173		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055173C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1966G>A	3.37:g.9055173C>T	ENSP00000373347:p.Ala656Thr					SRGAP3_ENST00000360413.3_Missense_Mutation_p.A632T	p.A656T	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2393	-			656			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1966G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516301	0.96402	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.62498	0.02;1.02	5.54	5.54	0.83059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.85948	0.5816	H	0.95645	3.7	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.77557	0.989;0.99	D	0.89877	0.4027	10	0.87932	D	0	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	632;656	O43295-2;O43295	.;SRGP2_HUMAN	T	656;632	ENSP00000373347:A656T;ENSP00000353587:A632T	ENSP00000353587:A632T	A	-	1	0	SRGAP3	9030173	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.770000	0.85390	2.606000	0.88127	0.655000	0.94253	GCC		0.542	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			19	36	0	0	0	1	0	19	36				
SLC36A2	153201	broad.mit.edu	37	5	150722526	150722526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150722526C>T	ENST00000335244.4	-	4	492	c.363G>A	c.(361-363)atG>atA	p.M121I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.M121I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	121					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CCCCATAGTCCATAAAGGGCT	0.498																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(361-363)atG>atA		solute carrier family 36 (proton/amino acid symporter), member 2							144.0	120.0	128.0					5																	150722526		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150722526C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.363G>A	5.37:g.150722526C>T	ENSP00000334223:p.Met121Ile					SLC36A2_ENST00000521967.1_Missense_Mutation_p.M121I	p.M121I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	492	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	121					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.363G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054993	0.55325	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02345	4.33;4.33	4.87	4.87	0.63330	.	0.443787	0.27941	N	0.017240	T	0.04679	0.0127	L	0.41124	1.26	0.80722	D	1	B;B;B	0.23249	0.082;0.062;0.082	B;B;B	0.33568	0.166;0.099;0.1	T	0.45279	-0.9272	10	0.46703	T	0.11	-16.8982	14.002	0.64439	0.1518:0.8482:0.0:0.0	.	121;121;121	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	I	121	ENSP00000334223:M121I;ENSP00000430535:M121I	ENSP00000334223:M121I	M	-	3	0	SLC36A2	150702719	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.920000	0.48844	2.683000	0.91414	0.655000	0.94253	ATG		0.498	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			25	35	0	0	0	1	0	25	35				
SLC24A4	123041	broad.mit.edu	37	14	92949034	92949034	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:92949034G>A	ENST00000532405.1	+	13	1492	c.1266G>A	c.(1264-1266)ggG>ggA	p.G422G	SLC24A4_ENST00000393265.2_Silent_p.G358G|SLC24A4_ENST00000531433.1_Silent_p.G403G|SLC24A4_ENST00000298877.1_Silent_p.G405G|SLC24A4_ENST00000351924.5_Silent_p.G386G			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	422					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGGCCAGAGGGGACAAGGTCA	0.562																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(1264-1266)ggG>ggA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							101.0	90.0	94.0					14																	92949034		2203	4300	6503	SO:0001819	synonymous_variant	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92949034G>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1266G>A	14.37:g.92949034G>A						SLC24A4_ENST00000393265.2_Silent_p.G358G|SLC24A4_ENST00000298877.1_Silent_p.G405G|SLC24A4_ENST00000531433.1_Silent_p.G403G|SLC24A4_ENST00000351924.5_Silent_p.G386G	p.G422G			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	13	1492	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	422					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Silent	SNP	ENST00000532405.1	37	c.1266G>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091329	0.20471	.	.	ENSG00000140090	ENST00000525557	T	0.70749	-0.51	5.63	1.72	0.24424	.	0.393402	0.30940	N	0.008571	T	0.63058	0.2479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50964	-0.8765	7	0.24483	T	0.36	.	6.2623	0.20907	0.2054:0.2551:0.5395:0.0	.	.	.	.	R	288	ENSP00000432464:G288R	ENSP00000432464:G288R	G	+	1	0	SLC24A4	92018787	1.000000	0.71417	0.988000	0.46212	0.960000	0.62799	1.668000	0.37481	0.047000	0.15862	0.561000	0.74099	GGA		0.562	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		35	50	0	0	0	1	0	35	50				
TNIP2	79155	broad.mit.edu	37	4	2757795	2757795	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:2757795G>A	ENST00000315423.7	-	1	308	c.222C>T	c.(220-222)ttC>ttT	p.F74F	TNIP2_ENST00000503235.1_Silent_p.F74F|TNIP2_ENST00000510267.1_5'UTR	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2											breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTGCTCCCGGAAGCGCGCAA	0.751																																						ENST00000315423.7																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14						c.(220-222)ttC>ttT		TNFAIP3 interacting protein 2							5.0	7.0	6.0					4																	2757795		1824	3876	5700	SO:0001819	synonymous_variant	79155					cytosol	protein binding	g.chr4:2757795G>A	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.222C>T	4.37:g.2757795G>A						TNIP2_ENST00000503235.1_Silent_p.F74F|TNIP2_ENST00000510267.1_5'UTR	p.F74F	NM_024309.3	NP_077285.3	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	308	-			74						Silent	SNP	ENST00000315423.7	37	c.222C>T	CCDS3362.1																																																																																				0.751	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		3	4	0	0	0	1	0	3	4				
PRDM9	56979	broad.mit.edu	37	5	23526363	23526363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:23526363C>T	ENST00000296682.3	+	11	1348	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	389					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGATCCATCCATGTCCCTCA	0.438										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1165-1167)cCa>cTa		PR domain containing 9							111.0	107.0	108.0					5																	23526363		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526363C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1166C>T	5.37:g.23526363C>T	ENSP00000296682:p.Pro389Leu	HNSCC(3;0.000094)					p.P389L	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1348	+			389					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1166C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371457	0.24771	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08984	3.03	3.52	2.63	0.31362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.36200	N	0.002731	T	0.10035	0.0246	L	0.61387	1.9	0.40222	D	0.977745	P	0.43094	0.799	B	0.40782	0.34	T	0.07366	-1.0776	10	0.52906	T	0.07	-3.9173	7.6229	0.28195	0.0:0.8675:0.0:0.1325	.	389	Q9NQV7	PRDM9_HUMAN	L	389;183	ENSP00000296682:P389L	ENSP00000253473:P183L	P	+	2	0	PRDM9	23562120	0.054000	0.20591	0.311000	0.25182	0.130000	0.20726	-0.688000	0.05150	0.730000	0.32425	0.400000	0.26472	CCA		0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		32	54	0	0	0	1	0	32	54				
CHDH	55349	broad.mit.edu	37	3	53857424	53857424	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:53857424C>T	ENST00000315251.6	-	3	1049	c.612G>A	c.(610-612)gaG>gaA	p.E204E		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	204					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GCTGCGTGGCCTCCAGGAATG	0.682																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(610-612)gaG>gaA		choline dehydrogenase	Choline(DB00122)						39.0	40.0	40.0					3																	53857424		2201	4300	6501	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53857424C>T	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.612G>A	3.37:g.53857424C>T							p.E204E	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	3	1049	-		Hepatocellular(537;0.152)	204					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.612G>A	CCDS2873.1																																																																																				0.682	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		6	9	0	0	0	1	0	6	9				
LRRTM1	347730	broad.mit.edu	37	2	80530927	80530927	+	Silent	SNP	G	G	A	rs199727460		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:80530927G>A	ENST00000295057.3	-	2	674	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L6L|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	6					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GACAGAGACCGAGCAGCAGGA	0.567										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(16-18)ctC>ctT		leucine rich repeat transmembrane neuronal 1							27.0	30.0	29.0					2																	80530927		2006	4133	6139	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530927G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.18C>T	2.37:g.80530927G>A		HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L6L	p.L6L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	674	-			6					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.18C>T	CCDS1966.1																																																																																				0.567	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		21	35	0	0	0	1	0	21	35				
LONRF2	164832	broad.mit.edu	37	2	100910724	100910724	+	Missense_Mutation	SNP	C	C	T	rs373744289		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:100910724C>T	ENST00000393437.3	-	9	2363	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	LONRF2_ENST00000409647.1_Missense_Mutation_p.R332Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	575	Lon.						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						CATGCCAAACCGCTTGGTGCC	0.502																																						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.(1723-1725)cGg>cAg		LON peptidase N-terminal domain and ring finger 2		C	GLN/ARG	0,4406		0,0,2203	113.0	97.0	103.0		1724	2.3	0.0	2		103	1,8599	1.2+/-3.3	0,1,4299	no	missense	LONRF2	NM_198461.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	575/755	100910724	1,13005	2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100910724C>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.1724G>A	2.37:g.100910724C>T	ENSP00000377086:p.Arg575Gln					LONRF2_ENST00000409647.1_Missense_Mutation_p.R332Q	p.R575Q	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			9	2363	-			575			Lon.		B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1724G>A	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.392879	0.01185	0.0	1.16E-4	ENSG00000170500	ENST00000393437;ENST00000409647	T;T	0.44083	0.93;0.93	4.08	2.26	0.28386	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.127889	0.52532	N	0.000080	T	0.10680	0.0261	N	0.01522	-0.82	0.31659	N	0.645772	B	0.31730	0.337	B	0.22152	0.038	T	0.38243	-0.9670	10	0.02654	T	1	-5.2424	6.4261	0.21770	0.0:0.5293:0.0:0.4707	.	575	Q1L5Z9	LONF2_HUMAN	Q	575;332	ENSP00000377086:R575Q;ENSP00000386823:R332Q	ENSP00000377086:R575Q	R	-	2	0	LONRF2	100277156	1.000000	0.71417	0.011000	0.14972	0.007000	0.05969	4.186000	0.58337	0.305000	0.22832	-0.136000	0.14681	CGG		0.502	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		22	46	0	0	0	1	0	22	46				
CYP2J2	1573	broad.mit.edu	37	1	60375617	60375617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:60375617G>A	ENST00000371204.3	-	5	743	c.700C>T	c.(700-702)Cca>Tca	p.P234S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	234					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	ATTATCCATGGAAAGACATTG	0.353																																						ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(700-702)Cca>Tca		cytochrome P450, family 2, subfamily J, polypeptide 2							77.0	78.0	78.0					1																	60375617		2203	4299	6502	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60375617G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.700C>T	1.37:g.60375617G>A	ENSP00000360247:p.Pro234Ser					CYP2J2_ENST00000492633.1_5'UTR	p.P234S	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			5	743	-	all_cancers(7;0.000396)		234					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.700C>T	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457304	0.84317	.	.	ENSG00000134716	ENST00000371204	T	0.72051	-0.62	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.80508	2.5	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.83210	-0.0074	10	0.37606	T	0.19	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	234	P51589	CP2J2_HUMAN	S	234	ENSP00000360247:P234S	ENSP00000360247:P234S	P	-	1	0	CYP2J2	60148205	1.000000	0.71417	0.991000	0.47740	0.642000	0.38348	9.006000	0.93592	2.824000	0.97209	0.650000	0.86243	CCA		0.353	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		14	19	0	0	0	1	0	14	19				
KIAA0319	9856	broad.mit.edu	37	6	24596621	24596621	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:24596621C>T	ENST00000378214.3	-	3	805	c.281G>A	c.(280-282)gGc>gAc	p.G94D	KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G85D|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49D|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94D	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	94	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTGATGGGGCCCATCTTCTT	0.602																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(253-255)gGc>gAc		KIAA0319							56.0	64.0	61.0					6																	24596621		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596621C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.281G>A	6.37:g.24596621C>T	ENSP00000367459:p.Gly94Asp					KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94D|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49D|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94D	p.G85D	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	896	-			94			MANSC.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.254G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	2.515	-0.312159	0.05422	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06142	3.34;3.35;3.35;3.34;3.34	3.9	1.9	0.25705	Seven cysteines (1);Seven cysteines, N-terminal (1);	0.826220	0.10721	N	0.641753	T	0.01029	0.0034	N	0.25647	0.755	0.09310	N	0.999997	B;B;B	0.14805	0.003;0.011;0.007	B;B;B	0.16722	0.007;0.016;0.004	T	0.47911	-0.9080	10	0.07644	T	0.81	-7.893	4.1979	0.10452	0.0:0.4592:0.0:0.5408	.	94;85;94	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	D	94;85;49;94;94	ENSP00000439700:G94D;ENSP00000442403:G85D;ENSP00000401086:G49D;ENSP00000367459:G94D;ENSP00000437656:G94D	ENSP00000367459:G94D	G	-	2	0	KIAA0319	24704600	0.753000	0.28349	0.106000	0.21319	0.979000	0.70002	2.387000	0.44389	0.834000	0.34852	0.514000	0.50259	GGC		0.602	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		25	19	0	0	0	1	0	25	19				
HEPHL1	341208	broad.mit.edu	37	11	93822041	93822041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:93822041C>T	ENST00000315765.9	+	12	2209	c.2201C>T	c.(2200-2202)aCt>aTt	p.T734I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	734	Plastocyanin-like 5.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGATAAGAACTTTTTACATC	0.527																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(2200-2202)aCt>aTt		hephaestin-like 1							91.0	93.0	93.0					11																	93822041		1932	4141	6073	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93822041C>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.2201C>T	11.37:g.93822041C>T	ENSP00000313699:p.Thr734Ile						p.T734I	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			12	2209	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	734			Plastocyanin-like 5.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.2201C>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087292	0.36855	.	.	ENSG00000181333	ENST00000315765	D	0.98914	-5.23	5.53	4.61	0.57282	Cupredoxin (2);	0.424697	0.27754	N	0.018000	D	0.96803	0.8956	L	0.61218	1.895	0.30803	N	0.739683	B	0.24368	0.102	B	0.25291	0.059	D	0.93206	0.6596	10	0.16420	T	0.52	.	11.0429	0.47842	0.0:0.8593:0.0:0.1407	.	734	Q6MZM0	HPHL1_HUMAN	I	734	ENSP00000313699:T734I	ENSP00000313699:T734I	T	+	2	0	HEPHL1	93461689	0.134000	0.22483	1.000000	0.80357	0.926000	0.56050	1.496000	0.35638	2.602000	0.87976	0.455000	0.32223	ACT		0.527	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		27	48	0	0	0	1	0	27	48				
CTTNBP2	83992	broad.mit.edu	37	7	117420625	117420625	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:117420625G>A	ENST00000160373.3	-	7	2484	c.2393C>T	c.(2392-2394)tCa>tTa	p.S798L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	798					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)		AGCATCATATGAAATTAATAA	0.338																																						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.(2392-2394)tCa>tTa		cortactin binding protein 2							103.0	104.0	104.0					7																	117420625		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117420625G>A		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.2393C>T	7.37:g.117420625G>A	ENSP00000160373:p.Ser798Leu						p.S798L	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	7	2484	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		798					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2393C>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998026	0.54147	.	.	ENSG00000077063	ENST00000160373	T	0.56103	0.48	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.428797	0.29342	N	0.012423	T	0.46983	0.1421	L	0.52364	1.645	0.24793	N	0.992744	B	0.19935	0.04	B	0.23574	0.047	T	0.45011	-0.9290	10	0.72032	D	0.01	0.0867	9.3039	0.37863	0.0785:0.0:0.7741:0.1474	.	798	Q8WZ74	CTTB2_HUMAN	L	798	ENSP00000160373:S798L	ENSP00000160373:S798L	S	-	2	0	CTTNBP2	117207861	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.261000	0.51530	2.894000	0.99253	0.655000	0.94253	TCA		0.338	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		29	59	0	0	0	1	0	29	59				
OBSCN	84033	broad.mit.edu	37	1	228553779	228553779	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228553779C>T	ENST00000422127.1	+	83	19112	c.19068C>T	c.(19066-19068)ccC>ccT	p.P6356P	OBSCN_ENST00000366707.4_Silent_p.P3990P|OBSCN_ENST00000570156.2_Silent_p.P7313P	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6356					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)				TCCCAGGGCCCCCATCCATGC	0.627																																						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.(21937-21939)ccC>ccT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							54.0	59.0	57.0					1																	228553779		2069	4197	6266	SO:0001819	synonymous_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.chr1:228553779C>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.19068C>T	1.37:g.228553779C>T						OBSCN_ENST00000422127.1_Silent_p.P6356P|OBSCN_ENST00000366707.4_Silent_p.P3990P	p.P7313P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			94	22013	+		Prostate(94;0.0405)	6356					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.21939C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221482	0.39300	.	.	ENSG00000154358	ENST00000441106	T	0.76060	-0.99	5.41	1.23	0.21249	.	.	.	.	.	T	0.60818	0.2298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46624	-0.9178	6	0.20519	T	0.43	.	2.1573	0.03815	0.4571:0.2748:0.149:0.1191	.	.	.	.	S	973	ENSP00000388554:P973S	ENSP00000388554:P973S	P	+	1	0	OBSCN	226620402	0.940000	0.31905	0.994000	0.49952	0.698000	0.40448	-0.053000	0.11846	0.211000	0.20683	0.313000	0.20887	CCC		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		24	18	0	0	0	1	0	24	18				
GOLGA3	2802	broad.mit.edu	37	12	133393162	133393162	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:133393162G>A	ENST00000450791.2	-	2	553	c.370C>T	c.(370-372)Ctc>Ttc	p.L124F	GOLGA3_ENST00000456883.2_Missense_Mutation_p.L124F|GOLGA3_ENST00000545875.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000204726.3_Missense_Mutation_p.L124F|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L124F			Q08378	GOGA3_HUMAN	golgin A3	124	Interaction with GOPC.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTGAGTCTGAGAGACTGCAAA	0.542																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(370-372)Ctc>Ttc		golgin A3							109.0	92.0	98.0					12																	133393162		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133393162G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.370C>T	12.37:g.133393162G>A	ENSP00000410378:p.Leu124Phe					GOLGA3_ENST00000545875.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L124F|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L124F	p.L124F	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	3	928	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	124			Interaction with GOPC.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.370C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139662	0.94560	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.55930	0.99;0.99;0.98;0.49;0.49	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74247	-0.3727	10	0.87932	D	0	.	20.0591	0.97667	0.0:0.0:1.0:0.0	.	124;124;124	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	F	124	ENSP00000204726:L124F;ENSP00000410378:L124F;ENSP00000409303:L124F;ENSP00000442143:L124F;ENSP00000442603:L124F	ENSP00000204726:L124F	L	-	1	0	GOLGA3	131903235	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.467000	0.97671	2.747000	0.94245	0.462000	0.41574	CTC		0.542	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		60	47	0	0	0	1	0	60	47				
NEURL4	84461	broad.mit.edu	37	17	7221175	7221175	+	Silent	SNP	G	G	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:7221175G>T	ENST00000399464.2	-	26	4152	c.4137C>A	c.(4135-4137)gcC>gcA	p.A1379A	NEURL4_ENST00000574120.1_5'UTR|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.P193H|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000570460.1_Silent_p.A1355A|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Silent_p.A1377A|GPS2_ENST00000389167.5_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1379						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCGCCTGTGGGCCTCGTCTC	0.582																																						ENST00000575474.1																			0											c.(577-579)cCc>cAc									50.0	55.0	53.0					17																	7221175		2097	4231	6328	SO:0001819	synonymous_variant	0							g.chr17:7221175G>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4137C>A	17.37:g.7221175G>T						NEURL4_ENST00000315614.7_Silent_p.A1377A|NEURL4_ENST00000399464.2_Silent_p.A1379A|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1355A	p.P193H							5	577	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.578C>A	CCDS42251.1																																																																																				0.582	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		31	27	1	0	9.65021e-13	1	9.78196e-13	31	27				
OR8K1	390157	broad.mit.edu	37	11	56114290	56114290	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56114290G>A	ENST00000279783.2	+	1	870	c.776G>A	c.(775-777)gGg>gAg	p.G259E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATGTTCTATGGGACATTGTTA	0.403										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(775-777)gGg>gAg		olfactory receptor, family 8, subfamily K, member 1							124.0	109.0	114.0					11																	56114290		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114290G>A	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.776G>A	11.37:g.56114290G>A	ENSP00000279783:p.Gly259Glu	HNSCC(65;0.19)					p.G259E	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	870	+	Esophageal squamous(21;0.00448)		259					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.776G>A	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764656	0.49574	.	.	ENSG00000150261	ENST00000279783	T	0.39056	1.1	5.0	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000135	T	0.75199	0.3817	H	0.99286	4.5	0.19775	N	0.999958	D	0.71674	0.998	D	0.63877	0.919	T	0.73004	-0.4119	10	0.87932	D	0	-9.5745	9.9875	0.41849	0.0741:0.0:0.7878:0.1381	.	259	Q8NGG5	OR8K1_HUMAN	E	259	ENSP00000279783:G259E	ENSP00000279783:G259E	G	+	2	0	OR8K1	55870866	0.000000	0.05858	1.000000	0.80357	0.745000	0.42441	0.058000	0.14301	1.069000	0.40788	0.549000	0.68633	GGG		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		20	36	0	0	0	1	0	20	36				
PLEC	5339	broad.mit.edu	37	8	144991690	144991690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:144991690G>A	ENST00000322810.4	-	32	12879	c.12710C>T	c.(12709-12711)aCc>aTc	p.T4237I	PLEC_ENST00000356346.3_Missense_Mutation_p.T4086I|PLEC_ENST00000354958.2_Missense_Mutation_p.T4078I|PLEC_ENST00000527096.1_Missense_Mutation_p.T4123I|PLEC_ENST00000354589.3_Missense_Mutation_p.T4100I|PLEC_ENST00000436759.2_Missense_Mutation_p.T4127I|PLEC_ENST00000398774.2_Missense_Mutation_p.T4068I|PLEC_ENST00000357649.2_Missense_Mutation_p.T4104I|PLEC_ENST00000345136.3_Missense_Mutation_p.T4100I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4237	Globular 2.				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						CTGCAGGTAGGTGAGGTTCTC	0.587																																						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.(12709-12711)aCc>aTc		plectin							58.0	64.0	62.0					8																	144991690		2098	4221	6319	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991690G>A	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.12710C>T	8.37:g.144991690G>A	ENSP00000323856:p.Thr4237Ile					PLEC_ENST00000527096.1_Missense_Mutation_p.T4123I|PLEC_ENST00000345136.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354589.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354958.2_Missense_Mutation_p.T4078I|PLEC_ENST00000356346.3_Missense_Mutation_p.T4086I|PLEC_ENST00000357649.2_Missense_Mutation_p.T4104I|PLEC_ENST00000436759.2_Missense_Mutation_p.T4127I|PLEC_ENST00000398774.2_Missense_Mutation_p.T4068I	p.T4237I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12879	-			4237			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12710C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098596	0.37048	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.14	5.14	0.70334	.	0.000000	0.64402	U	0.000005	D	0.85592	0.5732	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.77004	0.989;0.989;0.989;0.976;0.989;0.989;0.989;0.989	D	0.87466	0.2411	10	0.87932	D	0	.	18.4072	0.90539	0.0:0.0:1.0:0.0	.	4127;4086;4078;4237;4068;4100;4104;4100	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	I	4100;4104;4100;4068;4237;4078;4086;4127;4123	ENSP00000344848:T4100I;ENSP00000350277:T4104I;ENSP00000346602:T4100I;ENSP00000381756:T4068I;ENSP00000323856:T4237I;ENSP00000347044:T4078I;ENSP00000348702:T4086I;ENSP00000388180:T4127I;ENSP00000434583:T4123I	ENSP00000323856:T4237I	T	-	2	0	PLEC	145063678	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.744000	0.85034	2.679000	0.91253	0.549000	0.68633	ACC		0.587	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		32	49	0	0	0	1	0	32	49				
HRAS	3265	broad.mit.edu	37	11	533830	533830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:533830C>A	ENST00000451590.1	-	3	413	c.226G>T	c.(226-228)Gag>Tag	p.E76*	HRAS_ENST00000397594.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000417302.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000311189.7_Nonsense_Mutation_p.E76*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.E76*|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	76					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAAGCCCTCCCCGGTGCGC	0.617		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		0				adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(226-228)Gag>Tag		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						112.0	94.0	100.0					11																	533830		2202	4300	6502	SO:0001587	stop_gained	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533830C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.226G>T	11.37:g.533830C>A	ENSP00000407586:p.Glu76*	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000311189.7_Nonsense_Mutation_p.E76*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.E76*|HRAS_ENST00000451590.1_Nonsense_Mutation_p.E76*	p.E76*	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	413	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	76					B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Nonsense_Mutation	SNP	ENST00000451590.1	37	c.226G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916826	0.73098	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	.	.	.	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	14.8426	0.70237	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000309845:E76X	E	-	1	0	HRAS	523830	1.000000	0.71417	0.900000	0.35374	0.151000	0.21798	5.787000	0.69013	2.045000	0.60652	0.561000	0.74099	GAG		0.617	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		35	64	1	0	9.04072e-19	1	9.2201e-19	35	64				
DSP	1832	broad.mit.edu	37	6	7571787	7571787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:7571787C>T	ENST00000379802.3	+	14	2214	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	625	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGTCATTCAGCTCCCTGG	0.468																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1873-1875)Cag>Tag		desmoplakin							128.0	117.0	121.0					6																	7571787		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571787C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1873C>T	6.37:g.7571787C>T	ENSP00000369129:p.Gln625*					DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625*	p.Q625*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2214	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	625			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.1873C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	43	10.444993	0.99406	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	625;625;430	.	ENSP00000369129:Q625X	Q	+	1	0	DSP	7516786	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	4.422000	0.59854	2.802000	0.96397	0.655000	0.94253	CAG		0.468	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		46	24	0	0	0	1	0	46	24				
ITK	3702	broad.mit.edu	37	5	156608056	156608056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:156608056C>T	ENST00000422843.3	+	1	220	c.68C>T	c.(67-69)cCc>cTc	p.P23L		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		P -> L (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.P23L(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGAACTTCTCCCTCGAACTTT	0.433			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		1	Substitution - Missense(1)	p.P23L(1)	skin(1)	breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(67-69)cCc>cTc		IL2-inducible T-cell kinase							116.0	108.0	111.0					5																	156608056		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608056C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.68C>T	5.37:g.156608056C>T	ENSP00000398655:p.Pro23Leu						p.P23L	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	220	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	23		P -> L (in a metastatic melanoma sample; somatic mutation).	PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.68C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072026	0.76415	.	.	ENSG00000113263	ENST00000422843	D	0.93659	-3.26	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95676	0.8728	10	0.52906	T	0.07	.	17.7387	0.88402	0.0:1.0:0.0:0.0	.	23	Q08881	ITK_HUMAN	L	23	ENSP00000398655:P23L	ENSP00000398655:P23L	P	+	2	0	ITK	156540634	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	5.859000	0.69539	2.614000	0.88457	0.655000	0.94253	CCC		0.433	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			38	74	0	0	0	1	0	38	74				
MCCC1	56922	broad.mit.edu	37	3	182790237	182790237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:182790237C>T	ENST00000265594.4	-	5	554	c.408G>A	c.(406-408)atG>atA	p.M136I	MCCC1_ENST00000492597.1_Missense_Mutation_p.M27I|MCCC1_ENST00000539926.1_Start_Codon_SNP_p.M1I	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	136	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CAGCAAATTCCATGTTTTCTG	0.358																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(79-81)atG>atA		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						53.0	54.0	54.0					3																	182790237		2203	4299	6502	SO:0001583	missense	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182790237C>T	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.408G>A	3.37:g.182790237C>T	ENSP00000265594:p.Met136Ile					MCCC1_ENST00000265594.4_Missense_Mutation_p.M136I|MCCC1_ENST00000539926.1_Start_Codon_SNP_p.M1I	p.M27I			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		4	783	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		136					Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	c.81G>A	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681682	0.47991	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.97328	-4.34;-4.34;-3.41;-4.34	5.41	2.0	0.26442	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.255835	0.49305	D	0.000154	D	0.88782	0.6530	N	0.04880	-0.145	0.80722	D	1	B;B	0.18310	0.027;0.007	B;B	0.23018	0.03;0.043	T	0.80089	-0.1528	10	0.66056	D	0.02	.	0.5633	0.00683	0.3119:0.196:0.3085:0.1836	.	89;136	E9PG35;Q96RQ3	.;MCCA_HUMAN	I	136;27;1;89;89;27	ENSP00000265594:M136I;ENSP00000419898:M27I;ENSP00000441253:M1I;ENSP00000420433:M89I	ENSP00000265594:M136I	M	-	3	0	MCCC1	184272931	0.998000	0.40836	0.971000	0.41717	0.996000	0.88848	0.427000	0.21379	0.620000	0.30215	0.655000	0.94253	ATG		0.358	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		18	24	0	0	0	1	0	18	24				
ARHGAP5	394	broad.mit.edu	37	14	32563456	32563456	+	Missense_Mutation	SNP	G	G	A	rs149893615		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:32563456G>A	ENST00000345122.3	+	2	3896	c.3581G>A	c.(3580-3582)gGa>gAa	p.G1194E	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1194E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1194					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGACATCGTGGAAGTGAAGAA	0.383																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55						c.(3580-3582)gGa>gAa		Rho GTPase activating protein 5		G	GLU/GLY,GLU/GLY	1,4405	2.1+/-5.4	0,1,2202	111.0	114.0	113.0		3581,3581	5.4	1.0	14	dbSNP_134	113	0,8590		0,0,4295	no	missense,missense	ARHGAP5	NM_001030055.1,NM_001173.2	98,98	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1194/1503,1194/1502	32563456	1,12995	2203	4295	6498	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32563456G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3581G>A	14.37:g.32563456G>A	ENSP00000371897:p.Gly1194Glu					ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1194E	p.G1194E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3896	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		1194					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.3581G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964534	0.53507	2.27E-4	0.0	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08546	3.08;3.1;3.1;3.08	5.4	5.4	0.78164	.	0.102262	0.64402	D	0.000002	T	0.11707	0.0285	N	0.19112	0.55	0.58432	D	0.999997	P;P	0.40970	0.734;0.615	P;B	0.49637	0.617;0.412	T	0.05022	-1.0911	10	0.62326	D	0.03	.	15.0683	0.72014	0.0:0.1415:0.8585:0.0	.	1194;1194	Q13017-2;Q13017	.;RHG05_HUMAN	E	1194	ENSP00000452222:G1194E;ENSP00000441692:G1194E;ENSP00000371897:G1194E;ENSP00000393307:G1194E	ENSP00000216743:G49E	G	+	2	0	ARHGAP5	31633207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.522000	0.81844	2.687000	0.91594	0.563000	0.77884	GGA		0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		44	62	0	0	0	1	0	44	62				
PCDHGA10	56106	broad.mit.edu	37	5	140793084	140793084	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140793084G>A	ENST00000398610.2	+	1	342	c.342G>A	c.(340-342)gtG>gtA	p.V114V	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCCTTGTGGAAGACAGGG	0.478																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(340-342)gtG>gtA									66.0	77.0	73.0					5																	140793084		2098	4263	6361	SO:0001819	synonymous_variant	56106							g.chr5:140793084G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.342G>A	5.37:g.140793084G>A						PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.V114V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	342	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.342G>A	CCDS47292.1																																																																																				0.478	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		32	54	0	0	0	1	0	32	54				
MAP4K3	8491	broad.mit.edu	37	2	39552766	39552766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:39552766G>A	ENST00000263881.3	-	12	1135	c.811C>T	c.(811-813)Cct>Tct	p.P271S	RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTTACAAAAGGATGCTATAAA	0.289																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(811-813)Cct>Tct		mitogen-activated protein kinase kinase kinase kinase 3							73.0	73.0	73.0					2																	39552766		2203	4300	6503	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39552766G>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.811C>T	2.37:g.39552766G>A	ENSP00000263881:p.Pro271Ser					MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271S	p.P271S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			12	1135	-		all_hematologic(82;0.211)	271			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.811C>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123859	0.37436	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.30182	1.54;2.31;1.54	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.70108	2.13	0.80722	D	1	B;B	0.20671	0.047;0.013	B;B	0.25987	0.044;0.065	T	0.15321	-1.0441	9	.	.	.	.	20.1739	0.98173	0.0:0.0:1.0:0.0	.	271;271	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	271;208;271	ENSP00000263881:P271S;ENSP00000416958:P208S;ENSP00000345434:P271S	.	P	-	1	0	MAP4K3	39406270	1.000000	0.71417	0.997000	0.53966	0.786000	0.44442	4.256000	0.58810	2.774000	0.95407	0.585000	0.79938	CCT		0.289	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		17	30	0	0	0	1	0	17	30				
MYO16	23026	broad.mit.edu	37	13	109792740	109792740	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:109792740G>A	ENST00000357550.2	+	31	4155	c.4114G>A	c.(4114-4116)Ggg>Agg	p.G1372R	MYO16_ENST00000356711.2_Missense_Mutation_p.G1372R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GTcccggcccggggacgcgag	0.721																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4114-4116)Ggg>Agg		myosin XVI							16.0	14.0	15.0					13																	109792740		2157	4207	6364	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109792740G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4114G>A	13.37:g.109792740G>A	ENSP00000350160:p.Gly1372Arg					MYO16_ENST00000357550.2_Missense_Mutation_p.G1372R	p.G1372R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4240	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1372						Missense_Mutation	SNP	ENST00000357550.2	37	c.4114G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725794	0.30593	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.45276	0.9;0.9	4.41	1.45	0.22620	.	5.863680	0.00937	U	0.002798	T	0.38108	0.1028	N	0.22421	0.69	0.09310	N	0.999999	D	0.64830	0.994	P	0.50270	0.636	T	0.12889	-1.0530	9	.	.	.	.	4.1909	0.10421	0.0884:0.1376:0.5831:0.1909	.	1372	Q9Y6X6	MYO16_HUMAN	R	1372	ENSP00000349145:G1372R;ENSP00000350160:G1372R	.	G	+	1	0	MYO16	108590741	0.989000	0.36119	0.000000	0.03702	0.395000	0.30598	3.780000	0.55386	-0.055000	0.13244	0.305000	0.20034	GGG		0.721	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		15	9	0	0	0	1	0	15	9				
PDE4DIP	9659	broad.mit.edu	37	1	144852491	144852491	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:144852491G>A	ENST00000369354.3	-	44	7197	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PDE4DIP_ENST00000369359.4_Silent_p.S2472S|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Silent_p.S2421S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S2230S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2336					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGCCCTTAGGGATTTCACCT	0.507			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7414-7416)tcC>tcT		phosphodiesterase 4D interacting protein							40.0	40.0	40.0					1																	144852491		2202	4278	6480	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144852491G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.7008C>T	1.37:g.144852491G>A						PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S2230S|PDE4DIP_ENST00000530740.1_Silent_p.S2421S|PDE4DIP_ENST00000369354.3_Silent_p.S2336S	p.S2472S			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	47	7454	-			2336					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.7416C>T	CCDS30824.1																																																																																				0.507	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		5	26	0	0	0	1	0	5	26				
MUC5B	727897	broad.mit.edu	37	11	1263793	1263793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263793G>A	ENST00000529681.1	+	31	5741	c.5683G>A	c.(5683-5685)Gcc>Acc	p.A1895T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A1898T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1895	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCTCCACGGCCACGCCCTC	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5692-5694)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							86.0	107.0	100.0					11																	1263793		2185	4270	6455	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263793G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5683G>A	11.37:g.1263793G>A	ENSP00000436812:p.Ala1895Thr					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T	p.A1898T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5750	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1895			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.5692G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	11.24	1.581583	0.28180	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.14391	2.51;2.68	3.68	-7.36	0.01417	.	.	.	.	.	T	0.09949	0.0244	L	0.50333	1.59	0.09310	N	1	B;B	0.25521	0.128;0.128	B;B	0.22386	0.039;0.039	T	0.36768	-0.9734	9	0.87932	D	0	.	4.4334	0.11538	0.5214:0.0932:0.2922:0.0932	.	2588;1898	A7Y9J9;E9PBJ0	.;.	T	1895;1898;1896;1965	ENSP00000436812:A1895T;ENSP00000415793:A1898T	ENSP00000343037:A1896T	A	+	1	0	MUC5B	1220369	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.214000	0.02988	-1.442000	0.01955	-0.970000	0.02610	GCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	62	0	0	0	1	0	34	62				
GLYR1	84656	broad.mit.edu	37	16	4867664	4867664	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:4867664C>T	ENST00000321919.9	-	10	917	c.841G>A	c.(841-843)Gga>Aga	p.G281R	GLYR1_ENST00000381983.3_Missense_Mutation_p.G264R|GLYR1_ENST00000436648.5_Missense_Mutation_p.G200R|GLYR1_ENST00000591451.1_Missense_Mutation_p.G281R	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	281					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						GAGACGATTCCACTTCCCATG	0.502																																						ENST00000321919.9																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(841-843)Gga>Aga		glyoxylate reductase 1 homolog (Arabidopsis)							170.0	144.0	152.0					16																	4867664		2197	4300	6497	SO:0001583	missense	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4867664C>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.841G>A	16.37:g.4867664C>T	ENSP00000322716:p.Gly281Arg					GLYR1_ENST00000591451.1_Missense_Mutation_p.G281R|GLYR1_ENST00000381983.3_Missense_Mutation_p.G264R|GLYR1_ENST00000436648.5_Missense_Mutation_p.G200R	p.G281R	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN			10	917	-			281					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Missense_Mutation	SNP	ENST00000321919.9	37	c.841G>A	CCDS10524.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932640	0.92458	.	.	ENSG00000140632	ENST00000321919;ENST00000381983;ENST00000436648	T;T;T	0.69926	-0.15;-0.15;-0.44	5.32	5.32	0.75619	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	N	0.17594	0.5	0.80722	D	1	P;P;P;D	0.89917	0.714;0.718;0.714;1.0	B;B;B;D	0.78314	0.354;0.266;0.183;0.991	T	0.75766	-0.3202	10	0.66056	D	0.02	-17.6059	18.1329	0.89608	0.0:1.0:0.0:0.0	.	200;281;264;281	Q49A26-5;Q49A26-3;Q49A26-2;Q49A26	.;.;.;GLYR1_HUMAN	R	281;264;200	ENSP00000322716:G281R;ENSP00000371413:G264R;ENSP00000390276:G200R	ENSP00000322716:G281R	G	-	1	0	GLYR1	4807665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.447000	0.80620	2.653000	0.90120	0.655000	0.94253	GGA		0.502	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		48	63	0	0	0	1	0	48	63				
COL6A6	131873	broad.mit.edu	37	3	130368167	130368167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:130368167C>T	ENST00000358511.6	+	32	5525	c.5494C>T	c.(5494-5496)Cct>Tct	p.P1832S	COL6A6_ENST00000453409.2_Missense_Mutation_p.P1832S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1832	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAAACTATTCCTTATGAGAG	0.512																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(5494-5496)Cct>Tct		collagen, type VI, alpha 6							26.0	27.0	27.0					3																	130368167		1887	4116	6003	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130368167C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5494C>T	3.37:g.130368167C>T	ENSP00000351310:p.Pro1832Ser					COL6A6_ENST00000453409.2_Missense_Mutation_p.P1832S	p.P1832S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			32	5525	+			1832			Nonhelical region.|VWFA 8.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.5494C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	6.331	0.429212	0.11987	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.14266	2.52;2.52	5.45	4.58	0.56647	von Willebrand factor, type A (3);	.	.	.	.	T	0.15132	0.0365	L	0.53249	1.67	0.09310	N	1	B	0.16166	0.016	B	0.17722	0.019	T	0.16335	-1.0406	9	0.27785	T	0.31	.	11.3187	0.49407	0.0:0.8538:0.0:0.1462	.	1832	A6NMZ7	CO6A6_HUMAN	S	1832	ENSP00000351310:P1832S;ENSP00000399236:P1832S	ENSP00000351310:P1832S	P	+	1	0	COL6A6	131850857	0.007000	0.16637	0.063000	0.19743	0.004000	0.04260	0.758000	0.26447	1.311000	0.45024	-0.379000	0.06801	CCT		0.512	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		6	14	0	0	0	1	0	6	14				
SLC52A3	113278	broad.mit.edu	37	20	744617	744617	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:744617G>A	ENST00000217254.7	-	3	839	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	SLC52A3_ENST00000381944.3_Missense_Mutation_p.P200S|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	200					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|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)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										TCCATTCCGGGGAGGGCGGAC	0.582																																						ENST00000381944.3																			0											c.(598-600)Ccc>Tcc		solute carrier family 52 (riboflavin transporter), member 3							27.0	25.0	25.0					20																	744617		2198	4298	6496	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744617G>A	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.598C>T	20.37:g.744617G>A	ENSP00000217254:p.Pro200Ser					SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.P200S	p.P200S			Q9NQ40	RFT2_HUMAN			3	839	-			200					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.598C>T	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	G	3.038	-0.198239	0.06219	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.71461	-0.57;-0.57	2.49	-4.97	0.03029	.	2.257260	0.01613	N	0.022624	T	0.41558	0.1164	N	0.08118	0	0.09310	N	1	B;B	0.18610	0.029;0.001	B;B	0.18871	0.023;0.001	T	0.46428	-0.9192	10	0.07030	T	0.85	.	1.774	0.03018	0.112:0.2134:0.3181:0.3565	.	200;200	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	S	200	ENSP00000217254:P200S;ENSP00000371370:P200S	ENSP00000217254:P200S	P	-	1	0	C20orf54	692617	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.737000	0.01843	-2.239000	0.00711	0.561000	0.74099	CCC		0.582	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409		5	12	0	0	0	1	0	5	12				
MTUS2	23281	broad.mit.edu	37	13	29898813	29898813	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29898813G>A	ENST00000431530.3	+	5	2958	c.2900G>A	c.(2899-2901)aGa>aAa	p.R967K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	957	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTCCTAAGAGAGTAGCAGCT	0.373																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2899-2901)aGa>aAa		microtubule associated tumor suppressor candidate 2							81.0	73.0	75.0					13																	29898813		1874	4099	5973	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29898813G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2900G>A	13.37:g.29898813G>A	ENSP00000392057:p.Arg967Lys						p.R967K	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			5	2958	+			957			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2900G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067393	0.55539	.	.	ENSG00000132938	ENST00000431530	T	0.14022	2.54	4.75	3.9	0.45041	.	0.063928	0.64402	N	0.000017	T	0.11965	0.0291	L	0.48642	1.525	0.80722	D	1	B	0.26483	0.15	B	0.26693	0.072	T	0.09662	-1.0664	9	.	.	.	.	8.6273	0.33897	0.1048:0.0:0.8952:0.0	.	957	Q5JR59	MTUS2_HUMAN	K	967	ENSP00000392057:R967K	.	R	+	2	0	MTUS2	28796813	1.000000	0.71417	0.859000	0.33776	0.682000	0.39822	2.213000	0.42844	1.208000	0.43306	0.543000	0.68304	AGA		0.373	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		3	5	0	0	0	1	0	3	5				
YJEFN3	374887	broad.mit.edu	37	19	19646390	19646390	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:19646390C>T	ENST00000514277.4	+	6	634	c.596C>T	c.(595-597)cCc>cTc	p.P199L	CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.P198L|CILP2_ENST00000586018.1_5'Flank|YJEFN3_ENST00000436027.5_Missense_Mutation_p.P149L|CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.P198L	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	199	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GTACTGGGCCCCGGCGTGGAG	0.701																																						ENST00000555938.1																			0											c.(592-594)cCc>cTc									29.0	32.0	31.0					19																	19646390		1963	4130	6093	SO:0001583	missense	374887							g.chr19:19646390C>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.596C>T	19.37:g.19646390C>T	ENSP00000426964:p.Pro199Leu					YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199L|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149L	p.P198L							7	605	+								A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.593C>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772551	0.69992	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.38401	1.14;1.14;1.14	4.37	4.37	0.52481	YjeF-related protein, N-terminal (5);	1.220040	0.05928	N	0.634596	T	0.39600	0.1084	L	0.42245	1.32	0.80722	D	1	P;P;P	0.48294	0.828;0.908;0.828	P;B;P	0.47251	0.542;0.231;0.542	T	0.17623	-1.0363	10	0.44086	T	0.13	-21.4583	8.3564	0.32333	0.0:0.8902:0.0:0.1098	.	198;149;199	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	L	198;199;149;199;149;198	ENSP00000398520:P149L;ENSP00000426964:P199L;ENSP00000452549:P198L	ENSP00000389732:P198L	P	+	2	0	YJEFN3;CTC-260F20.3	19507390	0.001000	0.12720	0.865000	0.33974	0.920000	0.55202	1.175000	0.31944	1.992000	0.58205	0.456000	0.33151	CCC		0.701	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		8	16	0	0	0	1	0	8	16				
RPAP3	79657	broad.mit.edu	37	12	48090187	48090187	+	Splice_Site	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:48090187C>T	ENST00000005386.3	-	5	533		c.e5-1		RPAP3_ENST00000432584.3_Splice_Site|RPAP3_ENST00000380650.4_Splice_Site	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3											endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATTTATTGCCCTGAAAGAAAA	0.368																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.e5-1		RNA polymerase II associated protein 3							69.0	65.0	66.0					12																	48090187		2203	4300	6503	SO:0001630	splice_region_variant	79657						binding	g.chr12:48090187C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.418-1G>A	12.37:g.48090187C>T						RPAP3_ENST00000380650.4_Splice_Site|RPAP3_ENST00000432584.3_Splice_Site		NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			5	533	-	Lung SC(27;0.192)							B4DRW9|Q6PHR5	Splice_Site	SNP	ENST00000005386.3	37		CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358802	0.82353	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1433	0.93455	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPAP3	46376454	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.445000	0.80570	2.760000	0.94817	0.655000	0.94253	.		0.368	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604	Intron	8	24	0	0	0	1	0	8	24				
PAK4	10298	broad.mit.edu	37	19	39660313	39660313	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:39660313G>A	ENST00000593690.1	+	4	547	c.120G>A	c.(118-120)caG>caA	p.Q40Q	PAK4_ENST00000435673.2_Silent_p.Q40Q|PAK4_ENST00000599470.1_Silent_p.Q40Q|PAK4_ENST00000358301.3_Silent_p.Q40Q|PAK4_ENST00000360442.3_Silent_p.Q40Q|PAK4_ENST00000321944.4_Silent_p.Q40Q|PAK4_ENST00000599386.1_Silent_p.Q40Q	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	40	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCAGTGGCAGAGCCTGATCG	0.697																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(118-120)caG>caA		p21 protein (Cdc42/Rac)-activated kinase 4							38.0	42.0	41.0					19																	39660313		2203	4299	6502	SO:0001819	synonymous_variant	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660313G>A	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.120G>A	19.37:g.39660313G>A						PAK4_ENST00000599470.1_Silent_p.Q40Q|PAK4_ENST00000435673.2_Silent_p.Q40Q|PAK4_ENST00000321944.4_Silent_p.Q40Q|PAK4_ENST00000593690.1_Silent_p.Q40Q|PAK4_ENST00000360442.3_Silent_p.Q40Q|PAK4_ENST00000358301.3_Silent_p.Q40Q	p.Q40Q	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		3	301	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		40			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	c.120G>A	CCDS12528.1																																																																																				0.697	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			28	30	0	0	0	1	0	28	30				
FBXO44	93611	broad.mit.edu	37	1	11716069	11716069	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:11716069G>A	ENST00000251547.5	+	2	259	c.177G>A	c.(175-177)gaG>gaA	p.E59E	FBXO2_ENST00000475961.1_5'Flank|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Silent_p.E59E|FBXO44_ENST00000376762.4_Silent_p.E59E|FBXO44_ENST00000376768.1_Silent_p.E59E|FBXO44_ENST00000376760.1_Silent_p.E59E|FBXO44_ENST00000376770.1_Silent_p.E59E	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	59						SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCACTGAGGACTGGGACC	0.617																																						ENST00000376770.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(175-177)gaG>gaA		F-box protein 44							92.0	96.0	95.0					1																	11716069		2203	4300	6503	SO:0001819	synonymous_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716069G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.177G>A	1.37:g.11716069G>A						FBXO44_ENST00000376768.1_Silent_p.E59E|FBXO44_ENST00000251546.4_Silent_p.E59E|FBXO44_ENST00000376760.1_Silent_p.E59E|FBXO44_ENST00000251547.5_Silent_p.E59E|FBXO44_ENST00000376762.4_Silent_p.E59E	p.E59E	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	3	675	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	59					B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Silent	SNP	ENST00000251547.5	37	c.177G>A	CCDS132.1																																																																																				0.617	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		19	76	0	0	0	1	0	19	76				
TMEM119	338773	broad.mit.edu	37	12	108985354	108985354	+	Missense_Mutation	SNP	G	G	A	rs143295982		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:108985354G>A	ENST00000392806.3	-	2	974	c.806C>T	c.(805-807)cCc>cTc	p.P269L		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	269					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GCTTTCGGGGGGACCCACTGG	0.667																																						ENST00000392806.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						c.(805-807)cCc>cTc		transmembrane protein 119		G	LEU/PRO	0,4404		0,0,2202	55.0	67.0	63.0		806	3.7	0.0	12	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	missense	TMEM119	NM_181724.2	98	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	269/284	108985354	2,13002	2202	4300	6502	SO:0001583	missense	338773					integral to membrane		g.chr12:108985354G>A	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.806C>T	12.37:g.108985354G>A	ENSP00000376553:p.Pro269Leu						p.P269L	NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN			2	974	-			269					Q6UXE5|Q8N2F5	Missense_Mutation	SNP	ENST00000392806.3	37	c.806C>T	CCDS9119.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908653	0.52439	0.0	2.33E-4	ENSG00000183160	ENST00000392806;ENST00000433191	T	0.47177	0.85	4.61	3.71	0.42584	.	0.282471	0.27730	N	0.018089	T	0.43344	0.1243	M	0.63428	1.95	0.09310	N	0.999992	B	0.19073	0.033	B	0.23419	0.046	T	0.44065	-0.9352	10	0.72032	D	0.01	-16.2729	7.6621	0.28409	0.1139:0.0:0.8861:0.0	.	269	Q4V9L6	TM119_HUMAN	L	269;203	ENSP00000376553:P269L	ENSP00000376553:P269L	P	-	2	0	TMEM119	107509483	0.039000	0.19947	0.027000	0.17364	0.014000	0.08584	1.004000	0.29822	2.112000	0.64535	0.462000	0.41574	CCC		0.667	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		54	135	0	0	0	1	0	54	135				
TTN	7273	broad.mit.edu	37	2	179606173	179606173	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:179606173C>T	ENST00000591111.1	-	46	11060	c.10836G>A	c.(10834-10836)ctG>ctA	p.L3612L	TTN_ENST00000342175.6_Silent_p.L3758L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.L3929L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.L3691L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.L3566L			Q8WZ42	TITIN_HUMAN	titin	13919					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)			CCAGCTTTTCCAGAGATTTTG	0.433																																						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.(11785-11787)ctG>ctA		titin							157.0	153.0	154.0					2																	179606173		1906	4108	6014	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606173C>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.10836G>A	2.37:g.179606173C>T						TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.L3612L|TTN_ENST00000359218.5_Silent_p.L3691L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.L3758L|TTN_ENST00000460472.2_Silent_p.L3566L|TTN-AS1_ENST00000585451.1_RNA	p.L3929L	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)		48	12011	-			3612					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	Silent	SNP	ENST00000591111.1	37	c.11787G>A																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	95	0	0	0	1	0	63	95				
DNAH11	8701	broad.mit.edu	37	7	21640716	21640716	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:21640716C>T	ENST00000409508.3	+	17	3375	c.3344C>T	c.(3343-3345)cCt>cTt	p.P1115L	DNAH11_ENST00000328843.6_Missense_Mutation_p.P1115L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1115	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						GACATGAAGCCTTTCAAAGTG	0.363									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.(3343-3345)cCt>cTt		dynein, axonemal, heavy chain 11							129.0	123.0	125.0					7																	21640716		1856	4101	5957	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.chr7:21640716C>T	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.3344C>T	7.37:g.21640716C>T	ENSP00000475939:p.Pro1115Leu					DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115L	p.P1115L			Q96DT5	DYH11_HUMAN			17	3375	+			1115			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.3344C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.579399	0.65878	.	.	ENSG00000105877	ENST00000328843	T	0.25414	1.8	5.56	4.66	0.58398	.	0.186088	0.46758	D	0.000269	T	0.24661	0.0598	.	.	.	0.58432	D	0.999999	P	0.50272	0.933	B	0.42386	0.386	T	0.02411	-1.1163	9	0.51188	T	0.08	.	9.6332	0.39791	0.1432:0.783:0.0:0.0738	.	1115	Q96DT5	DYH11_HUMAN	L	1115	ENSP00000330671:P1115L	ENSP00000330671:P1115L	P	+	2	0	DNAH11	21607241	0.524000	0.26282	1.000000	0.80357	0.997000	0.91878	1.687000	0.37680	1.320000	0.45209	0.655000	0.94253	CCT		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		32	21	0	0	0	1	0	32	21				
GPRC5A	9052	broad.mit.edu	37	12	13061788	13061788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:13061788C>T	ENST00000014914.5	+	2	1495	c.605C>T	c.(604-606)tCc>tTc	p.S202F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	202					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTGTGGTTCCTTCACGGGC	0.567																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(604-606)tCc>tTc		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						245.0	218.0	227.0					12																	13061788		2203	4300	6503	SO:0001583	missense	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061788C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.605C>T	12.37:g.13061788C>T	ENSP00000014914:p.Ser202Phe					GPRC5A_ENST00000542056.1_Intron	p.S202F	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1495	+		Prostate(47;0.141)	202					B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.605C>T	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222173	0.79464	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.88201	-2.35;-2.35	5.42	5.42	0.78866	GPCR, family 3, C-terminal (1);	0.522701	0.19920	N	0.103104	D	0.93106	0.7805	M	0.62723	1.935	0.41194	D	0.986324	D;D	0.61080	0.989;0.989	P;P	0.61070	0.837;0.883	D	0.93469	0.6817	10	0.66056	D	0.02	-4.8131	19.2837	0.94061	0.0:1.0:0.0:0.0	.	202;202	Q8NFJ5;A8K556	RAI3_HUMAN;.	F	202	ENSP00000014914:S202F;ENSP00000441627:S202F	ENSP00000014914:S202F	S	+	2	0	GPRC5A	12953055	0.002000	0.14202	0.883000	0.34634	0.780000	0.44128	1.736000	0.38187	2.572000	0.86782	0.556000	0.70494	TCC		0.567	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			66	107	0	0	0	1	0	66	107				
DPY19L2P2	349152	broad.mit.edu	37	7	102898139	102898139	+	RNA	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:102898139C>T	ENST00000312132.4	-	0	2433							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCACTATTCCCATGAATGTGC	0.328																																						ENST00000312132.4																			0																																																			349152							g.chr7:102898139C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102898139C>T														0	2433	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.328	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		46	55	0	0	0	1	0	46	55				
PCBP3	54039	broad.mit.edu	37	21	47349871	47349871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr21:47349871C>T	ENST00000400314.1	+	12	1096	c.758C>T	c.(757-759)cCc>cTc	p.P253L	PCBP3_ENST00000400308.1_Missense_Mutation_p.P227L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Missense_Mutation_p.P243L|PCBP3_ENST00000400310.1_Missense_Mutation_p.P253L|PCBP3_ENST00000449640.1_Missense_Mutation_p.P253L|PCBP3_ENST00000400309.1_Missense_Mutation_p.P252L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	253					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGCAAACCCCCTTTCCTCCC	0.552																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(757-759)cCc>cTc		poly(rC) binding protein 3							144.0	161.0	156.0					21																	47349871		2044	4212	6256	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47349871C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.758C>T	21.37:g.47349871C>T	ENSP00000383168:p.Pro253Leu					PCBP3_ENST00000400309.1_Missense_Mutation_p.P252L|PCBP3_ENST00000400304.1_Missense_Mutation_p.P243L|PCBP3_ENST00000400310.1_Missense_Mutation_p.P253L|PCBP3_ENST00000449640.1_Missense_Mutation_p.P253L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.P227L|PCBP3_ENST00000468429.1_3'UTR	p.P253L			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	12	1096	+	all_hematologic(128;0.24)		253					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.758C>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223506	0.58668	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.51325	1.28;1.27;1.35;1.32;1.28;1.74;0.71	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.56199	1.76	0.80722	D	1	B;D;D;B;D;B	0.89917	0.029;1.0;1.0;0.008;1.0;0.002	B;D;D;B;D;B	0.91635	0.012;0.999;0.999;0.033;0.988;0.007	T	0.63532	-0.6616	10	0.41790	T	0.15	-10.7073	19.0678	0.93119	0.0:1.0:0.0:0.0	.	228;243;227;252;253;253	P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;PCBP3_HUMAN;.	L	253;253;252;227;253;253;204;243	ENSP00000383168:P253L;ENSP00000383165:P253L;ENSP00000383164:P252L;ENSP00000383163:P227L;ENSP00000401198:P253L;ENSP00000383160:P204L;ENSP00000383159:P243L	ENSP00000330225:P253L	P	+	2	0	PCBP3	46174299	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.364000	0.79526	2.499000	0.84300	0.561000	0.74099	CCC		0.552	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			66	23	0	0	0	1	0	66	23				
FRMPD2	143162	broad.mit.edu	37	10	49431286	49431286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:49431286T>A	ENST00000374201.3	-	11	1498	c.1196A>T	c.(1195-1197)gAa>gTa	p.E399V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.E375V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.E368V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	399	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAATCTGGTTTCACTGTCCAG	0.458																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(1195-1197)gAa>gTa		FERM and PDZ domain containing 2							81.0	75.0	77.0					10																	49431286		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49431286T>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1196A>T	10.37:g.49431286T>A	ENSP00000363317:p.Glu399Val					FRMPD2_ENST00000407470.4_Missense_Mutation_p.E368V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E375V	p.E399V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	11	1498	-			399			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1196A>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562999	0.86335	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.78126	-1.15;-1.15;-1.15	5.41	5.41	0.78517	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.86834	0.6028	M	0.79258	2.445	0.39567	D	0.969228	D;D;D	0.61697	0.98;0.99;0.98	P;D;P	0.67725	0.773;0.953;0.773	D	0.88745	0.3246	9	0.59425	D	0.04	.	13.3848	0.60789	0.0:0.0:0.0:1.0	.	375;399;368	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	V	399;375;368	ENSP00000363317:E399V;ENSP00000307079:E375V;ENSP00000384339:E368V	ENSP00000307079:E375V	E	-	2	0	FRMPD2	49101292	1.000000	0.71417	0.094000	0.20943	0.961000	0.63080	6.598000	0.74122	2.059000	0.61396	0.459000	0.35465	GAA		0.458	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		30	28	0	0	0	1	0	30	28				
TMEM194A	23306	broad.mit.edu	37	12	57464648	57464648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:57464648C>T	ENST00000300128.4	-	3	304	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Missense_Mutation_p.R94Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	94						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGGTGACTCGAACCAATCT	0.343																																						ENST00000300128.4																			0				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(280-282)cGa>cAa		transmembrane protein 194A							65.0	61.0	63.0					12																	57464648		2203	4300	6503	SO:0001583	missense	23306					integral to membrane		g.chr12:57464648C>T	AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.281G>A	12.37:g.57464648C>T	ENSP00000300128:p.Arg94Gln					TMEM194A_ENST00000379391.3_Missense_Mutation_p.R94Q|TMEM194A_ENST00000553654.1_5'UTR	p.R94Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN			3	304	-			94					Q17R72|Q68DH0|Q6IQ25	Missense_Mutation	SNP	ENST00000300128.4	37	c.281G>A	CCDS44927.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602609	0.46423	.	.	ENSG00000166881	ENST00000379391;ENST00000300128	T;T	0.50001	0.76;0.92	5.56	1.77	0.24775	.	0.287775	0.30528	N	0.009435	T	0.37972	0.1023	L	0.56769	1.78	0.30436	N	0.776629	B;B	0.25007	0.111;0.116	B;B	0.15052	0.012;0.012	T	0.29640	-1.0005	10	0.30854	T	0.27	-0.0659	8.343	0.32254	0.0:0.6758:0.0:0.3242	.	94;94	O14524;O14524-2	T194A_HUMAN;.	Q	94	ENSP00000368701:R94Q;ENSP00000300128:R94Q	ENSP00000300128:R94Q	R	-	2	0	TMEM194A	55750915	0.811000	0.29063	0.982000	0.44146	0.744000	0.42396	0.999000	0.29757	0.163000	0.19507	0.655000	0.94253	CGA		0.343	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411272.1	NM_015257		17	34	0	0	0	1	0	17	34				
ZNF683	257101	broad.mit.edu	37	1	26691179	26691179	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:26691179C>T	ENST00000436292.1	-	4	978	c.858G>A	c.(856-858)ctG>ctA	p.L286L	ZNF683_ENST00000349618.3_Silent_p.L286L|ZNF683_ENST00000403843.1_Silent_p.L286L|ZNF683_ENST00000374204.1_Silent_p.L286L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	286					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CACCACGCTCCAGGCCTGGGG	0.612																																						ENST00000436292.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(856-858)ctG>ctA		zinc finger protein 683							67.0	70.0	69.0					1																	26691179		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691179C>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.858G>A	1.37:g.26691179C>T						ZNF683_ENST00000349618.3_Silent_p.L286L|ZNF683_ENST00000374204.1_Silent_p.L286L|ZNF683_ENST00000403843.1_Silent_p.L286L	p.L286L			Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	978	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	286					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.858G>A																																																																																					0.612	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		20	67	0	0	0	1	0	20	67				
EIF3L	51386	broad.mit.edu	37	22	38251636	38251636	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:38251636C>T	ENST00000412331.2	+	4	940	c.358C>T	c.(358-360)Cca>Tca	p.P120S	EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Missense_Mutation_p.P120S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCCATTGCTCCACAGGTTGG	0.443																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(358-360)Cca>Tca		eukaryotic translation initiation factor 3, subunit L							60.0	56.0	58.0					22																	38251636		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38251636C>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.358C>T	22.37:g.38251636C>T	ENSP00000416892:p.Pro120Ser					EIF3L_ENST00000381683.6_Missense_Mutation_p.P120S|EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron	p.P120S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			4	940	+			120						Missense_Mutation	SNP	ENST00000412331.2	37	c.358C>T	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084506	0.36758	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000262832;ENST00000451427	T;T	0.43294	1.0;0.95	4.86	4.86	0.63082	.	0.106561	0.64402	D	0.000003	T	0.36771	0.0979	L	0.42008	1.315	0.48185	D	0.999607	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.17623	-1.0363	10	0.15499	T	0.54	-9.3313	18.3573	0.90362	0.0:1.0:0.0:0.0	.	120;120;163	B4DYB2;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	S	120;163;137;120;120;96	ENSP00000416892:P120S;ENSP00000371099:P120S	ENSP00000262832:P120S	P	+	1	0	EIF3L	36581582	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	3.464000	0.53057	2.392000	0.81423	0.561000	0.74099	CCA		0.443	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		13	19	0	0	0	1	0	13	19				
TRAV9-1	28678	broad.mit.edu	37	14	22280042	22280042	+	RNA	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:22280042G>A	ENST00000390431.3	+	0	231									T cell receptor alpha variable 9-1																		ACAAGGGAAGGAACAAAGGTT	0.463																																						ENST00000390431.3																			0																				92.0	84.0	86.0					14																	22280042		1936	4143	6079			28678							g.chr14:22280042G>A	AE000659		14q11.2	2012-02-07			ENSG00000211783	ENSG00000211783		"""T cell receptors / TRA locus"""	12153	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168987		14.37:g.22280042G>A														0	231	+									RNA	SNP	ENST00000390431.3	37																																																																																						0.463	TRAV9-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401885.1	NG_001332		16	22	0	0	0	1	0	16	22				
GABRB3	2562	broad.mit.edu	37	15	27017885	27017885	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:27017885C>T	ENST00000311550.5	-	2	226	c.115G>A	c.(115-117)Gag>Aag	p.E39K	GABRB3_ENST00000541819.2_Missense_Mutation_p.E95K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E39K|GABRB3_ENST00000557641.1_5'UTR	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	39					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCACCGTCTCCTTCACAAAG	0.662																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(283-285)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						54.0	48.0	50.0					15																	27017885		2202	4300	6502	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:27017885C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.115G>A	15.37:g.27017885C>T	ENSP00000308725:p.Glu39Lys					GABRB3_ENST00000311550.5_Missense_Mutation_p.E39K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E39K|GABRB3_ENST00000557641.1_5'UTR	p.E95K			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	3	385	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	39					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.283G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002631	0.74932	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267	T;T;T	0.78707	-1.2;-1.2;-1.2	4.09	4.09	0.47781	Neurotransmitter-gated ion-channel ligand-binding (2);	0.112590	0.64402	D	0.000014	T	0.69450	0.3112	L	0.41824	1.3	0.80722	D	1	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.17979	0.02;0.003;0.008	T	0.64774	-0.6328	10	0.22706	T	0.39	.	15.2874	0.73838	0.0:1.0:0.0:0.0	.	95;39;39	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	K	39;95;39	ENSP00000308725:E39K;ENSP00000442408:E95K;ENSP00000299267:E39K	ENSP00000299267:E39K	E	-	1	0	GABRB3	24568978	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.847000	0.62867	1.799000	0.52666	0.313000	0.20887	GAG		0.662	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			5	13	0	0	0	1	0	5	13				
SPTAN1	6709	broad.mit.edu	37	9	131362396	131362396	+	Splice_Site	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr9:131362396T>G	ENST00000372731.4	+	27	3689		c.e27+2		SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372739.3_Splice_Site	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1						actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGTGGAAGGTAAGAACTCCT	0.403																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.e27+2		spectrin, alpha, non-erythrocytic 1							116.0	109.0	111.0					9																	131362396		2203	4300	6503	SO:0001630	splice_region_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131362396T>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3579+2T>G	9.37:g.131362396T>G						SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site		NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			27	3689	+								Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Splice_Site	SNP	ENST00000372731.4	37		CCDS6905.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145472	0.77888	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTAN1	130402217	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.386000	0.79775	2.333000	0.79357	0.533000	0.62120	.		0.403	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	Intron	37	14	0	0	0	1	0	37	14				
VRTN	55237	broad.mit.edu	37	14	74825106	74825106	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74825106C>T	ENST00000256362.4	+	2	1861	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	540					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CACCTTCTGCCTTTTGGGTCT	0.662																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1618-1620)gcC>gcT		vertebrae development associated							74.0	77.0	76.0					14																	74825106		2203	4300	6503	SO:0001819	synonymous_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825106C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1620C>T	14.37:g.74825106C>T							p.A540A	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1861	+			540					Q9NVC7	Silent	SNP	ENST00000256362.4	37	c.1620C>T	CCDS9830.1																																																																																				0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		40	79	0	0	0	1	0	40	79				
TDP1	55775	broad.mit.edu	37	14	90485694	90485694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:90485694G>A	ENST00000335725.4	+	15	1826	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	TDP1_ENST00000357382.3_Missense_Mutation_p.E287K|TDP1_ENST00000393452.3_Missense_Mutation_p.E526K|TDP1_ENST00000555880.1_Missense_Mutation_p.E526K|TDP1_ENST00000393454.2_Missense_Mutation_p.E526K	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	526					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GGGAGCATTGGAGAAGAATGG	0.542								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1576-1578)Gag>Aag	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							104.0	91.0	96.0					14																	90485694		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90485694G>A	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1576G>A	14.37:g.90485694G>A	ENSP00000337353:p.Glu526Lys					TDP1_ENST00000357382.3_Missense_Mutation_p.E287K|TDP1_ENST00000393452.3_Missense_Mutation_p.E526K|TDP1_ENST00000393454.2_Missense_Mutation_p.E526K|TDP1_ENST00000555880.1_Missense_Mutation_p.E526K	p.E526K	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	15	1826	+		all_cancers(154;0.185)	526					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1576G>A	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418310|4.418310	0.83449|0.83449	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880|ENST00000556063	T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72391|0.72391	0.3454|0.3454	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.998;0.999;0.998|.	P;D;D;D;D|.	0.68039|.	0.874;0.955;0.923;0.939;0.923|.	T|T	0.71839|0.71839	-0.4471|-0.4471	10|5	0.10111|.	T|.	0.7|.	-13.7191|-13.7191	17.1057|17.1057	0.86662|0.86662	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	526;526;526;287;526|.	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8|.	.;.;.;.;TYDP1_HUMAN|.	K|E	526;526;526;287;526|166	ENSP00000377098:E526K;ENSP00000377099:E526K;ENSP00000337353:E526K;ENSP00000349952:E287K;ENSP00000450628:E526K|.	ENSP00000337353:E526K|.	E|G	+|+	1|2	0|0	TDP1|TDP1	89555447|89555447	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.685000|0.685000	0.39939|0.39939	8.528000|8.528000	0.90598|0.90598	2.320000|2.320000	0.78422|0.78422	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.542	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		11	28	0	0	0	1	0	11	28				
HIST1H4E	8367	broad.mit.edu	37	6	26205038	26205038	+	Missense_Mutation	SNP	C	C	T	rs572454026		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:26205038C>T	ENST00000360441.4	+	1	181	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	56					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CGAGGAGACTCGCGGGGTTCT	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17077	0.0		0.0	False		,,,				2504	0.001					ENST00000360441.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(166-168)Cgc>Tgc		histone cluster 1, H4e							110.0	104.0	106.0					6																	26205038		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205038C>T	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.166C>T	6.37:g.26205038C>T	ENSP00000353624:p.Arg56Cys						p.R56C	NM_003545.3	NP_003536.1	P62805	H4_HUMAN			1	181	+		all_hematologic(11;0.196)	56					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.166C>T	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	15.96	2.986980	0.53934	.	.	ENSG00000198518	ENST00000360441	T	0.68903	-0.36	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68109	0.2965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74182	-0.3748	7	0.87932	D	0	.	12.403	0.55424	0.0:1.0:0.0:0.0	.	.	.	.	C	56	ENSP00000353624:R56C	ENSP00000353624:R56C	R	+	1	0	HIST1H4E	26313017	1.000000	0.71417	0.867000	0.34043	0.017000	0.09413	4.492000	0.60334	1.521000	0.48983	0.655000	0.94253	CGC		0.557	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		34	39	0	0	0	1	0	34	39				
ZNF80	7634	broad.mit.edu	37	3	113955834	113955834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:113955834G>A	ENST00000482457.2	-	1	591	c.88C>T	c.(88-90)Cat>Tat	p.H30Y	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCACATTCATGGAGATTGTCT	0.502																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(88-90)Cat>Tat		zinc finger protein 80							118.0	113.0	115.0					3																	113955834		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955834G>A	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.88C>T	3.37:g.113955834G>A	ENSP00000417192:p.His30Tyr						p.H30Y	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	591	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	30					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.88C>T	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.718596	0.00700	.	.	ENSG00000174255	ENST00000482457	T	0.24151	1.87	2.45	2.45	0.29901	.	.	.	.	.	T	0.09202	0.0227	N	0.03000	-0.44	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.18524	-1.0334	9	0.02654	T	1	.	11.0413	0.47833	0.0:0.0:1.0:0.0	.	30	P51504	ZNF80_HUMAN	Y	30	ENSP00000417192:H30Y	ENSP00000309812:H30Y	H	-	1	0	ZNF80	115438524	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	0.151000	0.16283	1.689000	0.51079	0.655000	0.94253	CAT		0.502	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		29	52	0	0	0	1	0	29	52				
UGT2B7	7364	broad.mit.edu	37	4	69962911	69962911	+	Missense_Mutation	SNP	G	G	A	rs146308452	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:69962911G>A	ENST00000508661.1	+	1	700	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E225K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	225					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.E225K(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTTTTGGTTCGAAATATTTGA	0.318																																						ENST00000305231.7																			1	Substitution - Missense(1)	p.E225K(1)	skin(1)	autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(673-675)Gaa>Aaa		UDP glucuronosyltransferase 2 family, polypeptide B7		G	LYS/GLU	0,4406		0,0,2203	88.0	89.0	88.0		673	-2.6	0.0	4	dbSNP_134	88	11,8587	7.7+/-29.5	0,11,4288	no	missense	UGT2B7	NM_001074.2	56	0,11,6491	AA,AG,GG		0.1279,0.0,0.0846	benign	225/530	69962911	11,12993	2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962911G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.673G>A	4.37:g.69962911G>A	ENSP00000427659:p.Glu225Lys					UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K	p.E225K	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			1	719	+			225					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.673G>A		.	.	.	.	.	.	.	.	.	.	G	7.525	0.657422	0.14645	0.0	0.001279	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.59502	0.26;0.26	2.54	-2.61	0.06171	.	2.405150	0.03211	U	0.176220	T	0.37571	0.1008	N	0.16201	0.385	0.09310	N	1	B;B	0.23316	0.083;0.02	B;B	0.20184	0.027;0.028	T	0.12941	-1.0528	9	.	.	.	.	7.2528	0.26158	0.1772:0.2937:0.529:0.0	.	225;225	E9PBP8;P16662	.;UD2B7_HUMAN	K	225	ENSP00000304811:E225K;ENSP00000427659:E225K	.	E	+	1	0	UGT2B7	69997500	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.436000	0.06922	-0.976000	0.03542	-0.689000	0.03729	GAA		0.318	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		17	46	0	0	0	1	0	17	46				
PTPRF	5792	broad.mit.edu	37	1	44069771	44069771	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:44069771C>T	ENST00000359947.4	+	16	3288	c.2948C>T	c.(2947-2949)aCt>aTt	p.T983I	PTPRF_ENST00000438120.1_Missense_Mutation_p.T974I|PTPRF_ENST00000372413.3_Missense_Mutation_p.T974I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.T331I|PTPRF_ENST00000372414.3_Missense_Mutation_p.T983I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	983	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGACACCACTTACGACATC	0.587																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2947-2949)aCt>aTt		protein tyrosine phosphatase, receptor type, F							146.0	118.0	127.0					1																	44069771		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069771C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2948C>T	1.37:g.44069771C>T	ENSP00000353030:p.Thr983Ile					PTPRF_ENST00000372414.3_Missense_Mutation_p.T983I|PTPRF_ENST00000372413.3_Missense_Mutation_p.T974I|PTPRF_ENST00000422171.2_Missense_Mutation_p.T331I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.T974I	p.T983I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			16	3288	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	983			Fibronectin type-III 7.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2948C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.90|17.90	3.502476|3.502476	0.64298|0.64298	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.58210	.|0.35;0.35;0.35;0.35;0.35	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.35320	.|N	.|0.003299	T|T	0.74313|0.74313	0.3700|0.3700	M|M	0.79614|0.79614	2.46|2.46	0.80722|0.80722	D|D	1|1	.|P;P;D;D	.|0.89917	.|0.815;0.9;0.994;1.0	.|P;P;P;D	.|0.83275	.|0.598;0.551;0.827;0.996	T|T	0.76841|0.76841	-0.2810|-0.2810	5|10	.|0.56958	.|D	.|0.05	.|.	18.8004|18.8004	0.92015|0.92015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|628;331;974;983	.|Q59FI2;F2Z3B8;P10586-2;P10586	.|.;.;.;PTPRF_HUMAN	F|I	629|983;974;983;974;331	.|ENSP00000353030:T983I;ENSP00000398822:T974I;ENSP00000361491:T983I;ENSP00000361490:T974I;ENSP00000387885:T331I	.|ENSP00000353030:T983I	L|T	+|+	1|2	0|0	PTPRF|PTPRF	43842358|43842358	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.620000|0.620000	0.37586|0.37586	6.007000|6.007000	0.70731|0.70731	2.499000|2.499000	0.84300|0.84300	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.587	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			17	66	0	0	0	1	0	17	66				
ZNF521	25925	broad.mit.edu	37	18	22806772	22806772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:22806772C>T	ENST00000361524.3	-	4	1258	c.1110G>A	c.(1108-1110)atG>atA	p.M370I	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.M370I|ZNF521_ENST00000584787.1_Missense_Mutation_p.M150I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	370					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)					CAGCTTCCACCATGGTTGAGC	0.552			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.(1108-1110)atG>atA		zinc finger protein 521							64.0	63.0	63.0					18																	22806772		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.chr18:22806772C>T	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.1110G>A	18.37:g.22806772C>T	ENSP00000354794:p.Met370Ile					ZNF521_ENST00000584787.1_Missense_Mutation_p.M150I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M370I	p.M370I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1258	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		370					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1110G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497806	0.26861	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07908	3.15;3.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	N	0.08118	0	0.39468	D	0.96768	P	0.38395	0.629	B	0.41036	0.346	T	0.44034	-0.9354	10	0.48119	T	0.1	-36.8257	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	370	Q96K83	ZN521_HUMAN	I	370;404;370	ENSP00000354794:M370I;ENSP00000382352:M370I	ENSP00000354794:M370I	M	-	3	0	ZNF521	21060770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.697000	0.68295	2.941000	0.99782	0.655000	0.94253	ATG		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		16	46	0	0	0	1	0	16	46				
GANC	2595	broad.mit.edu	37	15	42635341	42635341	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:42635341G>A	ENST00000318010.8	+	19	2458	c.2218G>A	c.(2218-2220)Gga>Aga	p.G740R		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	740					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GTTTCTTCCAGGATCAAATGA	0.373																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2218-2220)Gga>Aga		glucosidase, alpha; neutral C							137.0	120.0	126.0					15																	42635341		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42635341G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2218G>A	15.37:g.42635341G>A	ENSP00000326227:p.Gly740Arg						p.G740R	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	19	2458	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	740					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.2218G>A	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337673	0.81911	.	.	ENSG00000214013	ENST00000318010	D	0.83335	-1.71	5.19	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	L	0.49699	1.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88905	0.3355	10	0.87932	D	0	-7.367	13.6527	0.62320	0.0745:0.0:0.9255:0.0	.	740	Q8TET4	GANC_HUMAN	R	740	ENSP00000326227:G740R	ENSP00000326227:G740R	G	+	1	0	GANC	40422633	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.615000	0.83006	1.194000	0.43101	0.655000	0.94253	GGA		0.373	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		11	25	0	0	0	1	0	11	25				
FABP4	2167	broad.mit.edu	37	8	82395376	82395376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:82395376C>T	ENST00000256104.4	-	1	122	c.27G>A	c.(25-27)tgG>tgA	p.W9*	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	9					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			AGACAAGTTTCCAGGTACCTA	0.378																																					NSCLC(35;550 1252 19644 48360)	ENST00000256104.4																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6						c.(25-27)tgG>tgA		fatty acid binding protein 4, adipocyte							97.0	93.0	95.0					8																	82395376		2203	4300	6503	SO:0001587	stop_gained	2167				triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity	g.chr8:82395376C>T	J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"""Fatty acid binding protein family"""	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.27G>A	8.37:g.82395376C>T	ENSP00000256104:p.Trp9*					RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	p.W9*	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	Epithelial(68;0.213)		1	122	-			9					Q6IBA1	Nonsense_Mutation	SNP	ENST00000256104.4	37	c.27G>A	CCDS6230.1	.	.	.	.	.	.	.	.	.	.	C	38	7.063736	0.98036	.	.	ENSG00000170323	ENST00000256104	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	9	.	ENSP00000256104:W9X	W	-	3	0	FABP4	82557931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.768000	0.95171	0.655000	0.94253	TGG		0.378	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379368.1	NM_001442		8	21	0	0	0	1	0	8	21				
MAST4	375449	broad.mit.edu	37	5	66461411	66461411	+	Missense_Mutation	SNP	C	C	T	rs564769167		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:66461411C>T	ENST00000403625.2	+	29	6699	c.6404C>T	c.(6403-6405)cCg>cTg	p.P2135L	MAST4_ENST00000404260.3_Missense_Mutation_p.P2138L|MAST4_ENST00000261569.7_Missense_Mutation_p.P1941L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2138	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATCCCTCCGCCCCCTCTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		16140	0.0		0.0	False		,,,				2504	0.001					ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(6412-6414)cCg>cTg		microtubule associated serine/threonine kinase family member 4							29.0	39.0	36.0					5																	66461411		2076	4189	6265	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461411C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6404C>T	5.37:g.66461411C>T	ENSP00000385727:p.Pro2135Leu					MAST4_ENST00000261569.7_Missense_Mutation_p.P1941L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946L	p.P2138L			O15021	MAST4_HUMAN		Lung(70;0.011)	29	6721	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2138			Pro-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6413C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	1.621	-0.521505	0.04171	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.65364	-0.13;-0.13;-0.15;-0.15;-0.13	5.2	4.05	0.47172	.	1.072830	0.07211	N	0.859279	T	0.42494	0.1205	N	0.14661	0.345	0.27241	N	0.959151	P;P	0.40250	0.585;0.709	B;B	0.28465	0.041;0.09	T	0.24870	-1.0148	10	0.44086	T	0.13	-8.7172	10.9973	0.47585	0.8356:0.1644:0.0:0.0	.	2138;1946	O15021;O15021-3	MAST4_HUMAN;.	L	2138;2135;1946;1956;1956;1941	ENSP00000385048:P2138L;ENSP00000385727:P2135L;ENSP00000384313:P1946L;ENSP00000384099:P1956L;ENSP00000261569:P1941L	ENSP00000261569:P1941L	P	+	2	0	MAST4	66497167	0.202000	0.23423	0.681000	0.30009	0.004000	0.04260	0.318000	0.19504	0.998000	0.38996	-0.262000	0.10625	CCG		0.602	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			6	17	0	0	0	1	0	6	17				
SSX1	6756	broad.mit.edu	37	X	48116746	48116746	+	Splice_Site	SNP	G	G	A	rs139158089		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:48116746G>A	ENST00000376919.3	+	2	205		c.e2+1			NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAGAAGCAAGGTGACGTGACC	0.567			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.e2+1		synovial sarcoma, X breakpoint 1		G		0,3835		0,0,1632,571	86.0	66.0	73.0			1.8	0.0	X	dbSNP_134	73	1,6726		0,1,2427,1871	no	splice-5	SSX1	NM_005635.2		0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095			48116746	1,10561	2203	4299	6502	SO:0001630	splice_region_variant	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48116746G>A	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.69+1G>A	X.37:g.48116746G>A								NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			2	205	+								A3KN76|Q08AJ2|Q5JQ64	Splice_Site	SNP	ENST00000376919.3	37		CCDS14290.1	.	.	.	.	.	.	.	.	.	.	g	5.119	0.207662	0.09704	0.0	1.49E-4	ENSG00000126752	ENST00000376919	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.26886	N	0.96744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5537	0.22448	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSX1	48001690	1.000000	0.71417	0.044000	0.18714	0.007000	0.05969	2.081000	0.41596	1.212000	0.43366	0.171000	0.16805	.		0.567	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635	Intron	14	22	0	0	0	1	0	14	22				
TRPM7	54822	broad.mit.edu	37	15	50923674	50923674	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:50923674G>A	ENST00000313478.7	-	10	1425	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H382Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	382					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCCAATATGGAAAACAGTG	0.289																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1144-1146)Cat>Tat		transient receptor potential cation channel, subfamily M, member 7							62.0	58.0	59.0					15																	50923674		1793	4053	5846	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50923674G>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1144C>T	15.37:g.50923674G>A	ENSP00000320239:p.His382Tyr					TRPM7_ENST00000560955.1_Missense_Mutation_p.H382Y	p.H382Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	10	1425	-			382					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.1144C>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945470	0.53079	.	.	ENSG00000092439	ENST00000313478	T	0.25085	1.82	4.88	4.88	0.63580	.	0.154603	0.64402	D	0.000018	T	0.26159	0.0638	L	0.47716	1.5	0.47123	D	0.999323	B	0.28933	0.228	B	0.22152	0.038	T	0.08126	-1.0737	10	0.72032	D	0.01	-6.0353	17.8102	0.88613	0.0:0.0:1.0:0.0	.	382	Q96QT4	TRPM7_HUMAN	Y	382	ENSP00000320239:H382Y	ENSP00000320239:H382Y	H	-	1	0	TRPM7	48710966	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.255000	0.65462	2.536000	0.85505	0.585000	0.79938	CAT		0.289	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		11	42	0	0	0	1	0	11	42				
NFATC1	4772	broad.mit.edu	37	18	77170749	77170749	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr18:77170749T>A	ENST00000427363.2	+	2	474	c.474T>A	c.(472-474)agT>agA	p.S158R	NFATC1_ENST00000329101.4_Missense_Mutation_p.S145R|NFATC1_ENST00000591814.1_Missense_Mutation_p.S158R|NFATC1_ENST00000253506.5_Missense_Mutation_p.S158R|NFATC1_ENST00000586434.1_Missense_Mutation_p.S145R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.S145R|NFATC1_ENST00000542384.1_Missense_Mutation_p.S158R|NFATC1_ENST00000592223.1_Missense_Mutation_p.S145R|NFATC1_ENST00000587635.1_Missense_Mutation_p.S158R			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	158	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCACGCTGAGTCTGCCCAGCC	0.627																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(472-474)agT>agA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							36.0	37.0	37.0					18																	77170749		2203	4295	6498	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170749T>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.474T>A	18.37:g.77170749T>A	ENSP00000389377:p.Ser158Arg					NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.S158R|NFATC1_ENST00000427363.2_Missense_Mutation_p.S158R|NFATC1_ENST00000329101.4_Missense_Mutation_p.S145R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S158R|NFATC1_ENST00000592223.1_Missense_Mutation_p.S145R|NFATC1_ENST00000591814.1_Missense_Mutation_p.S158R|NFATC1_ENST00000586434.1_Missense_Mutation_p.S145R|NFATC1_ENST00000318065.5_Missense_Mutation_p.S145R	p.S158R	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	843	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	158			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.474T>A		.	.	.	.	.	.	.	.	.	.	T	10.18	1.280635	0.23392	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78003	-1.14;-1.14;-1.14	4.46	-0.497	0.12023	.	0.528659	0.20198	N	0.097143	T	0.59238	0.2179	N	0.22421	0.69	0.50313	D	0.999868	B;B;B;B;B;B;B	0.33413	0.282;0.282;0.282;0.282;0.282;0.411;0.282	B;B;B;B;B;B;B	0.30029	0.11;0.11;0.07;0.052;0.052;0.052;0.07	T	0.47983	-0.9074	10	0.26408	T	0.33	-2.3153	11.3638	0.49660	0.0:0.5927:0.0:0.4073	.	145;145;158;158;158;145;158	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	R	158;158;158;145;145;122	ENSP00000253506:S158R;ENSP00000442435:S158R;ENSP00000327850:S145R	ENSP00000253506:S158R	S	+	3	2	NFATC1	75271737	0.005000	0.15991	0.183000	0.23137	0.982000	0.71751	-0.040000	0.12104	0.059000	0.16252	-0.337000	0.08149	AGT		0.627	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		18	31	0	0	0	1	0	18	31				
ADORA3	140	broad.mit.edu	37	1	112033366	112033366	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:112033366G>A	ENST00000369716.4	-	2	502	c.369C>T	c.(367-369)ctC>ctT	p.L123L	RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Silent_p.L42L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGCACCCAGGGAGCCCAGGAA	0.448																																						ENST00000369716.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(367-369)ctC>ctT		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						94.0	88.0	90.0					1																	112033366		2203	4300	6503	SO:0001819	synonymous_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112033366G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.369C>T	1.37:g.112033366G>A						ADORA3_ENST00000369717.4_Silent_p.L42L	p.L123L	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	502	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	0					A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000369716.4	37	c.369C>T	CCDS838.1																																																																																				0.448	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		23	21	0	0	0	1	0	23	21				
ITGA9	3680	broad.mit.edu	37	3	37514891	37514891	+	Silent	SNP	C	C	G	rs140343057	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:37514891C>G	ENST00000264741.5	+	3	616	c.360C>G	c.(358-360)cgC>cgG	p.R120R	ITGA9_ENST00000422441.1_Silent_p.R120R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	120					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGGAAGACCGCGATGATGAGT	0.622																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(358-360)cgC>cgG		integrin, alpha 9							61.0	60.0	61.0					3																	37514891		2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37514891C>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.360C>G	3.37:g.37514891C>G						ITGA9_ENST00000422441.1_Silent_p.R120R	p.R120R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	3	616	+			120					Q14638	Silent	SNP	ENST00000264741.5	37	c.360C>G	CCDS2669.1																																																																																				0.622	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		17	40	0	0	0	1	0	17	40				
COL4A5	1287	broad.mit.edu	37	X	107823796	107823796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:107823796C>T	ENST00000361603.2	+	14	1058	c.814C>T	c.(814-816)Cca>Tca	p.P272S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P272S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	272	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCTGGACCTCCAGGGATACG	0.428									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(814-816)Cca>Tca		collagen, type IV, alpha 5							130.0	116.0	121.0					X																	107823796		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107823796C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.814C>T	X.37:g.107823796C>T	ENSP00000354505:p.Pro272Ser					COL4A5_ENST00000361603.2_Missense_Mutation_p.P272S	p.P272S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			14	1058	+			272			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.814C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891354	0.72524	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97665	-4.48;-4.48	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	L	0.45285	1.41	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.53266	0.722;0.722	D	0.96104	0.9071	10	0.36615	T	0.2	.	18.7695	0.91885	0.0:1.0:0.0:0.0	.	272;272	E7EVY4;P29400	.;CO4A5_HUMAN	S	272	ENSP00000331902:P272S;ENSP00000354505:P272S	ENSP00000331902:P272S	P	+	1	0	COL4A5	107710452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.594000	0.54008	2.377000	0.81083	0.600000	0.82982	CCA		0.428	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			47	83	0	0	0	1	0	47	83				
DNAH3	55567	broad.mit.edu	37	16	21011790	21011790	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:21011790G>A	ENST00000261383.3	-	43	6176	c.6177C>T	c.(6175-6177)ttC>ttT	p.F2059F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2059	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)|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)		AGGTTTTCAAGAAGAAGGACT	0.532																																						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.(6175-6177)ttC>ttT		dynein, axonemal, heavy chain 3							156.0	147.0	150.0					16																	21011790		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21011790G>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.6177C>T	16.37:g.21011790G>A						DNAH3_ENST00000415178.1_3'UTR	p.F2059F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	43	6176	-			2059			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6177C>T	CCDS10594.1																																																																																				0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		17	28	0	0	0	1	0	17	28				
NDN	4692	broad.mit.edu	37	15	23932346	23932346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:23932346C>T	ENST00000331837.4	-	1	104	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	7					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)		TCGCTCAGATCCTTACTTTGT	0.647									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.(19-21)Gat>Aat		necdin, melanoma antigen (MAGE) family member							29.0	27.0	28.0					15																	23932346		1747	3464	5211	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.chr15:23932346C>T	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.19G>A	15.37:g.23932346C>T	ENSP00000332643:p.Asp7Asn						p.D7N	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	104	-		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)	7					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.19G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311705	0.60414	.	.	ENSG00000182636	ENST00000331837	T	0.02944	4.1	3.75	1.76	0.24704	.	1.166870	0.06304	N	0.701517	T	0.01800	0.0057	N	0.08118	0	0.29064	N	0.883701	B	0.06786	0.001	B	0.04013	0.001	T	0.47289	-0.9129	10	0.18710	T	0.47	.	5.5937	0.17315	0.0:0.6799:0.2027:0.1174	.	7	Q99608	NECD_HUMAN	N	7	ENSP00000332643:D7N	ENSP00000332643:D7N	D	-	1	0	NDN	21483439	0.082000	0.21442	0.869000	0.34112	0.517000	0.34286	0.054000	0.14205	0.308000	0.22923	0.561000	0.74099	GAT		0.647	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		8	15	0	0	0	1	0	8	15				
ADAMTS14	140766	broad.mit.edu	37	10	72489106	72489106	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:72489106C>T	ENST00000373207.1	+	5	927	c.927C>T	c.(925-927)gtC>gtT	p.V309V	ADAMTS14_ENST00000373208.1_Silent_p.V309V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	309	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGCCCTCGTCCGCTTGATCA	0.493																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(925-927)gtC>gtT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							101.0	94.0	96.0					10																	72489106		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489106C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.927C>T	10.37:g.72489106C>T						ADAMTS14_ENST00000373207.1_Silent_p.V309V	p.V309V	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			5	927	+			309			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.927C>T	CCDS7306.1																																																																																				0.493	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		22	40	0	0	0	1	0	22	40				
OR5M10	390167	broad.mit.edu	37	11	56344919	56344919	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:56344919G>A	ENST00000526812.2	-	1	344	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCCAGCGTAGGAGATGGTCT	0.428																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(277-279)tcC>tcT		olfactory receptor, family 5, subfamily M, member 10							140.0	131.0	134.0					11																	56344919		1936	4144	6080	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344919G>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.279C>T	11.37:g.56344919G>A							p.S93S	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	344	-			93					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.279C>T	CCDS53630.1																																																																																				0.428	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		27	41	0	0	0	1	0	27	41				
LTBP1	4052	broad.mit.edu	37	2	33246016	33246016	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:33246016C>T	ENST00000404816.2	+	3	959	c.606C>T	c.(604-606)ctC>ctT	p.L202L	LTBP1_ENST00000354476.3_Silent_p.L202L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	202	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGATGTGTCTCCGGCCACAAC	0.498																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(604-606)ctC>ctT		latent transforming growth factor beta binding protein 1							192.0	198.0	196.0					2																	33246016		2203	4299	6502	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33246016C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.606C>T	2.37:g.33246016C>T						LTBP1_ENST00000354476.3_Silent_p.L202L	p.L202L			Q14766	LTBP1_HUMAN			3	959	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	202			EGF-like 1.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.606C>T	CCDS33177.2																																																																																				0.498	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		102	171	0	0	0	1	0	102	171				
LATS1	9113	broad.mit.edu	37	6	150005651	150005651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:150005651G>A	ENST00000543571.1	-	4	1121	c.574C>T	c.(574-576)Ccg>Tcg	p.P192S	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.P192S|LATS1_ENST00000253339.5_Missense_Mutation_p.P192S	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCTAGTGGCGGGCCATGCCTC	0.448																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(574-576)Ccg>Tcg		large tumor suppressor kinase 1							75.0	80.0	79.0					6																	150005651		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005651G>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.574C>T	6.37:g.150005651G>A	ENSP00000437550:p.Pro192Ser					LATS1_ENST00000392273.3_Missense_Mutation_p.P192S|LATS1_ENST00000253339.5_Missense_Mutation_p.P192S|LATS1_ENST00000542747.1_5'UTR	p.P192S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1121	-		Ovarian(120;0.0164)	192						Missense_Mutation	SNP	ENST00000543571.1	37	c.574C>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644360	0.14451	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.90900	2.1;2.1;2.1;-2.75	5.14	3.26	0.37387	.	0.261916	0.27016	N	0.021353	T	0.55955	0.1953	N	0.04508	-0.205	0.33961	D	0.645677	B;B;B	0.15141	0.001;0.005;0.012	B;B;B	0.12156	0.001;0.004;0.007	T	0.33727	-0.9857	9	.	.	.	.	2.9364	0.05816	0.1499:0.1467:0.5517:0.1517	.	44;192;192	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	S	192;192;192;138	ENSP00000437550:P192S;ENSP00000253339:P192S;ENSP00000444678:P192S;ENSP00000441265:P138S	.	P	-	1	0	LATS1	150047344	1.000000	0.71417	0.821000	0.32701	0.990000	0.78478	3.459000	0.53021	0.486000	0.27676	0.557000	0.71058	CCG		0.448	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		31	17	0	0	0	1	0	31	17				
LEPR	3953	broad.mit.edu	37	1	66036244	66036244	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:66036244C>T	ENST00000349533.6	+	4	314	c.129C>T	c.(127-129)acC>acT	p.T43T	LEPR_ENST00000371059.3_Silent_p.T43T|LEPR_ENST00000371060.3_Silent_p.T43T|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Silent_p.T43T|LEPR_ENST00000371058.1_Silent_p.T43T|LEPR_ENST00000406510.3_5'UTR|snoU13_ENST00000459362.1_RNA	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)		CAAATTCAACCTATGACTACT	0.353																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(127-129)acC>acT		leptin receptor							115.0	114.0	114.0					1																	66036244		2203	4300	6503	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036244C>T	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.129C>T	1.37:g.66036244C>T						LEPR_ENST00000371059.3_Silent_p.T43T|LEPR_ENST00000371060.3_Silent_p.T43T|LEPR_ENST00000371058.1_Silent_p.T43T|LEPR_ENST00000344610.8_Silent_p.T43T|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR	p.T43T	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)	4	314	+			43					Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.129C>T	CCDS631.1																																																																																				0.353	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		19	66	0	0	0	1	0	19	66				
ZNF318	24149	broad.mit.edu	37	6	43316087	43316087	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:43316087G>A	ENST00000361428.2	-	6	3124	c.3047C>T	c.(3046-3048)tCg>tTg	p.S1016L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S1016L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1016					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTTGAGAACGATGACACTTT	0.378																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3046-3048)tCg>tTg		zinc finger protein 318							215.0	220.0	218.0					6																	43316087		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43316087G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3047C>T	6.37:g.43316087G>A	ENSP00000354964:p.Ser1016Leu					ZNF318_ENST00000318149.3_Missense_Mutation_p.S1016L	p.S1016L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		6	3124	-			1016					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.3047C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090313	0.36855	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.35421	1.31;2.59	5.26	4.39	0.52855	.	0.500964	0.22182	N	0.063484	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.12156	0.007	T	0.14952	-1.0454	10	0.66056	D	0.02	-2.1607	9.6983	0.40171	0.0927:0.0:0.9073:0.0	.	1016	Q5VUA4	ZN318_HUMAN	L	1016	ENSP00000323032:S1016L;ENSP00000354964:S1016L	ENSP00000323032:S1016L	S	-	2	0	ZNF318	43424065	0.031000	0.19500	0.019000	0.16419	0.067000	0.16453	2.229000	0.42990	1.465000	0.48006	-0.140000	0.14226	TCG		0.378	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		66	78	0	0	0	1	0	66	78				
BPIFA1	51297	broad.mit.edu	37	20	31829252	31829252	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:31829252C>T	ENST00000354297.4	+	6	714	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L	BPIFA1_ENST00000375413.4_Silent_p.L215L|BPIFA1_ENST00000375422.2_Silent_p.L215L	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	215					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GAATAAAGTCCTGCCTGAGTT	0.512																																						ENST00000354297.4																			0											c.(643-645)Ctg>Ttg		BPI fold containing family A, member 1							195.0	188.0	190.0					20																	31829252		2203	4300	6503	SO:0001819	synonymous_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31829252C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.643C>T	20.37:g.31829252C>T						BPIFA1_ENST00000375413.4_Silent_p.L215L|BPIFA1_ENST00000375422.2_Silent_p.L215L	p.L215L	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			6	714	+			215					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.643C>T	CCDS13217.1																																																																																				0.512	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		87	129	0	0	0	1	0	87	129				
HCFC1	3054	broad.mit.edu	37	X	153228799	153228799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228799G>A	ENST00000310441.7	-	4	1555	c.589C>T	c.(589-591)Cca>Tca	p.P197S	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197S|HCFC1_ENST00000354233.3_Missense_Mutation_p.P197S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	197					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGGTGGTGGTAGGACCCCG	0.537																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(589-591)Cca>Tca		host cell factor C1 (VP16-accessory protein)							94.0	94.0	94.0					X																	153228799		1978	4136	6114	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228799G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.589C>T	X.37:g.153228799G>A	ENSP00000309555:p.Pro197Ser					HCFC1_ENST00000354233.3_Missense_Mutation_p.P197S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197S	p.P197S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			4	1555	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		197					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.589C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067390	0.76301	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.64991	-0.13;-0.13;-0.13	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90011	0.4121	10	0.87932	D	0	.	16.9011	0.86114	0.0:0.0:1.0:0.0	.	197	P51610	HCFC1_HUMAN	S	197	ENSP00000309555:P197S;ENSP00000359001:P197S;ENSP00000346174:P197S	ENSP00000309555:P197S	P	-	1	0	HCFC1	152881993	1.000000	0.71417	0.998000	0.56505	0.380000	0.30137	9.499000	0.97975	2.339000	0.79563	0.529000	0.55759	CCA		0.537	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		45	77	0	0	0	1	0	45	77				
DAG1	1605	broad.mit.edu	37	3	49569013	49569013	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:49569013C>T	ENST00000539901.1	+	3	1627	c.1069C>T	c.(1069-1071)Cca>Tca	p.P357S	DAG1_ENST00000545947.1_Missense_Mutation_p.P357S|DAG1_ENST00000308775.2_Missense_Mutation_p.P357S|DAG1_ENST00000515359.2_Missense_Mutation_p.P357S|DAG1_ENST00000538711.1_Missense_Mutation_p.P357S|DAG1_ENST00000541308.1_Missense_Mutation_p.P357S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	357	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGGCTCCTCCAGTCAGGGA	0.612																																						ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1069-1071)Cca>Tca		dystroglycan 1 (dystrophin-associated glycoprotein 1)							85.0	86.0	86.0					3																	49569013		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569013C>T	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1069C>T	3.37:g.49569013C>T	ENSP00000439334:p.Pro357Ser					DAG1_ENST00000308775.2_Missense_Mutation_p.P357S|DAG1_ENST00000541308.1_Missense_Mutation_p.P357S|DAG1_ENST00000539901.1_Missense_Mutation_p.P357S|DAG1_ENST00000538711.1_Missense_Mutation_p.P357S|DAG1_ENST00000515359.2_Missense_Mutation_p.P357S	p.P357S	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	1791	+			357			Mucin-like domain.|Required for laminin recognition.|Thr-rich.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.1069C>T	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003176	0.74932	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65788	-0.6083	9	.	.	.	-11.3502	18.6912	0.91583	0.0:1.0:0.0:0.0	.	357	Q14118	DAG1_HUMAN	S	357	ENSP00000440705:P357S;ENSP00000312435:P357S;ENSP00000442600:P357S;ENSP00000440590:P357S;ENSP00000439334:P357S;ENSP00000438421:P357S	.	P	+	1	0	DAG1	49544017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	CCA		0.612	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			56	101	0	0	0	1	0	56	101				
CTBP2	1488	broad.mit.edu	37	10	126715138	126715138	+	Intron	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr10:126715138G>A	ENST00000337195.5	-	3	458				CTBP2_ENST00000309035.6_Silent_p.P397P|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCCAGCTCGGGGGGATGCTG	0.687																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1189-1191)ccC>ccT		C-terminal binding protein 2							10.0	8.0	9.0					10																	126715138		2135	4185	6320	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715138G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12427C>T	10.37:g.126715138G>A						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	p.P397P	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1321	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.1191C>T	CCDS7643.1																																																																																				0.687	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		3	5	0	0	0	1	0	3	5				
ART1	417	broad.mit.edu	37	11	3685393	3685393	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:3685393T>A	ENST00000250693.1	+	5	1059	c.958T>A	c.(958-960)Ttt>Att	p.F320I	Y_RNA_ENST00000363331.1_RNA|Y_RNA_ENST00000364409.1_RNA	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	320					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GGTGAGGGCCTTTCCAGATGG	0.597																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(958-960)Ttt>Att		ADP-ribosyltransferase 1	Becaplermin(DB00102)						159.0	127.0	138.0					11																	3685393		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3685393T>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.958T>A	11.37:g.3685393T>A	ENSP00000250693:p.Phe320Ile						p.F320I	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	5	1059	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	320					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.958T>A	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185358	0.57909	.	.	ENSG00000129744	ENST00000250693	T	0.07444	3.19	4.73	2.43	0.29744	.	0.487729	0.18854	N	0.129330	T	0.07279	0.0184	L	0.51422	1.61	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.32241	-0.9914	10	0.32370	T	0.25	.	4.9029	0.13784	0.0:0.3146:0.0:0.6854	.	320	P52961	NAR1_HUMAN	I	320	ENSP00000250693:F320I	ENSP00000250693:F320I	F	+	1	0	ART1	3641969	0.011000	0.17503	0.024000	0.17045	0.040000	0.13550	0.687000	0.25407	0.443000	0.26582	0.533000	0.62120	TTT		0.597	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		63	78	0	0	0	1	0	63	78				
FLT1	2321	broad.mit.edu	37	13	29001405	29001405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:29001405G>A	ENST00000282397.4	-	10	1578	c.1327C>T	c.(1327-1329)Ctc>Ttc	p.L443F	FLT1_ENST00000541932.1_Missense_Mutation_p.L443F|FLT1_ENST00000539099.1_Missense_Mutation_p.L443F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	443	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGGTAGAGAGCCGGGTCT	0.488																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1327-1329)Ctc>Ttc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						130.0	112.0	118.0					13																	29001405		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29001405G>A	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1327C>T	13.37:g.29001405G>A	ENSP00000282397:p.Leu443Phe					FLT1_ENST00000541932.1_Missense_Mutation_p.L443F|FLT1_ENST00000539099.1_Missense_Mutation_p.L443F	p.L443F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	10	1578	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	443			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1327C>T	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010180	0.35415	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.36878	1.23;1.23;1.5	5.9	5.06	0.68205	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.225081	0.37530	N	0.002047	T	0.58609	0.2134	M	0.78637	2.42	0.38725	D	0.953529	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.77004	0.988;0.988;0.988;0.989	T	0.61168	-0.7117	10	0.17369	T	0.5	.	15.0998	0.72266	0.0677:0.0:0.9323:0.0	.	443;443;443;443	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	F	443	ENSP00000282397:L443F;ENSP00000437631:L443F;ENSP00000442630:L443F	ENSP00000282397:L443F	L	-	1	0	FLT1	27899405	0.998000	0.40836	0.201000	0.23476	0.008000	0.06430	2.782000	0.47758	1.511000	0.48818	0.650000	0.86243	CTC		0.488	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			30	49	0	0	0	1	0	30	49				
ALB	213	broad.mit.edu	37	4	74277775	74277775	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:74277775T>A	ENST00000503124.1	+	5	533	c.326T>A	c.(325-327)gTg>gAg	p.V109E	ALB_ENST00000509063.1_Missense_Mutation_p.V259E|ALB_ENST00000415165.2_Missense_Mutation_p.V67E|ALB_ENST00000401494.3_Missense_Mutation_p.V144E|ALB_ENST00000295897.4_Missense_Mutation_p.V259E|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCAAGTTAGTGACAGATCTT	0.438																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(775-777)gTg>gAg		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						164.0	155.0	158.0					4																	74277775		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74277775T>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.326T>A	4.37:g.74277775T>A	ENSP00000421027:p.Val109Glu					ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V109E|ALB_ENST00000509063.1_Missense_Mutation_p.V259E|ALB_ENST00000415165.2_Missense_Mutation_p.V67E|ALB_ENST00000401494.3_Missense_Mutation_p.V144E	p.V259E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	865	+	Breast(15;0.00102)		259			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.776T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.43|16.43	3.120677|3.120677	0.56613|0.56613	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.76186	.|-1.0;-1.0;-1.0;-1.0;-1.0	6.02|6.02	0.888|0.888	0.19206|0.19206	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.532223	.|0.19903	.|N	.|0.103466	D|D	0.85588|0.85588	0.5731|0.5731	M|M	0.88181|0.88181	2.935|2.935	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.997;0.994;0.995;0.996;0.996	T|T	0.76217|0.76217	-0.3040|-0.3040	5|10	.|0.72032	.|D	.|0.01	-9.8442|-9.8442	9.1386|9.1386	0.36890|0.36890	0.0:0.2832:0.0:0.7168|0.0:0.2832:0.0:0.7168	.|.	.|144;67;109;259;259	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	R|E	103|259;67;109;259;144;268	.|ENSP00000295897:V259E;ENSP00000401820:V67E;ENSP00000421027:V109E;ENSP00000422784:V259E;ENSP00000384695:V144E	.|ENSP00000295897:V259E	S|V	+|+	3|2	2|0	ALB|ALB	74496639|74496639	0.048000|0.048000	0.20356|0.20356	0.040000|0.040000	0.18447|0.18447	0.665000|0.665000	0.39181|0.39181	0.332000|0.332000	0.19751|0.19751	-0.042000|-0.042000	0.13535|0.13535	0.533000|0.533000	0.62120|0.62120	AGT|GTG		0.438	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		29	38	0	0	0	1	0	29	38				
SH3TC2	79628	broad.mit.edu	37	5	148406772	148406772	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:148406772G>A	ENST00000515425.1	-	11	2624	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L	SH3TC2_ENST00000394358.2_Silent_p.L726L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000538184.1_Silent_p.L388L|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	841					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCCAGGAGGTTATAGA	0.557																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1162-1164)ctC>ctT		SH3 domain and tetratricopeptide repeats 2							159.0	172.0	168.0					5																	148406772		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148406772G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2523C>T	5.37:g.148406772G>A						SH3TC2_ENST00000394358.2_Silent_p.L726L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000515425.1_Silent_p.L841L	p.L388L			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2052	-			841					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.1164C>T	CCDS4293.1																																																																																				0.557	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		112	146	0	0	0	1	0	112	146				
MKL1	57591	broad.mit.edu	37	22	40827457	40827457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr22:40827457G>A	ENST00000355630.3	-	6	681	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	MKL1_ENST00000402630.1_Missense_Mutation_p.R31C|MKL1_ENST00000396617.3_Missense_Mutation_p.R31C|MKL1_ENST00000407029.1_Missense_Mutation_p.R31C|MKL1_ENST00000402042.1_Missense_Mutation_p.R31C	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	31	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				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						GGCCGGGAACGAATCTTCCGT	0.473			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.(91-93)Cgt>Tgt		megakaryoblastic leukemia (translocation) 1							246.0	226.0	233.0					22																	40827457		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.chr22:40827457G>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.91C>T	22.37:g.40827457G>A	ENSP00000347847:p.Arg31Cys					MKL1_ENST00000407029.1_Missense_Mutation_p.R31C|MKL1_ENST00000402630.1_Missense_Mutation_p.R31C|MKL1_ENST00000355630.3_Missense_Mutation_p.R31C|MKL1_ENST00000402042.1_Missense_Mutation_p.R31C	p.R31C			Q969V6	MKL1_HUMAN			6	681	-			31			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.91C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639378	0.87760	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029;ENST00000402630;ENST00000422851	D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	L	0.50919	1.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.96622	0.9460	10	0.87932	D	0	-2.7827	17.5547	0.87887	0.0:0.0:1.0:0.0	.	31;31;31	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	C	31;31;31;31;31;58	ENSP00000347847:R31C;ENSP00000379861:R31C;ENSP00000385584:R31C;ENSP00000385835:R31C;ENSP00000385076:R31C;ENSP00000398478:R58C	ENSP00000347847:R31C	R	-	1	0	MKL1	39157403	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.294000	0.72738	2.456000	0.83038	0.650000	0.86243	CGT		0.473	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		67	123	0	0	0	1	0	67	123				
ZIM3	114026	broad.mit.edu	37	19	57647164	57647164	+	Missense_Mutation	SNP	G	G	A	rs557421274		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:57647164G>A	ENST00000269834.1	-	5	926	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTGAAGGCGTGACTTTGAA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19509	0.0		0.0	False		,,,				2504	0.0					ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(541-543)Cgc>Tgc		zinc finger, imprinted 3							155.0	149.0	151.0					19																	57647164		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647164G>A	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.541C>T	19.37:g.57647164G>A	ENSP00000269834:p.Arg181Cys						p.R181C	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	926	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	181					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.541C>T	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	0.515	-0.864559	0.02590	.	.	ENSG00000141946	ENST00000269834	T	0.37058	1.22	2.08	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17152	0.0412	N	0.17312	0.475	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10989	-1.0606	9	0.56958	D	0.05	.	1.9586	0.03381	0.3874:0.2164:0.2882:0.108	.	181	Q96PE6	ZIM3_HUMAN	C	181	ENSP00000269834:R181C	ENSP00000269834:R181C	R	-	1	0	ZIM3	62338976	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-7.105000	0.00044	-2.662000	0.00418	-2.015000	0.00435	CGC		0.398	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			54	91	0	0	0	1	0	54	91				
COL4A3	1285	broad.mit.edu	37	2	228157944	228157944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:228157944G>A	ENST00000396578.3	+	38	3410	c.3248G>A	c.(3247-3249)gGa>gAa	p.G1083E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1083	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.G1083E(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAAGAAAGGAGAAATGGGG	0.512																																						ENST00000396578.3																			2	Substitution - Missense(2)	p.G1083E(2)	lung(2)	NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3247-3249)gGa>gAa		collagen, type IV, alpha 3 (Goodpasture antigen)							58.0	62.0	61.0					2																	228157944		1837	4090	5927	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228157944G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3248G>A	2.37:g.228157944G>A	ENSP00000379823:p.Gly1083Glu					AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.G1083E	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	38	3410	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1083			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3248G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693632	0.68386	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699;ENST00000304990	D;D	0.99353	-5.77;-5.52	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000022	D	0.99612	0.9859	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98025	1.0373	10	0.87932	D	0	.	17.1927	0.86885	0.0:0.0:1.0:0.0	.	1083;1083;1083;1083	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	E	1083;1083;1083;1083;1083;120	ENSP00000379823:G1083E;ENSP00000302781:G120E	ENSP00000302781:G120E	G	+	2	0	COL4A3	227866188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.712000	0.68407	2.868000	0.98415	0.557000	0.71058	GGA		0.512	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		19	15	0	0	0	1	0	19	15				
ANKMY1	51281	broad.mit.edu	37	2	241465802	241465802	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:241465802G>A	ENST00000272972.3	-	5	961	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000391987.1_Silent_p.G249G|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.G338G|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000405523.3_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	249							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGTGCAAAGCCACTGCGCT	0.537																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(745-747)ggC>ggT		ankyrin repeat and MYND domain containing 1							130.0	109.0	116.0					2																	241465802		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241465802G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.747C>T	2.37:g.241465802G>A						ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.G338G|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Silent_p.G249G|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron	p.G249G			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	6	1113	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	249					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.747C>T	CCDS2536.1																																																																																				0.537	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		25	10	0	0	0	1	0	25	10				
FILIP1	27145	broad.mit.edu	37	6	76022359	76022359	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:76022359C>T	ENST00000237172.7	-	5	3519	c.3189G>A	c.(3187-3189)gaG>gaA	p.E1063E	FILIP1_ENST00000393004.2_Silent_p.E1063E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.E964E	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1063										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTATTGTCCTCTGTGGTTA	0.458																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3187-3189)gaG>gaA		filamin A interacting protein 1							277.0	256.0	263.0					6																	76022359		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76022359C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3189G>A	6.37:g.76022359C>T						FILIP1_ENST00000370020.1_Silent_p.E964E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.E1063E	p.E1063E			Q7Z7B0	FLIP1_HUMAN			5	3410	-			1063					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.3189G>A	CCDS4984.1																																																																																				0.458	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		74	87	0	0	0	1	0	74	87				
ITGA10	8515	broad.mit.edu	37	1	145530899	145530899	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145530899G>A	ENST00000369304.3	+	7	806	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ITGA10_ENST00000539363.1_Missense_Mutation_p.E68K|ITGA10_ENST00000538811.1_Missense_Mutation_p.E80K	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	211	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACAGTATGGGGAGAGCCCTGT	0.493																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(631-633)Gag>Aag		integrin, alpha 10							92.0	90.0	91.0					1																	145530899		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145530899G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.631G>A	1.37:g.145530899G>A	ENSP00000358310:p.Glu211Lys					ITGA10_ENST00000539363.1_Missense_Mutation_p.E68K|ITGA10_ENST00000538811.1_Missense_Mutation_p.E80K	p.E211K	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			7	806	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		211			VWFA.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.631G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997610	0.93227	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.54866	0.55;0.55;0.55	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.64583	0.2611	M	0.80422	2.495	0.54753	D	0.999989	D;D;D;D	0.69078	0.996;0.992;0.984;0.997	D;D;P;D	0.73380	0.966;0.939;0.88;0.98	T	0.68868	-0.5295	10	0.56958	D	0.05	.	10.1604	0.42849	0.0904:0.0:0.9096:0.0	.	177;80;68;211	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	K	211;177;68;80	ENSP00000358310:E211K;ENSP00000439894:E68K;ENSP00000440011:E80K	ENSP00000358310:E211K	E	+	1	0	ITGA10	144242256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.539000	0.85634	0.655000	0.94253	GAG		0.493	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		19	22	0	0	0	1	0	19	22				
OBSCN	84033	broad.mit.edu	37	1	228559548	228559548	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:228559548C>T	ENST00000422127.1	+	94	21113	c.21069C>T	c.(21067-21069)tcC>tcT	p.S7023S	OBSCN_ENST00000366707.4_Silent_p.S4657S|OBSCN_ENST00000570156.2_Silent_p.S7980S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7023	Pro-rich.				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)				AGAGGCCATCCCCGGACAGCC	0.701																																						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.(23938-23940)tcC>tcT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15.0	17.0	16.0					1																	228559548		1966	4149	6115	SO:0001819	synonymous_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.chr1:228559548C>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.21069C>T	1.37:g.228559548C>T						OBSCN_ENST00000422127.1_Silent_p.S7023S|OBSCN_ENST00000366707.4_Silent_p.S4657S	p.S7980S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			105	24014	+		Prostate(94;0.0405)	7023					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23940C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419382	0.25552	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.36	1.33	0.21861	.	.	.	.	.	T	0.21307	0.0513	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	.	1.6221	0.02716	0.1709:0.4773:0.1658:0.186	.	.	.	.	S	1640	.	.	P	+	1	0	OBSCN	226626171	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.027000	0.12371	0.191000	0.20236	0.555000	0.69702	CCC		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		31	8	0	0	0	1	0	31	8				
WWC3	55841	broad.mit.edu	37	X	10085585	10085585	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:10085585C>T	ENST00000380861.4	+	11	1877	c.1486C>T	c.(1486-1488)Cta>Tta	p.L496L	WWC3_ENST00000454666.1_Silent_p.L496L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	496					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTGGGCGCCCTAGACAGACT	0.721																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1486-1488)Cta>Tta		WWC family member 3							7.0	7.0	7.0					X																	10085585		2134	4168	6302	SO:0001819	synonymous_variant	55841							g.chrX:10085585C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1486C>T	X.37:g.10085585C>T						WWC3_ENST00000454666.1_Silent_p.L496L	p.L496L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			11	1877	+			496					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1486C>T	CCDS14136.1																																																																																				0.721	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		7	6	0	0	0	1	0	7	6				
TGFB1	7040	broad.mit.edu	37	19	41854275	41854275	+	Silent	SNP	G	G	A	rs200674778		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:41854275G>A	ENST00000221930.5	-	2	1307	c.441C>T	c.(439-441)ccC>ccT	p.P147P	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	147	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|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)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	AGAGCAACACGGGTTCAGGTA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		13588	0.001		0.0	False		,,,				2504	0.0					ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(439-441)ccC>ccT		transforming growth factor, beta 1	Hyaluronidase(DB00070)						133.0	123.0	126.0					19																	41854275		2203	4300	6503	SO:0001819	synonymous_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41854275G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"""Endogenous ligands"""	11766	protein-coding gene	gene with protein product	"""Camurati-Engelmann disease"", ""prepro-transforming growth factor beta-1"""	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.441C>T	19.37:g.41854275G>A							p.P147P	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			2	1307	-			147					A8K792|Q9UCG4	Silent	SNP	ENST00000221930.5	37	c.441C>T	CCDS33031.1																																																																																				0.507	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			58	100	0	0	0	1	0	58	100				
PVR	5817	broad.mit.edu	37	19	45150650	45150650	+	Missense_Mutation	SNP	C	C	T	rs371901938		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:45150650C>T	ENST00000425690.3	+	2	534	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	PVR_ENST00000403059.4_Missense_Mutation_p.H79Y|PVR_ENST00000344956.4_Missense_Mutation_p.H79Y|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.H79Y	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	79	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCGTCTTCCACCAAACGCA	0.622																																						ENST00000425690.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(235-237)Cac>Tac		poliovirus receptor							49.0	39.0	42.0					19																	45150650		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45150650C>T	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.235C>T	19.37:g.45150650C>T	ENSP00000402060:p.His79Tyr					PVR_ENST00000403059.4_Missense_Mutation_p.H79Y|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.H79Y|PVR_ENST00000406449.4_Missense_Mutation_p.H79Y	p.H79Y	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	2	534	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	79			Ig-like V-type.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.235C>T	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818101	0.71028	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.265482	0.26708	N	0.022908	T	0.78181	0.4243	M	0.79475	2.455	0.45035	D	0.998058	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.997;0.998	T	0.79890	-0.1612	10	0.52906	T	0.07	.	13.3244	0.60450	0.0:1.0:0.0:0.0	.	79;79;79;79	P15151-2;P15151-3;P15151-4;P15151	.;.;.;PVR_HUMAN	Y	79	ENSP00000340870:H79Y;ENSP00000402060:H79Y;ENSP00000383907:H79Y;ENSP00000385344:H79Y	ENSP00000340870:H79Y	H	+	1	0	PVR	49842490	1.000000	0.71417	0.031000	0.17742	0.024000	0.10985	4.109000	0.57824	2.207000	0.71202	0.471000	0.43371	CAC		0.622	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		10	17	0	0	0	1	0	10	17				
NLRP11	204801	broad.mit.edu	37	19	56303724	56303724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:56303724C>T	ENST00000589093.1	-	7	2549	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	NLRP11_ENST00000443188.1_Missense_Mutation_p.G819E|NLRP11_ENST00000360133.3_Missense_Mutation_p.G765E|NLRP11_ENST00000592953.1_Missense_Mutation_p.G720E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G765E			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	819							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGCAACACTCCGTAATTTTT	0.468																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2455-2457)gGa>gAa		NLR family, pyrin domain containing 11							198.0	175.0	183.0					19																	56303724		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56303724C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2456G>A	19.37:g.56303724C>T	ENSP00000466285:p.Gly819Glu					NLRP11_ENST00000360133.3_Missense_Mutation_p.G765E|NLRP11_ENST00000592953.1_Missense_Mutation_p.G720E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G819E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G765E	p.G819E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3166	-		Colorectal(82;0.0002)	819					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2456G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519244	0.27211	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.61158	0.13;0.13	2.18	-0.139	0.13460	.	.	.	.	.	T	0.74741	0.3756	M	0.93062	3.375	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.68765	0.913;0.96	T	0.61038	-0.7143	9	0.62326	D	0.03	.	3.4027	0.07330	0.0:0.5594:0.2715:0.1692	.	819;765	P59045;P59045-2	NAL11_HUMAN;.	E	819;765	ENSP00000409898:G819E;ENSP00000353251:G765E	ENSP00000353251:G765E	G	-	2	0	NLRP11	60995536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.135000	0.15952	0.039000	0.15632	-0.182000	0.12963	GGA		0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		43	68	0	0	0	1	0	43	68				
PLEKHG4	25894	broad.mit.edu	37	16	67322298	67322298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr16:67322298C>T	ENST00000360461.5	+	19	5984	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1069F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1150							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGCCAGCCCTCTTTGAGTATG	0.627																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3448-3450)tCt>tTt		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							43.0	46.0	45.0					16																	67322298		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67322298C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3449C>T	16.37:g.67322298C>T	ENSP00000353646:p.Ser1150Phe					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1069F|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1150F	p.S1150F	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	19	5984	+			1150					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.3449C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623892	0.87460	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.18657	2.2;2.2;2.2;2.34	4.87	4.87	0.63330	.	.	.	.	.	T	0.45397	0.1340	M	0.64997	1.995	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45848	-0.9233	9	0.87932	D	0	.	17.0105	0.86405	0.0:1.0:0.0:0.0	.	1069;1150	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	F	1150;1150;1150;1069	ENSP00000353646:S1150F;ENSP00000401118:S1150F;ENSP00000368649:S1150F;ENSP00000398030:S1069F	ENSP00000353646:S1150F	S	+	2	0	PLEKHG4	65879799	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.553000	0.67287	2.243000	0.73865	0.462000	0.41574	TCT		0.627	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		34	35	0	0	0	1	0	34	35				
NFASC	23114	broad.mit.edu	37	1	204937395	204937395	+	Missense_Mutation	SNP	G	G	A	rs374629132		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:204937395G>A	ENST00000401399.1	+	8	924	c.725G>A	c.(724-726)aGa>aAa	p.R242K	NFASC_ENST00000339876.6_Missense_Mutation_p.R242K|NFASC_ENST00000367171.4_Missense_Mutation_p.R242K|NFASC_ENST00000367170.4_Missense_Mutation_p.R242K|NFASC_ENST00000404076.1_Missense_Mutation_p.R236K|NFASC_ENST00000404907.1_Missense_Mutation_p.R253K|NFASC_ENST00000367169.4_Missense_Mutation_p.R242K|NFASC_ENST00000338515.6_Missense_Mutation_p.R242K|NFASC_ENST00000403080.1_Missense_Mutation_p.R242K|NFASC_ENST00000513543.1_Missense_Mutation_p.R253K|NFASC_ENST00000338586.6_Missense_Mutation_p.R242K|NFASC_ENST00000539706.1_Missense_Mutation_p.R253K|NFASC_ENST00000367172.4_Missense_Mutation_p.R242K|NFASC_ENST00000360049.4_Missense_Mutation_p.R253K			O94856	NFASC_HUMAN	neurofascin	242					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTTGCAGAAAGAACACCAAGC	0.577																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(724-726)aGa>aAa		neurofascin							125.0	111.0	116.0					1																	204937395		2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204937395G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.725G>A	1.37:g.204937395G>A	ENSP00000385637:p.Arg242Lys					NFASC_ENST00000404907.1_Missense_Mutation_p.R253K|NFASC_ENST00000513543.1_Missense_Mutation_p.R253K|NFASC_ENST00000360049.4_Missense_Mutation_p.R253K|NFASC_ENST00000367170.4_Missense_Mutation_p.R242K|NFASC_ENST00000367171.4_Missense_Mutation_p.R242K|NFASC_ENST00000404076.1_Missense_Mutation_p.R236K|NFASC_ENST00000338586.6_Missense_Mutation_p.R242K|NFASC_ENST00000367169.4_Missense_Mutation_p.R242K|NFASC_ENST00000339876.6_Missense_Mutation_p.R242K|NFASC_ENST00000338515.6_Missense_Mutation_p.R242K|NFASC_ENST00000401399.1_Missense_Mutation_p.R242K|NFASC_ENST00000403080.1_Missense_Mutation_p.R242K|NFASC_ENST00000539706.1_Missense_Mutation_p.R253K	p.R242K			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		9	1053	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		242					B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.725G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.907093|2.907093	0.52333|0.52333	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.72167	.|-0.16;-0.21;-0.17;-0.14;-0.14;-0.16;-0.04;-0.04;-0.12;-0.63;-0.63;-0.19;-0.14;-0.04;-0.04;-0.01	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.106537	.|0.41823	.|D	.|0.000818	T|T	0.69214|0.69214	0.3086|0.3086	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B;P;B;B	.|0.38504	.|0.075;0.261;0.028;0.236;0.634;0.278;0.001	.|B;B;B;B;B;B;B	.|0.39299	.|0.04;0.222;0.028;0.166;0.296;0.161;0.01	T|T	0.66724|0.66724	-0.5851|-0.5851	5|10	.|0.48119	.|T	.|0.1	.|.	13.6254|13.6254	0.62161|0.62161	0.0:0.1552:0.8448:0.0|0.0:0.1552:0.8448:0.0	.|.	.|253;253;338;242;242;253;242	.|O94856-11;O94856-8;B4DRH7;F8W791;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.;.	K|K	212|242;242;242;242;242;242;253;253;253;242;242;242;236;242;253;253;229	.|ENSP00000356140:R242K;ENSP00000356139:R242K;ENSP00000356138:R242K;ENSP00000342128:R242K;ENSP00000344786:R242K;ENSP00000343509:R242K;ENSP00000438614:R253K;ENSP00000353154:R253K;ENSP00000356137:R242K;ENSP00000412161:R242K;ENSP00000384875:R242K;ENSP00000385676:R236K;ENSP00000385637:R242K;ENSP00000384061:R253K;ENSP00000425908:R253K;ENSP00000415031:R229K	.|ENSP00000295776:R253K	E|R	+|+	1|2	0|0	NFASC|NFASC	203204018|203204018	0.002000|0.002000	0.14202|0.14202	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.997000|0.997000	0.29731|0.29731	2.490000|2.490000	0.84030|0.84030	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		19	51	0	0	0	1	0	19	51				
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:205069074G>A	ENST00000264515.6	-	8	1012	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(871-873)Cat>Tat		retinoblastoma binding protein 5							133.0	137.0	136.0					1																	205069074		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205069074G>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.871C>T	1.37:g.205069074G>A	ENSP00000264515:p.His291Tyr					RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		8	1012	-	Breast(84;0.0505)		291					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.871C>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404215	0.96051	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.28895	1.59;1.59	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);	0.138760	0.64402	D	0.000003	T	0.60907	0.2305	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	D;P;D;P	0.69824	0.966;0.854;0.917;0.869	T	0.62435	-0.6855	10	0.87932	D	0	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	164;326;291;291	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	Y	291	ENSP00000264515:H291Y;ENSP00000356132:H291Y	ENSP00000264515:H291Y	H	-	1	0	RBBP5	203335697	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	9.714000	0.98744	2.873000	0.98535	0.563000	0.77884	CAT		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		37	110	0	0	0	1	0	37	110				
DNAH5	1767	broad.mit.edu	37	5	13883178	13883178	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:13883178C>T	ENST00000265104.4	-	20	3113	c.3009G>A	c.(3007-3009)aaG>aaA	p.K1003K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1003	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1003N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTGTTCTGCTTCATGTTAG	0.433									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.K1003N(1)	large_intestine(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3007-3009)aaG>aaA		dynein, axonemal, heavy chain 5							109.0	103.0	105.0					5																	13883178		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883178C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3009G>A	5.37:g.13883178C>T						CTB-51A17.1_ENST00000503244.1_RNA	p.K1003K	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			20	3113	-	Lung NSC(4;0.00476)		1003			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.3009G>A	CCDS3882.1																																																																																				0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		33	49	0	0	0	1	0	33	49				
PTK2B	2185	broad.mit.edu	37	8	27278228	27278228	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:27278228G>A	ENST00000397501.1	+	9	1246	c.438G>A	c.(436-438)gaG>gaA	p.E146E	PTK2B_ENST00000420218.2_Silent_p.E146E|PTK2B_ENST00000346049.5_Silent_p.E146E|PTK2B_ENST00000544172.1_Silent_p.E146E|PTK2B_ENST00000338238.4_Silent_p.E146E|PTK2B_ENST00000517339.1_Silent_p.E146E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GCCTGAAGGAGGACAGGACCA	0.483																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(436-438)gaG>gaA		protein tyrosine kinase 2 beta							132.0	121.0	125.0					8																	27278228		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27278228G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.438G>A	8.37:g.27278228G>A						PTK2B_ENST00000517339.1_Silent_p.E146E|PTK2B_ENST00000420218.2_Silent_p.E146E|PTK2B_ENST00000338238.4_Silent_p.E146E|PTK2B_ENST00000346049.5_Silent_p.E146E|PTK2B_ENST00000544172.1_Silent_p.E146E	p.E146E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	9	1246	+		Ovarian(32;2.72e-05)	146			FERM.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.438G>A	CCDS6057.1																																																																																				0.483	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		28	58	0	0	0	1	0	28	58				
HACE1	57531	broad.mit.edu	37	6	105233028	105233028	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:105233028C>T	ENST00000262903.4	-	12	1517	c.1241G>A	c.(1240-1242)gGg>gAg	p.G414E	HACE1_ENST00000369125.2_Missense_Mutation_p.G414E|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	414					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGCTCCCAGGTCCTGG	0.438																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(1240-1242)gGg>gAg		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							110.0	104.0	106.0					6																	105233028		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105233028C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1241G>A	6.37:g.105233028C>T	ENSP00000262903:p.Gly414Glu					HACE1_ENST00000369125.2_Missense_Mutation_p.G414E	p.G414E	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	12	1517	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	414					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1241G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	8.849	0.944012	0.18281	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.35605	1.3;1.32	4.8	2.84	0.33178	.	0.170988	0.50627	N	0.000105	T	0.04588	0.0125	N	0.08118	0	0.39820	D	0.972824	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.39014	-0.9634	10	0.02654	T	1	.	7.7732	0.29021	0.0:0.6303:0.0:0.3697	.	414;414;67	E9PGP0;Q8IYU2;Q8IYU2-3	.;HACE1_HUMAN;.	E	414	ENSP00000262903:G414E;ENSP00000358121:G414E	ENSP00000262903:G414E	G	-	2	0	HACE1	105339721	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.672000	0.25187	0.443000	0.26582	0.460000	0.39030	GGG		0.438	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		22	28	0	0	0	1	0	22	28				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	40	0	0	0	1	0	3	40				
GPR50	9248	broad.mit.edu	37	X	150345221	150345221	+	Missense_Mutation	SNP	C	C	T	rs201148153		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:150345221C>T	ENST00000218316.3	+	1	97	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	10					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTCCCACCCCCTATGGCTG	0.552																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(28-30)Ccc>Tcc		G protein-coupled receptor 50							67.0	71.0	70.0					X																	150345221		1911	4108	6019	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345221C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.28C>T	X.37:g.150345221C>T	ENSP00000218316:p.Pro10Ser					GPR50-AS1_ENST00000454196.1_RNA	p.P10S	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	97	+	Acute lymphoblastic leukemia(192;6.56e-05)		10					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.28C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	7.117	0.577181	0.13686	.	.	ENSG00000102195	ENST00000218316	T	0.73047	-0.71	4.18	2.23	0.28157	.	0.771472	0.11984	N	0.510510	T	0.45895	0.1365	N	0.08118	0	0.09310	N	1	B	0.24186	0.099	B	0.20184	0.028	T	0.36696	-0.9737	10	0.59425	D	0.04	-0.7006	3.7558	0.08585	0.2403:0.6279:0.0:0.1317	.	10	Q13585	MTR1L_HUMAN	S	10	ENSP00000218316:P10S	ENSP00000218316:P10S	P	+	1	0	GPR50	150095879	0.807000	0.29009	0.014000	0.15608	0.321000	0.28281	1.086000	0.30853	0.891000	0.36235	0.292000	0.19580	CCC		0.552	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		46	70	0	0	0	1	0	46	70				
HNF4G	3174	broad.mit.edu	37	8	76472686	76472686	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr8:76472686C>T	ENST00000354370.1	+	10	1360	c.1090C>T	c.(1090-1092)Cat>Tat	p.H364Y	HNF4G_ENST00000396423.2_Missense_Mutation_p.H401Y			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	364					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACACTGGTTCATGCAGACCA	0.373																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1201-1203)Cat>Tat		hepatocyte nuclear factor 4, gamma							106.0	97.0	100.0					8																	76472686		2203	4300	6503	SO:0001583	missense	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76472686C>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.1090C>T	8.37:g.76472686C>T	ENSP00000346339:p.His364Tyr					HNF4G_ENST00000354370.1_Missense_Mutation_p.H364Y	p.H401Y	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		9	1325	+	Breast(64;0.0448)		364					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.1201C>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.815327	0.32053	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	T;T	0.69685	-0.42;-0.42	4.86	4.86	0.63082	.	0.484181	0.24891	N	0.034766	T	0.72439	0.3460	M	0.65975	2.015	0.58432	D	0.999994	D;P	0.54397	0.966;0.891	P;P	0.52598	0.703;0.487	T	0.67818	-0.5572	10	0.10111	T	0.7	.	18.5513	0.91066	0.0:1.0:0.0:0.0	.	401;364	F1D8Q4;Q14541	.;HNF4G_HUMAN	Y	364;401	ENSP00000346339:H364Y;ENSP00000379701:H401Y	ENSP00000346339:H364Y	H	+	1	0	HNF4G	76635241	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.731000	0.74785	2.683000	0.91414	0.655000	0.94253	CAT		0.373	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		18	34	0	0	0	1	0	18	34				
DLEC1	9940	broad.mit.edu	37	3	38136501	38136501	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:38136501G>A	ENST00000308059.6	+	13	2072	c.2051G>A	c.(2050-2052)aGa>aAa	p.R684K	DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K|DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCATGCCCAGAAAGGGGGTT	0.537																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2050-2052)aGa>aAa		deleted in lung and esophageal cancer 1							84.0	90.0	88.0					3																	38136501		2025	4188	6213	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38136501G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2051G>A	3.37:g.38136501G>A	ENSP00000308597:p.Arg684Lys					DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K	p.R684K			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	13	2072	+			684						Missense_Mutation	SNP	ENST00000308059.6	37	c.2051G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	2.312	-0.357652	0.05138	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04603	3.61;3.59;3.83	5.25	-3.66	0.04489	.	2.581860	0.01084	N	0.005057	T	0.01976	0.0062	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.44251	-0.9340	10	0.06099	T	0.92	0.6499	8.9564	0.35820	0.2407:0.5408:0.2185:0.0	.	684;684;684	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	K	684	ENSP00000308597:R684K;ENSP00000315914:R684K;ENSP00000410427:R684K	ENSP00000308597:R684K	R	+	2	0	DLEC1	38111505	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.039000	0.03550	-0.602000	0.05775	-1.058000	0.02302	AGA		0.537	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		24	30	0	0	0	1	0	24	30				
RIMS1	22999	broad.mit.edu	37	6	72947532	72947532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:72947532G>A	ENST00000521978.1	+	9	1864	c.1864G>A	c.(1864-1866)Gga>Aga	p.G622R	RIMS1_ENST00000520567.1_Missense_Mutation_p.G622R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G15R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G622R|RIMS1_ENST00000264839.7_Missense_Mutation_p.G622R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G622R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G622R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G622R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G622R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G96R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G81R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G96R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	622	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGGTTGTTGGAGGAAAAAT	0.358																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(1864-1866)Gga>Aga		regulating synaptic membrane exocytosis 1							97.0	91.0	93.0					6																	72947532		1837	4085	5922	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72947532G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1864G>A	6.37:g.72947532G>A	ENSP00000428417:p.Gly622Arg					RIMS1_ENST00000401910.3_Missense_Mutation_p.G96R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G81R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G622R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G15R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G96R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G622R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G622R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G622R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G622R	p.G622R			Q86UR5	RIMS1_HUMAN			9	1864	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	622			PDZ.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.1864G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.865112|4.865112	0.91511|0.91511	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66|.	5.08|5.08	5.08|5.08	0.68730|0.68730	PDZ/DHR/GLGF (4);|.	0.000000|.	0.64402|.	D|.	0.000008|.	D|.	0.84588|.	0.5505|.	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|.	0.88606|.	0.3153|.	10|.	0.87932|.	D|.	0|.	-18.258|-18.258	18.4584|18.4584	0.90729|0.90729	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	81;96;622;81;96;622;622|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	R|X	622;622;622;622;622;622;622;622;622;622;622;622;96;96;15;15;81|195	ENSP00000430101:G622R;ENSP00000275037:G622R;ENSP00000264839:G622R;ENSP00000429959:G622R;ENSP00000430408:G622R;ENSP00000430502:G622R;ENSP00000430932:G622R;ENSP00000428417:G622R;ENSP00000385649:G96R;ENSP00000428328:G96R;ENSP00000411235:G15R;ENSP00000389503:G15R;ENSP00000428367:G81R|.	ENSP00000264839:G622R|.	G|W	+|+	1|2	0|0	RIMS1|RIMS1	73004253|73004253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.864000|9.864000	0.99589|0.99589	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GGA|TGG		0.358	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			7	21	0	0	0	1	0	7	21				
HELZ2	85441	broad.mit.edu	37	20	62200787	62200787	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr20:62200787C>T	ENST00000467148.1	-	4	871	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	268					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGCTGCAGCCCCAGCTTTTGT	0.667																																						ENST00000467148.1																			0											c.(802-804)Ggg>Agg		helicase with zinc finger 2, transcriptional coactivator							19.0	24.0	22.0					20																	62200787		2196	4295	6491	SO:0001583	missense	85441							g.chr20:62200787C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.802G>A	20.37:g.62200787C>T	ENSP00000417401:p.Gly268Arg						p.G268R	NM_001037335.2	NP_001032412.2					4	871	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.802G>A	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	1.150	-0.647072	0.03506	.	.	ENSG00000130589	ENST00000467148	T	0.77358	-1.09	4.5	-1.73	0.08081	.	1.912860	0.02096	N	0.053494	T	0.53498	0.1800	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47086	-0.9144	10	0.13108	T	0.6	-10.5806	7.189	0.25814	0.0:0.1982:0.2584:0.5434	.	268	Q9BYK8	PR285_HUMAN	R	268	ENSP00000417401:G268R	ENSP00000417401:G268R	G	-	1	0	RP4-697K14.7	61671231	0.000000	0.05858	0.117000	0.21633	0.575000	0.36095	-0.728000	0.04925	-0.209000	0.10156	0.563000	0.77884	GGG		0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		6	20	0	0	0	1	0	6	20				
DCD	117159	broad.mit.edu	37	12	55039041	55039041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr12:55039041C>T	ENST00000293371.6	-	4	394	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	DCD_ENST00000456047.2_Missense_Mutation_p.G69S	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	69					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCGTCTAGGCCTTTTTCTAGG	0.493																																						ENST00000456047.2																			0				large_intestine(2)|lung(2)|ovary(1)|skin(1)	6						c.(205-207)Ggc>Agc		dermcidin							114.0	108.0	110.0					12																	55039041		2203	4300	6503	SO:0001583	missense	117159				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr12:55039041C>T	AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.205G>A	12.37:g.55039041C>T	ENSP00000293371:p.Gly69Ser					DCD_ENST00000293371.6_Missense_Mutation_p.G69S	p.G69S			P81605	DCD_HUMAN			4	394	-		Myeloproliferative disorder(1001;0.0255)	69					A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	ENST00000293371.6	37	c.205G>A	CCDS8884.1	.	.	.	.	.	.	.	.	.	.	C	4.321	0.058979	0.08339	.	.	ENSG00000161634	ENST00000293371;ENST00000456047	.	.	.	2.54	0.417	0.16421	.	.	.	.	.	T	0.16428	0.0395	N	0.08118	0	0.09310	N	1	B;B	0.27594	0.182;0.182	B;B	0.26416	0.069;0.069	T	0.21177	-1.0253	8	0.87932	D	0	.	3.0819	0.06265	0.0:0.5247:0.2856:0.1897	.	69;69	A5JHP3;P81605	.;DCD_HUMAN	S	69	.	ENSP00000293371:G69S	G	-	1	0	DCD	53325308	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.220000	0.02971	0.096000	0.17463	0.655000	0.94253	GGC		0.493	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406617.1	NM_053283		29	48	0	0	0	1	0	29	48				
DBP	1628	broad.mit.edu	37	19	49134201	49134201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:49134201C>T	ENST00000222122.5	-	4	1314	c.871G>A	c.(871-873)Gag>Aag	p.E291K	DBP_ENST00000593500.1_Missense_Mutation_p.E89K|DBP_ENST00000599385.1_Missense_Mutation_p.E89K	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	291	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TTCTCCTTCTCCAGGAAGGCC	0.672																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(871-873)Gag>Aag		D site of albumin promoter (albumin D-box) binding protein							23.0	25.0	25.0					19																	49134201		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134201C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.871G>A	19.37:g.49134201C>T	ENSP00000222122:p.Glu291Lys					DBP_ENST00000593500.1_Missense_Mutation_p.E89K|DBP_ENST00000599385.1_Missense_Mutation_p.E89K	p.E291K	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1314	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	291			Leucine-zipper.		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.871G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324456	0.95708	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	T	0.64659	0.2618	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69453	-0.5141	10	0.87932	D	0	-16.8673	15.7386	0.77866	0.0:1.0:0.0:0.0	.	291	Q10586	DBP_HUMAN	K	291	ENSP00000222122:E291K	ENSP00000222122:E291K	E	-	1	0	DBP	53826013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.290000	0.78711	2.364000	0.80123	0.563000	0.77884	GAG		0.672	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		11	14	0	0	0	1	0	11	14				
COL28A1	340267	broad.mit.edu	37	7	7480428	7480428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:7480428C>T	ENST00000399429.3	-	21	1855	c.1715G>A	c.(1714-1716)gGa>gAa	p.G572E		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	572	Collagen-like 5.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TACCTTTGGTCCTTCGGGCCC	0.373																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1714-1716)gGa>gAa		collagen, type XXVIII, alpha 1							150.0	150.0	150.0					7																	7480428		1851	4088	5939	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7480428C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1715G>A	7.37:g.7480428C>T	ENSP00000382356:p.Gly572Glu						p.G572E	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	21	1855	-		Ovarian(82;0.0789)	572			Collagen-like 5.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1715G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022024	0.54576	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.99353	-5.77	4.09	3.21	0.36854	.	0.000000	0.64402	U	0.000009	D	0.99530	0.9832	H	0.97732	4.065	0.39385	D	0.966317	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.994	D	0.98821	1.0747	10	0.87932	D	0	-5.0817	7.6775	0.28494	0.0:0.887:0.0:0.113	.	572;572;572	Q2UY09-2;B5MDS6;Q2UY09	.;.;COSA1_HUMAN	E	572	ENSP00000382356:G572E	ENSP00000382347:G572E	G	-	2	0	COL28A1	7446953	0.964000	0.33143	0.963000	0.40424	0.800000	0.45204	2.096000	0.41738	1.313000	0.45069	0.557000	0.71058	GGA		0.373	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		35	49	0	0	0	1	0	35	49				
MAPT	4137	broad.mit.edu	37	17	44051777	44051777	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:44051777G>A	ENST00000571987.1	+	3	247	c.247G>A	c.(247-249)Gga>Aga	p.G83R	MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83R|MAPT_ENST00000262410.5_Missense_Mutation_p.G83R|MAPT_ENST00000344290.5_Missense_Mutation_p.G83R|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83R|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Missense_Mutation_p.G83R|MAPT_ENST00000431008.3_Missense_Mutation_p.G83R|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83R|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000576518.1_5'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	83					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AGTGGATGAGGGAGCTCCCGG	0.627																																						ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(247-249)Gga>Aga		microtubule-associated protein tau							32.0	30.0	30.0					17																	44051777		2202	4300	6502	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44051777G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.247G>A	17.37:g.44051777G>A	ENSP00000458742:p.Gly83Arg					MAPT_ENST00000574436.1_Missense_Mutation_p.G83R|MAPT_ENST00000571987.1_Missense_Mutation_p.G83R|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83R|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83R|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83R|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83R|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83R|MAPT_ENST00000340799.5_Intron	p.G83R	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			4	569	+		Melanoma(429;0.216)	83					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.247G>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	G	1.668	-0.509670	0.04231	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.16457	2.92;2.94;2.34;2.6;2.92	5.94	0.846	0.18955	.	0.492144	0.17250	N	0.181205	T	0.06416	0.0165	N	0.11560	0.145	0.54753	D	0.999983	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.13407	0.003;0.009;0.001	T	0.31696	-0.9934	10	0.08837	T	0.75	-0.4136	4.8965	0.13753	0.3608:0.3739:0.2653:0.0	.	83;83;83	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	R	83	ENSP00000340820:G83R;ENSP00000262410:G83R;ENSP00000303214:G83R;ENSP00000443028:G83R;ENSP00000410838:G83R	ENSP00000262410:G83R	G	+	1	0	MAPT	41407613	1.000000	0.71417	0.908000	0.35775	0.707000	0.40811	0.795000	0.26972	0.237000	0.21200	-0.415000	0.06103	GGA		0.627	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		10	9	0	0	0	1	0	10	9				
APOB	338	broad.mit.edu	37	2	21229160	21229160	+	Missense_Mutation	SNP	C	C	G	rs5742904	byFrequency	TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:21229160C>G	ENST00000233242.1	-	26	10707	c.10580G>C	c.(10579-10581)cGg>cCg	p.R3527P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3527			R -> Q (in FDB; dbSNP:rs5742904). {ECO:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGAAGACCGTGTGCTCTT	0.428																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	GRCh37	CM055087|CM890006	APOB	M	rs5742904	c.(10579-10581)cGg>cCg		apolipoprotein B	Atorvastatin(DB01076)						130.0	134.0	133.0					2																	21229160		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21229160C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10580G>C	2.37:g.21229160C>G	ENSP00000233242:p.Arg3527Pro						p.R3527P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	10707	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3527		R -> Q (in FDB; dbSNP:rs5742904).			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.10580G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231276	0.58777	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.81415	-1.49	5.85	5.85	0.93711	.	0.000000	0.52532	D	0.000076	D	0.90480	0.7018	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90681	0.4605	10	0.87932	D	0	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	3527	P04114	APOB_HUMAN	P	3527	ENSP00000233242:R3527P	ENSP00000233242:R3527P	R	-	2	0	APOB	21082665	1.000000	0.71417	0.948000	0.38648	0.570000	0.35934	6.004000	0.70709	2.768000	0.95171	0.655000	0.94253	CGG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			48	76	0	0	0	1	0	48	76				
FLNA	2316	broad.mit.edu	37	X	153580036	153580036	+	Silent	SNP	G	G	A	rs201203814		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153580036G>A	ENST00000369850.3	-	43	7172	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Silent_p.N2272N|FLNA_ENST00000422373.1_Silent_p.N2304N|FLNA_ENST00000369856.3_Silent_p.N445N|FLNA_ENST00000360319.4_Silent_p.N2304N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2312					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TGTGTTCCTCGTTGAACTTGA	0.607																																						ENST00000422373.1																			0				breast(6)	6						c.(6910-6912)aaC>aaT		filamin A, alpha							50.0	54.0	53.0					X																	153580036		2110	4213	6323	SO:0001819	synonymous_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580036G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6936C>T	X.37:g.153580036G>A						FLNA_ENST00000369850.3_Silent_p.N2312N|FLNA_ENST00000360319.4_Silent_p.N2304N|FLNA_ENST00000369856.3_Silent_p.N445N|FLNA_ENST00000344736.4_Silent_p.N2272N	p.N2304N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			42	7160	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		2312					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.6912C>T	CCDS48194.1																																																																																				0.607	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			30	40	0	0	0	1	0	30	40				
THSD7A	221981	broad.mit.edu	37	7	11521554	11521554	+	Silent	SNP	G	G	A	rs372193367		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:11521554G>A	ENST00000423059.4	-	7	2129	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	626					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A626A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGGCATCACAGGCCACAGGGA	0.507										HNSCC(18;0.044)																												ENST00000423059.3																			1	Substitution - coding silent(1)	p.A626A(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1876-1878)gcC>gcT		thrombospondin, type I, domain containing 7A		G		0,4166		0,0,2083	91.0	92.0	92.0		1878	4.4	1.0	7		92	3,8431		0,3,4214	no	coding-synonymous	THSD7A	NM_015204.2		0,3,6297	AA,AG,GG		0.0356,0.0,0.0238		626/1658	11521554	3,12597	2083	4217	6300	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11521554G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1878C>T	7.37:g.11521554G>A		HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.A626A	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	7	2129	-			626						Silent	SNP	ENST00000423059.4	37	c.1878C>T	CCDS47543.1																																																																																				0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		25	39	0	0	0	1	0	25	39				
PCDHA7	56141	broad.mit.edu	37	5	140215889	140215889	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:140215889G>A	ENST00000525929.1	+	1	1921	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D641N|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGACGGACGCACCGCG	0.652																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1921-1923)Gac>Aac									78.0	82.0	80.0					5																	140215889		2203	4299	6502	SO:0001583	missense	56141							g.chr5:140215889G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1921G>A	5.37:g.140215889G>A	ENSP00000436426:p.Asp641Asn					PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D641N|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.D641N	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1921	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1921G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.191800	0.38707	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.51071	0.72;0.72	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.32753	U	0.005685	T	0.66386	0.2784	M	0.79011	2.435	0.22541	N	0.999003	P;P	0.43169	0.762;0.8	P;P	0.57846	0.828;0.451	T	0.61969	-0.6953	10	0.87932	D	0	.	15.7104	0.77623	0.0:0.0:1.0:0.0	.	641;641	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	N	641	ENSP00000436426:D641N;ENSP00000367365:D641N	ENSP00000367365:D641N	D	+	1	0	PCDHA7	140196073	1.000000	0.71417	0.843000	0.33291	0.123000	0.20343	7.109000	0.77062	1.968000	0.57251	0.462000	0.41574	GAC		0.652	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		38	53	0	0	0	1	0	38	53				
MFGE8	4240	broad.mit.edu	37	15	89453137	89453137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr15:89453137G>A	ENST00000566497.1	-	2	152	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000539437.1_Missense_Mutation_p.P23S|MFGE8_ENST00000268151.7_Missense_Mutation_p.P31S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P31S|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	31	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TTGTGGCAGGGGTTTTTGGAA	0.547																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(67-69)Ccc>Tcc		milk fat globule-EGF factor 8 protein							118.0	114.0	116.0					15																	89453137		2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453137G>A	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.91C>T	15.37:g.89453137G>A	ENSP00000456281:p.Pro31Ser					MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.P31S|MFGE8_ENST00000566497.1_Missense_Mutation_p.P31S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P31S|MFGE8_ENST00000542878.1_Intron	p.P23S			Q08431	MFGM_HUMAN			3	203	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		31					B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.67C>T	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351612	0.82132	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.95035	-3.59;-3.59;-3.59	5.39	5.39	0.77823	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96140	0.9099	10	0.30078	T	0.28	-43.0919	18.0846	0.89453	0.0:0.0:1.0:0.0	.	23;23;31;31	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	S	31;31;23	ENSP00000268150:P31S;ENSP00000268151:P31S;ENSP00000442386:P23S	ENSP00000268150:P31S	P	-	1	0	MFGE8	87254141	1.000000	0.71417	0.980000	0.43619	0.453000	0.32348	9.236000	0.95360	2.700000	0.92200	0.561000	0.74099	CCC		0.547	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		31	68	0	0	0	1	0	31	68				
CARS2	79587	broad.mit.edu	37	13	111290823	111290823	+	IGR	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr13:111290823C>T	ENST00000257347.4	-	0	1879				CARKD_ENST00000458711.2_Missense_Mutation_p.S200F|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.S221F|CARKD_ENST00000309957.2_Silent_p.L376L	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ACCACCACCTCCGACATGATC	0.637																																						ENST00000458711.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						c.(598-600)tCc>tTc		carbohydrate kinase domain containing							42.0	45.0	44.0					13																	111290823		2203	4299	6502	SO:0001628	intergenic_variant	55739							g.chr13:111290823C>T	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347		13.37:g.111290823C>T						CARKD_ENST00000309957.2_Silent_p.L376L|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.S221F	p.S200F			Q8IW45	CARKD_HUMAN			6	611	+			331			YjeF C-terminal.		Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.599C>T	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681379	0.68042	.	.	ENSG00000213995	ENST00000458711;ENST00000424185	T;T	0.22945	1.93;1.93	5.4	4.54	0.55810	Uncharacterised domain, carbohydrate kinase-related (3);	.	.	.	.	T	0.50222	0.1603	.	.	.	0.39828	D	0.97292	D;P;D	0.62365	0.991;0.897;0.988	P;P;D	0.64687	0.837;0.847;0.928	T	0.59150	-0.7508	8	0.87932	D	0	0.1092	14.4105	0.67113	0.0:0.7189:0.281:0.0	.	200;221;331	B4DQR1;Q8IW45-4;Q8IW45	.;.;CARKD_HUMAN	F	200;221	ENSP00000412789:S200F;ENSP00000413191:S221F	ENSP00000413191:S221F	S	+	2	0	CARKD	110088824	0.515000	0.26210	0.265000	0.24526	0.822000	0.46500	2.837000	0.48191	1.229000	0.43630	0.561000	0.74099	TCC		0.637	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		24	57	0	0	0	1	0	24	57				
COL19A1	1310	broad.mit.edu	37	6	70866593	70866593	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr6:70866593T>G	ENST00000322773.4	+	34	2372	c.2270T>G	c.(2269-2271)aTa>aGa	p.I757R	COL19A1_ENST00000393344.1_Missense_Mutation_p.I379R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	757	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACCCTGGGATACCTGGGGAG	0.368																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2269-2271)aTa>aGa		collagen, type XIX, alpha 1							79.0	83.0	81.0					6																	70866593		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866593T>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2270T>G	6.37:g.70866593T>G	ENSP00000316030:p.Ile757Arg					COL19A1_ENST00000393344.1_Missense_Mutation_p.I379R	p.I757R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			34	2372	+			757			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2270T>G	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769742	0.31320	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.92805	-3.11;-3.11	5.59	4.43	0.53597	.	0.613409	0.15968	N	0.235905	T	0.80341	0.4605	N	0.21373	0.66	0.21719	N	0.999575	P	0.39022	0.655	P	0.46629	0.522	T	0.71686	-0.4518	10	0.16420	T	0.52	.	10.0175	0.42022	0.0:0.0762:0.0:0.9238	.	757	Q14993	COJA1_HUMAN	R	757;379	ENSP00000316030:I757R;ENSP00000377013:I379R	ENSP00000316030:I757R	I	+	2	0	COL19A1	70923314	0.973000	0.33851	0.227000	0.23927	0.641000	0.38312	3.660000	0.54496	0.964000	0.38108	0.533000	0.62120	ATA		0.368	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			3	9	0	0	0	1	0	3	9				
KRT28	162605	broad.mit.edu	37	17	38954593	38954593	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:38954593C>T	ENST00000306658.7	-	3	649	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCGCCGTAATCCGTTGATGTC	0.498																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(583-585)gGa>gAa		keratin 28							100.0	106.0	104.0					17																	38954593		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38954593C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.584G>A	17.37:g.38954593C>T	ENSP00000305263:p.Gly195Glu						p.G195E	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			3	649	-		Breast(137;0.000301)	195			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.584G>A	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436331	0.62955	.	.	ENSG00000173908	ENST00000306658	T	0.77358	-1.09	5.32	5.32	0.75619	Filament (1);	0.000000	0.64402	D	0.000008	D	0.88160	0.6362	M	0.90082	3.085	0.51482	D	0.999927	P	0.49961	0.93	P	0.53988	0.739	D	0.90491	0.4467	10	0.87932	D	0	.	18.3458	0.90321	0.0:1.0:0.0:0.0	.	195	Q7Z3Y7	K1C28_HUMAN	E	195	ENSP00000305263:G195E	ENSP00000305263:G195E	G	-	2	0	KRT28	36208119	0.958000	0.32768	0.220000	0.23810	0.388000	0.30384	3.199000	0.51043	2.656000	0.90262	0.561000	0.74099	GGA		0.498	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		37	57	0	0	0	1	0	37	57				
CDH10	1008	broad.mit.edu	37	5	24488014	24488014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:24488014C>T	ENST00000264463.4	-	12	2632	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	709					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCCGGACGTCCGTGTTATCT	0.473										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2125-2127)Gac>Aac		cadherin 10, type 2 (T2-cadherin)							82.0	88.0	86.0					5																	24488014		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488014C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2125G>A	5.37:g.24488014C>T	ENSP00000264463:p.Asp709Asn	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.D709N	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2632	-			709					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2125G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586826	0.86851	.	.	ENSG00000040731	ENST00000264463	T	0.78707	-1.2	5.41	5.41	0.78517	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	M	0.73598	2.24	0.54753	D	0.999983	P	0.42039	0.769	B	0.42214	0.38	T	0.81714	-0.0807	10	0.45353	T	0.12	.	18.1996	0.89833	0.0:1.0:0.0:0.0	.	709	Q9Y6N8	CAD10_HUMAN	N	709	ENSP00000264463:D709N	ENSP00000264463:D709N	D	-	1	0	CDH10	24523771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.702000	0.84576	2.544000	0.85801	0.655000	0.94253	GAC		0.473	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		30	47	0	0	0	1	0	30	47				
UBA6	55236	broad.mit.edu	37	4	68497581	68497581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr4:68497581C>T	ENST00000322244.5	-	24	2247	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	730					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACTGCCATCTTTTAATCGT	0.294																																						ENST00000322244.4																			0				central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2188-2190)Gat>Aat		ubiquitin-like modifier activating enzyme 6							49.0	51.0	50.0					4																	68497581		2199	4294	6493	SO:0001583	missense	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68497581C>T	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2188G>A	4.37:g.68497581C>T	ENSP00000313454:p.Asp730Asn						p.D730N	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			24	2247	-			730					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	c.2188G>A	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324882	0.81580	.	.	ENSG00000033178	ENST00000322244	T	0.64618	-0.11	5.25	5.25	0.73442	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.55965	0.788	T	0.68637	-0.5356	10	0.21014	T	0.42	-8.9289	18.8296	0.92132	0.0:1.0:0.0:0.0	.	730	A0AVT1	UBA6_HUMAN	N	730	ENSP00000313454:D730N	ENSP00000313454:D730N	D	-	1	0	UBA6	68180176	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.298000	0.78815	2.459000	0.83118	0.555000	0.69702	GAT		0.294	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		12	20	0	0	0	1	0	12	20				
ZNF600	162966	broad.mit.edu	37	19	53270695	53270695	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:53270695C>T	ENST00000338230.3	-	3	581	c.314G>A	c.(313-315)gGt>gAt	p.G105D		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	105					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)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACCAATTTTACCTTTGATCTG	0.393																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(313-315)gGt>gAt		zinc finger protein 600							157.0	157.0	157.0					19																	53270695		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270695C>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.314G>A	19.37:g.53270695C>T	ENSP00000344791:p.Gly105Asp						p.G105D	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	581	-			105					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.314G>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.012	0.557046	0.13436	.	.	ENSG00000189190	ENST00000338230	T	0.08193	3.12	1.57	-0.522	0.11928	.	.	.	.	.	T	0.06872	0.0175	L	0.46819	1.47	0.09310	N	1	B	0.26635	0.155	B	0.19666	0.026	T	0.34900	-0.9810	9	0.54805	T	0.06	.	3.5682	0.07908	0.0:0.5126:0.0:0.4874	.	105	Q6ZNG1	ZN600_HUMAN	D	105	ENSP00000344791:G105D	ENSP00000344791:G105D	G	-	2	0	ZNF600	57962507	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.955000	0.03869	0.022000	0.15160	0.298000	0.19748	GGT		0.393	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		66	92	0	0	0	1	0	66	92				
ACAP3	116983	broad.mit.edu	37	1	1229511	1229511	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:1229511G>A	ENST00000354700.5	-	22	2410	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ACAP3_ENST00000353662.3_Silent_p.G661G|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	736					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCGCCCGGCCCCGGCTGT	0.716																																						ENST00000354700.5																			0				endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2206-2208)ggC>ggT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 3							14.0	17.0	16.0					1																	1229511		2159	4245	6404	SO:0001819	synonymous_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1229511G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2208C>T	1.37:g.1229511G>A						ACAP3_ENST00000353662.3_Silent_p.G661G	p.G736G	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN			22	2410	-			736					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	c.2208C>T	CCDS19.2																																																																																				0.716	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		3	3	0	0	0	1	0	3	3				
CCDC85A	114800	broad.mit.edu	37	2	56599549	56599549	+	Missense_Mutation	SNP	C	C	T	rs376208875		TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:56599549C>T	ENST00000407595.2	+	4	1890	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	463										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTCCAGAGCCCGGCGGGTC	0.522																																						ENST00000407595.2																			0				breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38						c.(1387-1389)gCc>gTc		coiled-coil domain containing 85A		C	VAL/ALA	0,3836		0,0,1918	29.0	34.0	32.0		1388	5.8	1.0	2		32	1,8235		0,1,4117	no	missense	CCDC85A	NM_001080433.1	64	0,1,6035	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	463/554	56599549	1,12071	1918	4118	6036	SO:0001583	missense	114800							g.chr2:56599549C>T	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1388C>T	2.37:g.56599549C>T	ENSP00000384040:p.Ala463Val					RP11-482H16.1_ENST00000607540.1_RNA	p.A463V	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1890	+			463						Missense_Mutation	SNP	ENST00000407595.2	37	c.1388C>T	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045798	0.75846	0.0	1.21E-4	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	5.84	0.93424	.	0.000000	0.40222	N	0.001145	T	0.32436	0.0829	N	0.08118	0	0.46927	D	0.999255	B	0.34103	0.437	B	0.28991	0.097	T	0.20306	-1.0279	9	0.33940	T	0.23	-39.398	15.6337	0.76933	0.0:1.0:0.0:0.0	.	463	Q96PX6	CC85A_HUMAN	V	463;52	.	ENSP00000384040:A463V	A	+	2	0	CCDC85A	56453053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.462000	0.53042	2.767000	0.95098	0.591000	0.81541	GCC		0.522	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			6	6	0	0	0	1	0	6	6				
PLK3	1263	broad.mit.edu	37	1	45271237	45271237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:45271237C>T	ENST00000372201.4	+	15	2067	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank|BTBD19_ENST00000450269.1_5'Flank|PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	610	POLO box 2. {ECO:0000255|PROSITE- ProRule:PRU00154}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCCCGAAATCGTAGTGCTTG	0.602																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1828-1830)Cgt>Tgt		polo-like kinase 3							180.0	169.0	173.0					1																	45271237		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45271237C>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1828C>T	1.37:g.45271237C>T	ENSP00000361275:p.Arg610Cys					PLK3_ENST00000465443.1_3'UTR	p.R610C	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			15	2067	+	Acute lymphoblastic leukemia(166;0.155)		610			POLO box 2.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1828C>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808444	0.70797	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.13778	2.56	5.7	4.79	0.61399	POLO box duplicated domain (2);	.	.	.	.	T	0.27967	0.0689	M	0.88310	2.945	0.80722	D	1	P	0.44986	0.847	B	0.43783	0.431	T	0.26608	-1.0098	9	0.72032	D	0.01	-11.1508	13.4698	0.61276	0.0:0.924:0.0:0.076	.	610	Q9H4B4	PLK3_HUMAN	C	610;585	ENSP00000361275:R610C	ENSP00000361275:R610C	R	+	1	0	PLK3	45043824	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.644000	0.61397	1.415000	0.47037	0.563000	0.77884	CGT		0.602	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		39	132	0	0	0	1	0	39	132				
MUC5B	727897	broad.mit.edu	37	11	1266768	1266768	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1266768C>T	ENST00000529681.1	+	31	8716	c.8658C>T	c.(8656-8658)ccC>ccT	p.P2886P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P2889P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2886	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTACCCCATGCCGGGGC	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8665-8667)ccC>ccT		mucin 5B, oligomeric mucus/gel-forming							9.0	12.0	11.0					11																	1266768		1653	3794	5447	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266768C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8658C>T	11.37:g.1266768C>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2886P	p.P2889P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8725	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2886	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8667C>T	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	45	0	0	0	1	0	23	45				
PRKRIR	5612	broad.mit.edu	37	11	76062453	76062453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:76062453G>A	ENST00000260045.3	-	5	1846	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	581					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCCACTGTTGGGACACTTAGG	0.423																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(1741-1743)Cca>Tca		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							33.0	32.0	33.0					11																	76062453		2174	4243	6417	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062453G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1741C>T	11.37:g.76062453G>A	ENSP00000260045:p.Pro581Ser						p.P581S	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1846	-			581					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1741C>T	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215047	0.79352	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21932	1.98;1.98	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.68952	2.095	0.80722	D	1	D	0.59357	0.985	D	0.63488	0.915	T	0.09185	-1.0686	10	0.25106	T	0.35	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	581	O43422	P52K_HUMAN	S	406;581	ENSP00000436249:P406S;ENSP00000260045:P581S	ENSP00000260045:P581S	P	-	1	0	PRKRIR	75740101	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.949000	0.93012	2.607000	0.88179	0.644000	0.83932	CCA		0.423	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		24	48	0	0	0	1	0	24	48				
ZNF445	353274	broad.mit.edu	37	3	44496896	44496896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr3:44496896G>A	ENST00000396077.2	-	3	493	c.146C>T	c.(145-147)cCt>cTt	p.P49L	ZNF445_ENST00000425708.2_Missense_Mutation_p.P49L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	49					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTCCTGGCCAGGGCGGTTGAG	0.587																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(145-147)cCt>cTt		zinc finger protein 445							81.0	81.0	81.0					3																	44496896		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44496896G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.146C>T	3.37:g.44496896G>A	ENSP00000379387:p.Pro49Leu					ZNF445_ENST00000396077.2_Missense_Mutation_p.P49L	p.P49L			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	2	487	-			49					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.146C>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116600	0.77323	.	.	ENSG00000185219	ENST00000425708;ENST00000396077;ENST00000340674;ENST00000430301	T;T	0.06768	3.26;3.26	4.55	4.55	0.56014	Retrovirus capsid, C-terminal (1);	0.368258	0.20158	N	0.098004	T	0.17238	0.0414	L	0.42008	1.315	0.44221	D	0.997054	D;D	0.58620	0.983;0.983	P;P	0.58266	0.836;0.836	T	0.00229	-1.1898	10	0.54805	T	0.06	.	13.0457	0.58924	0.0:0.0:1.0:0.0	.	49;49	B7ZKX2;P59923	.;ZN445_HUMAN	L	49;49;46;48	ENSP00000413073:P49L;ENSP00000379387:P49L	ENSP00000342436:P46L	P	-	2	0	ZNF445	44471900	0.140000	0.22579	1.000000	0.80357	0.976000	0.68499	2.580000	0.46068	2.536000	0.85505	0.563000	0.77884	CCT		0.587	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		44	74	0	0	0	1	0	44	74				
PLA2G2A	5320	broad.mit.edu	37	1	20302328	20302328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:20302328C>T	ENST00000375111.3	-	6	572	c.301G>A	c.(301-303)Gac>Aac	p.D101N	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.D101N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	101					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	CTGCAGGAGTCCTGTTTTGCT	0.423																																						ENST00000375111.3																			0				central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(301-303)Gac>Aac		phospholipase A2, group IIA (platelets, synovial fluid)							79.0	75.0	77.0					1																	20302328		2203	4300	6503	SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20302328C>T	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.301G>A	1.37:g.20302328C>T	ENSP00000364252:p.Asp101Asn					PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.D101N	p.D101N	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	572	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	101					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.301G>A	CCDS201.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077538	0.20227	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.11930	2.73;2.73	5.0	-1.31	0.09230	Phospholipase A2 (3);	0.866422	0.09674	N	0.770683	T	0.07908	0.0198	N	0.16903	0.455	0.09310	N	1	B	0.13145	0.007	B	0.16722	0.016	T	0.41197	-0.9522	10	0.27785	T	0.31	.	8.5531	0.33465	0.0:0.4752:0.0:0.5248	.	101	P14555	PA2GA_HUMAN	N	101	ENSP00000383364:D101N;ENSP00000364252:D101N	ENSP00000364252:D101N	D	-	1	0	PLA2G2A	20174915	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.784000	0.04633	-0.102000	0.12197	0.563000	0.77884	GAC		0.423	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		20	22	0	0	0	1	0	20	22				
HUWE1	10075	broad.mit.edu	37	X	53560984	53560984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:53560984G>A	ENST00000342160.3	-	82	13463	c.13006C>T	c.(13006-13008)Cct>Tct	p.P4336S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P4336S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4336	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGAGCTGAAGGCAGGCGATCT	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13006-13008)Cct>Tct		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							150.0	118.0	129.0					X																	53560984		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560984G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13006C>T	X.37:g.53560984G>A	ENSP00000340648:p.Pro4336Ser					HUWE1_ENST00000262854.6_Missense_Mutation_p.P4336S	p.P4336S			Q7Z6Z7	HUWE1_HUMAN			82	13463	-			4336			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13006C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.57|12.57	1.976756|1.976756	0.34848|0.34848	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|D;D	.|0.83992	.|-1.79;-1.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|HECT (4);	.|0.059818	.|0.64402	.|D	.|0.000002	D|D	0.94598|0.94598	0.8259|0.8259	H|H	0.99697|0.99697	4.71|4.71	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.984;0.98	.|P;P	.|0.56398	.|0.797;0.694	D|D	0.97139|0.97139	0.9823|0.9823	5|10	.|0.87932	.|D	.|0	.|.	17.2866|17.2866	0.87143|0.87143	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4336;4320	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|S	3369;1158|4336	.|ENSP00000340648:P4336S;ENSP00000262854:P4336S	.|ENSP00000262854:P4336S	A|P	-|-	2|1	0|0	HUWE1|HUWE1	53577709|53577709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.879000|8.879000	0.92398|0.92398	2.436000|2.436000	0.82500|0.82500	0.529000|0.529000	0.55759|0.55759	GCC|CCT		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		38	69	0	0	0	1	0	38	69				
FAT2	2196	broad.mit.edu	37	5	150943158	150943158	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr5:150943158G>C	ENST00000261800.5	-	2	3314	c.3302C>G	c.(3301-3303)tCt>tGt	p.S1101C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1101	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTAGTAAGATGCAAATTC	0.468																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(3301-3303)tCt>tGt		FAT atypical cadherin 2							80.0	77.0	78.0					5																	150943158		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150943158G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3302C>G	5.37:g.150943158G>C	ENSP00000261800:p.Ser1101Cys						p.S1101C	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	3314	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1101			Cadherin 9.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3302C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090723	0.76756	.	.	ENSG00000086570	ENST00000261800	T	0.03181	4.02	4.93	4.93	0.64822	Cadherin (5);Cadherin-like (1);	0.319310	0.27008	N	0.021393	T	0.20700	0.0498	M	0.91196	3.185	0.36943	D	0.892491	D	0.63046	0.992	P	0.56127	0.792	T	0.33266	-0.9875	10	0.66056	D	0.02	.	18.4957	0.90864	0.0:0.0:1.0:0.0	.	1101	Q9NYQ8	FAT2_HUMAN	C	1101	ENSP00000261800:S1101C	ENSP00000261800:S1101C	S	-	2	0	FAT2	150923351	1.000000	0.71417	0.947000	0.38551	0.933000	0.57130	5.346000	0.65992	2.461000	0.83175	0.484000	0.47621	TCT		0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		22	28	0	0	0	1	0	22	28				
BLVRA	644	broad.mit.edu	37	7	43832356	43832356	+	Silent	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:43832356C>T	ENST00000402924.1	+	6	460	c.297C>T	c.(295-297)ccC>ccT	p.P99P	BLVRA_ENST00000265523.4_Silent_p.P99P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	99					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TGGAATACCCCATGACACTGT	0.468																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(295-297)ccC>ccT		biliverdin reductase A	NADH(DB00157)						89.0	80.0	83.0					7																	43832356		2203	4300	6503	SO:0001819	synonymous_variant	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43832356C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.297C>T	7.37:g.43832356C>T						BLVRA_ENST00000265523.4_Silent_p.P99P	p.P99P	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			6	460	+			99					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	c.297C>T	CCDS5472.1																																																																																				0.468	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		14	27	0	0	0	1	0	14	27				
HCFC1	3054	broad.mit.edu	37	X	153228798	153228798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chrX:153228798G>A	ENST00000310441.7	-	4	1556	c.590C>T	c.(589-591)cCa>cTa	p.P197L	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197L|HCFC1_ENST00000354233.3_Missense_Mutation_p.P197L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	197					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGGTGGTGGTAGGACCCC	0.542																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(589-591)cCa>cTa		host cell factor C1 (VP16-accessory protein)							94.0	95.0	95.0					X																	153228798		1978	4135	6113	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153228798G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.590C>T	X.37:g.153228798G>A	ENSP00000309555:p.Pro197Leu					HCFC1_ENST00000354233.3_Missense_Mutation_p.P197L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197L	p.P197L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			4	1556	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		197					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.590C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156830	0.78114	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.64618	-0.11;-0.11;-0.11	5.27	5.27	0.74061	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86736	0.6004	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91601	0.5295	10	0.87932	D	0	.	16.9011	0.86114	0.0:0.0:1.0:0.0	.	197	P51610	HCFC1_HUMAN	L	197	ENSP00000309555:P197L;ENSP00000359001:P197L;ENSP00000346174:P197L	ENSP00000309555:P197L	P	-	2	0	HCFC1	152881992	1.000000	0.71417	0.996000	0.52242	0.378000	0.30076	9.499000	0.97975	2.339000	0.79563	0.529000	0.55759	CCA		0.542	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		44	79	0	0	0	1	0	44	79				
ZFP69	339559	broad.mit.edu	37	1	40961127	40961127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr1:40961127C>T	ENST00000372706.1	+	6	1983	c.977C>T	c.(976-978)cCc>cTc	p.P326L	ZFP69_ENST00000372705.3_Missense_Mutation_p.P326L|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTGAGAAACCCTTTGAATGT	0.438																																						ENST00000372706.1																			0											c.(976-978)cCc>cTc		ZFP69 zinc finger protein							76.0	71.0	73.0					1																	40961127		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40961127C>T	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.977C>T	1.37:g.40961127C>T	ENSP00000361791:p.Pro326Leu					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.P326L	p.P326L							6	1983	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.977C>T	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442341	0.83993	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.24350	1.86;1.86	4.65	4.65	0.58169	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000607	T	0.52549	0.1741	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55860	-0.8074	10	0.87932	D	0	-10.2857	15.8405	0.78842	0.0:1.0:0.0:0.0	.	326	Q49AA0	ZN642_HUMAN	L	326	ENSP00000361791:P326L;ENSP00000361790:P326L	ENSP00000361790:P326L	P	+	2	0	ZNF642	40733714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.769000	0.62300	2.854000	0.98071	0.655000	0.94253	CCC		0.438	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		26	25	0	0	0	1	0	26	25				
LHFPL3	375612	broad.mit.edu	37	7	104377191	104377191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr7:104377191G>A	ENST00000401970.2	+	2	595	c.473G>A	c.(472-474)tGt>tAt	p.C158Y	LHFPL3_ENST00000535008.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000543266.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000424859.1_Missense_Mutation_p.C158Y|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	172						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						AAACGGATGTGTGGAGAAAAG	0.458																																						ENST00000535008.1																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(514-516)tGt>tAt		lipoma HMGIC fusion partner-like 3							84.0	82.0	83.0					7																	104377191		1939	4161	6100	SO:0001583	missense	375612					integral to membrane		g.chr7:104377191G>A	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.473G>A	7.37:g.104377191G>A	ENSP00000385374:p.Cys158Tyr					LHFPL3_ENST00000401970.2_Missense_Mutation_p.C158Y|LHFPL3_ENST00000543266.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000424859.1_Missense_Mutation_p.C158Y	p.C172Y			Q86UP9	LHPL3_HUMAN			4	639	+			158					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.647532	0.87958	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95532	0.8604	10	0.87932	D	0	1.152	20.0845	0.97795	0.0:0.0:1.0:0.0	.	172;172	A1L384;A4D0Q5	.;.	Y	158;172;158;172	ENSP00000393128:C158Y;ENSP00000444350:C172Y;ENSP00000385374:C158Y;ENSP00000445976:C172Y	ENSP00000385374:C158Y	C	+	2	0	LHFPL3	104164427	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.821000	0.97095	0.650000	0.86243	TGT		0.458	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000		10	21	0	0	0	1	0	10	21				
MUC5B	727897	broad.mit.edu	37	11	1263792	1263792	+	Silent	SNP	G	G	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:1263792G>A	ENST00000529681.1	+	31	5740	c.5682G>A	c.(5680-5682)acG>acA	p.T1894T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T1897T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1894	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCCACGGCCACGCCCT	0.612																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(5689-5691)acG>acA		mucin 5B, oligomeric mucus/gel-forming							86.0	107.0	99.0					11																	1263792		2186	4270	6456	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1263792G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5682G>A	11.37:g.1263792G>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T1894T	p.T1897T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	5749	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1894			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.5691G>A	CCDS44515.2																																																																																				0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		34	65	0	0	0	1	0	34	65				
VPS54	51542	broad.mit.edu	37	2	64141332	64141340	+	In_Frame_Del	DEL	AGACGAGTA	AGACGAGTA	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr2:64141332_64141340delAGACGAGTA	ENST00000272322.4	-	17	2464_2472	c.2310_2318delTACTCGTCT	c.(2308-2319)cttactcgtctg>ctg	p.770_773LTRL>L	VPS54_ENST00000409558.4_In_Frame_Del_p.758_761LTRL>L|VPS54_ENST00000354504.3_In_Frame_Del_p.617_620LTRL>L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	770					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.R772S(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAATCTGACAGACGAGTAAGCATGTCAG	0.335																																						ENST00000354504.3																			1	Substitution - Missense(1)	p.R772S(1)	lung(1)	endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1849-1860)ctg>ct		vacuolar protein sorting 54 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64141332_64141340delAGACGAGTA	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2310_2318delTACTCGTCT	2.37:g.64141332_64141340delAGACGAGTA	ENSP00000272322:p.Leu770_Arg772del					VPS54_ENST00000409558.3_In_Frame_Del_p.LTRL758del|VPS54_ENST00000272322.4_In_Frame_Del_p.LTRL770del	p.LTRL617del			Q9P1Q0	VPS54_HUMAN			14	2440_2448	-			770					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	In_Frame_Del	DEL	ENST00000272322.4	37	c.1851_1859delTACTCGTCT	CCDS33208.1																																																																																				0.335	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		14	70						14	70	---	---	---	---
RBM4B	83759	broad.mit.edu	37	11	66444242	66444243	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr11:66444242_66444243delCG	ENST00000525754.1	-	1	976_977	c.308_309delCG	c.(307-309)ccgfs	p.P103fs	RBM4B_ENST00000531969.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531036.2_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000310046.4_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000524637.1_Frame_Shift_Del_p.P103fs			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	103	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ATTCGATGACCGGACCATACTC	0.5																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(307-309)cfs		RNA binding motif protein 4B																																				SO:0001589	frameshift_variant	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66444242_66444243delCG	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.308_309delCG	11.37:g.66444242_66444243delCG	ENSP00000433071:p.Pro103fs					RBM4B_ENST00000524637.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000310046.4_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531969.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531036.2_Frame_Shift_Del_p.P103fs	p.P103fs			Q9BQ04	RBM4B_HUMAN			1	976_977	-			103			RRM 2.		B3KT83	Frame_Shift_Del	DEL	ENST00000525754.1	37	c.308_309delCG	CCDS8149.1																																																																																				0.500	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		51	146						51	146	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824518	74824518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr14:74824518delC	ENST00000256362.4	+	2	1273	c.1032delC	c.(1030-1032)cgcfs	p.R344fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	344					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGATCTCCCGCTCAACCTACT	0.657																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1030-1032)cgfs		vertebrae development associated							47.0	50.0	49.0					14																	74824518		2203	4300	6503	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824518delC	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1032delC	14.37:g.74824518delC	ENSP00000256362:p.Arg344fs						p.R344fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1273	+			344					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.1032delC	CCDS9830.1																																																																																				0.657	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		32	54						32	54	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56084325	56084326	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr17:56084325_56084326insA	ENST00000258962.4	-	1	381_382	c.173_174insT	c.(172-174)ttcfs	p.F58fs	SRSF1_ENST00000585096.1_Frame_Shift_Ins_p.F58fs|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.F58fs|SRSF1_ENST00000582730.2_Frame_Shift_Ins_p.F58fs|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	58	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAACTCAACGAAGGCGAAGGG	0.579																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(172-174)tgtfs		serine/arginine-rich splicing factor 1																																				SO:0001589	frameshift_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56084325_56084326insA		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.174dupT	17.37:g.56084327_56084327dupA	ENSP00000258962:p.Phe58fs					SRSF1_ENST00000585096.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.C58fs	p.C58fs	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			1	296_297	-			58			RRM 1.		B2R6Z7|D3DTZ3|Q13809	Frame_Shift_Ins	INS	ENST00000258962.4	37	c.173_174insT	CCDS11600.1																																																																																				0.579	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		49	90						49	90	---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12829917	12829917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7568-01A-11D-2229-08	TCGA-CV-7568-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f24774e4-d8fc-4702-a0e2-98fecfce3515	6984db85-4f5b-48c5-bc22-3bc30b159b89	g.chr19:12829917delG	ENST00000592287.1	-	4	359	c.251delC	c.(250-252)cctfs	p.P84fs	TNPO2_ENST00000441499.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000450764.2_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000588216.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000425528.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000589956.1_5'UTR	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	84	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTGCCACAGGGGGTGGGAA	0.577																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(250-252)ctfs		transportin 2							117.0	119.0	119.0					19																	12829917		2062	4203	6265	SO:0001589	frameshift_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12829917delG	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.251delC	19.37:g.12829917delG	ENSP00000468434:p.Pro84fs					TNPO2_ENST00000588216.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000441499.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000450764.2_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Del_p.P84fs	p.P84fs			O14787	TNPO2_HUMAN			5	608	-			84			Importin N-terminal.		O14655|Q6IN77	Frame_Shift_Del	DEL	ENST00000592287.1	37	c.251delC	CCDS45991.1																																																																																				0.577	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		53	82						53	82	---	---	---	---
